Fragile X

There was an article in one of the last few issues of Parents magazine on Fragile X syndrome. As I recall, there were a number of resources given at the end of the article.

Beth

Thanks for the tip about Parents Magazine. I have some basic information about it but I want to hear some personal stories from parents of girls with Fragile X. From what I’ve read so far, it seems that some girls with Fragile X Syndrome never get diagnosed. I would like to hear from anyone that might have advice for me as a parent of an adolescent girl who seems to have a lot of the symptoms and characteristics of Fragile X Syndrome but nobody has put all the pieces together to come up with this possible diagnosis.

I don’t know a lot but recall that there is a blood test so you could know for sure. I also recall that girls were less affected than boys—they tended to be LD. Of course, there are many other causes of LD so the blood test would let you know for sure.

Beth

Jamie, There’s a fairly recent book out, written especially for parents, about Fragile X - I don’t recall its name but I leafed through it at a Barnes & Noble store last fall. I remember it as being very descriptive and loaded with pictures too so you can get a good idea about how these kids look.

Also, Fragile X is one of the syndromes described at length in Linguisystems book, “The Source For Syndromes”. There IS a DNA blood test for Fragile X. All individuals with Fragile X have an “underlying gene defect, an abnormality in the SMRI (fragile X mental retardation) gene”, according to this book.

The characteristics listed in this book are:

Developmental delays./Severe cognitive impairment
Distinctive facial/physical characteristics
Hypotonicity and joint dysfunction
Vision difficulties
Associated behaviors (hyperactivity, anxiety, etc.)

It IS primarily males that have this but there are females and according to the book, they’re less severely affected by it.

The facial features really are distinct: a long, narrow face with a strong jaw, very long ears w/abnormal auricles, strong forehead, droopy eyelids. Many people have a high arched palate. The book does state that the physical features in females is less evident.

Girls tend to have a milder cognitive impairment as well. Some test within the normal range even with the physical features. Just about everyone has a delayed motor and speech-language development.

The speech/language area is what needs the most attention. Sensory integration issues are also quite evident.

You might want to get hold of these two books for yourself.

Thank you for the info. I’ll look for them today. My daughter graduated from high school a year ago. (She spent only those last two years in special education. She was completely mainstreamed until then.)

At three is when we knew something was wrong. Her speech and language was delayed. She started therapy at three and it was continued (privately) until she was in first grade. Then the school system picked up and “helped” her until third grade.

At four years old, she had bowel problems (didn’t seem to know when she had to go) and she’d have accidents. When she was young, she also didn’t seem to know when her bladder was full until she was ready to burst.

By five, I knew she was going to have trouble in school so just before she entered kindergarten, I had her tested by a private psychologist. He found her to have significant learning disabilities and predicted she would be in LD classes by second grade. He didn’t know her resilience. She struggled to follow directions and with keeping up socially. In first grade, her teacher called me for a conference. When I got there, the teacher showed me pencils she had found in my daughter’s desk that had been chewed down to the graphite. Math was causing her significant anxiety.

Because she has average intelligence and got average grades, the school system repeatedly failed to “hear” my pleas for some special help. I had to get her a private math tutor who could only do so much with her. In fourth grade, she had occupational therapy for sensory integration problems (again identified and paid for by us). It helped somewhat but it wasn’t continued long enough.

Six grade came. Middle school. Locker combinations, 7 teachers, kids from different communities she didn’t know. This is where her shyness and social immaturity did her in. Depression came for her in 9th grade and since then there have been special schools, psychiatric hospital stays, and lots of testing.

I have thought all along with each new “symptom” or physical problem, that the “professionals” were not putting all the pieces together correctly. They all agreed there were learning disabilities and clinical depression. Beyond that, they all came up with different diagnoses. Even though she has graduated from high school, she is stuck. She cannot seem to move forward with any plans for a job or school. She has significant “executive function” deficits.

If anyone out there thinks this sounds like Fragile X, please respond.

This is a very good site on fragile X.

http://www.fragilex.org/home.htm

There was also an article in Redbook recently about fragile X.
Fragile X can range in sevirity from mild to extreme. Many mild cases are missed and misdiagnoised.

Helen