Q: What is life like taking care of someone with Fragile X Syndrome?
A: In my family, there are 3 adults and 5 children affected by Fragile X Syndrome. Similar to Autism, there is a spectrum related to Fragile X so individuals can be severely affected or have mild symptoms. I am 1 of 4 children. Three of us are carriers of the disorder (my sister, brother and me). My sister has two children that have the full mutation. Her boy is more affected than her girl (many times that is the case because girls have XX chromosome and therefore have the second X to counteract against the bad X). My brother’s daughter is a carrier. When the gene transfers from father to daughter it does not “expand” and so she is a carrier like her father. I have two boys that both have the full mutation.
My boys and my sister’s son will need full time care for the rest of their lives. They have significant cognitive delay and have varied sensory issues (like sensitivity to light, food textures, clothing, smells, etc)
My sister’s daughter (full mutation) and my brother’sdaughter(carrier) will live “normal” lives but have a 50-50 chance of passing on the bad gene to their children. They may have to consider alternative options like chromosomal sorting and invitro fertilization.
As carriers, my brother, sister and myself could be affected with FXTAX…….you can read about that on the web.
Q: What kinds of treatments have you used in helping someone with Fragile X?
A: Research is working on many new drugs that look promising for treating Fragile X. It is very promising that researchers may find a cure since only one gene is affected, unlike other disorders like Down Syndrome that involves many genes and is more complicated. Helping Fragile X will also help other disorders like RET Syndrome, Alzheimer’s, and Huntington’s Disease. For now, we rely on speech therapy, occupational therapy and physical therapy.
Q: When did you find out that they had Fragile X?
A: My boys were diagnosed with Fragile X when they were 3 and 1. We knew they were “behind” other kids but did not know it was a genetic issue. It was a shock.
Q: What organizations have helped you expand your knowledge about this disorder and/ or helped you when you first became aware of the disorder?
A: Two sites you should check out are FRAXA.org and fragilex.org. One is the research organization that I do a fundraiser for and the other is the National Fragile X Foundation which is an education based organization.
Q: Are there any national fundraisers for Fragile X Syndrome?
A: There are many fundraisers happening around the world all the time. On April 12 I will be hosting a fundraiser with 6 other families in the Columbus area. It will be held at St. Charles (Walter Commons) in downtown Columbus from 7-11. We do this fundraiser every two years. Our last event raised $70,000! You are welcome to come! You can see it on the fraxa.org website.
