Raising awareness for a genetic condition that is not widely known about
BRUNSWICK COUNTY, NC (WWAY) — Many people are unfamiliar with a disorder called 22q11.2 Deletion Syndrome or 22q. Which is also known as DiGeorge Syndrome or Velocardiofacialsyndrome (VCFS).
November is 22q awareness month, but most people have probably never heard of it.
22q is the second most common genetic disorder behind down syndrome. It happens when a person is missing a piece of their 22nd chromosome.
Genetic counselor Chandler Myers says there are several notable symptoms of 22q.
“Heart defects, cleft palate, people will often have learning or behavioral differences including autism. They might have immunodeficiency and low calcium so there is a laundry list but there are definitely some that we think of as much more common,” Myers said.
Mercy Little was diagnosed with 22q syndrome when she was 7-and-a-half years old.
“I was like huh,” Mercy reacted.
Mercy battled a number of health issues, that at the time were believed to have no relation to each other, including being born without a thymus gland, her knees dislocating, broken bones and weak muscle tone.
She struggles with everyday things.
“Math…walking…”Mercy said.
Her grandmother, Milissa Little, says Mercy takes several medications as part of her treatment.
She says she’s making it her mission to spread the word about 22q.
“If you have a child or even an adult who has several unrelated issues or several diagnoses. Then Google 22q, be informed and if you cross off the box with a couple say 2 or 3, 4 or 5 of the boxes I would definitely recommend to get a genetic test and rule it out at least,” Little said.
Little found a worldwide movement called “22q at the Zoo Worldwide Awareness Day” that meets at the North Carolina Zoo in Asheboro.
This was the first time the family had met others with 22q.
“She felt confident and happy that she had met other people, and she wasn’t the only one. We got to see a visual picture of a community of 22q people who were affected and their families and get to discuss things with people. It was a great experience for all of us,” Little exclaimed.
Little said she’s blessed to have her as a granddaughter.
“She’s so good when it comes to just dealing with the medical procedures and she’s really an amazing kid, I’m proud of her,” Little stated.
Myers adds they have started to give pregnant women a blood test to test for 22q. Myers also said that they have access to a lot of great medical professionals for patients with 22q.
Little adds they are thankful for the stores in the area with “Caroline’s Cart” so Mercy can join for the grocery shopping trips. Also, for all of those who have cared for Mercy over the years.
There will be a fundraiser to support Mercy and 22Q of the Carolinas at Chick-fil-A in Shallotte on Tuesday November 19th, be sure to mention 22Q.
22q fundraiser (Credit: Milissa Little)
