My son and Fragile X testing

Well this past Monday I talked to my son's doctor and she had gone over his chart and no testing had ever been done, so she ordered the test for him and we went an got his blood draw on Wednesday. He was a trooper and did really well. He didn't wiggle (which is hard for him an ADHD kid) and he didn't flinch or cry. I am proud of him. The blood has to be sent out to our local children's hospital about a 100 miles away and we should know in a week or two if he has fragile X. If he does I am going to request that my daughter gets a genetic screening to see if she is a carrier. We will cross that bridge if my son is in fact diagnosed with the syndrome.

Fragile X Syndrome

The Top Ten Things You Should Know About Fragile X Syndrome
by Mary Beth Langan and Sally Nantais, July 2006

It’s genetic.

If a woman is a carrier, she has a 50/50 chance of passing it on to her son(s) or daughter(s). 1 in 100 to 200 women are carriers **.

If a man is a carrier he will pass it only to his daughter(s), and they will only be carriers. 1 in 800 men are carriers.

Fragile X Syndrome does not discriminate; it doesn’t care which ethnic group you belong to.

Fragile X Syndrome is a spectrum disorder. Symptoms may vary from mild learning disabilities (including shyness and social anxiety) to severe cognitive impairment (mental retardation).

Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a neurological disorder that can involve tremors, balance irregularities, difficulty walking and dementia which sadly is often misdiagnosed as Parkinson’s and/or Alzheimer’s. This condition is present in some older FXS carriers (typically after the age of fifty), usually in males but FXTAS can also affect female carriers.

There are minor physical traits noted in many persons with Fragile X Syndrome, but not in all. These are traits which may also be present within the typical population, nothing unique which would necessarily indicate FXS testing is necessary for your child.

When testing for Fragile X Syndrome (FXS), it is critical that the correct tests are ordered – the Fragile X DNA (Southern Blot) and Polymerase Chain Reaction (PCR) tests. Inaccurate results occur far too often with the generic chromosomal panel. Test for FXS to obtain a diagnosis or to rule it out. If you don’t have what may be the correct diagnosis of FXS, then you will never be aware of improved treatments or the cure when it’s found.

Where to go for the most accurate and up-to-date information on fragile X syndrome:

http://www.fragilex.org/, the National Fragile X Foundation

http://www.fraxa.org/, Fraxa Research Foundation

http://www.conquerfragilex.org/, Conquer Fragile X Foundation

** American Academy of Family Physicians, News and Publications, Vol. 72/No. 1 (July 1, 2005) http://www.aafp.org/afp/20050701/111.html

Mary Beth Langan and Sally Nantais are both Fragile X Syndrome carriers; each have a son with Fragile X Syndrome and autism. They can be contacted at mblangan@hotmail.com and sally_nada@juno.com

I took this from this page:
http://fragilex.wordpress.com/the-top-ten-things-you-should-know-about-fragile-x-syndrome/

Fragile X syndrome

I took my son to the doctor today to have his normal ADHD check up and she brought up the subject of genetic testing. She asked if any had been done on him. I said no. This is what she thinks he might have. I doesn't change who he is but would give some answers to all of the issues he has been having.