2 year old update: Izzy had her annual genetics appointment on 7/12/23. The geneticist was super happy with Izzy and her progress – no extra labs needed, no new specialists to add, and she won’t have another 22q checklist item to mark off until she turns 4!
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At Izzy’s 1 year old genetics appointment, we learned something extremely fascinating! In addition to her having 22q11, our girl is also a carrier of TANGO2, another genetic mutation of the 22nd chromosome. TANGO2 causes seizures, but because Izzy is only a carrier (which means only one of her DNA strands is affected), her seizures are still deemed triggered by her low calcium. And although her future children, if she chooses to have them, do have a 1 in 2 chance of inheriting 22q, they would only be at risk for TANGO2 if on the very rare occurrence her partner was also a carrier. Did you know that EVERY SINGLE PERSON is a carrier of at least three or four genetic conditions?! We typically are never made aware because there’s so many gene disorders out there that it would be pretty miraculous to end up with a partner who is a carrier of the exact same mutation to pass it on! Crazy, right?! 😱
And as of 8/8/22 when she had her annual genetics blood draw, there is nothing new to note or worry about!
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1 year old update: Izzy will see her geneticist for her one year old appointment on July 11th! 🧬
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As 2021 comes to an end, there are no changes with genetics.
We have email contact with Izzy’s geneticist whenever necessary or whenever we have questions. She is a wonderful and knowledgeable source. We are scheduled to see her annually, so for 2022, Izzy’s appointment will be around the time she turns 1, but if we ever want to meet in person outside of the annual check-ins, she is willing. If Sterling and I ever decide to be tested ourselves for 22q11.2 deletion syndrome, she is who we will go to.
Izzy’s genetic disorder is 22q11.2 deletion syndrome (also known for her symptoms as digeorge syndrome). There is no cure and there is a shortened life expectancy, but we are blessed and grateful that we caught Izzy’s symptoms so early on and that she is trending in the right direction despite of her diagnosis.
