It’s been a difficult 12 days. It was 10 days ago that we received the news that Enfys has Di George Syndrome. We were completely stunned. We had never heard of Di George Syndrome before… Since the diagnosis, I’ve spent time learning about DiGeorge Syndrome and what it could mean for Rainbow.
Di George Syndrome, Velo-Cardial Facial Syndrome, Shprintzen’s Syndrome and CATCH-22 are all known variants of 22q DS (22q Deletion Syndrome).
22q DS is believed to be the second most common chromosome abnormality after Downs Syndrome.
22q DS is also believed to be under diagnosed with estimates of people with the deletion being between 1:2000 to 1:1800.
There are almost 200 anomalies caused by 22q DS… with individuals experiencing around 30 symptoms during their life, on average.
22q DS is a spectrum disorder; one person could have many severe symptoms while another has only a few minor symptoms. There is no correlation between the severity of one symptom and the severity of another.
The most common symptoms of 22q DS are heart defects, speech & language delays, poor immune system, feeding problems, palate problems and facial features.
22q DS is no-one’s fault… In around 90% of people with 22q DS it is a random ‘copying error’. I’ve likened it to a photocopier missing out the odd letter on a page of text.
Perhaps the most frightening part of a 22q DS diagnosis is that no-one can give you answers. There is no way of telling if a baby will have developmental delays, autistic tendencies or speech and language problems other than to let them grow.
Rainbow’s biggest problem (aside from the low muscle tone and feeding issues) is her immune system. I will go into the immune deficiency once her complete immunology report is back but it looks like Rainbow has around 20% of immune system they would expect to see in a baby of her age.