posted by: Ann Pietrangelo at Care 2 Make a Difference
Fragile X Syndrome is the most common cause of inherited intellectual disability affecting an estimated 1 in 4,000 males and 1 in 6,000-8,000 females.
It is not contagious or the result of a particular behavior, but is passed from one generation to another. Fragile X is a group of disorders caused by a mutation in a gene on the X chromosome. It may be carried by both males and females and can be diagnosed through DNA testing.
Article on Fragile X Awareness Day
Males who have fragile X syndrome usually have some degree of intellectual disability that can range from mild to severe. Females with fragile X syndrome can have normal intelligence or some degree of intellectual disability with or without learning disabilities. Autism spectrum disorders also occur more frequently in children with fragile X syndrome.
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There is currently no cure for Fragile X. Diagnosis, education, and intervention (speech and language therapy, behavior therapy, physical therapy, etc.) can greatly improve the lives of those affected. In some case, medication is also beneficial. The physical, emotional, and financial impact on the family is profound.
I can attest to the profound impact of having a Fragile X individual in our family. Before Fragile X was identified, we knew something was wrong with my brother when his development in all areas was significantly delayed. I’ve written about this before, and reiterate that despite the tremendous challenges our family faced in caring for a profoundly mentally retarded child, particularly when there were few programs and resources available at the time, we also appreciate the many blessings his life has brought us. I will say this again: mentally retarded individuals are some of the most loving people on the planet, and our lives have been wonderfully enriched having known them.
When I was in my twenties, long after our family had come to recognize that my brother was mentally handicapped, we learned that his disability was a result of a newly identified syndrome known as Fragile X. I was advised to get genetic testing done. Although no Fragile X was found, I was still given a 50% chance of having a child with this disorder, given our family history and relatives affected. This was before In-vitro fertilization, so I chose not to have children. Growing up with a child that forever remains a child was enough to satisfy my maternal needs. He wasn’t toilet trained until around 10 or 11. And although my parents made sure that I participated as much as possible in a normal childhood, Timmy’s needs took precedence over all other, out of pure necessity. For example, we never went out to eat as a family and the few times we did, (like when we were traveling) someone had to stay in the car with Timmy eating their meal as take-out. He was just too unmanageable in public. I usually volunteered. As with any one or two year old, he required constant supervision--for the 19 years he lived at home.
My senior year in high school I won third place among 300 participants in an interpretive reading contest. My parents weren’t at the final competition of the 10 finalists. I was sorry, but understood completely. They needed to be home with Timmy. My tennis partner and I won District Doubles for the first time in school history. I was disappointed my folks weren’t there, but I understood their absence wasn't because they didn't care. I was grateful that they let me participate in extra curricular activities knowing that they could have used my help at home.
Because of my maternal instincts, I developed an almost mother-child bond with my brother, and to this day, I have taken the role of primary caregiver and legal guardian. ( My parents are deceased.) While he lives in a State School, I am his main family contact and responsible party, a role which I gladly and happily accept. I am eternally grateful for the care he receives, and know that I would not have been able to have a career and life of my own, were it not for the State School. Which is why I am one of hundreds of advocates for keeping our State Schools open and funded appropriately---a constant battle against those conservatives who believe there is no such thing as good government programs.
By bringing Fragile X into the awareness of the public and lawmakers, I am hopeful that services for these individuals and their families will be properly funded.
I know there are many more pressing issues, but if you link to the article you can send a quick and easy form letter asking your representative and senators to Support House Resolution (H.RES.611) and to cosponsor the bill if they have not already done so. And if we keep fighting for universal health care, maybe one day the challenges families face in raising children with Fragile X will be greatly reduced.
The resolution "urges physicians and health providers to utilize available diagnostic, developmental screening and surveillance modalities to better diagnose Fragile X-associated Disorders, private and public health insurance entities to provide full coverage for these diagnostic tools, and the National Institutes of Health (NIH) and related member institutes to fully implement the NIH Research Plan on Fragile X Syndrome and Associated Disorders."
Although he turned 50 this year, Timmy is still my “little brother.”