Fragile X Syndrome Support Group
Fragile X Syndrome is the most common inherited cause of mental retardation, and is associated with autism. The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 4000 males and 1 out of about every 6000 females.
Hi, my son just got diagnosed with Fragile X. I have an appointment with his genetisist next month to talk over everything. All I know at this point is the blood test tested positive for Fragile X. NO one in my family tree has any kind of disability. My son is the only one. So when he was born everyone was surprised and wondered how or why he was special needs. He's my 3rd oldest, I have a total of 6 kids, 2 boys and 4 girls. Until he was diagnosed I had never even heard of Fragile X. So I'm as clueless as they come. The more I read the more I'm confused. Like, I'm a carrier because I'm his Mom? Carriers have fertility issues? I've gotten pregnant and had 6 kids without even trying. So this confuses me. Carriers go through menopause early? I'm 34 and show no signs. Also, are ALL my eggs effected? Or is it a luck of the draw and some of my eggs have the gene and some don't? Do carriers have health/mental problems? And as far as my son, I was reading that when they hit adolescence that they can become more symptomatic. Does this mean that he will have more problems? Will he regress in all the progress he's made? He's now verbal and slowly catching up to some of his peers. Will he lose that when he start adolescense? Does anyone on here know how they are as adults? Can some lead fairly normal lives, graduate, get married, have kids?
I'm sure the geneticist will be able to clear things up for you when you meet. You are a carrier, but that does not always mean fertility problems (obviously, that has not been your case) but it is something that many carriers face, sometimes not until they are a bit older. In simplified terms, only half of your eggs are affected because you have two X chromosomes. Also, in simplified terms only about 20% of carriers go though "early menopause" You could have passed carrier status to some of your other children, so it would be a good idea for them to be tested before they plan their own families. There is also the chance your daughters could have a full Fragile X mutation and just have virtually no symptoms.