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February, 2007, Vol. 07, Issue 02

Fragile Eggs, Fragile Legs?

By Elaine Stillerman, LMT

It's called Fragile X, and I hadn't heard of it either.

We used to put our infant son in a bouncy seat that had colorful wooden beads for him to spin and play with. Luke enjoyed hitting them and watching them turn.

By the time he was 4 months old, he was still swatting them instead of trying to lean forward and reach for them. When I mentioned this to my husband or to friends, they brushed my concerns aside.

By the time he was 6 months old, Luke still was at the same level. When we went to the pediatrician for his 9-month checkup, the doctor asked typical questions about his development: "Was he sitting up unassisted?" No. "Was he turning over?" No. "Did he babble?" Hardly. "Was he trying to crawl?" No. I remember feeling the blood drain from my face when she said, "It's probably nothing, but let's have some neurological tests done to rule things out."

Thus began our odyssey to find out why Luke wasn't achieving his developmental milestones. It took us to five pediatric neurologists, two or three developmental specialists, speech, occupational and physical therapists, an MRI, an EEG and finally, DNA testing to get an accurate diagnosis: Fragile X. This heartbreaking syndrome is the most common inherited developmental disorder in the world. One in 260 women is a carrier and one in 800 men will pass the defective gene to all of his daughters. (It was my father who passed the gene on to me.) And then, the waiting game begins, because no one can ever really know which generation will carry the full mutation and all that it signifies.

Luke finally started to walk when he was 2 ½ years old, just about the age when we learned his diagnosis. Language and speech, however, still is something I look forward to. Toilet training an 8-year-old has its challenges, and the seizures he suffers positively age me. But, he is the sweetest, happiest and most beautiful boy ever. He also has a wicked sense of humor, something else he inherited from me.

Fragile X affects about one in 4,000 boys and one in 6,000 girls, and most carriers are unaware of their status. Fragile X causes cognitive impairment, pervasive developmental delays, attention deficit, hyperactivity, seizure disorder for one in four, anxiety disorders and autism. All of this occurs because of the failure of a single gene (FMR1) to produce an essential brain protein necessary for normal brain function.

Carriers also have symptoms. Some older men will be impaired by Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and some women are at risk for premature ovarian failure or early menopause. This certainly could impact a woman's decision to delay childbearing, since she might lose that option in her mid- to late-30s. Testing for Fragile X is a simple blood test. The DNA test can predict a woman's chance of having an affected child and can be used to diagnose carriers and affected individuals.

At present, there is no cure. Therapies and appropriate education can make inroads, but don't change the core problems. But there is hope on the horizon. Research tells us that Fragile X delays the brain's development rather than damaging it. So, it's likely that the research can eventually benefit all people who suffer from Fragile X. In addition, fixing this one gene, or its symptoms, could lead to a better understanding of more complex neurological conditions such as autism, Down syndrome and Alzheimer's disease.

When Luke gets back from school this afternoon, he will point to his DVD ("D!") and watch Elmo ("Ehmo") once again, exploring his world. I am looking toward the day that my son, too, will use his friends, his computer and his mother to explore his world.

For more information about Fragile X, visit

Click here for previous articles by Elaine Stillerman, LMT.


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