Thursday, 27 December 2007

Wow new skills

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

For those of you who have been waiting patiently for the Sydney trip post to be updated, your lucky day has come. has been updated and I ave added a number of photos for the last three months of posts.

Computer expert

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.

Tuesday, 25 December 2007

Saturday, 22 December 2007

Another leaking ear inefction

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.

Saturday, 15 December 2007

General status summary

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.

Sunday, 9 December 2007

Speaking a word for a goal

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.

Friday, 7 December 2007

Advanced fine motor skills

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!

Saturday, 1 December 2007

Meeting a lovely CHARGE family

By chance, someone at our church was taking with one of their work mates and found out that they had a child with CHARGE syndrome over 10 years ago. Unfortunately the child only lived four months but he has left a lasting memory with the family.

Today we were blessed with the opportunity of meeting with the family. They were lovely and showed us an album of photos that they had of their child. We talked for hours and we look forward to an oportunity to see them again.

I believe that the probability of knowing someone, who knows someone that has CHARGE syndrome are quite high. If I assume that I know one hundred people and each of those people knows another one hundred unique people then I calculate there to be 64% chance that one of those people will have charge syndrome. Calculated as follows

n=assumed number of unique people an individual person knows

c=assumed chance of having CHARGE syndrome


h=chance of knowing at least one person who has CHARGE syndrome
=sum[i=1 to 100] c*(1-c)^(i-1)

k=chance of knowing
at least one person who knows at least one person has CHARGE syndrome
=(sum[i=1 to 100] h*(1-h)^(i-1))+h

I hope you can forgive my make-do mathematics without access to the necessary symbols and positioning.