Guess what Raphael did

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

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

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

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

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"

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

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"

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

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

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

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