What is Fragile X, you ask?

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
~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."
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:
  • Becoming Mrs. Rogers:  Learning to Live the Fragile X Way by Cindi Rogers
  • The Fragile Face of God by Leeann Taylor
  • X Stories: The Personal Side of Fragile X; by Charles W. Luckmann and Paul S. Piper
  • My Brother Has Fragile X  by Charles Steiger (A great positive story for children!)
  • The Oak Leaves by Maureen Lang
Fragile X Resources
(This list was compiled by Sally Nantais, I just copied it.)

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

FRAXA Research Foundation

The National Fragile X Foundation

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


Dr. Marcia Braden – when it comes to behavior Dr. Braden is an expert.

Developmental FX

First Down Towards a Cure

Fragile X - Hitting the mark

Living with Fragile X – a documentary

In layman's terms:
Time Article – Fragile X: Unraveling Autism's Secrets

Time Article – A new approach to correcting autism

Promise Seen in Drug for Retardation Syndrome

Advances in the treatment of Fragile X Syndrome

Medication Guide for Fragile X

Seaside Therapeutics

Clinical Trials

The Fragile X Research Registry
Related Posts with Thumbnails


#youmightbeanautismparentif 2012 in review 9/11 memories ABA therapy Acceptance acronyms advocacy affection aggression AJ Aliza Aliza the playwright All I really need to know... Alphabitty Moments American Girl Ann Coulter antibullying anxiety anxiety in parents of children with special needs apple orchard apps for autism AppSmitten Arbaclofen Arbitrary Thoughts ARC autism autism brushing autism portrayed in TV shows Autism Shines awareness backyard band baseball bath toys beds behavior problems being tall Birthday Boys biting blog change blog hop blogging books bottles brushing bubbles Burnsville Fire Muster bus Cabin Fever in Minnesota candy Carly Fleischmann Carly's Voice cats cats and dogs chewys Chicago childcare for special needs children childhood Children's Museum chocolate Christmas Church circumin clinical trials Clonidine CNN Hero of 2011 coffee communication comparisons computer Conference cost of special education Courage Center Curcumin daddy dance dance competition dance moms Dental surgery dentist developmental milestones diagnosis diapers Diego Disability Day dogs Dolphin Tale Doomsday Preparation Dora Doritos drug trials DVD player early intervention earrings Easter ECSE Parent Retreat electronic gadgets electronics Everything I need to know... Evil Overlord fall falling asleep at school families family fashion fear Featured Feel Good Friday field trip fireworks first day of school Flash Gordon Food Chronicles food issues in Fragile X and autistic children forms forts Fragile Face of God Fragile X Fragile X advocate Fragile X and autism Fragile X Awareness Day Fragile X carriers Fragile X in the news Fragile X presentation Fragile X statistics Fragile X Writers friends fundraiser for Fragile X funniest Funny Gabrielle Giffords Galveston games getting carsick Girls' Night Out Giving Spirit glasses global warming going home Good Morning Great Quotes guest blogs guest post haircuts Halloween hearing test Heaven is for Real hippotherapy holidays Holland Holly home life homework hotel hugging human behavior hyperactivity IEP Meeting IEPs in the news inclusion inspiration integration iPad iPad apps iPad apps for autism IQ testing Jack Jablonski January First Joke journal entry kids with Fragile X and animals Kindergarten Kindle kisses language study learning to talk leaves lemonade stand Lily Little Einsteins losing teeth Mad Gab makeup mall Mall of America marcia braden McDonalds media sensationalization medications Melatonin Miami MIND Institute Minnesota Bloggers Conference minocycline Miracle League monkeys mosquito bites Mother's Day movies MVMOM Used Clothing and Equipment Sale nail trimming names naughtiness neighbors nicknames nightmares normal off topic one thing leads to another online dating Operation Beautiful oral sensory orphan drug act other bloggers Our Wedding outside overstimulation panic attacks parade parental stress Parenthood park Partners in Policymaking penicillin people with disabilities pets pharmacy fun photography Photoshop picnic Pictures pinching pink shirt Pinterest playing outside playing with toys poem politics poop potty training Presents protecting autistic children rash reading to kids research Retreat riding a bike Robin Williams Roger Ebert routine RSS feed RUSH University San Diego Sandy Hook Elementary Santa schedules school school bus school notes school pictures screaming self image self-checkouts sensory Seroquel siblings with developmental delays sick kids sippy cups sleep smile snow pictures Snowstorm social situations speaking of the unspeakable special education special education evaluation special needs kids special needs parents Special Needs Ryan Gosling Special Olympics spelling spoon feeding spring break staying positive stimming Strep STX209 Stylish Blog Award suicide summer Sunday School Sundays sunshine survival mode swimming talking talking to kindergarteners Target teacher's aides Teeth brushing Tegretol Temple Grandin Ten Commandments textbook case of Fragile X thankful thanksgiving that window/mirror thing The Autism Store The R Word the rapid passage of time The Right Things to say to parents of special needs children The Santa Experience the Shedd Aquarium The Twin Thing The Wiggles therapeutic horseback riding therapy This is Autism topless trampoline traveling with special needs children TV twins with special needs Twitter typical Fragile X characteristics typical kids typing vacation Vacation Bible School video games videos volunteering Waisman Center water play way-back-Wednesday What I've Learned What's your song? when a special needs parent dies Wiggles Wii games Winner Winner Chicken Dinner winter wonder Wonder Pets Wordful Wednesday Wordless Wednesday Words of Wisdom World Autism Awareness Day YMCA You Tube Zack Zoloft zoo animals

Fragile X Blogs