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Martha and Fragile X

Dear we the sibs:

Glad there is a place for sibs. I have a brother with fragile x symptons. I have been tested to see if I was a female carrier. My test came back negative, a stunning, unexpected surprise gift. The experience taught me that life has its good and bad, NO MATTER WHO YOU ARE! Everybody has challenges in life. With me it was facing fragile x, with others it is something else. Fragile x is one of the most common inherited conditions. I think only color blindness out ranks it in occurance. ONE IN 259 women carry the x linked condition called fragile x. When a male inherits full mutation fragile x, severe developmental delays, autistic type behavior and sometimes seizures can result. Some females carriers also suffer symptons, but they are usually much much milder than the ones seen in males.

There is a test a woman can take BEFORE she has children that can alert her if she is a carrier. But most women find out about fragile x when a doctor tells them that their sons are not developing (reaching milestones such as walking and talking) because of fragile x. Most children with fragile x start to show obvious symptons from two to three and one half years. Many children and adults with fragile x have yet to be diagnosed. Physical symptons can include flat feet, elongated face, double jointed fingers, and large ears. NOT ALL SYMPTONS ARE SEEN IN ALL FRAGILE X MALES. Some fragile x males are able to to get employment and almost live independently once adults. But many require custodial care.

There are two good websites for fragile x. The National Fragile X Foundation helps educate families about the condition. Another one is FRAXA. FRAXA funds promising research that may someday help fragile x males learn and be independent. I donate to both. FRAXA is managed by parents of fragile x children.

Thanks for reading my letter. If anyone reading it thinks they may have a relative with fragile x, please please discuss it with a doctor WHO KNOWS ABOUT FRAGILE X. Seriously consider getting tested. The direct DNA analysis can find most fragile x chromosomes. There are rare variations of fragile x (about 3 per cent of fragile x cases are the rare variations.) But the other 97 percent can be found by Direct DNA Analysis, a test available since 1991. The test is a simple blood test, but make sure the lab tech puts it in the right container. The lab tech at my doc's office who did mine made sure by looking it up in the book. She knew about fragile x; I was her first fragile x test. I also called the lab to make sure they knew. They knew.

Fragile x is starting to get some publicity. But not enough. I was and am on a list serv for parents of fragile x males. About every month someone writes "this is my first time on the fragile x list serv. My doc just told my spouse and me that our three year old son has it. We are just starting to learn everything we can....."

It is for this person that I am trying to reach as many people as I can. I have sent countless brochures and booklets on fragile x to newspapers, politicians, local doctors, and relatives. I send fragile x booklets in with bills and last halloween handed out fragile x brochures to trick or treators and their moms.