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SusanFX
06-30-2006, 02:16 PM
I am a carrier of FX, and my son has Fragile X Syndrome. He was FIRST diagnosed with Autism. Thankfully we did the FX blood test! We found out that I am a carrier, my dad was a carrier, my sister is a carrier, as are my aunt and 2 of her 3 children. Imagine, we never knew a thing, 7 carrier adults who might have autistic children or severely disabled mentally all in one family. Luckily, no other kids were full mutations of FX. The 4 of 5 kids are carriers though! They have a 50% chance of having a full mutation Fragile X Syndrome child, like I did, like their parents did.

There is SO MUCH misinformation out there in the Autism support groups presented by uninformed people, please learn about FX. It DOES CAUSE AUTISM. It IS genetic, and NO the kids DO NOT look strange. My son looks perfect, like every other kindergartener! IF your Autistic child had not been CORRECTLY tested for FX, you MUST!!! Would you want your family members to have disabled children too because you neglected to test?? Many families are destroyed by not testing or not telling.

And when the CURE for Fragile X is found, and they are one gene away, if you have not been tested, then your child will not be cured. mine WILL BE. It's just a blood test, just do it! Don't take no for an answer from an uninformed doctor!!!!!! 1 in 135-200 women DO carry this gene!!!!!!!


Knowledge is power!! Learn about it!!

from the www.fragilex.org website:

Autism and Fragile X Syndrome

FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation. (of the only 30% of Autism cases tested)

FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have autism.

FACT: Fragile X syndrome is the most common known cause of autism.

FACT: Approximately between 135 and 200 women worldwide are carriers of the Fragile X premutation.

If your child is diagnosed with autism, or an autism spectrum disorder (ASD), please ask the doctor to rule out fragile X syndrome by ordering the DNA blood test for Fragile X. http://www.fragilex.org/html/testing.htm

To learn more about the relation between Fragile X and autism please click here: http://www.fragilex.org/html/autism.htm or call the National Fragile X Foundation at 1-800-688-8765.

From Dr. Randi Hagerman's statement to the United States House of Representatives Subcommittee on Health and Environment:

"...Fragile X represents a portal through which we hope to view and treat a wide variety of other disorders of brain development and function. All children with autism...should be tested for Fragile X."

CarerQuie
07-04-2006, 12:48 PM
Thank you.My son tested negative for fragile X but it is definitely worth getting tested.xx

Dad
07-20-2006, 06:34 AM
My son also tested negative for FragX (as well as PKU).

I know a family with 2 Frag X sons, one also with autism and one without. The older (non-autistic) graduated from H Sch with my oldest daughter, and despite having moderate MR did get a typical diploma, rather tan a Sped Cert of Completion. This family also has twin daughters sandwhiched in between the boys; I do not know if they are carriers or have even been tested.

My understanding is that the chances of having a Frag X child are not 50% (1:2), but rather closer to 25% (1:4) because it is far more rare to have a Frag X daughter (would require getting 2 Frag X genes, one from each parent). The 50% chance would be for having a son with Frag X (assuming the mom is a carrier).

Also, while a small percentage of children with autism have Frag X (leading some to believe it is a genetic source of autism) it is also true that only a small percentage of Frag X boys have autism (I have seen estimates of about 10%). I believe that the 2 conditions are actually unrelated, and that Frag X boys are more medically frail, leading them to be more susceptible to the triggers of autism than children with an intact X gene.