Author Archives: hcps-sowersme

Fragile X- Sowers, Shamim

Our friend Jenny has had a three year old son, Harry, who has been diagnosed to be abnormal. It was very shocking to find this out as we have known Harry since he was born, and never thought that such a thing would be found in him.

We have all noticed that he has unusual features; his ears are peculiarly large, and his face extends to an abnormal length. Also, we noticed that he started to crawl significantly later than other children his age. Although many infants have soft skin, for Harry, he is likely to have soft skin not only because of his infancy, but because of this condition. His joints are unusually flexible and his muscles lack the regular tone that other, regular children have. He also has a bigger forehead than people normally do, and a prominent jaw.

Unfortunately, based on these symptoms and further diagnosis, Harry’s doctors have come to the conclusion that he has Fragile X, which does not have any treatment; however, Harry can be helped towards education with specialized training. Last week, Harry’s parents had his doctor conduct a blood test with his blood; the blood was analyzed to have the FMR1 gene, which indicated Harry having the disorder, Fragile X. This disorder occurred because of a gene mutation in Harry’s X chromosome. Harry is likely to develop behavior problems, which can negatively affect him in school; behaviors that we have witnessed from Harry include hand biting, which is a common symptom of Fragile X. ADD is an example of a behavioral problem that Harry may have. We hope that Harry’s behavioral problems do not greatly affect his learning in school, and that he is successfully able to learn and perform efficiently. There may be specialized people appointed to work with people with Harry if needed, and give him support in learning and performing in school.

While currently there is no cure for Fragile X, there are a number of treatment centers that work with supporting people with this disorder. An example of a treatment center is the Cincinnati Fragile X Research and Treatment Center located in Cincinnati, Ohio. Harry and Jenny live just ten minutes away from this center, which makes it convenient for them. We ask and hope that all students respect Harry as well as others with disabilities and treat them rightfully and accordingly based on their special needs. As Harry is a male, he was more likely to develop the disorder than if he were female, as males have a higher chance of having the disorder effective rather than females do;  the FMR1 genes are certain to be effective on males, but females with Fragile X  may not display behavioral problems, or show physical symptoms. We hope the best for Harry, and that he and his family live happily, despite him having Fragile X. Fragile_x_syndromfragile x