Fragile X Syndrome is a condition in which the X chromosome contains a mutation on the FMR1 gene, affecting 1 in 4000 males and 1 in 6000 females.  It is inherited from the mother, who inherited it from either her mother or father, etc.  It can pass silently through generations before displaying itself in an individual.  It is the most common inherited form of cognitive impairment.   It's almost as common as Muscular Distrophy and Cystic Fibrosis.

The mutation on the X chromosome causes the individual to be unable to produce a protein necessary for normal brain and nervous system development.   This causes the sufferer to experience some or all of the following:


--developmental delays
--motor skill delays
--language delays
--learning and behavior problems
--anxiety
--ADHD
--OCD
--Autism and autistic like behaviors
--cognitive and mental impairment



To find out more about just how AJ and Zack are affected so far, see their webpage.

I have read a few books and articles about Fragile X since receiving the diagnosis back in April of 2006, trying to educate myself and get an idea of what they boys will be like as they grow up, but the truth is it's impossible to predict just what might be in their future.  Just like with any kid -- no one knows what they are going to turn out like, all you can do is your best, and then hope and pray.  I have read about kids with Fragile X who are mildly affected, with maybe subtle learning disabilities and a normal IQ.  Then there are those who cannot speak at all, barely communicating, having frequent tantrums and dealing with extreme anxiety, who receive special education, but who cannot mainstream with their peers and who will never live on their own and be independent.  Most people end up somewhere in between.

I read something that described what it must be like for some of the most extreme cases:

"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.


Dealing with the unknown has been hard.  We constantly hunt for clues that the boys might end up on the mild end of the spectrum.  They are responding very well to all their therapy.  I really liked the fact that they walked well before they were two years old.  In so many of the stories I read, children don't walk until they are 2 or even older.  They are beginning to talk a little bit, and the nonverbal communication has increased as well.  All the little steps they take now, I project as a good sign for the future.  That may or may not be the correct way to look at it, but it's working for me right now.

Is it hard to see them compared to other children the same age who are developing at a normal rate?  Sometimes.  Sometimes I see them next to other toddlers and they seem so similar, I just can't imagine they aren't going to grow up to be completely fine.  Other times, all I can see is what they can't do.  What does bother me is seeing mentally handicapped children and adults.  It's hard for me not to be afraid that they will end up that way, in 10 or 20 years, when it's right in front of me.

AJ and Zack were diagnosed very early in their lives; they are receiving the best of therapy, and are growing into joyful, sweet, giggly little boys.  Their development is progressing all the time.  They will be watched closely and will get help every step along the way.  They do have great potential.  We have reason to hope their futures will be bright.













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:
 
www.fragileX.org, the National Fragile X Foundation
www.FRAXA.org, Fraxa Research Foundation
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 .


Some good books I've found on Fragile X:

X Stories:  The Personal Side of Fragile X; by Charles W. Luckmann and Paul S. Piper

My Brother Has Fragile X by Charles Steiger

The Oak Leaves by Maureen Lang


Links to Websites with more information about FXS:

The National Fragile X Foundationhttp://nfxf.org/

Conquer Fragile X Foundationhttp://www.conquerfragilex.org/



This is another site of a family with identical twins with FX:
http://fragilex.ca/index.html

Another personal story:
http://mysite.verizon.net/vze22tf8/fragilex.html

Stories in the News About Fragile X:

http://edinburghnews.scotsman.com/features.cfm?id=596332007

A Case Study:

http://www.fpg.unc.edu/~FX/Pages/cases.htm




Heartwrenching YouTube video from FRAXA, with interviews from parents and discussion about the latest research:

http://www.youtube.com/watch?v=-6-J_YcVRi4
Fragile       Syndrome
A meeting was held quite far from earth
"It's time again for another birth"
Said the angels to the Lord above
"This special child will need much love."

His progress may seem very slow
Accomplishments he may not show
And he'll require extra care
From the folks he meets way down there

He may not run or laugh or play
His thoughts might seem far away
In many ways he won't adapt
And he'll be known as handicapped

So let's be careful where he's sent
We want his life to be content
Please Lord, find the parent who
Will do a special job for you

They will not realize right away
The leading role they're asked to play
But with a child sent from up above
Comes stronger Faith and richer Love

And soon they'll know the privilege given
In caring for this gift from heaven
Their precious charge so meek and mild
Is Heaven's Very Special Child
Heaven's Special Child
Copyright © 1981 by Edna Massimilla
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