About Fragile X Syndrome

Fragile X Syndrome is a lot like autism, except that it is genetic.  As in, it can be diagnosed with a blood test.  Autism can't.  It's very cut & dried that way.  On the other hand, it's a spectrum disorder just like autism, meaning that you could be barely affected or severely affected.  About 1/3 of the people diagnosed with Fragile X Syndrome also are diagnosed with autism.

The symptoms are similar:

~developmental delays
~gross and fine motor skill delays
~speech and language delays
~learning and behavior problems
~hyperextensible joints
~anxiety
~OCD
~hyperactivity
~hypo or hypersensitivity
~cognitive and mental impairment

hyperextensible joints

Just because you've probably never heard of it doesn't mean it's rare.  It's really not all that rare; it affects one in 3600 boys and one in 4000 girls.  One in 800 men are carriers of the gene that causes it.   One in 260 women are carriers.  Recent studies suggest that it might actually be one in 130 women.  It's hard to tell because most of the time, you don't know you are a carrier until you have a child with it.

It's almost as common as Muscular Distrophy and Cystic Fibrosis.  It's THE most common inherited cause of mental impairment.

It's caused by a gene on the X chromosome.  It's only on the X.  So if your mom is the carrier, you have a 50/50 chance of having it.  If your dad is the carrier and you are a boy, you are home free.  If you are a girl, you will be a carrier.  It's pretty simple.

How might it feel to have Fragile X?

"Picture having to live in a video arcade with the volume and wattage up full, where everyone around you is racing past, speaking Mandarin at the top of their lungs. Your shirt feels like Brillo, your shoes like cement, and the breeze on your skin like the thwack of a soaking towel that's been left to chill in the fridge."
PAUL SOLOTAROFF
Copyright 2006 The Observer. Source: Financial Times Information Limited - Europe Intelligence Wire.

If you are particularly scientifically minded, you might get something out of this:

I'm not.  I get more out of this simple list that two fine ladies (who I had the pleasure of meeting in person at the last Conference) put together, a few years ago.
The Top Ten Things You Should Know About Fragile X Syndrome:
by Mary Beth Langan and Sally Nantais, July 2006

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 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.
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 Foundation

http://www.fraxa.org/, Fraxa Research 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 sallyN423@WYAN.org.

A You Tube video I made talking about the similarities between Fragile X and autism, and a some pictures....

Some good books I've found on, or about Fragile X:

• X Stories: The Personal Side of Fragile X; by Charles W. Luckmann and Paul S. Piper (I found this really tough to get through.  Not recommended for the newly diagnosed and still adjusting.)
• My Brother Has Fragile X  by Charles Steiger (A great positive story for children!)
• The Oak Leaves by Maureen Lang (Totally recommended for the newly diagnosed.  Excellent story.  Fiction, but tells the story of Fragile X better than anything else I've read.)

Fragile X Resources

(This list was compiled by Sally Nantais, I just copied it.)

Websites
Your Genes Your Health
http://www.ygyh.org/ - fragile X page

FRAXA Research Foundation
http://www.fraxa.org/

The National Fragile X Foundation
http://www.fragilex.org/

GeneTests
http://www.genetests.org/ - a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. Select “GeneReviews” do a search on FMR1 or FRAGILE X to pull up information on Fragile X

FXTAS
http://www.fxtas.org/

Dr. Marcia Braden – when it comes to behavior Dr. Braden is an expert.
http://www.marciabraden.com/

Developmental FX
http://www.developmentalfx.org/

Videos
First Down Towards a Cure
www.youtube.com/watch?v=BgcQi0bbaJQ

Fragile X - Hitting the mark
www.youtube.com/watch?v=-6-J_YcVRi4

Living with Fragile X – a documentary
http://www.livingwithfragilex.com/

In layman's terms:
Time Article – Fragile X: Unraveling Autism's Secrets
http://www.time.com/time/magazine/article/0,9171,1818268,00.html

Time Article – A new approach to correcting autism
http://www.time.com/time/health/article/0,8599,1696451,00.html

Promise Seen in Drug for Retardation Syndrome
www.nytimes.com/2010/04/30/health/research/30fragile.html?ref=research

Medications:
Advances in the treatment of Fragile X Syndrome
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2888470

Medication Guide for Fragile X
http://drmikespsychiatryblog.blogspot.com/

Research:
Seaside Therapeutics
http://www.seasidetherapeutics.com/

Clinical Trials
http://www.clinicaltrials.gov/

The Fragile X Research Registry
http://www.fragilexregistry.org/