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YOUR HEALTH: “The most common syndrome you’ve never heard of”

PHILADELPHIA – It`s been called "the most common syndrome you've never heard of."

22q, also known as DiGeorge Syndrome, is notoriously hard to pin down because each person shows very different symptoms.

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

"Around eight months she was tested at  the Philadelphia Children's Hospital and then they detected the 22q Deletion," explained her mother Veda Brown.

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," said Dr. Donna McDonald-McGinn, director of Philadelphia Children's Hospital's 22q and You Center.

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

"With those genes missing, they send out a signal I want the heart to form a certain way," said Dr. McDonald-McGinn.

She says that includes the thymus, controlling immunity; the parathyroid gland, controlling calcium; and the parathyroid hormone.

"And they really set things up to go in a certain direction."

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

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," her mother vowed.

"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."

BACKGROUND: DiGeorge syndrome, also known as 22q11.2, is a chromosomal disorder that results in poor development of numerous body organisms. The syndrome can cause a whole array of problems such as heart defects, poor immune system function, a cleft palate, and low levels of calcium in the blood. The name 22q is given because of the missing piece of the 22nd chromosome. The deletion occurs 1 in every 2,000 to 4,000 live births. The deletion is not hereditary and parents without the deletion are not at an increased risk. However, the parent does have a 50% chance of passing the condition to the offspring with every offspring.   (Source: http://www.22q.org/about-22q/faqs/22q11-2-deletion/#4 )
(Source: http://22qfamilyfoundation.org/what-22q/22q-overview )

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at jim.mertens@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.