The Most Common Syndrome You've Never Heard Of: 22q

PHILADELPHIA, Pa. (KFSN) -- It's been called 'the most common syndrome you've never heard of.' 22q deletion, also known as DiGeorge syndrome, can create lifelong physical and mental issues. This genetic condition is responsible for the missing part of the twenty second chromosome. But doctors can now diagnose 22q, meaning earlier intervention and a much better quality of life.

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.

"Around eight months she was tested at CHOP: the Philadelphia Children's Hospital and then they detected the 22q deletion." Jasmine's Mother, Veda Brown explained to Ivanhoe.

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

"We have one patient here whose son actually saw 27 sub-specialists before coming up with unifying diagnosis at age five." Donna M. McDonald-McGinn, MS, LCGC, Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania, Chief, Section of Genetic Counseling, Director of the 22q and You Center, Associate Director, Clinical Genetics Center at the Children's Hospital of Philadelphia told Ivanhoe. (Read Full Interview)

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

Dr. McDonald-McGinn continued, "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."

Brown explained, "She's diagnosed with ADHD. And, so, she's a busybody and I work with that."

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

"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," Brown stated.

If you've noticed any of the symptoms of 22q in your child, doctors recommend having your child tested with a simple blood test. Getting an accurate diagnosis could provide you not only peace of mind, but the early intervention techniques that can help your child.

For more information on this report, please contact:

Donna M. McDonald-McGinn

mcginn@email.chop.edu

215-590-2920