Raphael in CHARGE

My child has just been diagnosed with CHARGE syndrome, what should I do?

2011-09-15T22:44:00.002+10:00

BIG DISCLAIMER: I have no relevant qualifications other than being a parent of a child with CHARGE syndrome.

This is my attempt to provide a hand specifically for people who have just had their child diagnosed with CHARGE syndrome. There are so many things that you need to do it can be overwhelming. Here are some of the things that helped us and our child and therefore would recommend to others in similar situations.

Get medical experts.
Get a good baby sitter network for other kids.
Early intervention (physiotherapy, occupational therapy, speech pathologist, hearing and vision specialists).
Possibly learn sign language to give your child a language as early as possible.
Get respite assistance.
Get financial assistance.
Get concessions.
Get disabled parking permit.
Look out for the emotional well being for yourself and the rest of the family too.
Talk with your work about the extra time off that you are going to need with short notice over the coming years.

When dealing with medical experts:

If you feel intimidated or overwhelmed then you can bring a support person with you. Advocacy groups in your state can help with this if you don't know someone who is outspoken and blunt enough. (Thanks for this tip Tricia)
Make sure you have doctors who are willing to spend a lot of time with you (be prepared to sit in waiting rooms a long time to see these doctors).
If you don't understand anything that they say (concepts or words) make sure you ask them to explain what they mean. It takes a long time to get up to speed but empowers you with the knowledge of what is wrong with your child and how you can improve their condition. Also get them to spell words that you don't understand so you can look them up at your leisure later.
Audio record your consultation. Of course you need to get each doctor's permission before recording them. Listen to the Audio recordings. Recollections aren't as good as recordings and we sometimes find that we misunderstood what the doctor was saying in the consultation and it makes things a lot clearer. Also, if you can find the time, take notes from the audio recording (and mark how far through the recording it was taken from) so you can look over them again in the future. We have gone back to our notes a few times to look for information that was talked about but not written in any letter or report. We have found audio recording so useful that we are considering making it a requirement for when we choose doctors for Raphael. We have dealt with two specialists who have not permitted audio recording and we have found that we have not received adequate information from those consultations. Don't believe doctors when they say they will write a letter including everything that you have talked about, their letters contain useful information but are never complete enough.
Write questions down on a piece of paper before you go to the consultation.

Let the doctor run the consultation until the end when you have your questions.
Ask the questions that you have even if you think that they have already answered previously, sometimes the answer is not what you thought it was going to be.
Write down the answers meticulously and make them slow down if you can't keep up.

Confirm each party's action plans at the very end eg:

We will see the doc in 2 months for follow-up.
We will arrange appointment with ENT to ask about airway problems.
We will change feeding schedule to 600ml of milk and 150ml of puréed solids per day.
Doctor will talk with ophthalmologist and surgeon to arrange combined eye and stomach surgery.

Chase up your consultant after the appointment to make sure that they are doing what they have agreed to do.
Request letters to be sent to your paediatrician and yourself.
Obtain and maintain a complete file of letters and test results. Sometimes doctors are slack in giving you copies of reports and letters. Don't let it slip. Every letter and test result is useful and may be asked for in the future by other specialists. Organise the file so you can be sure to be able to find all of the information easily and quickly so that you can bring it out when it is asked for in other doctor consultations. Eg we file all letters from ENTs together, we also file similar tests together such as all echo cardiographs.
Get second opinions. The decisions you make now could effect your child for the rest of their life.
Keep a simple list of dates for when things happen (eg when tests were performed, surgeries, introduction of things like cpap, gastric tibes and when they stopped)

When dealing with allied health professionals and teachers (physiotherapists, dieticians, occupational therapists, speech pathologists, vision teachers, orientation and mobility specialists, hearing teachers):

At the end of the therapies/consultations get them to write something short including:

a comment on your child's progress
next developmental features to aim for
some things that you can do at home to promote development (you have plenty to do so make sure it is something that you are going to have time to do).
comments that they think would be helpful for Doctors

having combined session with multiple professionals is considered an advantage but make sure that you get input from each professional. Sometimes the quieter professionals sit back a bit much and you may have to actively encourage their input. In the same way, sometimes a talkative one will dominate the consultation, don't be afraid to say something like "I would really like to get the OTs opinion on his fine motor skills" to shift the focus.

When in hospital:

treat it as much like home as you can.
when nurses come around to see you don't feel that you have to stand on ceremony.
if you want something (anything) ask for it.
use the call bell thing, that is what it is for.
in shared wards, 3/4 of people want to talk but don't know how to start.
bring your own pillow for a much more comfy stay.
if someone is going to conduct a painful test that you didn't know about then speak to a doctor first or find out who the requesting doctor is. If you don't know who the requesting doctor is then don't let them do the test until you have spoken to a consultant. It might be a mistaken order or supposed to be for someone else.
hospital is a boring place. Bring something to do. Be careful about things that require power though, the hospital might not want you to plug in any equipment into their wall sockets. Instead make sure you have a healthy supply of batteries for all of your electronic stuff. I am very glad that I invested in a portable media player (you could buy a portable DVD player instead). The hospital might have a DVD player that you can use to play DVDs so you might like to splurge on a stack of them before you go into hospital to you can watch your favourite series or movies.
don't feel that you are confined to your bed or room. Even when hooked up to all manner of machinery it still may be possible to go for a walk. Just press the call button and ask (if you want to).
sleep at home not in the hospital (if your child will let you). There is not much that you can do at night that a nurse can't do and in a busy hospital there are plenty of interruptions to wake you up and wreck your sleep. Better to be come back in fresh and early then to be there all night, with nothing to do, and groggy and useless all day.
doctors do their rounds at extremely unpredictable times. If you have to go out for some reason and you haven't seen the consultant yet then make sure you tell your nurse that you would like to see the consultant when they do their rounds because otherwise you might miss them.
There are tonnes of people that might be called doctors (correctly or otherwise): students, interns, residents, registrars and consultants. Ask them what they are before spending time talking with them or being touched by them.

Students: you are too busy to talk with these poor sapllings. Give them a polite smile and then forget that they are there.
Interns: shipped from department to department, they are doing everything for the first time. They often look like startled rabbits and may have nervous twitches. Don't let interns touch your kid, let them get their practice on someone less complicated.
Residents: I don't think I have met many residents. I suspect that these guys are the ones that do what the nurses tell them to do (eg writing scripts for drugs).
Registrars: These guys range from just useful to very competent. Get to know the registrars in your area if you can. They will be the ones managing tests and important medications.
Consultants: These are real doctors with lots of experience (there are still good and bad of course). You will want to have consultants, who you know, managing each important area. These are the only people who are actually worth asking any important questions to but it is hard to get enough time with them. They will rarely perform tests themselves, although they are very competent in doing so. Always get consultants to explain the results of tests. If your consultant doesn't give you enough time or you don't understand them properly or you don't trust their opinion then get another consultant.

On a final note, I would be very happy for people to comment on this post to pick up things that I have missed.

Good luck!
Paul

It has been a long time

2011-09-15T22:24:00.000+10:00

It has been a long time since my last post but I wanted to say that this year Raphael has undergone intensive speech pathology and his talking skills have take a couple of huge steps forward.

It is obviously still hard work for him to understand what people are saying to him but he is an eager learner and all the hard work that everyone is investing in him is being reflected well in his progress.

Guess what Raphael did

2010-11-12T17:57:00.000+11:00

A poo in the toilet!

This is the first one that we have cought. Raphael was also excited to let us know and wanted us to immediately have a look at the brown deposit. It wasn't big, but it was there.

We rewarded him him with a piece of chocolate and after enjoying that piece he decided to go straight back to the toilet to do more. And surprisingly enough he was able to do more!

Hopefully this is the beginning of a trend of poos in the toilet rather than clothes.

Australasian CHARGE Conference 2010

2010-10-30T08:15:00.001+11:00

We took some realy valuable information away with us from the Australasian CHARGE conference this year.

Some more information on the conference can be found here:
http://www.chargesyndrome.org.au/conference2010.html
But the really valuable stuf came from talking to the presenters and other attendees.

Chronology of events that doctors are usually interested in

2010-09-29T22:00:00.004+10:00

When we see new consultants (which seems to happen frequently) they like to get a full medical history. This takes ages and we usually forget when things happened so I am compiling this list to help me with this.

colour legend:

general notes
doctor visits
medical test results
early intervention / therapy
noted development milestones
General hospitalisation
Surgery

Raphael's timeline:

18/3/2006 - Raphael Bartlett born at term (on due date).

birth weight 4.055kg.
Initial anomalies noted: wonky ear, facial palsy, slightly low set ears.
Gurgley breathing.
Failed to reach birth weight by the time he left hospital (3.78kg).

11/5/2006 - first doctor appointments concerning weight gain (paediatrician and ENT).

ENT noted laryngomalacia and mucus pooling at the back of his throat.
11/5/2006 first doctor appointments concerning weight gain (paediatrician and ENT).

11/5/2006 - first barium swallow showed significant aspiration and oesophageal reflux and that his oesophagus may be being slightly squeezed by an artery.
26/5/2006 - first echo cardiograph reported as showing a small ASD (Atrial Septal Defect) but other cardiologists since have also referred to it as a PFO (Patent Foramen Ovale).
May - December 2006 - various attempts tried for oral feeding including:

Using herbs to stimulate milk production.
Expressing milk and adding HMF (Human Milk Fortifier).
Using formula at a controlled increased concentration.
Finally tried using Infantrini (high energy premixed formula).
Higher intake was achieved but Raphael started vomiting large amounts undoing all the good work that we were doing.

31/5/2006 - started osteopathy for Raphael's facial palsy.
September 2006 - first opthalmologist visit. He noted major left eye probelms rendering it practically useless and also commented on monir right eye problems.
1/9/2006 - Raphael rolled over for the first time (all the way).
19/9/2006 - Raphael takes solids for first time. Paediasure (complete feed supplement) added to fortify. Consumption of only liquids and pureed foods continue to 1/11/2008 but still remain the staple to date (6/1/2009).
24/10/2006 - first audiologist appointment reveals some hearing loss. Further test requirted to determine extent.
30/10/2006 - started Early intervention at Early Learning Tasmania.
10/11/2006 - Hearing test (ABR) revealed 40db loss in left ear and 50db loss in right ear
24/11/2006 - another echo cardiograph still shows the hole in his atrial septum.
28/11/2006 - another type of barium swallow done and no fistula was found between the oesophagus and trachea.
8/12/2006 - Raphael has had an NGT (Naso-Gastric Tube) inserted in hospital which will be used to supplement his daytime oral feeding with overnight. This proved to be extremely effective.
18/12/2006 - MRI performed on head and upper chest. Cranail nerve anomalies were noted allong with a hypoplastic vestibular system rendering it useless. Reacted poorly to anaesthetic and hospitalised for one night (post intubation stridor).
20/12/2006 - consulted with geneticist who was still unsure what condition Raphael was experiencing. He suggested that some parts of Raphael's symptoms was similar to CHARGE syndrome but he did not beleive that is what Raphael had partly due to the asymitry of Raphael's problems.
11/1/2007 - Ophalmologist noted high right eye pressure, but still within normal limits
12/1/2007 - Geneticist now states that Raphael has CHARGE Syndrome
15/1/2007 - CT scan performed but movement has reduced its resolution significantly only showing fluid filled middle ear cavity.
1/2/2007 - Started learning and teaching Auslan to Raphael as language seems to be delayed.
13/2/2007 - Started to crawl backwards.
17/2/2007 - Raphael has started sitting unaided.
22/2/2007 - Started commando crawling.
23/2/2007 - Renal ultrasound showed no anomalies.
28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
5/3/2007 - Used first Auslan sign (hello).
11/3/2007 - used pincer grip.
15/3/2007 - kneeling for first time.
21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
26/3/2007 - Sleeping oxygen study shows severe obstructive sleep apnoea.
27/3/2007 - Crawling on hands and knees (classical crawl) for first time.
4/4/2007 - signing finished (appropriate usage of the sign).
4/4/2007 - moves from crawling to sitting comfortably.
18/4/2007 - General anaesthetic incorporating a number of procedures:

CT scan gives no additional information apart from a possible cholestatoma in middle ear. ENT comments that this cannot be seen clinically and therefore it is probably just fluid buildup.
Grommet insertion surgery.
ABR test shows significant hearing reduction in left ear (down to 90db loss) after grommet insertion.
eye pressure test shows normal pressure.

24/4/2007 - Hearing aids fitted for first time.
4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
9/5/2007 - commenced CPAP with intensivist in hospital.
1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
27/6/2007 - Cruised for first time (walking while holding onto a surface).
9/7/2007 - stopped NGT feeds for oral feeding trial (never went back to tube feeding). He was scheduled to have Fundoplication and Gastrostomy but he was sick when it was supposed to happen and the this successful oral feeding trial has made it unneccessary.
8/8/2007 - Parasomnias noticed. Started out with sleep sitting but went on to sleep standing and night-terrors. These eventually subsided by the middle of 2008 and appear to have completely gone by 2009.
21/8/2007 - Barium swallow video fluoroscopy test. Showed aspiration of thin fluids (such as milk) but no sign of reflux during the study (he vomited afterwards though).
15/9/2007 - makes the following sounds: "dya-dya-dya", "adaadaadaadaa", "aiyaiyaiya", "mama", "ba". this is notbale becuase he doesn't make any new sounds for over a year from here.
27/9/2007 - commenced occlusion thereapy by patching Raphael's right eye to try to stimulate the development of his left eye vision. We kind of talked the ophalmologist into giving us patching advice, he did not think that patcihng will help.
12/10/2007-13/10/2007: admitted to hospital because of very large tonsil airway obstruction concerns.
1/11/2007 - Second oppinions sought in Sydney from education specialists, therapists, paediatrician, ENT, opthalmologist, cardiologist, thorasic surgeon (sleep specialist). Only new recommendation is to have adenoids and tonsils removed.
30/1/2008 - taking first unaided walking steps.
11/2/2008-13/2/2008: brought into hospital because of concern about possible dehydration; admitted to hospital with pneumonia.
28/2/2008 - signs about 5 signs.
12/3/2008 - Nearly suffocated to death on vomit in CPAP.
28/3/2008 - confident walking with trolley.
7/4/2008 - walks confidently.
8/5/2008-10/5/2008: admitted to hospital with pneumonia, suspected viral, temperature peaked over 40.
16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
4/7/2008 - adenotonsilectomy performed in the hope that it would improve breathing at night.
31/7/2008 - ophalmologist acknowledges that patching has improved raphael's left eye and it now provides peripheral vision.
4/10/2008 - Australasian CHARGE Syndrome conference in Christchurch, New Zealand.
20/11/2008 - Sleep study in Monash showed that CPAP level should be set to 5.0.
13/12/2008 - eats chocolate cake without choking
15/1/2009 - third echo cardiograph still shows the hole in his atrial septum.
1/1/2009 - started to use two sign phrases (not just two gestures)
16/1/2009 - eats bread without choking
18/1/2009 - eats toast and a fresh apricot without choking
8/4/2009 - Jumped for the first time (both feet off the ground)
9/4/2009 - eats just about anything except fibrous meat and crunchy foods (like apple)
27/3/2009 - Renal ultrasound shows no issues
10/4/2009 - Sleeping oxygen study shows no more obstructive sleep apnoea
29/4/2009 - Sleep study in Monash showed that CPAP was no longer required
22/5/2009 - started at ABC learning childcare 1 day per week for socialisation
8/2/2010 - now able to make k sound can make dy sound sometimes
4/6/2010 - can make an s sound in specific circumstance "is"
13/8/2010 - made a "sh" sound for the first time but is unreliable in reproduction
13/8/2010 - started 2 half days at local kindergarten as a prekinder type of experience
1/9/2010 - Sleeping oxygen study confirms no more obstructive sleep apnoea
13/9/2010 - Renal ultrasound shows now issues
29/9/2010 - eats everything but occasionally has a bit of a cough

Summary of chronology summary

2010-09-29T07:48:00.000+10:00

As my wife bluntly pointed out to me, the last timeline summary is very difficult to pick out individual items. Thankfully she created this summary summary. Indeed this is much better for the job.

28/11/2006 - barium swallow (2).
8/12/2006 - Raphael has had an NGT (Naso-Gastric Tube).
18/12/2006 - General anaesthetic (1) - MRI (1) performed on head and upper chest.
12/1/2007 - Geneticist states that Raphael has CHARGE Syndrome.
15/1/2007 - CT scan (1).
23/2/2007 - Renal ultrasound (1).
26/3/2007 - Sleeping oxygen study shows severe obstructive sleep apnoea.
18/4/2007 - General anaesthetic (2) incorporating a number of procedures:

CT scan (2).
Grommet insertion surgery.
ABR (2) test shows significant hearing reduction in left ear (down to 90db loss) after grommet insertion.
24/4/2007 - Hearing aids fitted for first time.

9/5/2007 - commenced CPAP with intensivist in hospital.
9/7/2007 - stopped NGT feeds for oral feeding trial.
8/8/2007 - Parasomnias noticed.
21/8/2007 - Barium swallow (3) video fluoroscopy test.
27/9/2007 - commenced patching Raphael's right eye.
4/7/2008 - General anaesthetic (3) adenotonsilectomy performed.
20/11/2008 - Sleep study in Melbourne Childrens Sleep Unit Monash Hospital.
15/1/2009 – echo (3)
27/3/2009 - Renal ultrasound shows no issues
10/4/2009 - Sleeping oxygen study shows no more obstructive sleep apnoea
29/4/2009 - Sleep study in Monash showed that CPAP was no longer required
1/9/2010 - Sleeping oxygen study confirms no more obstructive sleep apnoea
13/9/2010 - Renal ultrasound shows now issues

Oxymetry study

2010-09-03T10:13:00.000+10:00

Raphael stayed in hospital last night to confirm that his breathing is still ok over night.

The results were all good and so I think that finally marks the absolute end of his night time breathing problem.

New sound "Sh"

2010-08-13T21:54:00.000+10:00

I am not sure if I have mentioned it before but we take Raphael to a private speach pathologist and she is fantastic!

Just this last visit she taught him to produce a new sound in just a couple of minutes "Sh".

We have seen a large number of speech pathologists and it seems that very few have the skills required to teach Raphael how to make new sounds. If you don't think that you are making progress with your speech pathologist then I strongly recommend that you ask around for recommendations for good speech pathologists. One thing to watch out for though is that good speech pathologists can get away with charging like a wounded bull.

Paul

Local Primary School

2010-08-13T21:50:00.001+10:00

Raphael is getting some early intervention in the local primary school to push his communication and socialisation skills.

So far it is working extremely well. He is really trying hard to use words to talk with people although his lack of distinct sound production ability makes it hard to understand.

The new sound "s"

2010-06-04T17:44:00.001+10:00

Today Rapahel made a new sound "s".

He did this at the end of a word that he was copying "Always"

It is not a very confident sound but it is being made with the correct part of the mouth rather than him using the constant fluid in his nose to make an s whistle when he breathes out his nose.

We are still trying to get him to confidently end words with k and make dy sounds but this seems to get better and worse over time. At least he is making some progress, even if it is in an area that we have not been trying to teach him.

Ironically his Chinese can be quite clear but he has a very limited Chinese vocabulary. Mostly "I want" and "I don't want"

Raphael in China 2

2010-05-18T17:54:00.000+10:00

The future star experimental kindergarten. The day before Raphael was expelled from his school Annie and I walked past this child care centre. Oddly enough, this was the place that Annie had researched in Australia but when we got to China, Annie’s father had already organised a few other ones so we went to that one instead. When we brought Raphael into the centre we were taken to the area that Raphael would be in and immediately they asked when he could start. He, of course, charmed the teachers immediately, as he always does, and we have not had a problem since. The monthly fees are more expensive than at the other place but because we didn't have to pay an initial signing fee and we didn't need to offer an financial incentive for teachers to not resign (we were prepared to pay Y1000 ~AU$200) it worked out Y100 cheaper than before.

A display in the child care centre that we noticed after a while of taking Raphael there. Certainly not the attitude of the previous child care centre.

Not an atentive boat driver

Other photos...

Raphael in China 1

2010-05-18T17:13:00.000+10:00

Baobao’s first child care. We looked at a few of the nearby child care centres and decided that this was the best one. When went there we met the carers (“teachers” in China) and the office staff and they met baobao. They told us what the next step would be and they told us that we needed to go and get a blood test taken. After having this done we brought him in and paid the money then we met the principal. She took one look at baobao’s hearing aid and immediately said that they could not accept Baobao in the centre because of his diability. To reduce the length of what is a long story she eventually recognised that they had already caused Raphael to have a blood test for acceptance and so she accepted him. The story does not end there though.

The following day when we turned up she met Annie and said that she had found out from the teachers that Raphael was still wearing nappies (we had told the teacher about this when we came in previously) and that this was another reason that they could not accept him. She said that they would be happy to trial him in the centre for two days to see how it went. So we left him there. That evening when we went to pick him up, the principal said that one of the teachers had handed in a letter of resignation because of baobao and if we could convince her to stay then baobao could stay.

The next day Annie went to talk to the teacher who had written the letter of resignation and she said that she had not resigned and that there was no problem as far as she was concerned. In fact the same was for all 4 teachers of baobao’s class and the medical officer in the centre said that Raphael was fitting in fine and seemed to be very intelligent, already knowing what was going on despite the language gap (hmm, something fishy is going on with that principal). The end result was that Raphael was expelled despite us meeting every requirement and even offering a significant amount of more money to help the centre meet the additional costs of looking after him (which there were none). We did not want to push the matter any further because it was clearly not a matter of finding solutions to problems but rather some kind of phobia. If the principal does not want Raphael in the centre then we don’t want Raphael there either. So we looked for a new child care centre (more on this later).

Later the medical officer called us saying how bad she felt about Raphael being rejected. She was very sweet and kindly offered her time to help us push the matter further or find another centre but by that stage we had already found another child care centre.

Raphael turned 4 years old while we were in China.

He can still vomit at short notice, but is less likely to get it on himself now

Kite flying

Other Photos...

Raphael's colobomas

2010-02-12T17:02:00.004+11:00

I have a special treat for you today.

The ophthalmologist kindly agreed to take photos of Raphael's coloboma. We did not get a photo of the right eye coloboma becuase it is quite low but there are some good ones of the left eye.

Left:

Right:

If people are interested I amhappy to explain the parts of the images (as far as my eye anatomy will allow me to do so).

Practicing ...k and ...dy

2010-02-08T14:18:00.001+11:00

Progress update

2009-10-30T07:51:00.003+11:00

After a long time on no apparent speech progress we change strategy about a month ago and we have had some success.

We have stopped giving him what he asks for when he signs for something and have demanded that he also have a good try at saying the word/sentence also. This seems to have paid off because in the last couple of weeks he has started using multi-word sentences and in the last couple of days his pronunciation has improved a lot. He is even occasionally letting a "t" slip out.

And here are some updated photos...

It has been a long time since the last post

2009-07-10T15:30:00.006+10:00

Q: So what has been happening lately?
A: The regular drudge of appointments of course.

In addition to the occasional doctor appointment, this is what a typical week looks like at the moment:

Monday: Signing with a deaf adult followed by the early intervention playgroup

Tuesday: Speech Pathology

Wednesday: RIDBC (Royal Institute of Deaf and Blind Children) videoconference

Thursday: Teacher of the Deaf - teaching listening skills.

Friday: Childcare in a mainstream childcare centre. We are hoping to give him some real world exposure rather than the world of therapy and "special needs" that he is immersed in for the rest of the time.

An example home speech pathology session

2009-05-24T19:32:00.001+10:00

First day at daycare

2009-05-22T16:06:00.001+10:00

More sleep studies

2009-05-01T14:14:00.001+10:00

Raphael had two more sleep tests in Hobart and he continued to maintain excellent saturations over night. So with this information we organised another full Polysomnography test in Melbourne for 29-30/4/2009.

To cut a long story short, this latest test confirmed the good results that he appeared to be having in Hobart.

The Doctor told us that the previous test in Melbourne showed 23 apnoea events each hour. To put this in perspective 1 is normal and 5 is extreme so Raphael was really struggling then. This recent test showed that Raphael had improved down to just 3.5 events per hour. This result is good enough to put a stop to CPAP. We were warned not to get rid of the machine though because if he comes down with a respiratory infection then he may need to temporarily go back on it again.

We also still need to continue to monitor him because since he has stopped CPAP we have noticed that his stridor (gurgly/raspy breathing) has come back again strongly during the day. If this is still there after six months then it may be worth another full sleep study in Melbourne to make sure that nothing is getting worse with his sleeping.

As for Annie and I, we are celebrating the opportunity of getting uninterrupted sleep for the first time in three years.

And a short video like the one from 2008:

Simple Sleep Study

2009-04-10T08:51:00.004+10:00

Raphael had a simple sleep study performed last night in hospital. This is mainly to monitor his blood oxygen saturation while not on CPAP.

The results were good in that he maintained good oxygen levels all night without a single desaturation. He even has a slight upper respiratory infection at the moment so this was an excellent effort.

We will leave him off CPAP at home for the next few nights and he will go back into hospital on Monday night to see if things are still the same.

Questions people keep asking us (or should ask us)

2009-04-09T11:05:00.004+10:00

I will slowly modify and add to this over time

Name: Raphael Shalom Bartlett
Birth date: 18/3/2006
Handedness: Right ( I think)

Chief Problem: CHARGE syndrome

Mother and Father: Paul and Annie Bartlett

home phone: ___________________

mobile: ___________________

Important:
before performing any test or invasive procedure on Raphael (including suctioning) try to call me on my home number and work number. We find that Raphael is often given incorrect types of tests because of his complicated situation.

Don't suction Raphael, just wipe his nose if necessary.

Raphael has a very sensitive Gag reflex, touching the top of his tongue with a tongue depressor is usually enough to trigger a vomit.

Allergies:
No known allergies but:

Codeine is a candidate as a cause for a particularly bad oxygen desaturation while sleeping in hospital once.
Raphael is at high risk of aspiration (and aspiration pneumonia) because of his swallowing dysfunction and reflux/vomiting. Close observation is necessary while Raphael is drinking and eating.

Sleeping:
Raphael has two sleeps of a day:

Afternoon sleep from about 14:00 to 16:00
Night sleep from about 19:30 to 07:00 with CPAP

Raphael's airway is less obstructive if he sleeps on his side but he may roll onto either side and/or his back during his sleep. Raphael is used to falling asleep by himself and will do so by himself at his sleeping times unless there is too much stimulation. Before his sleep time, remove his hearing aids (and turn off) and it is generally a good idea to drape sheets over the side of his cot (if in hospital) until he is asleep so that he does not get distracted by the other activity in his room. If he is woken up during his afternoon sleep then it is unlikely that he will go back to sleep.

Feeding:
Raphael is transitioning from fortified foods to family meals.

Currently he has a number of sources of nutritian intake:

Milk (Nutrini high-energy multi-fibre) by straw cup
Slice of bread spread with "paediasure butter" (three scoops of paediasure mixed with small amount of water to make a spreadable texture).
Sustagen Icecreams (Sustagen made up to a thick consistency and then frozen on a paddlepop stick to make an icecream).
Offered family foods at meal times. He still has occasional trouble with fibrous meat (eg beef/pork) and crunchy foods (eg raw apple) so it is neccessary to observe him while he is eating these things.

If Raphael starts to cough then it is possible that he is about to vomit. Always be prepared with a decent sized cloth nearby to catch it.

When Raphael has eaten enough he might sign "finished" by twisting his fists slightly. He may even vocalise "A'da" (all done) as well and refuse food by turning away or pushing the food away.

When Raphael is sick he is less likely to want to eat foods and usually prefers Nutrini.

Milk (Nutrini) by straw cup
Raphael drinks milk throughout the day as he wants. He could drink anything from nothing to 400ml depending on his mood.

For the milk feed, allow Raphael to sit up and hold the cup himself. He would like to be able to put the cup on a flat surface that he can reach to drink again at a later time.

CPAP:
Raphael sleeps at night with his CPAP machine to reduce his sleep apnoea. Normally his setting is at 5.0.

Our CPAP routine is:

Attach oxygen saturation probe.
fit CPAP mask. Note that the top three straps should be left alone as they don't need to be adjusted and if they are then it makes it harder to fit later.
Turn on CPAP.
When removing the CPAP mask, turn off the airflow and then disconnect both lower straps. Leave the top three straps alone.

Blood Oxygen Monitoring:

Raphael's normal awake blood oxygen saturation is usually between 95%-100%.
When deep sleeping he can desaturate down to 75% and his airway obstructs often. Raphael's obstructions appear to be worse when sleeping on his back and/or if his head is tilted forward.
When sleeping with CPAP his saturations are usually between 97%-100%, sometimes as low as 95%
When Raphael is sick his saturation fluctuates between 85%-93% while he is awake. while he is asleep this can be worse.
When sick and on CPAP his saturations have been measured at around 91%. Adding a small amount of oxygen to the flow (even as low as two litres/minute) can bring his saturations back up to 95%.

Comforting:
If we (the parents) are not on the ward then we will not be far away. Common causes for when he is grumpy:

Nappy needs changing
Tired
High temperature
Frustrated about being unable to do something
Wants something but is not getting it. Common wants include drink (Nutrini), bread, TV, or whatever he is pointing at.

Raphael might throw mini tantrums if he does not get something that he wants. If he can't have it tell him no. We don't mind if he chucks a temper tantrum.

Raphael loves to walk around and always enjoys exploring the playroom. Cars, aeroplanes, books and puzzles are usually winning toys.

We recognise that in hospital television is a useful tool to distract children from their problems and it is possible to distract Raphael with television but keep in mind that his moderate to severe hearing loss and left eye blindness can reduce his interest. The following are some tips to overcome this:

Fit his hearing aids and turn them on.
Make sure he is sitting squarely towards the visual stimulation.
Do not amplify the sound to a level that you think is too loud for yourself; this may distort the sound that Raphael hears.
Even Raphael's good eye (right eye) has a problem that makes it difficult for him to see objects higher than eye level. It would be better if the visual stimulation was provided at his eye level rather than requiring him to look up to see it.

Communication:
Raphael has a moderate to severe hearing loss in both ears which is manageable with hearing aids. With or without hearing aids Raphael understands and uses some sign language. Useful signs that he uses include:

"bed time"
"drink"
"hungry" and "eat"
"Medicine"
"Finished"
"More"
"Tissue"
"Bib"
"Shoes"

Raphael is effectively blind in his left eye and his right eye may have a reduced upper field of vision. Engage him front on and at his eye level to get his attention.

Daily Routine:

~6:00-7:00: Raphael wakes up. We disconnect his CPAP when he wakes.
~8:30: Offer Nutrini Energy Multi Fibre (in a straw cup) and bread spread with "Paediasure butter" (see above). He may also want a tiny amount of cereal with milk.
~10:30: Maybe hungry again, offer left overs from breakfast.
~12:00: Offer whatever is going for lunch. He is usually fond of bread, so you can't go wrong with that.
~14:00-16:00: afternoon sleep (sleeps for 1-2 hours)
~16:00: Offer Nutrini Energy Multi Fibre (in a straw cup)
~17:00: Offer whatever is going for dinner.
~20:00: Night time sleep

Offer Nutrini Energy Multi Fibre (in a straw cup)
Brush teeth

Connect CPAP mask and then turn it on (8.0 normally but sometimes raised to 9.0 when he is sick). Raphael usually falls asleep within a few seconds of the CPAP turning on)

Bathing:
We normally bath Raphael once per week on a Saturday. You can bath him more if you want (eg in case of a huge vomit)

Previous Hospitalisations:

20/11/2008-21/11/2008: Sleep study in Monash
3/7/2008-6/7/2008: adenotonsilectomy
16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
8/5/2008-10/5/2008: admitted to hospital for pneumonia.
11/2/2008-13/2/2008: admitted to hospital for pneumonia.
12/10/2007-13/10/2007: admitted to hospital because of upper respiratory infection and swolen tonsils. Constant observations because of possible risk of tonsils closing airway while sleeping.
22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
17/4/2007-19/4/2007: CT scan, grommet insertions, ABR test and eye pressure test under general anaesthetic. Good result from anaesthesia. This hospital stay noted the Codeine incident (see Allergies above).
25/3/2007-27/3/2007: hospitalised for two night sleep study. Study showed frequent and severe blood oxygen desaturations.
21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
18/12/2006-19/12/2006: admitted to day surgery for MRI scan. Reacted poorly to anaesthetic and hospitalised for one night.
4/12/2006-8/12/2006: hospitalised for NGT placement and training.
18/3/2006: Born in Calvary hospital. Normal full term delivery.

Immunisations:
Up-to-date (as of 9/4/2009).
(this includes an influenza vaccination for 2009 winter).

Drugs Previously Taken:

temp list:
Ciprofloxacin (ear drops) - antibiotic for middle ear infection (first taken 31/1/2008)
Prednisolone (oraly) - anti-inflamitory? (used to reduce the swelling of Raphael's tonsils)
Demazin (oraly) - cough management
Paracetamol (oraly) - pain relief
Ibuprofin (oraly) - pain relief
*Codine (iv[?]) - pain releife (*see allergies section)
Amoxicillin (oraly intramuscular[?] and iv[?]) - antibiotic
Ceftriaxone (iv) - antibiotic
Clamohexal Duo (oraly) - antibiotic
Sofradex (ear drops) - antibiotic
local anaesthetic applied along with intramuscular antibiotic
Drying medication for general anaesthetic
General anaesthetic and associated drugs

Jumping

2009-04-08T11:45:00.001+10:00

Well it looks like that trampoline that we bought has been doing good therapy for us.

Raphael jumped for the first time today. Both feet leaving the ground at the same time. He did this in our lounge room, not on a trampoline.

Auslan revision videos

2009-03-25T17:01:00.005+11:00

I mentioned to another family that I have been learning Auslan and they asked me to publish my revision videos so here they are. Of course this does not replace doing an Auslan course but I hope you can get something out of them.

Alphabet

Numbers

Let's Sign 1

Let's Sign 2

Beginners 1

Beginners 2

Beginners 3

Beginners 4

Beginners 5a

Beginners 5b

Beginners 6

Level 1-1

Level 1-2

Level 1-3

Level 1-4

Level 1-5a

Level 1-5b

Level 1-6

Level 1-7

Three years old and going strong

2009-03-18T11:45:00.005+11:00

Raphael turned three today (yay). We had a party in the park and some present opening inside. He a very full day and ended up totally exhausted, falling asleep in the beanbag.

As you can see from his charts, we have had a very successful nutrition campaign with him that we are all very happy about. However we are now entering a new era of food with him because he is now starting to eat family food. He is now rejecting his old puree's which is unfortunate because they were very easy to fortify with extra nutrition, such as Paediasure. We still have other methods that we can use though. He still likes to drink his Nutrini milk and he loves to eat icecreams that we make out of Sustagen pudding.

Squeeling Hearing Aids

2009-02-05T17:16:00.001+11:00

Raphael's current issues and actions

2009-01-20T19:45:00.000+11:00

Bad left eye vision

Patching 30 minutes to 1 hour about three days per week. We have been letting this slip lately and it has been more like once a week.

Poor hearing

Bilateral Hearing aids during all waking hours.
hearing tests every three to six months.
regular ENT appointments every three to six months.

Poor speech

Bilateral Hearing aids on during all waking hours.
Speech pathology appointments every three weeks.
teacher of the deaf appointment once a week.
learning to listen playgroup once a week.
RIDBC video conference once a week.
learning to sign Auslan by:

Attending signing playgroup once per week.
studying ipod signing teaching system borrowed from RIDBC.
In February we are organising a deaf person to come to our house for maybe an hour a week to enhance our Auslan skills.
using http://www.auslan.org.au/.

Facial palsy

we have tried osteopathy and acupuncture point massage but neither of these has made any difference.
Currently we are not doing anything to overcome this.

Antisocial behaviour

Now that we have the vomiting and aspiration under control most of the time we are starting to put firm boundaries in place for Raphael. He is no longer in charge of everything.

Poor swallow, aspirating fluids and choking on lumpy foods

Main food is pureed fruit, custard, yoghurt, and pureed pumpkin
gradually trying to give Raphael different textures, so far he can eat soft crumbly cake in small amounts.

Slowly developing gross motor skills

Early intervention playgroup once per week.
Auslan playgroup once per week.
Added a double rail to our front steps so that Raphael can hold it while climbing and descending the steps.
Lots of trips to the local park and playground equipment.

Sleep Apnoea

Sleep testing about once a year
CPAP while he sleeps overnight with an oximiter.

Heart defect

Echo cardiographs occasionally to ensure stability.
No current action.

Funny looking right ear

Nothing.
It would have been possible to mould his ear within the first few weeks of life without surgery, but unfortunatelly we did not know about the ways of doing this then.

Aspirations

It has been recommended that thickening fluids that he drinks would be a good idea to reduce the chance of aspirating fluids.
We are ignoring this as it is just too much trouble along with everything else we have to do.

Vomiting

When he has periods of vomiting we limit his fluid intake and feed him10ml of water at a time every 10 minutes to try to keep his fluids up.
We have to make sure that there are no drinks sitting around for him to find or he will guzzle them and then vomit.

Cognitive skills

Formally testing him yearly to make sure that we are addressing any shortcomings.
Attending early intervention once a week.

A Hard weekend of Auslan

2009-01-18T19:10:00.000+11:00

I work with computers for a living (a systems administrator for those of you who know a little about the industry). This gives me an advantage with working with computers to make my life easier and the ability to give me information at my fingertips. However there is always a cost of having increased information, and that is increased time required to absorb that information and turn it into knowledge.

On Thursday night I spent three hours writing a script (programme) to download all of the video signs from http://www.auslan.org.au for my own personal use in educating myself more in Auslan. If this is in breach of the copyright of the site then I do apologise. I also downloaded the synonyms and meanings of the words and grouped them all appropriately together so that I can easily look them up. I then loaded them onto my phone with appropriate free software to be able to display them. Now I can lookup the signs for over 7000 words quickly wherever I am. For instance I just timed myself and from a cold start it took me 20 seconds to look up the word "Whatever" and so now I know how to sign it.

The next part involved getting a set of pictures that Raphael can look at so I can then teach him the sign for the word. The reason that I was thinking of doing it this way is because of the outstanding success that I had previously with teaching Raphael signs from pictures. He loves looking at the pictures on my phone and then signing it.

So my wife and I started scanning/photographing the pictures from a childrens' picture dictionary of 1500 words. Then I spent another couple of hours writing another script to compare the list of video signs with the list of picture signs that I had and creating folder of all of the correlating pictures.

So now all I have to do is stay one letter ahead of Raphael to teach him a stack of signs. So far I have gone through about 60 signs and reviewed or learned all of them. This has brought me up to about half way through the letter b so there is plenty more to do. I have only scanned up to the letter D, so I will need to do more photographing of the dictionary aswell.

That is my plan but there is one serious flaw to the plan. Raphael learns faster than I do.

This is the sort of thing that I have access to now:

Click on image to replay the sign.

crash

smash

accident

As a Noun

An event in which a moving car or other vehicle hits something and is badly damaged or destroyed. English = crash, smash, accident.

As a Verb or Adjective

Of a car or other moving vehicle, to hit something and be badly damaged or destroyed. English = crash, smash, have an accident.

Known medical status (general executive summary for medical professionals)

2009-01-18T17:52:00.000+11:00

Eyes:
Right eye:

essentially normal
small inferior coloboma
vision seems to be normal for age from this eye

Left eye:

microphthalmic
extensive posterior polar coloboma
posterior staphyloma
excavated morning glory type disc
all professionals say no useful vision from this eye but recent patching (27/9/2007) shows that he can distinguish objects at least as small as peas. 1/6/2008 he can walk with his right eye patched. 31/7/2008 vision improved in left eye, receives peripheral vision from left eye even with no occlusion of right eye.

Cranial Nerves:

left facial palsy
left optic nerve hypoplasia
vestibulocochlea nerve malformations
Uncoordinated swallow resulting in frequent aspirations (he has a good clearing cough though)

Heart:

Small ASD (has also been described as a patent foramen ovale by different cardiologist)
Aberrant right subclavian artery

Growth and development:

fed by NGT from 4/12/2006 till 9/7/2007 because he would not put on weight fast enough.
development slightly delayed, receives early intervention
Poor swallow also means that he is unable to swallow anything lumpier than a purée without coughing and gagging. January 2009, has started to cope with bread and soft fruits. Currently main nutrition comes from Nutrini and purées (fortified with Paediasure).

Ears:

Bilateral vestibular malformations; "only 1 hypoplastic semi-circular canal is identified". Walking is preferred mode of travel at 26 months.
Bilateral grommets inserted to deal with chronic ear infection. These extruded around May 2008.
Bilateral hearing aids to address hearing loss

Right ear:

characteristic CHARGE external right ear
moderate (60db) hearing loss in right ear

Left ear:

severe (90db-100db) hearing loss
vestibulocochlea nerve malformations

Airway:

experiences frequent obstructive sleep apnoea has CPAP when sleeping to overcome this (pressure: 8-9). September 2008, post adenotonsilectomy, reduced CPAP to pressure 4.0. November 2008 sleep study in Monash recommends CPAP to be set to 5.0.
aspirations are common while drinking ("significant gastro-oesophageal reflux" and "excessive pharyngeal milk and secretion residue")
His laryngomalacia has not been noted for some time now. Laryngomalacia noted during adenotonsilectomy 4/7/2008.
Mucus and food that he has recently eaten frequently runs from his nose.

Hospitalisations:

20/11/2008-21/11/2008: Sleep study in Monash
3/7/2008-6/7/2008: adenotonsilectomy
16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
8/5/2008-10/5/2008: admitted to hospital with pneumonia, suspected viral, temperature peaked over 40.
11/2/2008-13/2/2008: brought into hospital because of concern about possible dehydration; admitted to hospital with pneumonia.
12/10/2007-13/10/2007: admitted to hospital because of very large tonsil airway obstruction concerns.
22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
17/4/2007-19/4/2007: CT scan, grommet insertions, ABR test and eye pressure test under general anaesthetic. Good result from anaesthesia.
25/3/2007-27/3/2007: hospitalised for two night sleep study. Study showed frequent and severe blood oxygen desaturations.
21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
18/12/2006-19/12/2006: admitted to day surgery for MRI scan. Reacted poorly to anaesthetic and hospitalised for one night (post intubation stridor).
4/12/2006-8/12/2006: hospitalised for NGT placement and training.
18/3/2006: Born in Calvary hospital. Normal full term delivery.

Another echo cardiograph, how is his heart now

2009-01-15T17:34:00.004+11:00

We are yet to get the report from the cardiologist but the sonographer showed us that there is still a hole on the ultrasound display.

We had a training paediatric sonographer perform the test on Raphael with an experienced sonographer sitting behind her. Raphael was acting as a perfect child while he was being scanned and lay perfectly still for about 45 minutes, holding his favourite toy ambulence in his hand until therey were all finished.

We talked with the sonographers while they were doing the scan and they often commented on Raphael's amazing compliance (especially considering he is nearly three year old). I asked how they did the test with uncompliant children and they just said "quickly". It is nice to know that they had time to be very thorough. At home Raphael isn't nearly as compliant, but there is something about being in the hospital that sedates him.

Vision research for occlusion and colobomas

2009-01-07T18:50:00.001+11:00

I have had this blog post in draft for a very long time. These were references to papers that supported patching (occlusion) to improve vision in eyes that have serious physical defects. They didn't appear to be very well written but they gave me hope for patching in Raphael and my hope has been vindicated. I only provide the references here in case any other parent in a similar situation needs them:

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=16767381&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15534588&ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15162287&ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=7065094&ordinalpos=9&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Eats first M&M

2009-01-06T15:08:00.004+11:00

Well I didn't think he'd be able to handle an m&m but my wife thought otherwise and as today marks the start of us starting Raphael's potty training, Annie wanted to the food reward system to be something new.

He handles the m&ms well, he eats them by waiting for them to disolve in his mouth and then they are no problem for him.

The potty training on the other hand hasn't been entirely successful yet but we have only be trying for a couple of hours so far and it took our other kids a week before they were potty trained.

Raphael can fly a kite

2009-01-04T22:09:00.001+11:00

Signing and speaking progress

2009-01-01T11:35:00.002+11:00

Raphael has made moderate speaking progress this year but has been picking up Auslan signs extremely quickly. I can no longer count how many signs he knows because there are too many to keep track of.

Today he spontaneously used a two sign phrase that we have not used with him before. He signed "Brother" then "Sit" then pointed to his back. This was shortly after his mean father put a stop to a game where Raphael's older brother was bouncing on Raphael's back.

So that Raphael can participate in eye chart tests, we trained him to sign the eye chart pictures. I did this by photographing the chart with my phone and sitting with him and going through the pictures. Here is the result of our work:

You'll notice that I have been a bit slack in blogging lately. I have stopped blogging every single appointment because it was getting silly with at least four a week.

No more warnings

2008-12-30T17:03:00.002+11:00

Raphael is a bit sick again. Nothing major this time (yet). Just high temperature, diarrhoea, vomiting, reduced food intake and increased grumpiness.

The annoying thing this time is he is no longer giving a warning cough/grunt before he vomits. Over the last year he has been gradually giving less and less time between his cough/grunt and his vomiting, but now the first warning that we are getting is being covered in spew.

So in the supermarket, on my friends, in general public places, in the car (a favourite of his), and all over our house he is sharing the contents of his stomach in as many locations as possible.

Eats chocolate cake for the first time

2008-12-13T15:03:00.002+11:00

Since his doughnut triumph we have been trying a few different foods but without much success. But today he successfully manages very small pieces of chocolate cake. This is slightly tougher than the doughnuts.

Melbourne Sleep Study

2008-11-20T22:45:00.003+11:00

On Wednesday we flew to Melbourne to have a Sleep Study performed at the Monash Medical Centre to determine whether Raphael still needed CPAP.

I was unimpressed by the staff who managed the CPAP while Raphael slept. They did not seem to know how to use their own CPAP machine and did not do what I told them to do when it became obvious that they did not know what they were doing. The Nurses were lovely but I don't think that they would dispute the embarrassing mistakes that they made with the machine. It reminded me on how lucky we have been in Hobart where we had the specialist introducing CPAP on Raphael themselves.

Regardless of the errors in CPAP application it was obvious that Raphael is still unable to breath properly when he sleeps. I don't have the specialists final report yet but I am 100% certain that they will recommend continuing with CPAP.

Raphael eats doughnut for first time

2008-11-01T14:59:00.000+11:00

This is the first non-pureed food that Raphael has eaten without choking (much).

He seems to have learned to masticate very small pieces of it into a puree and then he is able to swallow it

Back from the conference

2008-10-15T18:53:00.001+11:00

I have created a short video (~4 mins) to commemorate our visit to the Christchurch conference. This can be seen here:

I also took a number of notes that I'll be using to give a presentation to Early Childhood Intervention Australia next week. Here are the notes that I took (for anyone who may be interested). If you are one of the speakers and you feel that I have misrepresented what you have said then please comment on this post and I will gladly rectify any issue that you raise.

Charge Syndrome New Zealand 2008 Conference

One on one clinics

Tim Hartshorne (Psychologist and parent of 19yo CHARGE child)
“Try not to spoil CHARGE child... but I don’t know how to avoid it???”

Rob Last (Teacher of deaf and blind) 30y CHARGE experience
Use everything to communicate: pictures, signs, speech, sounds. If someone says that CHARGE child with mild-moderate hearing loss doesn’t need sign language, it’s “bullshit”.
Looking back on his career, there are some children whom he firmly believes would have significantly better communication if he had pushed the parents to do sign language from a young age.
The best way to get family to pick up sign language as a second language is to hire someone (Child of deaf Adults – CODA) to be with you in the home for a day per week and have no speech times.

Audiologist
Is BAHA (bone anchored hearing aid) worth investigating for Raphael?

Speakers

George Williams (Paediatrician with special interest in CHARGE)
· Keep good records
· Use people that you trust
· Recognise the child’s disability but:
o Don’t let other people put limits on you because of the disability
o Decide on what intervention is worth doing
· CHARGE kids need help to enter puberty (seems like 100% of cases)
· At lease some CHARGE adults have a drive to get married and have kids.

Kasee Stratton (psychology PhD student from USA)
Pain and learning in schools
· CHARGE children can appear to be Resistant to pain and display bursts of aggression:
o Bullying is commonplace for children with disabilities.
o CHARGE kids may suffer from post traumatic stress disorder because of the early medical intervention. This in turn can lead to aggression, self destruction and the loss of self regulation.
o When suffering chronic pain, pain can build up unnoticed until it is excruciating, seeming like it is all of a sudden. This can look like someone flying off the handle for no reason.
o Children with developmental delays express pain less clearly.
· School is hard for children with disabilities.
o Sensory deficits make doing normal things exhausting because of the high concentration that is required all of the time.
o Lack of special treatment in schools makes it hard to perform at optimal level. It is important to get OT, PT and speech pathologist input in the classroom design for CHARGE children. (and I would add orientation and mobility consultant)
o Many people don’t recognise the fact that multiple disabilities do not just have an additive effect on learning difficulties but rather are multiplicative:
Learning difficulty factor <> +
Learning difficulty factor = x x x x
o CHARGE children need specific teaching with communication and social skills. You cannot assume that they will just pick them up like other children.

Tim Hartshorne
Parenting a child with CHARGE
· Questions with no good answers:
o How do we know that we are doing the right therapies?
o How do we know if we are prioritising the right areas?
o What professional advice should we defy?
o Do we have the right doctors and health professionals?
o How hard should we push to get our way with what we think is best?
· Hearing impaired and vision impaired is deafblind
· You will have to fight for services because either:
o He’ll never ... so there’s no point in trying
o He seems fine so he doesn’t need services
o Can only get therapy up to the lower end of “normal” even if skills in other areas are lacking
· Recognise the behavioural issues of CHARGE syndrome
o Poor ability to inhibit emotions
o Trouble shifting from one activity to another
o Obsessive compulsive especially in organising materials
o Inability to notice how own actions are affecting other people
o Inability to self calm/stimulate
o Inability to pay attention
o Can exhibit extreme behaviours to try to self stimulate but can go overboard and meltdown
· All behaviour has a purpose.
· Let the child know that you know what they want even if the answer is no.

James Townshend
CODA - only hearing family member, parent of child with Down syndrome, and teacher of the deaf.
Siblings of children with disabilities
· Alarm bells should ring if you see siblings showing signs of:
o Powerlessness to protect the disabled child from other’s ridicule or impatience.
o Fears that the disabled child’s needs will absorb much of the family resources
o Isolation caused by limits on the family’s social life.
o Diminished self-esteem.
o Real confusion about the disability
o Extra pressure to succeed in school
o Resentment about the role of always being ‘the helper’
· Strategies for siblings:
o Talk to others
o Read about your brother or sister’s disability
o Learn from other siblings who have had similar experiences
o Be willing to teach your parents
o Recognise that your disabled brother or sister has more similarities than differences to you
o Be proud of what your family experience provides you with
o Don’t be afraid to ask for help
o Teach your friends and others
o Keep your sense of humour and a positive outlook
o Remember that your brother, like you, needs to make his own way in the world
o Be the best person your can be
o Get involved in some way
· What can parents do?
o Recognise the uniqueness of your family
o Recognise, value and appreciate each child’s individuality
o Insist that extended family show no favouritism
o Be fair
o Arrange regular special times/ quiet time with hearing siblings
o Be alert for signs of stress in hearing sibling as well
o Limit responsibility
o Praise efforts
o Provide opportunities for siblings to express their feelings
o Have appropriate expectations of siblings. No saints thanks!
o Give siblings strategies
o Listen to siblings
o Admit you do not have all the answers
o Schedule family discussions
o Avoid comparing siblings
o Let siblings settle their own differences wherever possible
o Acknowledge and reinforce positive interactions
o Invite siblings’ friends over often
o Allow the siblings to be involved in activates designed to support the disabled child
o Provide opportunities to meet other similarly disabled children, siblings and adults.

David Brown (Consultant teacher for deaf blind)
· Recent study in USA looking at deafblind school leavers found:
o ½ have no formal communication system – recommendations to deal with this issue are not being actioned.
o 1/3 display Problematic behaviour
o Large majority are not working and are living with parents with little hope for independent living
o ½ have few friends outside their families

Social skills and Emotional Maturity
· Social skills are very important
o People offering residential housing, further education, and employment are looking for people who will fit in and are able to deal with the social demands.
o Education systems in US and UK don’t seem to place much priority on social skills.
o Challenging behaviours are usually tackled punitively without anything being offered to teach appropriate social behaviours.
o Get child involved in the community rather than schooling the child to be “ready” for the community.
· Emotional maturity is not being:
o Totally compliant
o Very quiet
o Very obedient
o No problem
· Emotional Maturity also involves:
o Making demands
o Asserting oneself
o Making one’s presence known
· Teaching emotional maturity involves these steps:
o The ability to identify own emotions (the ability for the child to label their own emotions)
o Understanding why they are having the emotion
o Self regulation - managing the emotion, keeping it under control
o Using emotions to aid ones own situation, ie intentionally summoning up an emotion that will be helpful for a coming situation.
· The adult child relationship is critical in developing emotional and social maturity.
· Emotional and social maturity gives someone skills to guard against:
o Loneliness
o Depression
o Feelings of isolation
o Panic
o Stress

Teaching and assessing
· Too much focus on establishing discreet skills
o eg can stack two 1” blocks, can stack three 1” blocks,
o Why not go on till they can stack 45 1” blocks to keep the child busy until they leave school [sic]
· Little interest in the process of acquiring skills
o When did the child learn this
o How did the child learn this
o Teachers change and records aren’t kept with this kind of information
· What about:
o Problem solving
o Rate of learning
o Generalisation of skills
o Combining skills spontaneously without being taught
o These skills are real independence, real functioning
· CHARGE kids need significant individualisation of the curriculum
o Schools are not good at doing this
o Even in cases where it is recognised that a student needs to have an individualised curriculum/communication and language programme David sees that they kids are still just doing the same as the rest of the kids in the classroom. Even when 1 on 1 assistant available this still doesn’t work properly.
· Consider the value in following the child’s interests as an aid to motivation for learning
o “Where is the joy in this child’s IEP?” – Individual Education Plan

CHARGE syndrome tips and traps
· Therapy in schools:
o Teachers are often unaware of what the child’s therapists are working on
o Therapy only seems to happen when the therapist is present
o Therapists should be embedding the required systems/equipment into the child’s every day environment
o Self regulation issues are not normally addressed at all in schools
o There can be lots of focus on vision and hearing but usually no focus on the other sensory systems (eg taste, smell, touch, balance)
· Consider the mental health issues for the child considering the medical intervention that they endure and the sensory impairments that they suffer from.
· Consider self regulation issues present in CHARGE
o State of arousal ranges from highly agitated to deep sleep.
o It is important for people to be able to move up or down based on their current situation
o CHARGE kids often don’t know what their current state is
o And the don’t have strategies to move themselves up or down by themselves
o You might need to intervene by taking away overstimulating environment or giving a calming activity
· “Feeling safe, secure and understood makes successful learning possible”
· CHARGE kids seem to have rapid turn arounds in emotion. David theorises that this could be put into words by saying “I had no idea I was:
o in pain until I was in agony”
o scared until I was terrified”
o angry until I was furious”
· Use Whatever works.
o If it works then it is good teaching, if it doesn’t work then it is bad teaching
o Don’t blame the child and don’t blame the tools, if it doesn’t work then it is just bad teaching
o Don’t do what is conventionally acceptable, do what works
o Don’t be afraid to make a fool of yourself it works

Vision
· CHARGE kids need to be in special positions to maximise sight eg:
o Lying down
o Head well supported
o Maybe even upside down
· People see with their brains, not with their eyes
o When providing visual information, provide context. Eg: “what animal’s head is this?”, not “what is that?”
o Point our important features to provide a reference to what is being seen.
Schooling CHARGE children
· Reducing stress needs to be a high priority because kids with CHARGE are constantly in stress to start with.
· Watch out for sensory defensiveness (for Raphael he hates people holding his arms/hands, but he is willing to initiate the contact if offered)
· CHARGE children have to contend with true multi sensory impairment: vision, hearing, smell, touch, empathy.
· CHARGE children have high developmental potential with therapists.
· In school environment, good outcomes are achieved with:
o 1 to 1 support
o Sensory impairment consultants (vision/hearing)
o Physiotherapist
o OT
o Speech pathologist
o Adapted furniture
o Individualised motivators
o Appropriate communication systems (eg added audio or visual support)
o Individual pacing
o Facilities for rest
o The right teacher (willing to explore for the benefit of education)
· An example of someone, who could not get a supported environment at school, created a home schooling environment by utilising distance education and support time to provide the in home care.

Rob Last
Developing Communication
· CHARGE kids with Mild-moderate hearing loss may not pick up speech as expected. Other senses play a role aswell
o Need to be able to breath well
o Have to have a clear mouth
o Facial muscles have to work well
o Cleft pallet (not Raphael)
o Eating issues
· It may be necessary to support spoken language with a visual language.
o All kids with CHARGE should be given spoken and sign options
· For teaching communication you need the following people:
o A teacher of the deaf who is fluent in sign language
o Paediatric audiologist
o Speech pathologist
o OT trained in sensory integration

Transitioning to school
· Start planning a year ahead
· Go to schools and speak to the principal
· During the year leading up Have thorough assessments made in the areas of:
o Vision
o Hearing
o Communication
o Physical development
o Orientation and mobility
o Occupational therapy
o Cognition
· Consider the Inclusion support workers and therapists that child will require
o Inclusion support worker
o Visiting teacher of the deaf
o Visiting teacher of vision
o Speech pathologist
o Occupational therapy
o Physiotherapy
o Be sensitive the teacher because this is a lot of people that have to come into their classroom
· Will the school welcome visiting role models eg Jasmine, Belinda, Ellen
· Is the school willing to offer Auslan as a second language.
· Will the school be willing to make modification eg
o moving classroom around
o erecting blinds
o highlighting edges in yellow
o clearing danger areas
o add lighting to passages
· question the schools policy on:
o diversity
o bullying
o discipline (relevant to your child’s potential behaviour and also the behaviour of other kids to your child)
· Consider the funding that is offered to the school (may differ public/private)
· Consider independent travel to school
· After the meeting with the principal offer a PD session (collaboratively with a teacher that already knows the child well and the parent) on your child to his new teachers
o Can do practical simulations eg stand on a wobbleboard, put bluetack in ears and put on vision reducing glasses. Now “write your name”
· Look at school environment (inside and outside) to find possible difficult navigation spots for child that might need modification.
· May need to redo all of the work if school gets a new principal

Found it!

2008-09-24T22:42:00.003+10:00

I have found the old right hearing aid mould in a rather obscure location. This is much better than the new one because it doesn't have the incessant squealing from feedback caused by the weak fit of the new one.

Got hearing aids

2008-09-22T17:35:00.003+10:00

Phew, we have the hearing aids and new moulds.

The bad news is that the new moulds are rubbish we will have to get new ones made and they wont be available in time. Oh well, at least we still have the old left mould still.

Raphael has a high temperature

2008-09-13T18:01:00.003+10:00

He is still ok, the reason that we knew to look was that he was off his food and was drinking a lot. Whenever this happens it is due to a high temperature so Annie tested him and sure enough there it was.

So we have just over two weeks before we leave for NZ and we have no working hearing aids and Raphael coming down with something.

Coughing

2008-09-11T18:58:00.002+10:00

Raphael coughed all last night. Annie put the humidifier on and increased the CPAP slightly but this did not stop the coughing.

The doctor said that it does not sound like pneumonia, after an examination. So this is probably just yet another cold.

Broken hearing aid

2008-09-09T20:23:00.002+10:00

I went to cook dinner and it could not have been more than 10 minutes before my 4yo ran intot he kitchen yelling something about Raphael's hearing aid.

On investigation, I found that I could not find his hearing aids at all. Raphael was handing me a piece of a huggie that normally holds his hearing aid to his ear but now it had been pulled apart and he was kindly handing it to me and signing that I should say thankyou to him for giving it to me.

I could hear the squeel of the hearing aids and soon I found them but they had been compeltely pulled appart. After 15 minutes of searching for hearing aid bits, and a rapid return to the stove when I heard the ominous sound of boiling over water, I had found 2 huggies, 1 hearing aid mould (with tube missing) and 2 hearing aids, one of them with the tube attachemnt thread broken nealry in half. I have no idea where his other mould is. I still can't believe the amount of damage that he managed to do in such a short time. He is normally realy good with his hearing aids.

And of course we are going to New Zealand at the end of this month for the CHARGE conference. I hope that Australian hearing can get us an appointment before then to get new moulds made and repair the hearing aids.

Bath

2008-08-27T21:20:00.001+10:00

What we have managed to do for Raphael

2008-08-27T17:35:00.000+10:00

My intention for this post is to boast about the progress that we have made with Raphael.

To get Raphael to gain weight in the early months he was given a Naso-Gastric Tube (NGT) to help him get enough food.
We avoided the next step, after an NGT, which was stomach surgery involving a gastrostomy tube and a fundoplication. We managed this by pulling out his NGT and putting him on a strict feeding schedule of rich formula and heavily fortified pureed foods.
We pushed hard to get Raphael's hearing tested early. The testing showed hearing loss which is currently being addressed with hearing aids
Very early therapy, that we initiated, found a problem with his left eye. This was ultimately found to be a severe malformation.
We were advised that his malformed left eye was totally useless (practically completely blind) but after incessantly asking for things that we could do for his eye we were eventually told that patching (right eye occlusion) might help. Disciplined patching has resulted in his left eyesight dramatically improving even to the extent that he is even receiving useful peripheral vision in his left eye even while his right eye is open. Three expereinced ophlalmologists, two orthoptists, and one optometrist told us that we would not be able to achieve this.
There is a three month waiting list to have a real sleep study done in Melbourne or Sydney but my wife pushed hard to get some kind of sleep study for Rapahel because he would stop breathing at night for long periods of time. She managed to get a pulse and oximetry test for two nights in our local hospital and this showed very clearly that Raphael needed assistance breathing at night. This then resulted in Raphael being added to the home care nursing programme and being put on CPAP with a variety of other devices surrounding him.
Our desire to leave no T uncrossed led us to travel to Sydney to get second opinions in all the areas that effected Raphael. This resulted in us comming back to Hobart with the request that he have an adenotonsilectomy. The result of this so far seems to be that we have been able to reduce the pressure of his CPAP and we are hoping that we might be able to remove it alltogether in the no-too-distant future.
despite being completely blind in one eye and haveing no balance sense, lots of dedicated therapy and appointments mean that we ave been able to get Raphael to walk unaided at just over two years of age. I wonder if this might be some kind of record for a child with his medical problems.
We have taught Raphael some sign language (Auslan) becuase of his early hearing problems. He is still unable to talk properly because of his early deafness and throat problems, but Raphael has a functional method of communication with the sign language that we have worked so hard to learn for him.

Of course this is only the list of successes that we have had. It does not cover the amazing multitude of things that we have tried that have gone nowhere.

Lastly I want to give credit where it is due for the amazing Progress that Raphael has made:

Thanks to all of his wonderful medical staff, doctors and nurses who have been patient with our incessent and repetative questioning. Thankyou also for your caring for Raphael and having a give-it-a-go attitude even you have know that what we wanted to do was not going to work.
Thanks to all of his early intervention therapists and teachers who have accomodated us with extra hours of work to help him extend to his full potential.
Thanks to support organisation and our wonderful Australian government for money that has helped us do things like go to Sydney for the expert second opinions and that will help us go to New Zealand for the CHARGE Conference in October this year.
Thanks to my dear wife who always has time for Raphael, and the other kids, and is so amazingly organised when it comes to appointments (only missed two amidst the hundreds that we have had). Thanks also for her dedication to dragging him around to the multitude of therapy appointments that he has. Thanks are also necessary for her encouragement in times when I have been ready to give up on some aspects which, in time, have turned out to be some of his greatest successes.
Credit to Raphael for his persistent and social nature that have greatly aided his development.
Praise be to God for his amazing faithfulness in supporting us and slowly healing Raphael in this trying time for our family.

A couple more Doctor appointments

2008-08-27T12:46:00.004+10:00

We have had a couple more appointments with a Pediatrician and his ENT but apart from Raphael having yet another cold and having his left ear clogged with wax there wasn't much to say.

He has completely recovered from his adenotonsilectomy and now that his latest respiratory infection is subsiding, we have managed to reduce his CPAP level to 4.0 without having any desaturations over night. This weekend we are going to try to put him to sleep without the CPAP on at all (only the O2 monitor).

Not an ordinary eye examination

2008-07-31T19:14:00.003+10:00

We saw the orthoptist today and the conversation went something like this. Edited for brevity

After a bit of testing...
orthoptist: his right eye seems to be developing normally
me: should we patch him to see how his left eye is going?
orthoptist: he won't be able to see
me: I think it is worth a try
orthoptist: there is no point he wouldn't be able to see out of that eye because it is too abnormal
me: "you're wrong" (my exact words)
orthoptist: pardon?
me: "you're wrong!" (more exact blunt words)
orthoptist: ok, lets have a try to see what he can see

After a bit more testing with his right eye patched...
orthoptist: I am pleasantly surprised with what he can see with his left eye
me: it is a shame that he is not getting any vision from his left eye when his right eye is open
orthoptist: no he is getting peripheral vision from his left eye
me: I don't think so

After a bit more testing...
me: wow you are right!

After we saw the orthoptist we saw the ophthalmologist (eye doctor) and his general comments were that he was surprised as how the patching had been so successful in improving his vision in his left eye and that, even though his right eye was still the most important eye in terms of real vision for Raphael, it would be nice to get as much vision out of the left eye as we can.

He stressed the importance of not patching Raphael too much, so as to hinder the normal development of his good eye, but our current regime of 30-60 minutes of patching each day (when we remember, ie more like every other day) was not too much and as it had been so successful so far he encouraged us to continue with this method.

The bad news is that since the patching seems to have been at least partially successful we will have to keep on doing it. ie Because we have done all this hard work, we have more hard work to do [sigh].

intensivist followup

2008-07-30T18:09:00.002+10:00

We had a followup with Raphael's intensivist today after his adenotonsilecomy some time ago.

The plan is that when he gets over his current cold we will reduce his CPAP pressure down to see at what level he starts to desaturate again.

Then about late October we will go to Melbourne or Sydney to have a formal sleep study
done again to see what problem there remain with his breathing while he sleeps.

Adenotonsilectomy

2008-07-06T21:17:00.006+10:00

Raphael was admitted to hospital on Thursday 3/7/2008 to have the adenotonsilectomy surgery on Friday.

Thursday night I received a concerned call from a anaesthetist registrar who went to check on Raphael saying that he sounded like he had a severe respiratory infection and that it might not be safe to proceed with the surgery. But after I explained his normal state she understood that this was as good as he ever got. His normal anaesthetist also had a look at him that night and agreed that this was as good a time as any.

Friday surgery went smoothly and he was in NPICU (Neonate and Paediatric Intensive Care Unit) within three hours. He was very dopey coming out of his General anaesthetic with morphine, as would be expected. But after a nap and waking up in the evening, he set about his work charming the nurses in the ICU. Because of his risk factors he was kept in ICU overnight but he was in very good condition.

The next day he was moved to the Paediatric ward and we found out later that the nurse handing him over said that she had fallen in love with Raphael and it was so nice to actually be a nurse to a person rather than to machines (which is what ICU nursing is normally about).

The ENT surgeon gave us a quick run down on how the surgery went (adenotonsilectomy and laryngoscopy) and the only thing that we were worried about was that his right ear had some blood in it. (The last time his left ear came back from surgery with blood in it he lost 50db of hearing in that ear).

Sunday morning 6/7/2008 he was discharged and he was very happy to come home again.

Raphael is out of hospital again

2008-06-20T16:54:00.001+10:00

Not much more to say.

Raphael in hospital again

2008-06-16T23:59:00.001+10:00

On Monday lunch time we got our mail. One was from the Royal Hobart Hospital saying that Raphael is scheduled to have his operation on the 4th of July. This was a reschedule because last time he was hospitalised with a pneumonia instead of having the surgery.

Raphael must have read the letter and decided to get sick again. Annie took him to hospital on Monday night... another 3 and half hours waiting in the department of emergency medicine (DEM). Near midnight Raphael was finally admitted to hospital because of sustained high temperatures that could not be explained.

Known medical status and development

2008-06-06T22:00:00.000+10:00

(for a summary written for medical professionals please look here)

I intend on detailing all of Raphael's medical conditions, one at a time, over a long period of time. I will be using the CHARGE acronym and "other findings" from "CHARGE Syndrome - a management manual for parents" as a topic template.

It takes me quite a while to compile the information that I have and research it so that I understand it all. Don't hold your breath waiting for each detailed description to be published.

If I update these posts with new/additional information then I will change the "post time and date" to make them current and appear at the top of the blog.

Medical areas covered:

Raphael's eyes and vision
Raphael's cranial nerves
Raphael's heart
Raphael's growth
Raphael's development: physical and mental
Raphael's ears, hearing and balance
Raphael's other medical issues

Summary
Eyes:
Testing shows that Raphael is almost completely blind in his left eye but seems to receive useful vision from his right eye despite the deformities present in that eye.

Cranial Nerves (effecting swallowing and breathing):
Deformities in Raphael's nervous system effect a number of areas:

His sense of smell (Olfactory nerve) may be effected (common in CHARGE syndrome) but this cannot be tested for yet.
His eyes (see above),
Raphael has a left facial palsy which is most obvious at his mouth when he his crying or smiling.
There are visible problems with Raphael's left vestibulocochlea nerve; that is responsible for transmitting hearing and balance information to his brain (also see hearing and balance below).
Raphael has an uncoordinated swallow (probably the result of a malformed Glossopharyngeal and/or vagus nerve). This means that he cannot swallow anything lumpier than a fine purée. Anything lumpier gets stuck at the back of his throat causing him to cough, gag and then throw up. The uncoordinated swallow also results in him aspirating his food and secretions into his lungs and has resulted in pneumonias where he has required hospitalisation. His bad swallow means that he does not clear his own secretions and so his nose is always flowing as though he has a heavy cold. The secretions have also caused the Eustachian tubes to block up resulting in the need to insert VT tubes (grommets) in his ears.

Heart:
Raphael has a small Atrial Septal Defect (ASD) (two small shunts) although it has also been described to us as a patent foramen ovale (PFO). This is a minor condition and as many as 15-30% of adults have this and most don't even know about it.

Growth:
Raphael was unable to take enough nutrients by mouth to grow at a normal rate. He used to take a small amount of nutrient rich formula during the day (by mouth) and at night he was fed the same milk while he sleeps by a nasogastric tube (NGT) and pump. He no longer uses an NGT and now drinks nutrient rich formula and eats pureed foods fortified with a nutritional supplement.

In addition he also suffers from gastro-oesophageal reflux which can lead to vomiting and/or aspiration.

Development:
Raphael was delayed and so receives early intervention, lots of parent repetition and one-on-one training with regards to vision, hearing, gross motor, fine motor and language (English, Auslan and Chinese). He is slowly catching up but it is a lot of hard work.

Ears and Hearing:
Raphael has a moderate to severe hearing loss that is currently being managed with hearing aids. Unfortunately his external right ear is malformed and it is difficult to get the hearing aid to fit well. His left ear has a more severe hearing loss having a substantial sensorineural component to the loss.

Balance:
Raphael's Vestibule (Balance organ) is malformed and it is expected that this is not functioning at all. This means that he will have to rely on his vision (reduced as it is) and sense of touch (which may also be compromised in CHARGE affected individuals) to enable him to walk or do anything requiring balance. Despite this Raphael walked at 25 months.

Breathing:
As previously mentioned, Raphael's breathing is somewhat compromised by is uncoordinated swallow, it is also effected by tracheomalacia (floppy skin in airway).

When he sleeps he has short periods when he stops breathing all-together. To manage this he has a CPAP mask that he wears at night. His ears are low-set (which apparently is common in people with genetic disorders) and his head is an unusual shape; this makes it difficult to fit the mask on his head and frequently at night his CPAP machine alarms with a high leak error.

Talking:
[Still need to confirm the medical side of this] Raphael's voice box has excess skin related to his tracheomalacia. I believe that his vocalisations are not age appropriate but I don't know whether it is because he is hearing impaired or whether the voicebox deformity has something to do with it. I suspect that a combination of both factors is reducing his ability to vocalise.

Raphael's growth

2008-06-04T15:00:00.000+10:00

The "R" in CHARGE - Retardation of growth

The following are the details of what we know about Raphael's growth.

Medical Information
Raphael's notable growth and development issues consist of the following:

Diagnosed with Failure To Thrive (FTT) on 30/11/2006.
Endocrinologist is happy with growth and does not think that growth hormones is a good idea for Raphael, but would like to have a thyroid blood test done.
"Significant gastro-oesophageal reflux" (barium swallow report 17/5/2006).
Excessive pharyngeal milk and secretion residue. (ENT 11/5/2006). Contrast pooling was also noted in the barium swallow report of 17/5/2006. There are problems with the IX and/or X nerve (Paediatrician consultation 20/2/2007).
Repeated hospitalisations.
Cannot swallow anything lumpier than a fine puree. All feeds are fortified with complete feed supliments such as "Pediasure".

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

Failure to thrive is an extended period of time as a baby where poor weight gain and other growth deficiencies are noted. From Rapahel's growth charts up to one year old, you can see the points, indicating his weight, curving away from the normal growth spectrum. In addition you can also see the length and head circumference charts also dragging away below the bottom line. Weight is the first statistic to drop when a child is not getting sufficient caloric intake, once length and head circumference are also exhibiting prolonged reduced growth then there is good reason to find a way to get more sustenance.
A baby should grow normally if provided with the appropriate sustenance (including calories). But babies with growth hormone deficiency can exhibit a number of possible effects from having this problem (which include not growing normally). At this stage there are no signs that Raphael has growth hormone deficiency but because he is in a group that is at risk, he will continue to be monitored.
Gastro-oesophageal reflux is usually seen as vomiting, but it refers to the chronic condition where stomach contents occasionally (or frequently) escape the stomach back up into the oesophagus (throat).
Food, fluids and Raphael's own secretions pool at the back of his throat because he is unable to swallow them properly. In addition to this if he eats anything that is lumpy or not fluid enough then the food that gets stuck at the back of his throat agitates him causing a vomit reflex.
Raphael has a number of medical problems requiring him to stay in hospital and be subjected to medical procedures.
All of his feeds have extra calories and nutritional supplements added to them to ensure that he gets the right amount of nutrition and energy in his diet.

The Implications of These Conditions

Need to increase calorie intake

Here are the steps taken to attempt to increase calorie intake:

Introduced strict feeding regime to maximise number of feeds during the day.
Attempted additional breast pumping to increase milk supply.
Attempted supplying entirely pumped milk with added human milk fortifier to increase the calories.
Tried a variety of bottle teats to try to find one that Raphael could drink from the most easily.
Fortified human milk with formula for additional calories.
Special formula "Infatrini" started on 4/12/2006. Migrated to "Nutrini - high energy multifibre" while in hospital in May 2007.
NGT fitted on 4/12/2006 for supplemental overnight feeding through NGT
An NGT is a short term solution and he used one for a long time. It was planned to insert a "mic-key button" g-tube as a more permanent solution but on 9/7/2007 we removed the NGT to see if he would grow without it and after two shaky months he started to gain weight properly by himself.

Reached blue book "3 percentile line" around April 2007.

Will continue to monitor Raphael's weight looking for potential growth hormone deficiency and perform a thyroid blood test.
Raphael's repeated vomiting from the reflux makes it difficult to give him an appropriate quantity of food. We are always walking the fine line of wanting to get as much food into him as we can but not feeding him too much which will result in him vomiting all of it out. Raphael can use sign language to indicate when he has had enough food and he is skilled at knowing when to stop. We find that if we feed him more after he has indicated that he is "finished" then we run a very high risk of him vomiting, even two more spoons might be enough to cause a cataclysmic vomit. To try to stop the vomiting a fundoplication has been ordered for Raphael.
The pooling of secretions and food increases his risk of aspiration pneumonia becuase there is always some loose material near the entrance to his trachea (air pipe). The problem with lumpy foods causing vomiting means that we only feed Raphael puréed foods. However the lack of oral stimulation by not eating lumpy foods is likely to cause problems with learning to speak.
Hospitals are terrible places to feed in. Nurses are generally too busy to provide food at the precise times necessary to maximise his food intake. For example, at home we are able to get about 750ml of milk into Raphael per day but when in hospital we can only get about 500ml in if we work really hard. In addition hospital procedures have required days and days of reduced or no food.
With all the extra calories we are adding to Raphael's food, we have to make sure that Raphael maintains his hydration level appropriately by looking for signs such as clear wet nappies and saliva in his mouth.

Summary:
His growth is ok at the moment and is improving each time we weight him. He is now putting on weight with fortifeid feeds and no longer requires tube feeding.

Raphael will have a thyroid blood test in the future.

Raphael's eyes and vision

2008-06-03T21:15:00.000+10:00

The "C" in CHARGE - Coloboma (ocular)
The following are the details of what we know about Raphael's eyes and eyesight.

Medical Information
Raphael's notable eye conditions consist of the following:

Large right eye compared to his left eye (13/10/2006 - ophthalmologist).
Corneas (13/10/2006 - ophthalmologist) are measured as:

11.5 in the right eye (at the upper limit of the normal range);

less than 9 in the left.

Intraocular pressures are:

right 13/10/2006 (opthalmologist): 19mmHg
left 13/10/2006 (opthalmologist): 14mmHg
right 16/1/2007 (opthalmologist): 23mmHg (no evidence of glaucoma)
right 17/4/2007 (opthalmologist): 21mmHg (no evidence of glaucoma)
left 17/4/2007 (opthalmologist): 18mmHg
right 18/4/2007 (opthalmologist - under GA): 15mmHg

Right eye is mildly hypermetropic (13/10/2006 - opthalmologist).
Left eye retinoscopy suggests some myopia (13/10/2006 - opthalmologist).
Dilated examination (13/10/2006 - opthalmologist) shows:

Essentially normal right eye;
Microphthalmic left eye with posterior staphyloma and excavated morning glory type disc. [the MRI report 18/12/2006 confirms this staphyloma]

The "left optic nerve appears smaller than the right, suggesting optic nerve hypoplasia" (MRI report 18/12/2006)
There is "also cupping of the optic disc / optic nerve head in the right globe also", "but much less severe than on the left" (MRI report 18/12/2006)
Right eye has an inferior chorioretinal coloboma at bottom of eye (5/6/2007 - opthalmologist, second opinion).

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

I suspect that Raphael's right eye is larger than his left becuase of the microphthalmic (genetic small eye) condition of his left eye (see point 6).
The cornea is the transparent covering over the pupil (black bit) and iris (coloured bit) of an eye. The coloured bit of Raphael's eye is larger than the coloured bit of his left eye.
intraocular pressure is a result of fluid in the eye. The normal range of this pressure is between 10mmHG and 20mmHg (mmHg is a measurement of pressure, see Torr). Raphael's right eye is at the upper limit of acceptable pressure. Under General anaesthetic another reading was taken that shows that there isn't a pressure problem. The readings that are taken under GA are much more reliable because normally the eye is squeezed to take the test which can give a higher reading than the actual pressure).
His right eye is mildly far sighted.
A retinoscopy is an objective method of examining some aspects of vision, it does not rely on a patient's response. a retinoscopy showed that the mechanics of his left eye have some myopia (short sightedness).
His left eye

is small (microphthalmic) and underdeveloped;

has a posterior staphyloma: bump on the back of the eye;
has a morning glory disc: a large gouge where the optic disc is (in the internal part of the eye ball where the nerves converge). A morning glory disc is a specific type of optic disc coloboma. Colobomas are common CHARGE syndrome features. I don't have a photo of Raphael's morning glory disc but I have sketched what I think it might look like. With permission, I have also included a scan from the Australian CHARGE association handbook that describes the parts of an eye with a coloboma; and there are some great photos of them here if you want to see what they actually look like in other patients.
. .
. .

Raphael's left Optic nerve hypoplasia is the underdevelopment of the nerve that connects the left eye to the brain. I suspect that this is associated with the microphthalmia but I have no texts or professional advice to support this assertion.
The optic disc is the small portion of the back of the inside of the eye where the nerves converge and exit from the eye ball. The optic disc is a cup shape that is actually a blind spot in vision. "Optic disc cupping" refers to when this cup is enlarged thereby enlarging the blind spot and possibly indicating nerve damage. In Raphael's case the cupping noted on the MRI report is just a different way of different way of describing the morning glory disc.
There is also a coloboma (problem with the retina) down the bottom of his eye which is probably going to reduce his upper field of vision from his right eye.

The Implications of These Conditions

I don't think that there is any inherent problem with Raphael having his right eye larger than his left eye, except in this case the smaller eye is microphthalmic (see point 6).
I am not aware of any implications of the retinas being different sizes (right larger than left).
High intraocular pressure (fluid pressure in the eye) is called ocular hypertension. The risk associated with ocular hypertension is that it can lead to glaucoma which is the loss of retinal ganglion cells (nerve cells). This can in turn can lead to blindness. Because Raphael's right eye ( his only good eye) is at the higher end of normal pressure range, it is important to get his eyes checked regularly in case the pressure builds up.
Far sightedness in his right eye can be corrected with glasses but isn't necessary at this stage.
The short sightedness of his left eye could be compensated for with corrective lenses.
Left Eye:

Some potential issues of his left eye microphthalmia can be mitigated with "Lens correction for refractive errors, often tinted; lighting according to needs, to control glare" (source: spedex)
Raphael's left eye staphyloma is the obvious external sign of the morning glory disk inside his eye. The staphyloma itself is not large enough to cause any mechanical problems; it is the internal component (coloboma) which has the implications.
Raphael's the morning glory type disc (coloboma) is so large that it prevents vision in the upper/central and sides for his left eye (including his macula and fovea). Some simple experimentation while putting an eye patch over his right eye demonstrates that he can only see toys as they enter the lower central field of vision. Further testing at 26 months reveal that his left eye vision appears to be suppressed when his right eye is not patched. When his right eye is patched he has enough left eye vision to allow him to walk and manipulate medium sized objects with ease. Colobomas cause an increased risk of retinal detachment. Detachment is disastrous for vision and can only be detected by expert examination or changes in eyesight for the person affected.

I don't know if Raphael's vision is effected by his left eye optic nerve hypoplasia. http://www.blindbabies.org/factsheet_onh.htm describes the characteristics of optic nerve hypoplasia (ONH) as ranging from "normal visual acuity to no light perception. The effect on the visual field may range from generalized loss of detailed vision in both central and peripheral fields (depressed visual fields) to subtle peripheral field loss."
The cupping of the left optic disc noted in Raphael's MRI is the same as the morning glory disc. See point 6 with regards to the implications of the morning glory disc.
Nothing can be done to repair his right eye coloboma, some people have described that these types of colobomas are like wearing a cap that obscures the top part of vision.

Summary:
"he has very limited or no useful vision in his left eye" (2/2/2007 - opthalmologist). At this stage is appears that Raphael has little practical vision in his left eye and his right eye also may have vision problems in the upper field and is mildly far sighted.

We have been told that nothing can be done to correct the vision problems with his left eye, but there is a good chance that he will have reasonable vision out of his right eye with corrective lenses if necessary.

I have not given up all hope for his left eye yet because I know that he has at least some vision in that eye.

Practical Tests by Behaviour at about 1 year old
Annie and I have performed some practical tests on his eyesight by eye patching each eye in turn and trying to see what he can see by introducing interesting objects into his field of vision.

His right eye seems to have an excellent field of vision and it appears that he can spot toys in the centre, high, low, left and right. He also responds (smiles) to a person who smiles when they are five metres away.

His left eye is hopeless compared to his right. When his right eye is covered he pulls back as though he has been blinded and pulls at the eye patch to try to remove it. This is a very different reaction to when his other eye was covered. His left eye field of vision seems to be very poor. He can only sight toys as they enter the lower central field of vision. He does not respond to anything presented in the centre, top, left, or right of his vision.

When not eye patched and looking up his right eye tracks an object well, but his left eye rolls back and is clearly not even centred on the target at all.

Raphael's ears, hearing and balance

2008-06-01T23:15:00.000+10:00

The "E" in CHARGE - Ear defects and/or hearing loss

The following are the details of what we know about Raphael's ears.

Medical Information
Raphael's notable ear conditions consist of the following:

"The vestibule is enlarged and only 1 hypoplastic semi-circular canal is identified" (MRI 18/12/2006 and confirmed in CT 18/4/2007). I believe that this finding is bilateral.
Vestibule aqueducts could not be identified (CT 18/4/2007)
"on the left side there is soft tissue density material within the middle ear, possible congenital choleseatoma" (CT 18/4/2007). Physical examination by ENT before and after CT scan shows no corroborative evidence of this.
ABR tests (summarised by audiologist 18/4/2007) reveal that the right ear has a predominantly conductive haring loss whereas the left ear has a predominantly sensorineural hearing loss.
VROA tests show functional hearing as:

50-60db loss in his right ear

90-100db loss in his left ear
"bone conduction testing indicates Raphael's hearing loss is conductive in at least one ear" as bone conduction tests gain responses from sounds as low as 15db at 1000Hz and 4000Hz

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

The vestibular semicircular canals are responsible for the sense of balance. As Raphael only has one on each side and they are hypoplastic (underdeveloped), this mechanism is not giving him any input as far as balance in concerned.
The passage through the bone that normally holds the vestibular nerve could not be seen, suggesting that no information from the vestibule is being transmitted to the brain.
The CT scan showed some evidence that there could possibly be congenital cholesteatoma in Raphael's left middle ear. However the ENT said that she did not see any sign of a cholesteatoma and, in addition, the left ear was fluid filled which can appear to be skin on a CT scan; so she does not believe that Raphael actually has a cholesteatoma.
Raphael's hearing loss (determined by Auditory Brainstem Response test) in his right ear is mostly conductive which means that there is a problem with the outer and/or middle ear which is reducing the effectiveness of his hearing. Raphael's left hearing loss is mostly due to sensorineural problems which means that there is a problem with his cochlea or nervous system transmitting the information to his brain.
Raphael's hearing loss determined by a VROA (Visual Reinforcement Orientation Audiometry) test shows a moderate to severe hearing loss.

The Implications of These Conditions

With no sense of balance Raphael will be (and is) delayed in gross motor skills. Raphael is likely to walk late and require physiotherapy and mobility training to help him in navigating routs that other people don't have to think about. Raphael started walking exclusively at 26 months.
Erroneous vestibular nervous information can make the afflicted person very sick with motion sickness so, because Raphael's vestibule is malformed, it may be a good thing that Raphael's vestibular nerve is absent.
Because of the hint of cholesteatoma, Raphael will need to be monitored regularly to make sure that there is no abnormal growth in his middle ears.
Conductive hearing loss can often be resolved by the insertion of grommets, but this has unfortunately not resolved Raphael's hearing problems. Raphael's conductive hearing loss component could be bypassed by fitting a bone conduction hearing aid but this solution is not perfect. Little can be done to resolve sensorineural hearing loss short of a cochlea implant, which would be more damaging to Raphael than productive.
The general hearing loss is being addressed by fitting hearing aids while he is awake. Repeated visits to the audiologist are required to make new moulds as he grows rapidly. His abnormal right ear is also creating challenges in fitting his hearing aid successfully to prevent feedback.

Summary:
Raphael had gormmets inserted on 18/4/2007 and hearing aids fitted shortly afterwards. He wears his hearing aids all the time while he is awake. The exception to this is that we take out his right hearing aid sometimes because it causes a lot of feedback (hich pitched squealing). The problem is that his outer ear is not the right shape and does not have all of the same cartilage that is normally present and able to be used to anchor a hearing aid in.

Raphael is still underdeveloped with regards to his hearing ability. Even though he is receiving amplified sounds, meaning that he should be hearing the same as any other baby of the same age, he has been without an adequate level of sound thus far and his brain has not yet developed the skills to learn how to hear. A hearing specialist is teaching us how to teach Raphael to use and develop his hearing and so we are confident that his hearing will improve.

Raphael's equilibrioception (sense of balance) is hampered by not having a functional vestibular system. Without this, Raphael has to rely on eyesight and proprioception (muscle, skin and joint feedback) to maintain his balance. Raphael finds it difficult to maintain his balance and he often falls over; more so than others of his age.

Raphael's development: physical and mental

2008-06-01T22:30:00.001+10:00

The other "R" in CHARGE - Retardation of development

The following are the details of what we know about Raphael's development:

It is noted that Raphael's brain appears normal from an MRI scan (18/12/2006)
Sensory problems are noted with:

Hearing from ABR (Auditory Brainstem Response) tests and VROA (Visual Reinforcement Orientation Audiometry) tests. See Raphael's ears, hearing and balance for detailed information.
Vision because of bilateral colobomas in his eyes. His vision in his left eye is nearly non-existent but he seems to receive very useful information in his right eye. See Raphael's eyes and vision for detailed information.
Balance from malformed vestibules with only one hypoplastic semicircular canal. Practical experiments show him to slow or no response to to unbalancing circumstances. See Raphael's ears, hearing and balance for detailed information.

At this stage Raphael appears to only be slightly delayed in his development which is appropriate considering his sensory problems. The following are the groups of posts where I have noted (what I think) are significant signs of development.

The Implications of These Conditions

A normal appearing brain is not necessarily a guarantee of normal mental and physical development but it is an encouraging sign.
Raphael's sensory problems are likely to delay his development until he receives technology to help compensate for his sensory problems or until he learns to compensate for one sensory loss by using information from another sense.

Raphael has been fitted with hearing aids and frequent visits to the audiologist are necessary to continue to try to resolve the problems with feedback that we are having with his right ear. The problems are probably due to the lack of definition in his right ear which make it difficult to find anchor points for the hearing aid.
Sadly there is little that can be done for the lack of vision in one eye. If, in the future, Raphael demonstrates that he has some useful vision in his left eye then it may be appropriate to place a patch over his right eye for short periods of time to force his brain to analyse the data coming from his left eye.
Poorly developed balance organs mean that Raphael will have to use different senses to compensate for the lack of balance organs (vestibular semi circular canals). Physiotherapy will play a big role in training his other senses.

I attribute Raphael's (only) slight delays to the excellent therapeutic advice and equipment that he is receiving from ELT (Early Learning Tasmania), CHC (Calvary Health Care), and RIDBC (Royal Institute for Deaf/Blind Children).

Summary:
Thanks to lots of stimulation, Raphael is developing well considering his sensory problems; he has even started to walk at 26 months and has a vocabulary of about 15 Auslan signs. It is encouraging that our hard work is helping him developing well, but this is a double edged sword. It means we need to continue to work hard on his therapies even though we feel drained from the endless appointments and hospitalisations.

Raphael's cranial nerves

2008-06-01T12:16:00.000+10:00

The other "C" in CHARGE - Cranial nerves
The following are the details of what we know about Raphael's nerves in his head.

Medical Information
Raphael's notable cranial nerve conditions consist of the following:

Nerve I - Olfactory nerve - cannot be tested satisfactorily at this age. No comments were made about this nerve on the MRI report.
Nerve II - Optic nerve - Raphael's "left optic nerve appears smaller than the right, suggesting optic nerve hypoplasia" (MRI 18/12/2006).
Nerve VII - Facial nerve - facial palsy evident. "I strongly suspect that infact the facial nerve on the left in congenitally absent." (MRI 18/12/2006). The CT scan (18/4/2007) identifies the facial nerve canals bilaterally.
Nerve VIII - Vestibulocochlear nerve - There appears to be problems within Raphael's left IAM: "on the left side there appears to be one larger (vestibular) and one smaller (cochlear) nerve" (MRI 18/12/2006). The CT scan (18/4/2007) identifies a normal cochlea aqueduct but does not identify a vestibular aqueduct bilaterally.
Nerve IX and X - Glossopharyngeal and vagus nerve - Uncoordinated swallow indicates some problems with these nerves. No comments were made about these nerves on the MRI report.

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

The Olfactory nerve is used for olfaction (the sense of smell). CHARGE syndrome can result in this nerve not working properly. It is not known whether Raphael has a sense of smell and this probably cannot be reliably tested until he is about 8 years of age.
The optic nerve is used for sight. I suspect that hypoplasia (incomplete development or underdevelopment) of Raphael's left optic nerve is related to the problem with his left eye.
Raphael has a left facial palsy (paralysis) due to a possibly absent nerve. The canal through the bone can be seen on the CT scan suggesting that the nerve is actually present. Usually if the canal is there then the nerve is also there.
Raphael's left IAM (internal acoustic meatus) canal (which carries the vestibulocochlea, autidory, or acoustic nerve and the facial nerve) appears to be small. This canal normally carries three nerves, the cochlea nerve, the vestibular nerve and the facial nerve. the cochlea nerve is responsible for transmitting sound information from the cochlea to the brain. The vestibular nerve transmits balance (or positional) information from the vestibule (part of the middle ear) to the brain and the facial nerve controls the muscles in the face. According to an MRI scan Raphael's left vestibular nerve appears to be the correct size but the cochlea nerve appears to be small and the left facial nerve appears to be absent. But according to the CT scan the cochlea and facial nerves appear normal and the vestibular nerve is absent.
The glossopharyngeal and vagus nerves together, and amongst other things control the swallowing function. It is assumed that Raphael has problems with these nerves becuase of his inability to clear his own secretions in his pharynx (back of this throat).

Some interesting websites on cranial nerves:
http://en.wikipedia.org/wiki/Cranial_nerve
http://mywebpages.comcast.net/wnor/cranialnerves.htm
http://faculty.washington.edu/chudler/cranial.html

The Implications of These Conditions

If Raphael has a lack of olfaction then this can result in different desires for food and potentially social problems later on in life.
See Raphael's eyes and vision for comments on the optic nerve hypoplasia.
It is unknown what effect Raphael's left facial palsy will have on him at this time. It is possible that this can result in difficulty eating (as food may escape the mouth), but this is usually only the case when the palsy is bilateral (on both sides). It is also possible that the palsy will effect his speech.
The nerve problems with his cochlea can effect his hearing. I will be more thorough on this topic when and where I compile the information on his ears. Nerve problems with the vestibule effect his sense of balance.
His dysfunctional swallow causes a few problems:

He is unable to properly swallow anything lumpier than puréed sweet potato. Even Mashed potato is too lumpy for him. non-smooth foods will cause him to start to cough which leads to vomiting.
He tires quickly and gets frustrated when eating, making it difficult to provide him with the necessary intake of food to make him grow. He has been fitted with an NGT (nasogastric tube) to provide supplemental feeding overnight to compensate for his poor intake during the day. An NGT is only a temporary measure, if he is unable to start to feed normally by himself then ultimately he will need to have a PEG (Percutaneous Endoscopic Gastrostomy) tube. This may also require a nissen fundoplication (fundo) to reduce the risk of gastroesophageal reflux (like vomiting).
He cannot swallow his own secretions properly. This results in gurgley breathing and a constant flow of mucus from his nose. Uninformed observers would think that he has a heavy cold because of the amount of mucus that comes from him. If he has eaten anything recently then the secretions are the colour of that food (can be very funny). Suctioning can remove the mucus but the mucus flow is back again within half an hour (closest web reference to suctioning I can find is here). He doesn't seem to be bothered by the mucus.
The mucus constantly makes his face damp. This used to moisten the tape that held his NGT (nasogastric tube) down and makes it more likely for him to be able to pull his NGT out. He has no tube now as weight gain is adequate without soon.
Increased risk of aspiration pneumonia. Aspiration pneumonia is an infection of the lung due to foreign material (which can include his own secretions) entering the lung. although antibiotics can be very effective in removing the infection, repeated aspiration pneumonia can result in scarring of the lung which permanently damages areas in the lungs functionality.
The secretions that are constantly in his throat prevent the fluid in his ears from draining properly through the eustachian tube and results in chronic glue ear. This directly causes conductive hearing loss because the build-up of fluid behind the eardrum prevents it from vibrating with sound waves normally. An operation, to insert grommets to drain this fluid, can be performed to rectify this problem; but grommets are self ejecting after 6-12 months and so the operation may need to be repeated a number of times.

Summary:

At this stage we don't know if Raphael has a sense of smell.
His left facial palsy does not seem to cause him any problems at this stage.
His left eye nerve probably does not provide him with useful vision.
His left ear nerve has decreased functionality but still provides some hearing ability.
His swallowing problems have previously resulted in the need for supplementing his feeding with an NGT. There were plans for a PEG, but a successful oral feeding trial has removed the need for any tube feeding.

Special Disability Trust

2008-05-31T07:51:00.002+10:00

We have spent a couple of days investigating Special Disability Trusts. To summarise our findings of them:

They cost a fortune to set up, they are a pain to maintain, the tax law surrounding them is a obscene and they are ridiculously limited in what they can be used for. They are rubbish!

Apparently there are four public servants managing it and there are currently only 10 such trusts set up in Australia.

I am not asking for much. I just want to give some money to my disabled child to ensure that his future is financially secure. But if I do then social security don't recognise that I have done so and the tax office will take the lions share of what I put in.

Mama

2008-05-12T21:15:00.014+10:00

Normally I don't talk about things other than Raphael in this blog but I will make an exception for this.

My mother-in-law (Mama) was in a car accident shortly after 2:00pm on Monday 12/5/2008 (the day after mother's day). Annie and I were attending a future planning day for children with disabilities and Mama was getting ready to run some errands and then pick up our daughter from school. It is not known exactly what happened but somehow her unpowered car came loose in her driveway and she probably tried to stop the car which ultimately resulted in her becoming crushed between the car and the house.

Mama was rushed to hospital and we found out about the accident at about 5:00pm when we got home from the planning day. We rushed into hospital only to find out that we had just missed her. She had been taken into surgery with severe internal injuries and a few broken bones. I rushed back home to arrange babysitting for the kids and the hospital kindly agreed to look after Raphael for the night as he was only just out of hospital and our babysitter was not trained to handle the CPAP machine. After I made it back into hospital to be with Annie, I found her talking with the surgeon who had said that they had done all they could and now they just had to hope that her liver would stop bleeding. We went back to waiting but it was only a few short hours with praying before we were told that she had died.

Annie was Mama's only child and they had a very special bond with each other. Mama also provided us with invaluable help by babysitting our other kids while we took Raphael to appointments. The news was a big shock to us and Annie took it particularly badly. Mama was also the sole carer for an elderly veteran who was a close family friend and her passing means that we inherit the responsibility of care. He has no family who can help him and he has been like a father to Annie in Australia. To our children he is uncle Max, he is the only honorary-family-member that we have.

Max has just sold his house that he and Mama lived in and has bought a new house close to where we lived so they could see more of the children and so that we could help each other more. the new house is in the middle of being renovated and Mama has packed up most of the old house but there is still a lot that needs to be done and Annie and I will have to do that because Max is not able to this for himself.

Mama leaves a memory of generosity and kindness but she will also be remembered for her furious rage that would boil over occasionally. The only reason that I mention this is that the time of her accident matched up with the awful earthquake in southern China on that same day. Her anger could be so enormous that I would not be surprised if her raw anger over the accident was a catalyst for this natural disaster.

The photo here is was when she was about 40 and was her favourite photo of herself.

We will miss her.

in hospital again

2008-05-10T19:08:00.001+10:00

Raphael went in to have his pre-assessment on 8/5/2008 for his upcoming adenotonsillectomy but as he was getting quite sick we took him around to the PACU area to squeeze in to see a doctor to see what they thought about him. Shipping him back and forth between PACU and the pre-assessment area when doctors were ready to see him filled our day.

I felt a bit guilty about turning up to the packed clinic times with people over flowing in the waiting area only to push in line to see the poor overworked registrar. When I told the registrar that I suspected that an x-ray will probably reveal a pneumonia she said "I think that you should really present to DEM (Eepartment of Emergency Medicine)". I responded with a cheeky "Yes but that will take us ages and you are supposed to make special exceptions for people like us (with complicated children)". She took pity and organised a queue jumping x-ray for us which of course revealed a pneumonia.

This wrecked his chances of having the adenotonsillectomy surgery any time soon and instead landed him in hospital for observation for a couple of days. He was discharged on 10/5/2008.

Everyday appointments

2008-05-07T19:07:00.001+10:00

This last month has been very hectic with appointments every day. I have been going to a "magic with music" course to help with Raphael's speech amongst other appointments. I have not had time to have a good scratch and so that is why I have not blogged much lately.

Wife on leave

2008-04-09T19:49:00.002+10:00

Annie and our daughter have gone to China for three weeks leaving me with the boys at home.

She left this morning and so far Raphael has already vomited in the car, just as I was turning onto the southern outlet (a kind of free-way). That was really annoying and it was the stinkiest vomit I have ever smelt him do.

I was tired after a morning and afternoon out with the boys and the last thing that I wanted to do was clean him and the car seat up after we got home but there was no-one else and so I had to do it.

A couple of learning to talk classes

2008-04-08T13:16:00.003+10:00

We have been recently attending a couple of courses to learn to help Raphael learn to talk.

It takes two to talk and Magic with music. They are both courses developed by Hanen.

I personally find the material dull and repetitive but I recognise the importance in the information that they provide and I can see how it is helping Raphael learn to talk.

Australian hearing and signing playgroup

2008-04-07T22:27:00.004+10:00

Another Australian Hearing appointment today confirmed that the grommets are no longer in effect and it looks like he might have more fluid in his right ear. We will have to decide whether we want them to be reinserted during his next operation.

He performed as expected on his hearing tests and new moulds were taken to try to resolve the increasing problems that we are having from feedback (squealing).

It was a long appointment and we arrived at Raphael's new signing playgroup with only 15 minutes left. We had a brash introduction to the teachers there and I was a little disappointed that there was a lot of talking happening there. I was hoping that it might be a speech-free playgroup to encourage Auslan development for the children but there seemed to be more English than Auslan. Maybe all of the administrative work necessitated using a language that most people were fluent with and maybe the quantity of signing will increase next time.

Gross motor skills

2008-04-07T22:05:00.002+10:00

Shortly after we found out that Raphael had a completely malformed vestibular (balance organ) and only monocular vision we were told that we could expect problems for Raphael being able to sit.

Then when he was sitting we were told that there would be real trouble for him to be able to pull to stand.

Now he walks!

He now happily chooses between walking unaided, crawling, and pushing a trolley. He is even trying to increase speed, although this usually ends up with a runaway effect followed by a crash that only a father could laugh at while the mother is not present. Turning is a tricky business and sometimes he has a very wide turning circle involving precariously placed footsteps with near toppling consequences, but he usually doesn't fall over during a turn though.

Two year old Ocupational Therapy assessment

2008-04-03T13:51:00.004+11:00

Raphael had an Occupational Therapy (OT) assessment today and passed with flying colours.

This gives us even more incentive to focus on his communication and gross motor skills which are lagging behind significantly.

Busy day with appointments

2008-03-28T10:54:00.005+11:00

I had a hectic day yesterday, but here I will just talk about Raphael's appointments.

In the morning we had a consultation with a physiotherapist with lots of standing and walking practice. Handling uneven ground and very small steps is the next objective for him now. Also we will try throwing objects while standing up. I think we will be able to find a good game of throwing ping-pong balls at each other while standing.

He is confidently walking with a trolley that I hand customized for him. I added swivel wheels to the bottom of a normal child's walking trolley so that he can swing it around on the ground easily. I made it with some old bed wheels which were quite high and I was planning on going to buy some lower ones becuase initially I thought that it would be too unstable. But now looking at it, I am happy that it is not rock solid as it makes him practice his balance skills more and not just lean on the trolley all the time. He loves it and he seems to be walking with it all the time so I am happy that I spent the time on the modifications.

Later in the day we had an ENT appointment to book in his Adenotonsilectomy surgery for May when his normal ENT returns from being away. One of his grommets has probably extruded (fallen out) and is just sitting in his ear canal. Apparently it can take weeks for a grommet to travel down the canal in normal conditions but putting his hearing aids in all the time might be perpetually pushing it back up the canal and not permitting it to fall out by itself. When he is under anaesthetic for his surgery in May they will have a thorough look and see if they can just be taken away they will also look for any more sign of "glue" in his middle ears.

We also had a meeting with a home care nurse about his CPAP mask. It is starting to get too small and it is tricky to get on him at night without obscuring his nostrils. We had tried a larger one but it gave him a big blister on his cheek. We will try taping up his face with soft tape and giving the new mask another go tonight but I am not confident in succeeding with this.

We were also planning to see one of his intensivists but she was stuck in an emergency case so we abandoned that plan and will proceed without the consult until we exhaust our current CPAP ideas.

Two years old today

2008-03-18T11:37:00.004+11:00

Raphael has made it to two years old. Good-on-ya little buddy! After a near disaster only a few days ago, we are proud that he has made it this far.

His fine motor skills are excellent, but his walking is still designed around crashing and he still uses crawling for his main method of transportation.

He is currently on antibiotics because of his inflamed tonsils and this last year seems to have had more than its fair share of hospitalisations.

His communication is disappointing but we are persisting with communication training courses and Auslan. Thankfully, just recently he has started using some more signs.

We now count 11 signs that we are sure that he is using and a further 4 that he might be using:

finished
more
nappy
ready
go
hello/goodbye
bib
hearing aid
time (bed time)
yummy
safety belt

possible:

turn around
car
pack up
listen

His vision seems to be stable. He can see most things except if they come from his left and he still short grabs some times.

We have been patching his right eye to try to get as much vision as we can out of his left eye before the window of oportunity passes. He is not keen on having his right eye patched and sometimes hides his face when we tell him that we are going to patch him. But he doesn't complain about it any more and goes about his business as usual while patched. He even tries to walk sometimes, while patched, but he is much less competent this way. I like to think that his left eye's vision is improving but we won't know until we do further vision tests. He is extremely happy when we take his eye patch off.

FACSIA Carer Payment review and stories

2008-03-13T21:59:00.003+11:00

Some time ago I filled in a survey on the Carer Payment and was invited to share Raphael's story in a publication to be submitted with the recommendations of the review to the minister.

The recommendations and stories are now publicly available at: http://www.facsia.gov.au/internet/facsinternet.nsf/disabilities/carers-review_carer.htm called the "Carer's Storybook". Raphael has changed a little since then but it is still an interesting read.

Paediatrician and paediatric intensivist

2008-03-13T12:31:00.002+11:00

Raphael weighed in at 10.97kg today. This is a good result! His head circumference is big but he is still very short.

He was a little sick and so the paed gave us a script for antibiotics. She reassured us that his vomit in CPAP two days ago doesn't appeared to have had any detrimental effect on him.

We also talked about our concern over Raphael's speech and she gave us some ideas on avenues we could go down to ultimately improve his communication.

After the consualtion we ran into one of Raphael's intensive care consultants and we had a brief chat about his mask getting to small for him. She kindly went and got a batch of masks that were around his size but there wasn't one that was going to fit him. She said that she would contact her interstate colleagues and see if there was anything that might fit Raphael. In the mean time she gave us a maks that we can attack with some scissors to try to get it to fit.

Vomit in CPAP

2008-03-12T12:20:00.000+11:00

Raphael vomited into his CPAP mask last night and we were lucky to catch it and prevent him from drowning. A number of events conspired against us last night resulting in a near disaster.

Within 15 minutes of putting Raphael to sleep with his CPAP Raphael vomited into his nasal mask and his mouth filled up with vomit to. For some reason he did not sit up or roll over and instead just struggled with no source of air.

The Oximeter alarm went off when his blood oxygen level degraded below 85% but neither my wife nor I reacted to this alarm immediately. I heard the alarm but I was doing some business in the "little boys room" and I expected Annie to go to the alarm. Tonight however we had forgotten to turn on the baby monitor in our lounge room which we need to be able to hear the Oximeter alarm in the lounge room. Our current Oximeter is only monotone and is diffucult to hear in other parts of the house without the baby monitor to relay the alarm sound. In addition to this we get so many "false alarms" that I had become complacent and was happy to complete the task that I was attending to before going to see what was the matter. I was expecting that it was just Raphael having pulled off the Oximeter probe.

As soon as I entered the room though I realized that the problem was much more serious. The room was dark but there was two numbers glowing on the Oximeter his pulse rate and his Blood Oxigen saturation. The pulse rate was on the high end of normal but the other number burned into my eyeballs as 71. Going over to him I turned on the bedside lamp and saw his nasal mask which was full of vomit and his face covered with vomit. He was pulling at his nasal mask trying to take it off and his mouth was opening and closing trying to expel the pool of vomit that was in there.

Yelling out for my wife, I sat him up and ripped off his mask. He sat there for a moment without breathing and then coughed and vomited a lakes worth into the chuck cloth that I grabbed from his bed.

He recovered quickly and after a mop-up and a change of clothes and bedding he was was ready to go back to sleep. Sitting with him on our bed and recovering from the shock, he lent over and gave both of us a gentle stroke on the arm in turn (one of his ways of showing affection). This picked up our spirits immensely.

After we put him back down to sleep I turned the baby monitor on and then called the home care nursing team to let them know of the problem that we had just experienced. They checked with the registrar and were happy with what we had done. We have an appointment with our Paediatrician in two days and mentioned that any aspiration infections will probably start to show around that time so it is important to talk with the doctor then about the incident.

We were lucky that Raphael didn't drown last night.

Raphael's heart

2008-02-29T16:12:00.001+11:00

The "H" in CHARGE - Heart

The following are the details of what we know about Raphael's heart.

Medical Information
Raphael's notable heart conditions consist of the following:

"Mildly dilated right atrium" (This was noted in the preliminary report and removed in the final echocardiograph 26/5/2006)
"Two small low velocity shunts (1.1-1.2 m/sec) across the inter-atrial septum, suggestive of ASD or PFO." (echocardiograph 26/5/2006). "There is a small L-R shunt across the inter-atrial septum, Vmax=1.3m/sec, suggestive of small ASD" ... "ASD/PFO" (echocardiograph 24/11/2006).
"There is a left sided aortic arch. There is no evidence of a double arch." (MRI 18/12/2006)
There is, however, an aberrant right subclavian artery." (MRI 18/12/2006)

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

Given that this finding was removed in the final report I assume that this dilation was so mild as not to be worth commenting on.
An ASD (Atrial Septal Defect) is a type of defect that is commonly referred to as "a hole in the heart". It has been commented that this may in fact be a PFO (Patent Foramen Ovale), rather than an ASD, which is a common finding which may rectify itself with in the first few years of life.
The left sided aortic arch is a blood vessel that pushes on the oesophagus slightly. Fortunately this is not repeated on the other side as well.
An aberrant right subclavian artery is just a rare configuration in the rout of the right subclavian artery.

The Implications of These Conditions

No implication unless it is actually dilated
This reports that Raphael has a small ASD/PFO that seems to have no practical consequences.
I wonder whether the pressure on his oesophagus is partially responsible for his swallowing problems. A double arch could result in a ring around his oesophagus and trachea, choking him and preventing swallowing, but he does not have this.
There are no practical implications of having an aberrant subclavian artery. It is only relevant to make sure that medial professionals are aware of the condition when procedures are being carried out in the area.

Summary:
Raphael does not have any significant heart problems. The minor issues only seem to be relevant to anaesthetists and medical emergencies.

Another new sign: "nappy"

2008-02-28T11:41:00.002+11:00

Raphael as started to sign nappy. He is very clear and he knows what it means but I don't think that he has put together the sensation of having a dirty nappy ad needing to have his nappy changed.

For instance If I tell him that it is bed time then he might sign "time" or "hearing aid" or "nappy" all things that we attend to at bed time. But he hasn't signed nappy due to having soiled it.

Finally signing "more"

2008-02-23T17:02:00.002+11:00

Our first two earnest efforts to get Raphael to sign was with the signs "all done" and "more".

As Raphael always seemed to be "all done" when it came to eating he leared that one very early on. It was his first sign. And so we eagerly kept pushing for him to learn "more" but time dragged on and it didn't look like he was every going to say or sign more.

But all of a sudden here it is "more", spoken poorly, but signed nicely. He has been doing it for a few days now and it is very clear.

Ophthalmologist

2008-02-14T15:57:00.004+11:00

We had a quick Ophthalmologist appointment today.

While waiting for the appointment we noticed some people signing in the waiting room and when I saw one of them comment of Raphael's hearing aids I introduced myself and took the opportunity to practice some Auslan on them.

There is nothing new to really comment on from the appointment except that the Doctor offered to examine the articles that I had found with regards to the benefits of occlusion (patching) with a severely malformed eye. I am looking forward to his reply to my email that I sent to him with the articles.

Intensivist consultation

2008-02-13T23:30:00.000+11:00

We had an intensivist consultation today straight after discharge to talk about CPAP settings, adenotonsilectomy and future possible sleep study.

Finally out of hospital

2008-02-13T15:49:00.001+11:00

Yay, finally out of hospital today with oral antibiotics and an iron supliment. Apparently he has low iron.

Admitted to hospital with pneumonia

2008-02-11T22:14:00.000+11:00

Yesterday Raphael didn't eat anything and didn't drink much all day and vomited what he drank. He hasn't been eating anything for a week now and he has been drinking less and less of his formula each day so yesterday when he had practically nothing I thought I should call the paediatric ward and ask them what I should be looking for with dehydration. The head nurse went to ask the registrar and came back with the asnwer "bring him in to DEM (Department of Emergency Medicine) so that the registrar can have a look at him". I wasn't very happy about this, but when I pushed for my original question to be answered the nurse did not respond well so I brought Raphael into Emergency in the hospital.

On arrival to DEM we noticed that it was quite busy. There was a person waiting in front of us with a bucket. She was obviously very unwell and just in case she was contagious, I moved Raphael's pram around to face the other way away from her. At that moment another guy came into emergency, also carrying a bucket. I shuffled Raphael's pram away from him too but became quite sandwiched between these two sick people. After going through the triage desk I was asked to sit in the priority seats but one look at them saw little space between even more people I was beginning to think that I had taken Raphael into hospital just so he could catch another vomiting disease. I sat a short distance away from "vomit row" and sadistically amused myself by noticing that when one of the poor soles vomited others joined in the chorus.

After only 1.5 hours we saw the registrar and his examination showed that Raphael was only mildly dehydrated and he could go home and stay home if his intake improved tomorrow. Before we left though he wanted Raphael to have an x-ray just to make sure that Raphael didn't have a pneumonia. Well and you know the result of this already... he had pneumonia.

Raphael stayed in last night and he was a little better today, they suspect viral pneumonia but are giving him oral antibiotics as a "just in case" measure. He will probably be in for a few days so they can monitor his condition.

Not happy about language development

2008-02-07T11:36:00.002+11:00

Raphael has been very slow with his language development lately and his new speech pathologist was very unhappy about him only having only about six signs and fewer spoken words.

We are working on doubling his vocabulary by selecting a number of new nouns that are important to him and encouraging/forcing him to sign them before acting on what he wants.

He has made up a new sign where he taps the back of his hand with his index finger. He is starting to use it quite a lot while looking expectantly to us, but Annie and I have yet to work out what it is supposed to mean. I am not sure if he knows what it means either so I think that we'll just force a translate of "shoe" and give him his shoes along with the correct sign whenever he signs his version.

Sick again

2008-02-01T22:18:00.000+11:00

We called a home care nurse out today because Raphael has a bad cough and sure enough later in the day when the nurse arrives his temperature had risen.

Fortunately his breathing is still ok so we wont need to goto hospital... yet...

Walking, wow!

2008-01-30T22:58:00.000+11:00

Home care nurse project review

2008-01-30T18:42:00.000+11:00

Today we attended a meeting to talk with the hospital about the home care nursing. This was an important meeting with a few families and hospital staff involved with the home care nursing team. The goal was to gather information to achieve a permanent home care nursing programme for high needs children.

Injection and bloods at PACU

2008-01-24T20:43:00.000+11:00

Raphael was subjected to some needles this morning involving an intramuscular testosterone injection and taking 12ml of blood for tests (thyroid, haemachromatosis, and CHD7 genetic test).

I am sure that they had previously taken blood for CHD7 genetic testing and I was surprised to see that it had been added to the list of things that blood was being taken for. But when I grilled them about this the kind nursing staff checked the records and could find not find any blood being kept for Raphael's genetic testing so it would have to be done anyway.

He has previously been very difficult to get blood from and I don't think that the registrar who came in to do the job had successfully taken blood from Raphael before. However, this was the most successful time ever and Raphael didn't even vomit when he was distressed about what was being done to him.

Head nodding and shaking

2008-01-20T08:57:00.000+11:00

Raphael has begun to nod and shake his head when indicating yes and no to us. You have to have a sharp eye to notice that he does it because it is over so quickly, but we are now convinced that he is using it as part of his everyday language.

ENT

2008-01-18T20:53:00.000+11:00

Our long ENT consultation to day focused on the Adenotonsilectomy and timing for the surgery given that our ENT will be away for a while shortly. We also discussed his hearing loss and further tests.

New signing skills

2008-01-13T21:38:00.001+11:00

Raphael has just signed some two sign sentences:
"This", "there" (put this in there)
"that", "head" (put that on my head)
"finished", "there" (I am all done, put this pencil away)

Paediatrician

2008-01-13T21:38:00.000+11:00

A one hour consultation involved discussing Raphael's letters, that we have received from the doctors in Sydney. We also talked about his most recent ear infection and more about the possibility of surgery to have his tonsils and adenoids removed.

First optometrist visit

2008-01-07T18:14:00.000+11:00

We saw an optometrist for Raphael the first time today. He spent a bit of time examining the behaviour of Raphael's left eye. We were very happy with the large amount of time that he gave to us but, after careful examination, his summary was the same as what all the other eye professionals have been telling us.

There is little very little research on the benefits of eye patching to improve the vision of an eye with extensive physical defects. Simply there is no chance for the left eye to be visually active while his right eye is so useful to him.

The only benefit that could be achieved in improving the vision in his left eye is that, in the unlikely event of him losing his sight in his right eye, his left eye will at least have the best vision possible.

New communication skills

2008-01-06T20:45:00.000+11:00

Raphael has a new sign "here". He uses it to indicate where you should put the thing that is the current focus of his attention.

He also has a new word that is nearly understandable: "helo", he says "aaaaoooo".

Questions people keep asking us (or should ask us)

2008-01-06T08:00:00.000+11:00

I will slowly modify and add to this over time

Name: Raphael Shalom Bartlett
Birth date: 18/3/2006
Handedness: Right ( I think)

Chief Problem: CHARGE syndrome

Mother and Father: Paul and Annie Bartlett

home phone: ___________________

mobile: ___________________

Important:
before performing any test or invasive procedure on Raphael (including suctioning) try to call me on my home number and work number. We find that Raphael is often given incorrect types of tests because of his complicated situation.

Don't suction Raphael, just wipe his nose. If the secretions are causing him discomfort then just use the suction hub (don't poke the tube up his nose or in his mouth, as this will cause him unnecessary distress).

Allergies:
No known allergies but:

Codeine is a candidate as a cause for a particularly bad oxygen desaturation while sleeping in hospital once.
Raphael is at high risk of aspiration (and aspiration pneumonia) because of his swallowing dysfunction and reflux/vomiting. Do not feed Raphael foods that cause him to vomit (see "Feeding" below)

Sleeping:
Raphael has twosleeps of a day:

Afternoon sleep from about 14:00 to 16:00
Night sleep from about 20:00 to 06:00 with CPAP

Raphael sleeps without a pillow. His airway is less obstructive if he sleeps on his side but he may roll onto either side and/or his back during his sleep. Raphael is used to falling asleep by himself and will do so by himself at his sleeping times unless there is too much stimulation. Before his sleep time, remove his hearing aids and it is generally a good idea to drape sheets over the side of his cot (if in hospital) until he is asleep so that he does not get distracted by the other activity in his room. With the exception of his night time sleep, if he is woken up then it is unlikely that he will go back top sleep.

It is important that he gets these sleeps as they interact with his feeding schedule (see below).

Feeding:
Raphael has been diagnosed with failure to thrive (FTT). He does not voluntarily take enough food to sustain his growth and he is prone to vomiting if he eats too much or the wrong types of foods. For this reason it is important to stick as close to the feeding schedule as possible.

He has two types of feeds:

Puréed/smooth solids with fortification (eg Paediasure)
Milk (Nutrini high-energy multi-fibre) by straw cup

Puréed solids
Raphael can only successfully swallow fluids and highly puréed foods. Other foods will collect at the back of his throat and cause him to cough and vomit. Raphael can manage smooth yoghurt, custard, fruit purée, and puréed sweet potato. Mashed potato is too lumpy and will guarantee a vomit. blend in one scoop of Paediasure for each 40g of purée that you feed to him for fortification.

If Raphael starts to cough then it is possible that he is about to vomit. Always be prepared with a decent sized cloth nearby to catch it.

When Raphael has eaten enough he might sign "finished" by twisting his fists slightly. He may even vocalise "A'da" (all done) as well and refuse food by turning away or pushing the food away.

When Raphael is sick he is less likely to want to eat puréed foods and usually prefers Nutrini.

Milk (Nutrini) by straw cup
Raphael drinks milk throughout the day as he wants it but we offer it to him specifically in the morning, at lunch time and in the evening. He could drink anything from nothing to 200ml depending on his mood.

For the milk feed, allow Raphael to sit up and hold the cup himself. He would like to be able to put the cup on a flat surface that he can reach to drink again at a later time.

CPAP:
Raphael sleeps at night with his CPAP machine to reduce his sleep apnoea. Normally his setting is 8.0 but when he is sick the intensivists usually order this to be raised to 9.0 to improve his blood oxygen saturations.

Our CPAP routine is:

Attach oxygen saturation probe.
fit CPAP mask. Note that the top three straps should be left alone as they don't need to be adjusted and if they are then it makes it harder to fit later.
Turn on CPAP.
When removing the CPAP mask, turn off the airflow and then disconnect both lower straps. Leave the top three straps alone.

Blood Oxygen Monitoring:

Raphael's normal awake blood oxygen saturation is usually between 95%-99%.
When deep sleeping he can desaturate down to 75% and his airway obstructs often. Raphael's obstructions appear to be worse when sleeping on his back and/or if his head is tilted forward.
When sleeping with CPAP his saturations are usually between 97%-100%, sometimes as low as 95%
When Raphael is sick his saturation fluctuates between 85%-93% while he is awake. while he is asleep this can be worse.
When sick and on CPAP his saturations have been measured at around 91%. Adding a small amount of oxygen to the flow (even as low as two litres/minute) can bring his saturations back up to 95%.

Comforting:
If we (the parents) are not on the ward then we will not be far away. Common causes for when he is grumpy:

Been held for too long
Nappy needs changing
Tired
High temperature
Wants something he can't reach
Wants to go down (he may be pointing to the ground if you can find his hand)

Raphael might throw mini tantrums if he does not get something that he wants and is indicating so (by pointing). Distraction may work but this is getting harder as he becomes more stubborn.

Raphael loves to crawl around and always enjoys exploring the playroom.

We recognise that in hospital television is a useful tool to distract children from their problems and it is possible to distract Raphael with television but keep in mind that his moderate to severe hearing loss and left eye blindness can reduce his interest. The following are some tips to overcome this:

Fit his hearing aids.
Make sure he is sitting squarely towards the visual stimulation.
Do not amplify the sound to a level that you think is too loud for yourself; this may distort the sound that Raphael hears.
Even Raphael's good eye (right eye) has a problem that makes it difficult for him to see objects higher than eye level. It would be better if the visual stimulation was provided at his eye level rather than requiring him to look up to see it.

"bed time"
"drink"
"hungry" and "eat"
"Medicine"
"Finished"
"More"
"Tissue"
"Bib"
"Shoes"

Raphael is effectively blind in his left eye and his right eye may have a reduced upper field of vision. Engage him front on and at his eye level to get his attention.

Daily Routine:

~6:00-7:00: Raphael wakes up. We disconnect his CPAP when he wakes.
~8:30: Offer fortified puréed fruit in a bowl with a spoon and Nutrini Energy Multi Fibre (in a straw cup)
~10:30: Maybe hungry again, offer left over purified fruit or fortified custard.
~12:00: Offer fortified yoghurt in a bowl with a spoon with Nutrini Energy Multi Fibre (in a straw cup)
~14:00-15:00: afternoon sleep (sleeps for 1-2 hours)
~16:00-17:00: Offer puréed pumpkin in a bowl with a spoon and Nutrini Energy Multi Fibre (in a straw cup)
~20:00: Night time sleep

Offer Nutrini Energy Multi Fibre (in a straw cup)
Brush teeth

Connect CPAP mask and then turn it on (8.0 normally but sometimes raised to 9.0 when he is sick). Raphael usually falls asleep within a few seconds of the CPAP turning on)

Bathing:
We normally bath Raphael once per week on a Saturday. You can bath him more if you want (eg in case of a huge vomit)

Previous Hospitalisations:

20/11/2008-21/11/2008: Sleep study in Monash
3/7/2008-6/7/2008: adenotonsilectomy
16/6/2008-20/6/2008: admitted to hospital for high temperatures with unknown reason.
8/5/2008-10/5/2008: admitted to hospital for pneumonia.
11/2/2008-13/2/2008: admitted to hospital for pneumonia.
12/10/2007-13/10/2007: admitted to hospital because of upper respiratory infection and swolen tonsils. Constant observations because of possible risk of tonsils closing airway while sleeping.
22/6/2007-25/6/2007: admitted to hospital for upper respiratory tract infection. High temperature was noted on 12/6/2007 but not hospitalised at that time as Raphael appeared to recover.
1/6/2007-3/6/2007: admitted to hospital for bronchiolitis (upper respiratory tract infection).
4/5/2007-19/5/2007: admitted to hospital for possible aspiration pneumonia and CPAP fitting and training.
17/4/2007-19/4/2007: CT scan, grommet insertions, ABR test and eye pressure test under general anaesthetic. Good result from anaesthesia. This hospital stay noted the Codeine incident (see Allergies above).
25/3/2007-27/3/2007: hospitalised for two night sleep study. Study showed frequent and severe blood oxygen desaturations.
21/3/2007-24/3/2007: admitted to hospital for possible aspiration pneumonia.
28/2/2007-1/3/2007: admitted to hospital for possible aspiration pneumonia.
18/12/2006-19/12/2006: admitted to day surgery for MRI scan. Reacted poorly to anaesthetic and hospitalised for one night.
4/12/2006-8/12/2006: hospitalised for NGT placement and training.
18/3/2006: Born in Calvary hospital. Normal full term delivery.

Immunisations:
Up-to-date (as of 11/2/2008).
(he has had his 18 month old vaccinations).

Drugs Previously Taken:

temp list:
Ciprofloxacin (ear drops) - antibiotic for middle ear infection (first taken 31/1/2008)
Prednisolone (oraly) - anti-inflamitory? (used to reduce the swelling of Raphael's tonsins)
Demazin (oraly) - cough management
Paracetamol (oraly) - pain relief
Ibuprofin (oraly) - pain relief
*Codine (iv[?]) - pain releife (*see allergies section)
Amoxicillin (oraly intramuscular[?] and iv[?]) - antibiotic
Ceftriaxone (iv) - antibiotic
Clamohexal Duo (oraly) - antibiotic
Sofradex (ear drops) - antibiotic
local anaesthetic applied along with intramuscular antibiotic
Drying medication for general anaesthetic
General anaesthetic and associated drugs

We lost a hearing aid

2008-01-02T22:12:00.001+11:00

We went to Hobart's summer festival on the 30th of December 2007 and when we were about to go home we noticed that Raphael only had one hearing aid in. I was really tired but I couldn't just go back to Australian Hearing and say that I lost the hearing aid but didn't even look for it.
I didn't think that there was any hope for finding it. The summer festival stretched from parliament house lawns all the way along the docks. I think that I heard that there was an average attendance of 30,000 people per day to the festival but because that was the Sunday I think that there were more. I reckon that there were well over 50,000 people there and some areas were totally packed.

So with this impossibility of finding a needle in a haystack I trudged back along the path that we had walked scanning the ground hoping to see a scuffed, kicked or trodden on hearing aid. I asked stands along the way to locate the areas where lost property was kept. The first lost property that I found didn't have it, only an umbrella, a hat and a coat.

I was just about to give in but there was another lost property place to check and so I knocked on the the little temporary police hut's door. As I stepped in asking "has a baby's hearing aid been turned in..." I saw it sitting all by itself in the middle of the desk. It was in perfect condition, not stepped on, scuffed or kicked about; amazing! I had found some of my family during my search and they had joined in the hunt; when I showed them my success they were also amazed.
Apparently it was found on the parliament house lawns where we started our day in the festival. Interestingly I did not even look on the lawns because I thought that I had seen him with both hearing aids after we had left them but thank goodness someone picked it up and handed it to a policeman.

It was much quieter on the lawns by the time I took this photo as all of the activity had moved down to the docks.

Wow new skills

2007-12-27T21:45:00.000+11:00

Raphael loves to show off and when there is a big audience he is at his most adventurous. He has to get over the initial shy factor first but then watch out for exciting new things from him.

On this one extended family gathering Raphael signed Hearing aid when it was whistling.

He then demonstrated how to push it in to stop the feedback.

And then to everyone's amazement he stood up! Well only for a split second, but it was the first time that he had even tried to do it. He tried again and again until he managed to be on two legs for two seconds. After that it became a game to intentionally fall over and then laugh so that was the best he managed for that day.

I have finally updated the sydney trip post

2007-12-27T15:48:00.000+11:00

For those of you who have been waiting patiently for the Sydney trip post to be updated, your lucky day has come. http://raphaelincharge.blogspot.com/2007/11/trip-to-sydney.html has been updated and I ave added a number of photos for the last three months of posts.

Computer expert

2007-12-27T13:54:00.001+11:00

Check out his developing strength and balance allowing him to push up onto his tipi-toes. The Paediatric CHARGE specialist, that we saw on our Sydney trip, referred to his gross motor development as remarkable.

Dear Teacher

2007-12-25T15:19:00.000+11:00

An example of Raphael's vision and gross motor development

2007-12-23T21:34:00.000+11:00

Another leaking ear inefction

2007-12-22T19:44:00.000+11:00

Raphael's chronic ear infection is leaking scum again, this time it is particularly thick, dark and bad smelling but he is still in a good mood and so does not appear to be in any pain at all. His hearing aid is not clogging up with this because I think that it is too thick.

General status summary

2007-12-15T21:08:00.000+11:00

I think that it would be a good idea to have a general update for those people who want to know what is going on with Raphael.

He used to have a sticky eye problem with narrow or blocked tear ducts but that seems to have gone away now. He uses his vision well even though his left eye has no central vision at all. His vision has been tested as 6/30 in his right eye (where 6/6 is the equivalent of 20/20), this is normal for his age and his right eye is expected to improve. Every ophthalmologist has told us that his left eye will not improve even with patching "occlusion" but we are trying it anyway (for about an hour a day) because I have read a couple of articles that suggest that there might be hope even when there is severe eye malformations.

He still has frequent copious secretions from his nose that need regular wiping attention.

He is still unable to swallow anything lumpier than a fine purée. Anything lumpier will send him into a choking coughing fit that ends in a vomit.

He still suffers from sleep apnoea at night (stopping breathing). But when he is connected to his CPAP machine this entirely prevents the problem.

It is planned for him to have surgery to have his adenoids and tonsils removed which is expected to reduce, or even possibly cure, his sleep apnoea. This is still waiting for our ENT doctor's approval but this is expected to be a formality. We have our next ENT appointment on 17/1/2008.

Raphael is no longer using a feeding tube and has been eating enough to keep his paediatrician very happy, even though his dietician isn't always in the same mind.

His hearing seems to be worse than first expected but his hearing aids are serving him well at the moment and he is starting to try to copy words that we say. We have finally found a way to keep his hearing aids in and have much less feedback which is good. He has been having very frequent colds and these infections can cause his grommets to extrude gross puss from his right ear. This is his best ear for hearing but unfortunately his hearing aid keeps getting clogged and so does nothing for him.

Raphael's talking seems to be poor for his age, he still mainly only vocalises grunts. Having said this, his communication skills are excellent. He always makes his desires clear with body gestures, noises and props. In fact I would go as far as to say that his communication skills are so good that we can probably start to work on some of the more detailed skills of communication such as negotiation. This is a good thing because it is safe to say that Raphael's negotiation skills are extremely poor.

An early intelligence assessment test has shown that Raphael has cognitive abilities in line with his age. This is not a precise test but can give some indication of his mental skills.

Raphael can crawl very skilfully now, climb up on furniture that is not too high, cruise around furniture and transfer to different objects, walk with someone holding onto him, or using a trolley, and stand as long as he has a third point of reference (whether it be holding something or leaning up against something). I think that the next stage of standing unaided will be the real challenge because he has no depth perception and his balance organ (vestibular semicircular canals) are completely malformed.

Raphael's fine motor skills have advanced considerably. Initially he was diagnosed as "delayed" then after some time "slightly delayed" and recently his OT said that he was now "advanced".

Raphael still experiences parasomnias where he sits up in his sleep. He has started to also do other things in his sleep which are more annoying such as incessantly screaming (presumably night terrors), he sometimes stops if we turn him to another side or turn his CPAP off and back on again, but not always. He also sometimes pulls off his oxygen monitor in his sleep, this is a real pain because then an alarm sounds and inevitably he makes such a mess in getting it off that it takes us quite a while to get it sorted again before we can put it back on him again. It is nice that it is summer though, it is easier to get up at least three times a night when it is warm rather than cold. The frustrating thing is that he happily sleeps through the whole night, it is only becuase of his "beeping" equipment (pun intended) and sleep screaming that we are woken up.

Speaking a word for a goal

2007-12-09T18:13:00.000+11:00

Today Raphael said "U! u! u! u!" (as in "Up up up up') indicating tghat he wanted to be lifted up to his high chair.

This is the first time that he has said an understandable word (not just a grunt) to ask for something that he wants.

Advanced fine motor skills

2007-12-07T20:56:00.000+11:00

Raphael has been improving his fine motor skills lately. So much so that this Occupational Therapist has gone as far as to say that his fine motor skills are now advanced for his age.

This is amazing. He started off with people calling him delayed, then slightly delayed. We were then warned that his development will be adversely effected by him not being able to participate in eating finger foods. But now his OTs say that he is advanced for his age.

We have ready that early intervention is very successful for CHARGE kids and it is nice to be able to say that Raphael is turning out to be one of these success cases.

Well done my boy!