Diagnosing 22Q

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22Q is a genetic condition that's been notoriously hard to pin down, because each person shows very different symptoms. Now researchers have found a simple way to diagnose it.

Jasmine, now 12, was born prematurely and had feeding problems as an infant. As she got older; developmental delays and scoliosis, as well as ADHD.

Veda Brown, Jasmine's mother says, "Around eight months she was tested at CHOP: The Philadelphia Children's Hospital and then they detected the 22Q deletion."

Jasmine received speech, occupational and physical therapy. But when 22Q is not diagnosed early, parents may become frustrated. 

Donna M. McDonald-McGinn, MS, LGLC, Director of 22Q and You Center, Children's Hospital of Philadelphia says "We have one patient here whose son actually saw 27 sub-specialists before coming up with unifying diagnosis at age five." 

The 22Q missing gene can manifest in cleft palate, heart disorders, autism and more.

McDonald-McGinn says, "With those genes missing, they send out a signal I want the heart to form a certain way; the thymus controlling immunity; the parathyroid gland which control calcium and the parathyroid hormone, and they really set things up to go in a certain direction." 

Veda Brown says,"She's diagnosed with ADHA. And, so, she's a busybody and I work with that."

This devotion to jasmine's well-being is critical to her life success.

Veda Brown says, "I will work with her all the way through college and prepare her for life.  I believe she'll be able to go on her own. She'll be able to drive a car, work a job, go to college because I'm investing in her and preparing her for that."

If you've noticed any of the symptoms of 22Q in your child, doctors recommend having your child tested with a simple blood test. 

 

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