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Family trying to raise awareness about special disorder

Families from as far away as Italy are flying into Syracuse to meet specialists for a common genetic disorder that many people have never heard of.
Syracuse (WSYR-TV) – Families from as far away as Italy are flying into Syracuse to meet specialists for a common genetic disorder that many people have never heard of.

Upstate Medical University and Syracuse University are now partners in a budding research center for 22q Deletion Syndrome.

After years of watching her daughter, Ashlyn, struggle in school, Karyn Ratliff of Brewerton decided to consult a specialist. Two years later, she finally got an appointment and a diagnosis at the 22q Center in Syracuse.

"I knew it just wasn't learning disabled, speech problem, poor muscle tone. I knew there had to be an underlying issue,” said Ratliff.

Specialists believe that one in 4,000 children are born with the disorder, caused when genetic material on chromosome 22 is missing. There's no cure, so early diagnosis is crucial.

"The problem is that it presents itself so variably that it is often missed for five, 10 or more years before somebody trips to the idea,” said 22q Center Medical Dr. Robert Roger Lebel.

Many patients have a major heart defect. But, others have palate abnormalities or gastrointestinal problems; some have immune deficiencies, or maybe learning disabilities. Speech and language problems are common, as well as delayed growth, and low blood calcium levels. The list of potential medical issues is long. Patients could exhibit one or many problems, making it difficult to connect the dots.

Raising awareness is a significant challenge.

"You'd be surprised how many educators don't know about it. I mean until two weeks ago, I'd never heard of it. When they gave me the diagnosis I said ‘What? What is it called?’ It was a number,” said Ashlyn’s father, Gerald Ratliff.

Infants are not regularly tested for 22q unless they have a high risk symptom.

"I do believe that newborn screening is important and they have developed a technique that is less than $5, but it has not yet been approved by the Department of Health and Human Services,” said 22q Center Upstate Clinical Director Eileen Marrinan.

Across the country Marrinan knows of just a handful of full service centers specializing in 22q Syndrome. Within the past year, she's tried to expand the Syracuse office, which has a network of specialists to help with testing.

The partnership with Syracuse University offers better evaluations for behavioral problems, while doctors at Upstate Medical University focus on medical issues associated with the disorder.

With a diagnosis, Ashlyn's parents can fight for access to more services at school as budget cuts threaten funding for special education programs. Their next goal is to encourage teachers, parents, and more doctors to keep 22q on their radar.

"If they had done this blood test on her when she was born, we would have known eleven years ago,” Karyn Ratliff said.

Because there are so few 22q centers in the country, it can take months to get a full evaluation.

To make an appointment, call (315) 464-6590 or email 22q@upstate.edu.

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