People with Fragile X - FAQs
Why is it called Fragile X Syndrome?
Under a microscope, a defective X chromosome looks broken where the FMR1 gene is disrupted and mutated; it looks "fragile1."
Is there a test for Fragile X Syndrome?
Yes, there is a test available which can detect both fully-afflicted individuals as well as carriers of a Fragile X chromosome. Although it can take several weeks for results, the test is available through most physicians1.
Is there a cure?
No. However, with more research and understanding, there is a chance that one will be found.
What treatments are available?
A variety of medications and behavioral interventions are used in an attempt to address individual symptoms of the disease. Drugs currently used in developmental disorders primarily focus on treating specific symptoms such as anxiety, or improving and controlling behavior. While some of these compounds may improve function to a limited degree, the poor efficacy of drugs used to treat Fragile X results in a vast unmet medical need. There are currently no drugs approved by the U.S. Food and Drug Administration to enhance cognitive function of people with developmental disorders.
How can Fragile X Syndrome affect the family of a patient?
Caring for a child with Fragile X can be stressful on all members of a family because a large amount of time must be dedicated to caring for the patient. Because Fragile X is an inherited disease, there is a chance that other children from the same family may also be affected. Genetic counseling is important to discuss for future generations.
Where can I find more information on Fragile X?
There are a number of resources available for families facing Fragile X including your child’s pediatrician and patient and family advocacy organizations such as the FRAXA Research Foundation and The National Fragile X Foundation.
1FRAXA.ORG |
