Lawmakers Unite Behind Screening For Rare Disease
The parents of a Branford man suffering from a debilitating disease asked lawmakers Wednesday to require screening of the illness in newborns in hopes of preventing others from experiencing the challenges their son has faced.
Brian Kelley, now 24, was diagnosed with Adrenoleukodystrophy, an adrenal and neurological disorder, when he was six years old. Within the next six months, Brian lost the ability to speak, eat, and move around on his own. He also lost most of his vision.
Brian’s parents, Mr. and Mrs. John and Jean Kelley, testified before the Public Health Committee in support of legislation introduced by Sen. Len Fasano, R-North Haven, which would require that disease, referred to as ALD, be included in newborn screening.
Around one in every 17,000 people are born with ALD. Though women can pass the disease on to their children, the symptoms only manifest in men.
Mr. Kelley, Brian’s father, told the committee that studies have shown boys can lead typical lives with the disease if it’s detected at birth and treated throughout childhood.
“If you pick it up at birth and you follow the boys and treat them with a special diet . . . over 70 percent remain asymptomatic,” he said.
Mrs. Kelley said if screenings had been available when Brian was a newborn, his life would have turned out much different. The Kelley family founded a group called Brian’s Hope to encourage screening of ALD and raise awareness.
“We hope that he will not live in vain with the challenges he has faced and this can be his legacy to pass on, that other boys will not have to suffer the effects of the disease,” she said. “We’re just hoping to make a positive impact on little boys going forward.”
Fasano, who was one of John Kelley’s classmates at Yale University, spoke at a press conference with the family and supportive lawmakers from both sides of the aisle. He said the screening test for ALD is inexpensive. Testing costs about $1.25 per infant, with additional costs for the equipment and personnel needed to assess the results, Fasano said.
“But what it saves in dollars going forward in either municipal funds or state funds or federal funds is incredible because if you can reduce the amount of care over the lifetime, you’ve obviously recaptured those costs,” he said.
Amber Salzman, a doctor who runs the Stop ALD Foundation, said her son was diagnosed early and is now a healthy 13-year-old boy. However, she said the reason her son was caught at the age of one was because her nephew died of the same illness. That signaled to doctors that the disease likely was present in other members of the family. She said infant screening would have prevented her nephew’s death.
“There’s no reason a child has to die so that others can live,” she said.
Though other states currently are considering similar legislation, none currently require screening for ALD. The proposal looks likely to pass in Connecticut. The Public Health Committee has drafted Fasano’s proposal into a committee bill, SB-465.
Rep. Themis Klarides, R-Derby, said it isn’t often lawmakers can agree on a proposal that will clearly help constituents at a relatively low cost.
“It’s a rare occasion that we find something that is so black and white. Test these kids when they are born and they will live wonderful lives,” she said.
Tags: Adrenoleukodystrophy, Branford, Brian Kelley, Brian's Hope, Len Fasano, public health committee, Hugh McQuaid, dh
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