Fragile X Troubled One Family, Strengthened Another

Syndrome May Have Led to Despair for Benoits, but Some Families Find Hope.

Had it not been for the apparent double murder-suicide committed by pro wrestler Chris Benoit last weekend, many may never have heard about Fragile X syndrome.

Now reports are surfacing that the challenges Benoit and his wife faced in dealing with their young son's genetic disorder may have played a part in driving him over the edge.

Though not widely known or understood, Fragile X syndrome is actually the most common genetic form of mental retardation, and it is considered the leading known cause of autism.
And while the syndrome may have been part of what caused the tragic end of the Benoit family, for one other family living in Atlanta, the syndrome has actually pulled them closer together.

Gail Heyman's struggle with Fragile X began when she learned that her second son, Scott, would never live a normal life because of the syndrome.

"One of the challenges is letting go of a dream that each parent has: That when they have a child, that child is going to progress normally," she said. "That's a hard thing to do. You want to think that you can fix the problem."

But though she could not fix the problem, she and her family learned to cope with it.
"My husband and I both decided to learn what we could about Fragile X and use what we learned to help others," she said. Her devotion to learning more about the syndrome would lead to her becoming co-founder and president of the Fragile X Association of Georgia.

Even Carly, Scott's younger sister who is untouched by the syndrome but still a carrier, pitched in at the age of 16 by writing a book titled "My eXtra Special Brother," which is based on her relationship with Scott.

Today, Scott -- now 26 -- lives independently and holds down a job in the produce section of Publix.

Coincidentally, he is also a huge fan of pro wrestling -- and he was a fan of Chris Benoit in particular.

"He has WWE posters all over his home," Heyman said. "And he loves [Benoit]... He will be saddened by the news. But I think he will deal with it.

"On one hand it is horrible, it is such a tragedy. But if something good can come from something this bad, let's use it to help people understand Fragile X."

What Is Fragile X?

According to genetic counselor Shelley Dills of the Emory University School of Medicine, Fragile X syndrome is a genetic condition that affects 1 in 4,000 males. It is only about half as common in females.

While fathers cannot pass the syndrome on to their sons, mothers who are carriers may pass severe forms of Fragile X to both male and female children. This is because the syndrome is caused by a mutation in a specific gene on the X chromosome known as Fragile X Mental Retardation 1, or FMR1.

Genes provide blueprints for the body, giving instructions on how to build each part of a cell. In people with Fragile X, sections of a blueprint become duplicated to the point that the instructions don't make sense anymore.

The cell can no longer decipher the instructions and hides them in the interest of safety. With no instructions to follow, the final product, a protein called Fragile X Mental Retardation Protein, or FMRP, cannot be made.

Without this protein, nerve cells in the brain cannot communicate with each other, resulting in the symptoms that accompany Fragile X syndrome.

"Males typically present with developmental and language delay, autistic-like behavior, hyperactivity, and varying degrees of learning disabilities and mental retardation," Dills said. "Females will present with a milder presentation -- anxiety, depression, shyness and poor social skills."

Around 20 percent of males with Fragile X meet all the criteria for autism; the remaining may show some signs of autism, but tend to be mostly social.
Deborah Kwan, programs coordinator for the National Fragile X Foundation in San Francisco, said those with Fragile X also have difficulty processing sensory information.

"Many individuals with Fragile X are simply overwhelmed with sensory input," Kwan said, adding that an environment as seemingly routine as a shopping mall can often lead to too many distractions, causing confusion and anxiety.

"Things that we could block out -- a fan, a lawn mower down the street -- these guys can't habituate that. They can't concentrate as easily."

Despite the physical and behavioral complications, most children with Fragile X are able to live well into adulthood.

"There are minimal serious medical problems, and generally they'll have a normal lifespan," said Dills.

Screening for Fragile X involves a simple blood test, which can accurately diagnose the syndrome 99 percent of the time. Kwan said testing for the condition is reaching younger and younger aged children, allowing them to reap the full benefit of care. And in recent decades, researchers have developed treatment strategies, including special education and medication regimens, to help with behavioral problems.

Unfortunately, a cure for the syndrome is proving much more elusive.
"There is no cure for Fragile X at this time," Kwan said. "There is a lot more research to be done."

How the Heymans Adjusted

While researchers study the disorder in a lab setting, for the Heymans, confronting the disorder took a much more personal tone.

"Another challenge was learning how to feel included in our community without having to apologize for his behavior," Gail Heyman said. "We had to figure out how to fit into society without the unwanted stares, without having to explain his unwanted behavior."

Heyman said it was also difficult not to blame herself for her son's condition.
"When you're dealing with a genetic disorder, it is not something that you did," she said. "Learning to accept that was hard."

But she said despite the challenges, her son's Fragile X syndrome "is not a bad thing."
"Our kid is a great kid, and he brings us lots of joy," she said. "We've taken the negative -- it was a negative at first -- and turned it into a positive.

"It is not a reason for murder, but it is a disorder."