A DNA test about twelve years ago told a local mother why her baby wasn’t developing normally—he had fragile X syndrome. It’s the most common inherited cause of medical disabilities in children, and the most common genetic cause of autism.
Brendan Hockey has both, and for more than a decade, his mother, Gina has been trying to help him live the best life he can despite his disabilities. Now 13, Brendan enjoys playing with toys. He especially likes trains, but his attention can quickly switch. Brendan mainly communicates through sign language and his Ipad.
His mother says, “If you get around him you always know what he wants, so his receptive language is very strong, it’s his expressive that’s difficult. like when he’s sick he can’t tell you what hurts on him.”
One of Brendan’s major issues is anxiety, and Gina says medication helps, but as puberty kicks in, she’s been looking for other strategies.
“Now that he’s getting older, it’s getting harder. Sometimes, it seems like it was easier when he was little, but you always have something in his life that he struggles with,” she explains.
That’s why Gina turned to the Geisinger/Bucknell Autism and Developmental Medicine Institute, also known as ADMI. The institute has one of only 30 Fragile X Centers of Excellence in the country.
ADMI Associate Director Brenda Finucane says, “A major focus of what we do is to try to allow every child to reach his or her potential.”
ADMI uses the genetic basis of disabilities and other testing, to help determine which strategies work best for each one. The institute employs a team of neurodevelopmental pediatricians, genetic counselors, speech language pathologists, behavioral analysts, and psychologists to help children and their families.
Finucane says, of parents, “They often come and are hoping against hope that they’ll be told that your child’s going to outgrow this that it’s not anything that they need to be concerned about and very often that’s not the news they hear and it’s very difficult for them in the beginning.”
She adds that there’s a wide range of abilities in children with these different conditions and how well they progress often depends largely on their families and schools.
Gina says the behavioral and other strategies have e been helping , and, in lieu of a cure, she and Brendan are doing well.
“He’s happy. He’s healthy. I mean, it could be so much worse. He is not in any pain. The strategies, it takes lot of time, but at least some day he can be a little more independent than he is now.”
Brendan’s been involved in clinical trials aimed at replacing the protein, missing in children with fragile X, but so far, none have been successful. ADMI is part of an international effort searching for a cure for fragile X.
The institute is in Lewisburg, Pennsylvania , but after initial visits to the clinic, its specialists come to Geisinger officers in State College to treat patients like Brendan.
