Young West Deer man faces one in a million disorder
The headlight of a dirt bike appears in the distance while 21-year-old Jake Sproul roars into the driveway of his West Deer home.
Jake likes to go “just fast” on the bike he fondly calls his motorcycle.
Biking in the backyard, Jake looks like any other 20-something who likes to ride roller coasters, watch YouTube and tear up the back yard.
But when he was 5, Jake was diagnosed with a disorder called alternating hemiplegia of childhood, or AHC. The disorder causes seizures, painful muscle spasms, temporary paralysis and developmental delays.
Sitting in his parents' kitchen, Jake's right arm and leg start to curl into a spasm when he gets excited. Eventually, he has to lie down to let the muscle contraction pass.
Statistically, there are about 7,000 people worldwide with AHC, but there are only 750 confirmed cases, according to Jeff Wuchich, president of the Alternating Hemiplegia of Childhood Foundation.
And that lack of diagnosis is a major stumbling block for finding a cure, he said.
“We haven't yet found all the people suffering from this disorder,” Wuchich said.
Jake, like many children eventually diagnosed with AHC, was initially misdiagnosed with Todd's Paralysis until he was 5.
For children and adults with AHC, the outlook of a once-obscure and undiagnosed disease is getting brighter.
With the help of a Pepsi Refresh Grant of $250,000, the AHC Foundation has teamed with the University of Utah and Duke University. The work eventually led to the discovery of a gene mutation that causes some, but not all, of the cases of AHC.
Jake's parents, Becky and Joe Sproul, said their first reaction when Jake was diagnosed at the age of 5 was relief. When he started developing symptoms at 14 months, they had been spending most of their time at Children's Hospital. He was misdiagnosed with epilepsy and was on medications that weren't easing any of his symptoms.
Eventually, a connection was made to AHC. The Sprouls took Jake to a specialist in Michigan, who confirmed the diagnosis and was able to get them the medication the family would need to help control his symptoms.
“No one at Pitt had ever seen it,” Becky Sproul said. “It was frustrating. It was a rough road until we knew.”
The medication Jake uses isn't approved by the Federal Drug Administration, but the Sprouls can legally obtain it from outside the United States.
They're hoping that as the research moves forward, more effective drugs will be available to manage Jake's condition.
For now, they rely on a support network of parents on the AHC Foundation message boards, trading tips and tricks for controlling symptoms.
After recovering from his episode, Jake sits in the living room with his dad discussing the National Hockey League lockout. He is a fan of all Pittsburgh sports teams.
Although Jake could have an episode of paralysis or stiffness while riding the dirt bike, he can use a kill switch on the motor if he feels one starting.
Despite the danger, the Sprouls encourage Jake to continue riding, to do what he loves.
“That's one of the balances,” Becky Sproul said. “He enjoys being active. I just want him to be happy.”
When his twin brother, Luke, who does not have AHC, was learning to ride a bike, Jake insisted he would, too. Many children with AHC have trouble even walking. It took two years and lots of training wheels, but Jake succeeded.
“That was one of the proudest moments,” Becky Sproul said.
Jake works at North Co., getting paid to sort and package items through a Southwestern Pennsylvania Family Services program.
“I like work,” Jake said. He is very social with a great sense of humor, his parents say. He laughs loudly at his dad's jokes about Philadelphia sports teams.
Becky and Joe know that a cure for AHC could be a long way off.
“The funding is still light,” Joe said. “If it was MS (multiple sclerosis), you would have billions.”
Dr. Kenneth Silver, associate professor of pediatrics and neurology at the University of Chicago, who treats patients with AHC, said with the gene mutation pinpointed, research is just waiting on funding to get started. First, researchers must start with animal trials to construct a drug that targets the mutation, and then begin human trials.
The foundation, an international basis of support for parents, has started a One in a Million campaign to raise $1 million to research a cure. About one in 1 million children is born with AHC.
But even without the cure, Becky Sproul wants parents of newly diagnosed children to know there is hope.
“Things change. They do get better,” she said.
Kate Wilcox is a freelance writer for Trib Total Media.