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It's the most common inherited cause of mental disabiilties in children and the most common known genetic cause of autism, but may never have heard of Fragile X Syndrome. Neither had a Clearfield County woman. She knew something was wrong with her baby boy, but shocked when she got the diagnosis.
Through a type of sign language, Gina Hockey communicates with her six-year old son, Brendan. He doesn't speak and he's not potty trained, but he loves to jump with his four-year-old brother Keagan.
Jumping is fun for both boys, but for Brendan, it's also therapy, helping with his muscle tone and balance.
Brendan has Fragile X Syndrome. Keagan does not. Both boys had a 50% chance of inheriting the disorder from their mother, who inherited it from her mother. Both women are carriers of the disorder, but were unaware of Fragile X before Brendan was diagnosed.
As a baby , Brendan wasn't reaching the normal milestones and a blood test, when he was about one finally identified the problem. His mother remembered, "I had no idea what it was. My first thing when I got the phone call was what is this?"
He'd been born with a mutation in a gene which normally produces a protein needed for the brain to develop.
According to Gina, "right now he's happy as a little lark, and he smiles. Being non-verbal, he's not aggressive. "
He suffers from anxiety, but one of his favorite activities helps: horseback-riding therapy. Certified hippo-therapist Robbie Ball began working with Brendan about a year ago. He's learned how to follow her directions. He knows he needs to wear a helmet to ride the horse, and he has to get a small set of steps in order to mount.
Afterwards, he brushes the horse which will improve his ability to use his hands.
What's ahead for Brendan? Gina is encouraged. She says, "his brain is still developing, so that can make drastic changes with Brendan. So we're just going to wait and see, but he's made huge progress."
Gina and her parents spend a lot of time working with Brendan and he also learns by watching and mimicking his younger brother. In addition, Brendon undergoes aquatic, . speech and occupational thearpy.
For more information on Fragile X Syndrome.
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Comments
My son now is 14,single parent, there are rough periods as with any child, but that is normal and one can get through it.
There is also many Fragile X Clinics, one in Pa (Pittsburg) and one in Akron Childrens Hospital in Ohio.Dr. Delahunty,
even see adults.
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