SOUTH JORDAN — Tyler Horton lived seven months after he was diagnosed with a genetic brain disorder.
“We were told to take him home and enjoy him,” said the then-7-year-old’s mother, Wendy Horton. “There was nothing they could do for him.”
Tyler is the oldest of four. All of them, but specifically his two brothers, needed to be tested to be sure they didn’t face the same journey that adrenoleukodystrophy handed him. The condition affects mostly boys, but girls can be carriers and pass it to their own children.
“Any parent would like to know if their child was afflicted with a disease that could be treated,” Horton, of South Jordan, said. “It’s not anything any parent wants to go through.”
Tyler died on Dec. 20 almost 18 years ago, but a simple blood test that will identify patients with the genetic mutation is now making its way into the mainstream. Parents of babies born in Utah will soon know — with help from the Newborn Screening Program — whether their child has the propensity for the debilitating and deadly condition, among 41 other treatable disorders.
“If we would have known, we might have our oldest son here still,” Horton said.
Adrenoleukodystrophy — in which the myelin or white matter of the brain disappears and leads to scrambled nerve messages and ultimate whole-body dysfunction — affects boys’ brains at a young age. They’re out of the woods if regularly scheduled brain MRIs don’t reveal problems before age 14, but patients almost always end up needing medication for the rest of their lives to deal with potential off-and-on neurological symptoms.
Thing is, treatment is only viable before the de-myelinization occurs, which is before symptoms manifest, said Dr. Josh Bonkowsky, chief of pediatric neurology at Primary Children’s Hospital.
“Once that window of time passes, the treatment no longer works,” he said.
That treatment — the only option currently available for patients — isn’t a piece of cake, either.
Bone marrow transplants are risky for even healthy individuals, Bonkowsky said, but the chance to save a child’s life is worth it.
“It’s become clear in the past six or so years that a bone marrow transplant can stop the disease and the kids who get that survive and do well,” the specialty doctor said.
He estimates the prevalence of the condition is one in 10,000 births, which means that roughly five Utah kids are born each year with adrenoleukodystrophy. His clinic, the only one of its kind in the local region, gets just one referral a year, which makes Bonkowsky think kids are slipping through the cracks.
“It’s a little bit concerning that we’re missing people we should be trying to help,” he said.
Adding adrenoleukodystrophy to the list of conditions screened at birth, Bonkowsky said, will help keep track of children who carry the genetic mutation, and with it, the possibility of the potentially devastating neurodegenerative disease.
“If you had to choose a time in history to have this disease, now is the time,” Bonkowsky, who has been instrumental in developing treatment and spreading awareness of the disease, said. As a medical student, when there wasn’t a treatment for the condition, he said he often thought, “There must be a better way than this.”
Testing for the condition, he said, isn’t necessarily worthwhile unless there’s a known family history.
But Horton said she’d screen for whatever condition she could if it meant keeping her loved ones alive. She said that the more people who are aware of the condition, the better, as they can make a choice to not pass it to their own children.
“I do not want to perpetuate the disease,” she said. “Let’s stop this disease.”
The Newborn Screening Program will help.
For a condition to be added to the already successful infant blood spot test, it has to be efficient and economical, but there also has to be a treatment available that would provide life-changing effects for a patient and their family, said program manager Kim Hart.
“We can do quite a bit with a small amount of blood,” she said.
Thirteen states currently screen for adrenoleukodystrophy. The process to include it is in the works in several other states, but Hart said it can be expensive to test for new things.
In this case, Utah’s governor will have to approve a kit fee increase of about $3 (for three additional reagent tests). This will bring the cost for the screening to $118 per baby, which is usually billed to the parents or the insurance as part of the hospital charges.
“It’s very important,” Hart said. “Once these kids get a bone marrow transplant, they’re healthy. It’s amazing. The problem is identifying them early enough because when there’s been too much white matter change, it can be too late. You can’t get back what you’ve lost.”
Losing her oldest to adrenoleukodystrophy, Horton said, was so hard.
At first, Tyler seemed to be losing his hearing, when in fact it was his comprehension that was going. Then he started walking with a limp.
Bonkowsky said symptoms are subtle and show up over time. And many times, it’s too late to treat them.
“It was such sadness,” said Horton. “It was our firstborn and it was like all our hopes and dreams for our child went down the drain.
“A parent shouldn’t have to bury their child.”
The experience, however, she said, has made them all more compassionate and empathetic for other families dealing with similar tragedies.
“You grow up a lot more,” Horton said. “And more quickly.”
She hopes, with the help of the Newborn Screening Program in Utah, that no one has to endure what her family has.
If all goes as planned, screening for adrenoleukodystrophy, as well as for Pompe disease and a mucopolysaccharidosis — two other conditions present at birth and for which a treatment exists — will begin in the fall of 2019.
For more information on Utah’s Newborn Screening Program, an aspect of the Utah Department of Health, visit health.utah.gov/nsp.
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