Correct Diagnosis Helps Two Children Walk Again

Oct. 11, 2002 -- As soon as he tried to walk, Ellen and Mark Colegrove knew there was something wrong with their son Harrison.

"He didn't have a normal gait," Ellen Colegrove said. At age 4, her son was limping along.

His older sister, Taylor, was fine — but Harrison already had a little sister, Gracie, just two years younger. She, too, seemed perfectly normal at first — until she began to try to walk.

Doctor after doctor saw the Colegroves, but none had a name for the disease that day by day was robbing their children of their mobility, confining them to wheelchairs and taking away their bodies, while their minds struggled with the loss.

"To discover that two out of our three children has a real problem here — it was devastating — it really was," Mark Colegrove said.

After five years of searching, the family would discover the sort of medical miracle you only find in movies. But first there would be many heart-wrenching days.

Childhoods Slipping Away

On one home video, Gracie is lying in bed, and her dad is trying to coax her to move her hands.

"Can you put your hands over your had," he asked.

"I can't," Gracie said.

The tiny details of their childhoods slipped away. The wrapping on the children's Christmas presents became too hard to maneuver. Playing with their toys was difficult as well. During therapeutic riding classes, it took three people to keep the children up on the horse.

"It just got harder and harder until I couldn't crawl, I couldn't move, I had to scoot around," Harrison said, grimacing. "And then you know I'd get rashes from the carpet. It was real painful."

A Tiny Tremor Was Clue

It was five years of test after test, until the family visited New Hampshire's Dartmouth Hitchcock Medical Center, and met Dr. James Filiano and his team.

"When I examined the children, there were two features that stuck out," Filiano recalled. "One was the very tiny, shimmering tremor, and the second was the abnormal tongue movements, particularly in Gracie."

Filiano believed the children had something called dopa-responsive dystonia — a rare disease that kept their brains from producing a chemical called dopamine.

"Patients with dopa-responsive dystonia will appear to have Parkinsonism or cerebral palsy, or something like that or sometimes other movements," Filiano said. "And they're quite disabled even though their brain is fine."

The good news was that there was a possibility that they could walk again.

"The notion of them walking again — the thought of it — it was so far removed from what I thought was even possible that I didn't even — I just really didn't entertain it," Mark Colegrove said.

Boy in Wheelchair Walks

No complicated surgeries were needed. The children needed just a few of the right pills to restore the body's dopamine. In many cases, medication can restore full physical functionality to people suffering from dopa-responsive dystonia.

Harrison was treated first — and within a few weeks, it seemed like a miracle. A boy in his wheelchair got up and walked, though he did so on limbs so fragile that bearing his weight actually broke his foot.

"I could actually do stuff that I had never done before — it was amazing, it was crazy," Harrison recalled.

"Then in the next few months, I took a few steps," he said, eyes tearing. "It was just so cool. I remember that, I remember."

Legs that could not walk now can kick — and jump. Harrison, now 11, is a purple belt in karate.

Gracie is taking gymnastic classes.

"I can do cartwheels and roundoffs and handstands and back walkovers," Gracie said.

"It's an interesting trip back to normalcy because every so often we're like, hey — we're a normal family!" Ellen Colegrove said. "Sometimes I don't even notice, but you don't realize how far we drifted away."

The two kids who used to need three people to help them in their riding classes now trot off on their own.

Harrison, who is wise beyond his 11 years, has advice for others like him.

"I'd like to say there is hope out there for everyone — everyone — even the sickest person in the world," he said. "There's a little bit of hope"

For more on dopa-responsive dystonia, go to www.drdcentral.com