September 5, 2008

New clinic meets challenging needs of Fragile X patients

Featured Image

Brody Griffin, here at home with his service dog, Milo, is among those being helped by Vanderbilt’s new Fragile X clinic, the only one of its kind in Nashville. (photo by Neil Brake)

New clinic meets challenging needs of Fragile X patients

Lisa Craft, M.D.

Lisa Craft, M.D.

Lisa Craft, M.D., may be one of the few doctors at the Monroe Carell Jr. Children's Hospital at Vanderbilt who keeps her examination tools in a toy box.

The stethoscope and otoscope share the box with a duck hand puppet and assorted flashing, noisy toys. Craft's patients are children with a genetic condition called Fragile X syndrome, and she knows she stands a better chance of getting through an exam if they are well distracted.

“Fragile X is the most common known inherited cause of autism and developmental delays,” Craft said.

The disorder is often accompanied by behavior and sensory issues that make sitting still virtually impossible. But Craft says the exam is crucial.

“We are always looking for heart murmurs and scoliosis as well as tracking the family's needs for behavior management tools and support.”

Craft is medical director for Vanderbilt's new Fragile X clinic, the only one of its kind in Nashville. The clinic meets once a month in the Division of Developmental Medicine and Cognition, which is one of 14 clinics linked with National Fragile X Foundation's clinical and research consortium.

Wendy and Bubba Griffin were the first family to have their son seen at the clinic. Brody, 5, was tested for medical conditions that can be seen in children with Fragile X syndrome, like hearing loss, sleep problems and seizures.

“It offered reassurance that what we thought was going on was actually the case,” said Wendy Griffin. “When we adopted him he was nearly 2, but had the appearance and behavior of a six month old. We were actually relieved when we got the Fragile X diagnosis because we worried he had been starved and neglected.”

Like many children with Fragile X, Brody cannot communicate with words, so the clinic provides communication tools. He now uses sign language well and has a visual schedule with pictures that cue him to daily routines, reducing his level of frustration.

“What we learned is that we cannot unscramble an egg, but we can learn to work with what we have,” Griffin said.

Craft hopes that by seeing the children with the most severe manifestations of Fragile X, she can accomplish two goals — helping children reach their fullest potential, and educating families about how deeply the genetic disorder can reach into the extended family.

“We used to think Fragile X was rare, carried by women and affecting their sons. But in the mid-1990s when DNA testing became available, we had to rewrite the book,” Craft said. “Now we know the gene affects boys and girls, and that there is a wide spectrum of severity. We also know it can affect adults and that both men and women can be carriers and pass the gene on to their children.”

Research now shows men and women who had normal cognitive development as children can develop Fragile X-linked tremors and balance problems in older age. Women can experience early menopause and fertility problems as a result of a Fragile X-linked disorder called primary ovarian insufficiency (POI). Girls can also have the full syndrome, but can go undiagnosed because their normal copy of the X chromosome can cover for their fragile X.

“The goal is to have a better understanding, because most people want to know 'why.'” Craft said. “Giving these families regular assistance and more information provides a road map to living with Fragile X.”