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).
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.
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.
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.
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.
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 toreduce the swelling of Raphael's tonsils)
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.
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.
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.
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.
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
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.
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.
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:
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 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.
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.
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.
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.
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
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.
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.
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.
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.
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.
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).
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].
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.
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.
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.
(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.
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).
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.
Tuesday: Speech Pathology
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.
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.
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 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.
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.
