Read if you have a child with ASD, an older family member with neurological problems, or you have gone through early menopause

[Guest guest]

This was written by a woman from Michigan who has children affected by Fragile X Syndrome. Please read if you have a child with ASD, an older family member with neurological problems, or you have gone through early menopause.

The National Fragile X Foundation just launched a new website specifically for Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) at fxtas.org.

FXTAS is a “late onset†neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe. FXTAS affects the neurological system and progresses at varying rates in different individuals over many years. All individuals with FXTAS are carriers of what is called a “premutation†of the “fragile X†(FMR1) gene. In its “full mutation†form this gene causes fragile X syndrome (FXS), a different, but genetically related disorder that appears at birth but is often undiagnosed or misdiagnosed. Female carriers can also be affected by fragile X-associated premature ovarian insufficiency (FXPOI); they may go through early menopause, the third of the Fragile X Disorders identified by scientists since the discovery of fragile X gene in 1991.

Why am I sending this to you?

If you have an individual diagnosed with an ASD or another developmental disability which overlaps with the symptoms of fragile X syndrome AND an older family member has some of the FXTAS symptoms, you may want test for fragile X in your family, if only to rule it out. 30% of children with Fragile X have a dual diagnosis of autism.

If you have a child with an ASD or another developmental disability which overlaps with the symptoms of fragile X syndrome AND you or a sister of yours has gone through early menopause, you may want to test for fragile X in your family, if only to rule it out. I believe it’s important that it is ruled in or out if only to ensure family members have the right information.

I have personal contact with a family, in which a man’s sister knew she was a fragile X carrier, knew that her son had fragile X but did not share the information with the family. The man developed a tremor which was misdiagnosed as Parkinson’s. He underwent the brain surgery used for treatment of Parkinson’s which did not improve his condition, only made it worse. If he had known of the Fragile X gene in his family, he would've not opted for such a serious treatment that would never have helped him.

With much regret I also have first-hand experience of working with individuals who while pregnant learn that another member of their family carriers the expanded Fragile X gene. Or they work with a well-informed OB/GYN who when learning about a family member with a developmental delay recommend fragile X screening (which is recommended for all individuals with developmental delay, autism or mental impairment of unknown origin, as noted in the American College of Medical Genetics Practice Guidelines which were written in 1994.)

It’s devastating especially when I find the individual looking for answers on the web and you can sense the fear in their message. I ask you, who is responsible for their train wreck?

· Although our diagnosis was way back in 1997, I still remember the initial impact, my life felt like a train wreck, my life and dreams for my child derailed. With time I learned that there was no reason for blame, in my family we had no history of developmental delays, autism or mental retardation of an unknown origin. And even if there was, there was nothing I could have done to prevent it without a diagnosis; it was like being in an accident in which I was hit from behind, I didn’t see it coming, I couldn’t stop it.

What did matter is what I’ve done afterward. My family has been tested, we can trace the gene back to my Grandfather and it is very likely his mother was a carrier, it existed in our family for four generations, silently lurking until my son was born and diagnosed. Since then I have had my daughters tested. They like there brother both have fragile X. And, it’s not just my daughters who have been tested; both of my sisters, my mother and my aunt (who has no children) have been tested as well. My older sister actually had a full-mutation but she did not pass the X chromosome with Fragile X to her children (they were both tested) and my younger sister didn’t get my mother’s X chromosome with

Fragile X. Unlike their brother my daughters are very fortunate because they are female and their other X chromosome is producing more than enough of the protein. One daughter is in some ways a typical fragile X girl who is slightly affected, very shy, struggles with Math, but she’s still an honor roll student. The other is not so typical when it comes to girls and fragile X, an all A student, very outgoing, very athletic and animated at times, and I was just informed that she will be receiving the Presidential Award for Academics this year.

Because we have a diagnosis I have the opportunity to educate them about fragile X, to prepare them for the future, to avoid a train wreck for them. They may have choices to make but how I prepare them is to let them know that it’s their choice, not mine or anyone else’s, whatever they may decide I will always be there to support them. I know what they may go through, because I lived through it when we had our baby number four, our Whoops, and I knew I was a carrier. I won’t have a heavy heart or be filled with guilt because I know they won’t be that person on some web based forum filled with anger because they were never told and/or filled with fear because they were never educated about fragile X. I had three children before we had a diagnosis, four children in all (only one child did not receive my expanded FX gene) and IMHO I truly believe the

worst choice my daughters may make would be not to have any children. But no matter what, it is their choice – not mine - and I will support their choice.

If you’ve never tested your child for fragile X, I do recommend that you consider testing, if only to rule it out. If you rule it in, and have test results prior to July 21, you’ll have a wonderful opportunity to attend the

International Fragile X Conference which will be held in Dearborn. Internationally known Fragile X experts will be in our backyard! Iit’s very important they run the correct test, Cytogenetic testing which may also be known as chromosome analysis or the newer version chromosome microarray analysis cannot be used to diagnose fragile X far too often these tests produce a false negative result for Fragile X. If you believe your child was tested but you weren’t given CGG repeat numbers it’s highly probable that they ran the wrong test.

Sorry for being so long winded, the average doctor doesn’t have a good understanding of fragile X and how it can impact an entire family across generations, if you’d like to learn a little more I recommend a Time Magazine Article, available on the web at:

http://www.time.com/time/magazine/article/0,9171,1818268,00.html

I can only hope a few of you consider doing the test if only to rule fragile X out, if by chance you rule it in, talk to me, I’m here to help.

P.S. And, yes, I do have some of the symptoms of FXTAS (numbness in the hands and muscle pain are currently the most prominent), they began in 2005, progressing slowly. I’m hoping it continues slowly yet I’m thankful that I’ve had the opportunity to participate in a few research studies, at the onset of possible problems, the more we learn, the more we’ll know and the better we’ll be able to treat one day.

FXTAS Symptoms in Males

Both the number and severity of FXTAS symptoms vary among individuals. Some will have multiple symptoms that progress rapidly, others few symptoms that remain mild over many years. The most common symptoms in males are:

“Intention†or “action†tremor (trembling hands that occur when one reaches for something or is otherwise using one’s hands. The tremor is not as noticeable at rest).

Balance problems, called “ataxia,†which might result in frequent falls or the need for the person to hold on to a railing or cane.

“Parkinsonism,†which can include general shaking of body parts, muscle rigidity, a shuffling gait and slowed speech.

Cognitive/intellectual decline, including short-term memory loss, loss of math or spelling skills, and other intellectual functions.

Numbness or burning of the hands and feet (neuropathy).

Low blood pressure (orthostatic hypotension).

Personality or mood changes, which might include increased irritability, outbursts of anger, and inappropriate behavior not consistent with the person’s previous personality.

Difficulty with organizing, planning, anticipating, and carrying out of everyday life tasks and activities (“executive function skillsâ€).

Difficulty learning new tasks.

In advanced cases, loss of bowel or bladder control, impotence (autonomic dysfunction).

Specific findings on a brain MRI called “increased signal intensity in the middle cerebellar peduncles (MCP sign). These findings are evident to neuroradiologists (radiologists with additional expertise in neurological condtions).

Click here to see video of patient attempt at drawing a spiral; left and right hands.

Click here to see video showing balance and gait problems

Symptoms in Females

Females can experience the same neurological symptoms as males, but almost always with less severity. Most affected women have some degree of tremor and/or ataxia. While the psychiatric and mood disorders are also less frequent in females, they are at higher risk for anxiety and depression in general. Additional symptoms affecting females include:

Fibromyalgia and/or generalized muscle pain.

Thyroid disorders, usually hypothyroidism.

Seizure disorders.

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