The Griffin Adventures: Fragile X

Tuesday, November 4, 2008

Fragile X

Dear friends and family,
We need your help. This blog has been a collaborative effort both to inform you about Fragile X and also for us to be encouraged by your interest in Brody. Brody is an awesome kid and everyday there is a new beginning for him. Today at school he worked with his behavior therapist. Behavior therapy has so far been the one thing to make a difference. Also, if you could lift him up in prayer until he can get insurance coverage, we would be so blessed. He has been sick all week with typical FX symptoms. He has a high pain tolerance and never complains so we don't know how bad he really feels. Tonight he went to bed early. Please continue to educate yourself on FX and let me know of any other blogs or websites that you visit that would help Brody.

4 comments:

theotherlion said...: Hi! So nice to meet you!!!! I do pray Brody starts feeling better soon.; November 6, 2008 at 8:05 PM
Anonymous said...: I hope Brody is better soon and that you get insurance asap. It's not fun to have to pay for all the doctor visits our kiddos need; November 7, 2008 at 1:47 AM
Kristiem10 said...: Hi! I found you through Erika's blog. I have two boys with Fragile X. Visit us at lifewithmyxmen.blogspot.com; November 7, 2008 at 5:23 AM
Anonymous said...: I found you through Erika. Welcome to the FX Blog World. I have 2 out of 3 kids with FX. Welcome to the "family".; November 7, 2008 at 8:14 AM

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The Top Ten Things You Should Know About Fragile X Syndrome

By Mary Beth Langan and Sally Nantais

1. It’s genetic.
2. 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 **.
3. 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.
4. Fragile X Syndrome does not discriminate; it doesn’t care which ethnic group you belong to.
5. 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).
6. Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.
7. 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.
8. 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.
9. When testing for Fragile X Syndrome (FXS), it is critical that the correct tests are ordered – the Fragile X DNA (Southern Blot) and PCR analysis. 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.
10. Where to go for the most accurate and up-to-date information on fragile X syndrome:http://www.fragilex.org/, the National Fragile X Foundationhttp://www.fraxa.org/, Fraxa Research Foundationhttp://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 has a son with Fragile X Syndrome. They can be contacted at mblangan@hotmail.com and sally_nada@juno.com