Monday, March 01, 2010

Fragile X study

Click on the title link to be directed to an article regarding the research going on at Emory University. Dr. Jeannie Visootsak, who is running the clinical trial at Emory’s Fragile X Center, remarks “This is the first time we are looking at treatment. I never thought we’d be here today. It’s amazing.”
Fragile X Syndrome is not autism, but 5% of autism is caused by FXS. The numbers for autism among people with FXS range from 10-15%. according to the NIMH
The story in the AJC article was kind of sad, remniscent of a book that I read years ago.  The young man who is receiving treatment (possibly, it's a double blind study) is of the hope that the pill will "make him smarter".  Flowers for Algernon , a novel, was written in 1958 and tells the story of a man undergoing a transformation because of medical treatment...  will science fiction come to life in this case?  We won't know for years. Yet, there are many cases in the present where medical science has changed the lives of those predisposed to neurological conditions by replacing missing chemicals or by changing the environment to avoid condition specific teratogens.(Epileptic seizures due to pyridoxine deficiency, although rare, are known to occur. They are characterized by untreatable convulsions during childhood. Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.Wilson's disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous system. )  To say that we must accept all cases of autism as being a "way of being" and "untreatable" doesn't take into account these conditions.  It does, however, set up parents to open themselves up to shamans who disregard medicine in favor of "woo".

Ben was tested for Fragile X.  In fact, it was the only genetic testing we could afford.  It was negative, when we received the results at age 8. We couldn't afford the testing for Tuberous Sclerosis with an out of pocket expense of $3000, although I considered it a possibility.  The geneticists felt it wasn't necessary, that if Ben had TS, signs would eventually show up in his teens.  Many parents only become aware of their own TS when their children manifest the signs earlier, or to a greater degree.

We were not searching for needles in a haystack.   Our psychiatrist suggested that we send Ben through the USC School of Medicine Center for Disability Resources at the Midland Campus, a center which he was instrumental in founding. (Dr. "Luke" is extraordinary.)    They specialized in Developmental Disabilities, and it was there that Ben was given the label of PDD_NOS.  It also was noted that his skin contained birth-marks, both strawberry and cafe au lait, vascular malformations that can be indicative of medical problems, such as Tuberous Sclerosis and Neurofibromatosis. (TS and NF are two conditions that can cause autism in some individuals.)

I don't want to encourage people to think there may be a cure for "autism", there are probably hundreds of factors involved, and as many reasons for the autistic mind. In reality, I love Ben the way he is, and wouldn't want to change those things I love best about him, and it would make me very sad to see his quirky sense of humor leave him.  If he was cured of that..if it was my choice, I'd say "no thank you". But, he can communicate with me.  He, for the most part, is able to avoid overstimulation so it doesn't paralyse him or cause him to act out without the ability to reel himself in.  I don't have to consider institutionalization. I don't have to consider an early death because of the medications he takes or doesn't take.

I'm not about to judge any parent or child who sees hope in this study.


Anonymous said...
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Sally N said...

You may want to check what test was done for fragile X.

Did they give you CGG repeat numbers? If they did, they ran the right test. If they didn't I'd be concerned that they ran a chromosome panel that should not be used to diagnose Fragile X. It has proven to be unreliable, it was used prior to the discovery of the gene in 1991 and too many doctors still use it today - they haven't kept up with genetics.

r.b. said...

Miss Sally:

The test was done in 2002, I'm not sure I have the paperwork. But I don't recall CGG repeat numbers. It was done at the Greenwood Genetic Center in Columbia, SC. ( I'm not sure how forward they were at that time, but because of his ash leaf spots on his back, I was leaning toward Tuberous Sclerosis. So far as I can tell, at age 16, he shows no other signs (particularly adenoma sebaceum), but I'm not quite sure what I'm looking for, although I did see it on a teenager at a residential home I worked at, whose case was very clear to me.

Thank you for your interest.

Casdok said...

C was automaticaly tested for this when he was first assessed for autism, here in the UK the test is free. His was also negative.

shashank said...

Here is a link to more information about the genetics of Tuberous Sclerosis that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

Lori Bassett said...

The Greenwood Genetic Center was instrumental in the identification and early testing for the Fragile X gene. If the Fragile X test was ordered through our lab in 2002, you would have received the number of repeats. It is correct that a chromosome analysis or karyotype can miss Fragile X.
Lori Bassett, MS, CGC
Greenwood Genetic Center

r.b. said...

Good Lord, Miss Bassett! I am surprised that you found this blog. Thanks for your information. One less thing to worry about.

I am still concerned regarding the T.S., but we are with Dr. Leukowicz (psychiatrist)after 8 long years. He sent us to the Midland Campus (USC School of Medicine). They sent us to you. If there is reason for concern, I'm sure he'll help us out.

The author said...

I dare say some birth marks are just birth marks in the same way that not every headache is a migraine, not every tumour is cancer, and not every siezure is epilepsy.

I have a number of small hemangiomae dotted about, and of no significance beyond that of my more conventional and numerous moles so far as I am aware.

That does not mean to imply that testing is not worth it, just that in all probability it will rule out a more serious concern.

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