Just attended the global Charge conference which comes along every 2 years.
The room was full of 600 people all having gone through the same catastrophic event as us.
In summation, this is what we're having to deal with:
DeafBlind - although Reuben has sight, he'll relate with this community because of his total deafness Walking - an average walking age of 3 Neurological - an unknown degree of mental delay even though the MRI scan shows his brain looks normal, you just can't tell Growth - retarded, will need hormones which can in themselves cause scoliosis Feeding - likely to be on Gtube for a few years but hopefully will be weened off one day Heart - had a basic heart op on Friday, originally to occlude the PDA, panic as what they went in to fix didn't need fixing and called me up from the garden to fix something else instead.. they've put a balloon in his aortic valve to open up the narrowing pending his major heart surgery this year to fix the large hole, a smaller hole and the narrowing to his lungs.
Currently the surgeons won't touch him as he's just only 4.25k
The Dr called whilst at the conference to say that an attempt at post-extubation had lead to an upper airway obstruction from swelling, basically, his airway closed in once the ventilator was taken out. He was unable to breathe. He went blue, they had to do emergency re-intubation. The Dr who apparently wears his heart on sleeve said "I was pretty scared". Not something you really wish to hear from a Dr. They'll try again on Tuesday to extubate him, ie remove the breathing tube.
Positive to come from conference - that these kids and adolescents have been through so much but have made it. Some are wheelchair bound, some have autistic like tendencies, one is off to university studying biology and that is the greatest inspiration. Yet we just don't know.
Met the Dutch geneticist who discovered the CHD7 mutation. Unfortunately Reuben doesn't test positive for this. In order to check what he has, we'd have to do an expensive DNA test which takes months and then if we were able to conceive again through IVF, would test those embryos from the same mutation. No two kids with Charge have the same genetic abnormalities.