22q11.2 Deletion (DiGeorge Syndrome)

today we got the unhappy news that baby Kit has 22q11.2 Deletion syndrome. we had suspected it, since heart defects and kidney defects are both symptoms. about 1 in 4000 babies are born with 22q, though doctors suspect the number should be higher–many people live their entire lives undiagnosed, since the symptoms can be varied and mild. most people with 22q only have some of these most common symptoms:

– heart defects (Kit has this)
– kidney defects (Kit also has this)
– cleft palate (this wasn’t visible in the ultrasound, so if she does have it, it isn’t on her lips)
– feeding issues (newborns)
– immunity problems
– low calcium
– developmental delays

And there are more issues that affect smaller percentages of 22q kids (hearing problems, anxiety, bad at math, etc). From what other parents of 22q kids have told me, it isn’t worth it for me to research all the different things that could be wrong, but I should just take up her issues as they / if they come. The heart defect is certainly issue #1 for Kit, and by far the most threatening.

The geneticist i spoke with today said that early intervention–speech therapy, occupational therapy, physical therapy–is tremendously helpful with these kids and most symptoms of 22q are treatable and that most 22q kids go on to become functional members of their families and society. as daunting as it is to know that baby kit will have so many hurdles to face, i have a lot of hope for her as well.

if you are interested in learning more about 22q, I feel like this video from the 22q foundation sums up what I’ve gathered is the most common experience of kids with 22q.

 

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