FOCUS: NEWBORN SCREENING
Three years after Hunter Kelly's death, testing holds hope for newborns
Hunter’s Hope champions universal screenings for 54 treatable diseases
The video clip is haunting to watch — more than a dozen years later. It’s one minute and 45 seconds long, a video that shows Jimmy Schmitt, then about 6, an adorable, slightly precocious and very determined kid playing “Over the Rainbow” on the piano.
The video was made a year or two before Jimmy developed the symptoms for childhood ALD (adrenoleukodystrophy), a disease similar to the one that took Hunter J. Kelly’s life three years ago. ( You can watch the video here.)
Jimmy Schmitt, now 19, of Amherst, hasn’t talked or walked — or played the piano — for almost 10 years, and he never developed symptoms until age 8.
It’s all because he wasn’t screened at birth for the disease that has kept him from a normal life.
Jimmy Schmitt has become a poster person for “universal newborn screening,” which has moved into the public consciousness with the help of Hunter’s Hope Foundation. And Jimmy’s family hopes that the medical research funded by the foundation still could help Jimmy in the future.
Three years after Hunter lost his life to Krabbe disease, the foundation bearing his name is thriving — more vibrant, better funded and posting more victories in its campaign for universal newborn screening and its battle against leukodystrophies like the ones that struck Hunter and Jimmy. Hunter Kelly has died. His story, and the issues he raised, live on.
Team Hunter — led by his parents, Jim and Jill Kelly, and grandmother Jacque Waggoner, chief executive of Hunter’s Hope — could have been forgiven for losing interest in the cause after the initial grief and mourning period following Hunter’s death on Aug. 5, 2005.
But they remain passionately committed to the cause.
“There’s not a day that goes by that we don’t see or hear about a family that is affected in the same way our family was affected, that has a child that is dying,” Waggoner said in her office in Orchard Park. “We know what that’s like. We want to do everything we can so that other families won’t have to experience the suffering and death of a child.”
You can see Hunter’s Hope’s ongoing success in its growing public exposure, reflected by a recent WGR 550 radiothon that raised $124,000 and Saturday morning’s “Every Step” walk for universal newborn screening in Beaver Island State Park.
You can see it in the $550,000 federal grant given to the Hunter James Kelly Research Institute for studies into newborn testing and treatment for Krabbe’s.
Or in the three Hunter’s Hope apartments in Durham, N.C., for families whose kids are being treated for leukodystrophy at Duke University.
Jim Kelly’s influence
And you can see it in a single snapshot, from June 10, when retired Buffalo Bills quarterback Jim Kelly, by all accounts, captivated the Pennsylvania Legislature with a lesson about newborn screening.
Kelly, the Hall of Fame quarterback who is still a hero in his native Pennsylvania, told lawmakers that Pennsylvania is one of only seven states screening for fewer than 29 treatable genetic conditions.
“They gave him center stage,” Waggoner said. “Once he started talking about why he was there, they started listening to what he said, instead of just who he was.”
A month later, Pennsylvania Gov. Edward G. Rendell signed the Newborn Child Testing Act, which will require newborn screening for the 29 core treatable conditions.
People involved with Hunter’s Hope are so impressed that Jim Kelly and his family remain so passionate about the cause.
“Once Hunter was gone, I could perfectly understand if Jim backed away from this, because he fought a fight for his son, and now his son was gone,” said Mike Schmitt, Jimmy’s father. “But Jim and Jill and Jacque re-energized themselves and the entire organization.”
Dr. Patricia K. Duffner, clinical director of the Hunter James Kelly Research Institute, marvels at the way Hunter’s Hope has changed its focus since its early years.
“Initially, their focus was entirely on Krabbe’s,” she said. “Since they have come into contact with so many other families, like the Schmitts, they realized that there are many diseases that, if kids had been diagnosed at birth, they could have led normal lives.”
Jimmy’s story
It’s sad to realize what a newborn screening test — a simple pin prick to get a drop of blood — could have meant for Hunter Kelly or Jimmy Schmitt.
“This is a lousy way to watch your child live,” said Sheila Schmitt, Jimmy’s mother. “He smiles, he laughs, yes, but for 10 years he’s been trapped in his body. It’s total heartache. For 10 years, I’ve had a knot in my stomach.”
Jimmy suffers from ALD, a rare genetic disorder that destroys the myelin, or white-matter, sheath surrounding nerve cells in the brain, thus slowly shutting down a person’s nervous system. It’s the same disease publicized in the movie “Lorenzo’s Oil.” Had he been diagnosed at birth, Jimmy could have gone on a low-fat diet and had the treatment made from two types of oil that was formulated by Lorenzo’s parents, Augusto and Michaela Odone.
Jimmy watches Bills and Sabres games with his family and feeds off their excitement. He smiles and sees and hears and swallows. But he doesn’t walk or talk, and he’s been hospitalized more than 40 times.
“He’s with us,” his father said. “We’re thankful he’s here, but he doesn’t have much of a life. There isn’t much he can do by himself.”
The newborn screening campaign has become national, seeking to mandate tests in every state for all 54 treatable diseases that the federal government recommends for testing. These are life-threatening or potentially debilitating diseases that include cystic fibrosis, sickle- cell anemia and HIV.
Testing in New York
New York now tests for 44 of the 54, plus Krabbe’s, the only state to test for the disease that took Hunter Kelly’s life.
Of the 550,000 babies tested so far in New York for Krabbe’s, Duffner said, 25 have tested positive. Two of those contracted the disease as infants. Both were given bone-marrow transplants from cord blood; one is thriving while the other has died. The Hunter James Kelly Research Institute will study such clinical data to better understand Krabbe’s and other leukodystrophies. The institute also is looking for a director of scientific research into such topics as myelin repair.
So Jimmy Schmitt’s case reflects more than the consequences of not being screened at birth for his disease.
It also represents hope for the research into the leukodystrophies that disabled both him and Hunter Kelly.
“We’re hopeful that with the research into myelin repair at the Hunter Kelly Research Institute, maybe he can get back some of the functions he lost,” his father said.
The Kellys and Waggoner are spiritual people, expressing no dismay or bitterness over the fact that Hunter had to go through so much suffering to help other people.
“We believe God gave us Hunter’s story, Hunter’s life, for a purpose,” Waggoner said. “It’s clear to us that we have to share his story. . . . We have to make a difference. We have to help save the lives of these children.”
The family vows never to forget the pain and suffering, or the joys, of Hunter’s life.
And they’re convinced they know what he’s doing now.
“He’s cheering us on,” his grandmother said, “along with the other kids that he’s with who have died needlessly.”
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