The Dycus family, of Rockingham, participated in this year’s “22q at the Zoo” event, held at the NC Zoo in Asheboro.
The event was part of a worldwide awareness day, sponsored by the International 22q11.2 Foundation, Inc. Sarah Dycus, a teacher at LJ Bell School, served as the coordinator for the event in Asheboro.
Dycus is the mother of three sons. Her five-year-old, Zachary, has 22q11.2 Deletion Syndrome.
“This is a small deletion in the long arm of the 22nd chromosome at the q11.2 region,” said Dycus. “22q11.2 Deletion Syndrome can cause almost 200 symptoms and it can affect every system of the body.”
Dycus said her family participated in the event to help raise awareness about this little-known disorder. She said the years leading up to the discovery that her son had this disorder were difficult because her son had so many health problems, but no cause could be found.
“He had a weakened immune system when he was younger,” she said. “He’s had respiratory problems. He has had hundreds of ear infections, and five ear surgeries. He’s had difficulty with his hearing and with his speech.”
Countless trips were made to numerous doctors and specialists, who all tried to treat his many physical problems - but none seemed to know what was causing them.
“Last July, his ENT (ear, nose and throat specialist) suggested that we do a blood test for the 22q disorder,” she said. “Despite the hearing aid and speech therapy, my son was just not physically able to make some words.”
The test yielded results that shed new light on the years the family had spent trying to help their son.
He was diagnosed with 22q11.2 deletion. The other form of the disorder can result in an extra piece, or duplication, of the chromosomal material.
As a result of this disorder, about 50 genes are either missing or extra. Missing or extra genes in the body can affect many of the body’s systems and functions.
According to the Foundation, common abnormalities associated with the disorder include: heart defects; palate differences; low calcium and thyroid problems; feeding, swallowing and breathing problems; developmental delays and behavioral problems.
“After he was diagnosed, it was suggested that we have his heart checked,” said Dycus. “We discovered that he does have a heart defect but, thankfully, it does not affect his heart function.”
Dycus said she hopes to raise awareness about this disorder.
“It just seems that someone should have thought to test him for this - all those years we were going to the doctors,” she said. “But I really think that not enough people know about it. I don’t think it even occurred to anyone that it could be a 22q disorder.”
Dycus said that with the diagnosis has come improved health care.
“His health care is now being directly supervised by a geneticist, who understands how treatments relate to this disorder,” she said. “I believe his overall health care would have been much better if we had known about this early on.”
The mother said she hopes that more patients who are potentially suffering with this disorder will be tested sooner.
“The more people who know about 22q, the better able we are to help detect, care for and discover a cure for those who are afflicted,” said Carol Cavana, board chairman of the Foundation.
For more information on the disorder, or the Foundation, visit www.22q.org.
— Staff Writer Kelli Easterling can be reached at 910-997-3111, ext. 18, or by email at email@example.com