Fragile X and FXTAS

Our very close friends and former next door neighbors moved to Florida more than 20 years ago, but we are still close. Sophie has two kids, Nina and Matt. Nina is married to Parker and has a son, Josh, now 20. Josh has Fragile X syndrome, a genetic disorder that manifests itself similarly to autism/mental retardation/developmental disorders, etc. Fragile X has only been studied since it was identified about 20+ years ago. Since then, of course, much research has been done about the syndrome and about the kids identified with it. Of course, many adults have it, too, but years ago they only went as far as to identify that these people had special needs, never fishing for a very specific cause. That being said, almost all of the literature out there is about Fragile X kids, not adults.

Our friend Sophie, now in her early 80's, developed some mobility, balance, and dementia-like issues very recently, and after being misdiagnosed with no specific cause first, then Parkinson's second, they finally found out the real culprit. She was tested, and she carries the Fragile X gene, but does not have Fragile X syndrome. Her daughter Nina also carries it, but does not have the syndrome, either. Because Nina's son Josh has Fragile X syndrome, Nina did some networking and found a doctor in California who is doing research on just this topic - the grandparents of Fragile X kids having dementia-like or Alzheimer's-like symptoms later in life, coming on suddenly. It turns out that there is a definite link, and the problem is called FXTAS. It took such a long time to find this information because there is so little info out there about Fragile X kids' parents or grandparents at this point. It was important to identify the exact cause, of course, because it determines the proper treatment.

So why am I telling you about this? Because it seems that there are probably a lot of older adults out there who are affected with symptoms that are automatically attributed to Parkinson's or Alzheimer's when, in fact, they are actually exhibiting symptoms caused by the Fragile X gene. If you know kids with Fragile X syndrome, you might want to let their families know about this information since it can potentially be an issue for the kids' parents or grandparents. A simple DNA test for Fragile X syndrome will tell if a person is a carrier.

The website which explains a lot is http://www.fragilex.org/html/fxtas.htm. There is also a great organization called FRAXA that has been supporting Fragile X research right from the time when this disorder was identified. You can find the site at www.fraxa.org.

As I've said for many years, the best information is always gleaned in the parking lot after a PTO meeting. Moms know this well. It's all about networking, sharing, and connecting, so from my virtual "parking lot," I wish you all the best, and hope that you or someone you know might benefit from this information.