Raphael's current issues and actions

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

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

1. 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

1. 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)

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

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

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

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

Signing and speaking progress

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.