Fragile X Syndrome
In the Spring of '98 I was told that my son had Fragile X Syndrome and that it was inherited usually from the mother. Having never heard of it and not knowing it even existed I began looking into it. It is part of our DNA make-up and through DNA testing I have since found out that all five of my sisters are also carriers and some of their children also have the Fragile X chromosome. We inherited it from our father for two reasons. One, there are two different mothers involved, and two, if a man has a fragile x chromosome all his daughters will have one. I am going to explain this in my own words and way because that is how I finally came to understood what had happened.
The X and Y chromosomes are part of everyone's DNA. They are what make us female and male. The X chromosome produces a protein that is necessary for our bodies to have to be able to function properly. The female has two X's and the male has one X and one Y. In the female, if one of the X's is a Fragile X the second one can and usually does compensate for it and there are fewer if any problems. The male with only one Fragile X has nothing to compensate for the problems. On the Fragile X there is a chain made up of links and the number of links determines whether one is a carrier or has the Syndrome. Scientifically they are called CGI Repeats.
50 to 200 links are carriers
200 to 2000 links have the syndrome
There are cognitive, physical, and behavioral characteristics.
mental impairment, ranging from learning disabilities to mental retardation
attention deficit and hyperactivity
anxiety and unstable mood
autistic-like behaviors
long face, large ears, flat feet, and
hyperextensible joints, especially fingers.
The range of intellectual involvement ranges from subtle learning disabilities and a normal IQ, to severe mental retardation and autism.
speech and language delay
Behavior ranges from socially engaging and friendly to autistic like and occasionally aggressive.
They can become easily overwhelmed by sensory stimuli such as crowds or an irritating noise
Hyperactivity is characteristic of the boys with the syndrome
Poor eye contact, hand flapping, hand biting, and fascination with spinning objects are common autistic like behaviors
Impulsive or anxious behavior, gaze aversion (does not like direct eye contact), and aversion to being held or touched can be displayed
The Fragile X Research Foundation is trying to reproduce the missing protein synthetically and when they do some day those affected can take it and lead a normal life. It would be similar to a diabetic taking insulin.
There is no cure but there are guides to the most affective medications, educational guidelines, individual program plans, support groups, and genetic counseling for the family.
You can find out much more and in greater detail at these links:
The National Fragile X Foundation
FRAXA Research Foundation
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