INDIANAPOLIS—Dalton Minnick was a happy and healthy 10-year-old when he suddenly developed a hearing loss followed by a change in behavior, becoming aggressive and confused.
His mother, Jennifer Lindsey, suspected a brain tumor, so she took Dalton to the family pediatrician for an MRI. The results puzzled their doctor, who referred the Evansville family to a pediatric neurologist at Riley Hospital for Children.
At Riley, the neurologist determined that it wasn’t a brain tumor causing the abrupt changes in Dalton. It was adrenoleukodystrophy or ALD, an incurable and often fatal genetic disease.
On Dec. 13, 2016, about five months after his diagnosis, Dalton was dead.
While still in treatment, Dalton asked his mother to go to medical school to help other children with ALD and Lindsey told him, “I promise you, I will do everything I can to help in any way possible.”
For the next three years, Lindsey focused her efforts on getting a law passed that requires ALD testing to be added to the list of about 50 newborn screenings already conducted in Indiana.
Her efforts were successful in the 2020 session of the General Assembly when Rep. Ryan Lauer, R-Columbus, authored a bill—House Enrolled Act 1129—adding ALD to the infant screening test.
“It’s tragic to hear the grief and the pain that these parents went through,” Lauer said, adding that lowering the infant mortality has been a recent bipartisan concern among Indiana lawmakers. “The amazing thing is, if it’s treated early, these kids can lead a normal, full and healthy life with the treatments available today.”
ALD screening is the last infant test on a list of federally recommended newborn screenings that Indiana has made mandatory. Starting July 1, 2021, all hospitals in Indiana will test every newborn to determine whether they are a carrier for the gene that causes ALD. Testing doesn’t begin until 2021 to give hospitals time to prepare.
The test itself is done with a heel stick—a doctor pricks the infant’s heel and collects a small blood sample to run multiple tests. Funding for the test has already been appropriated into newborn screenings and costs about $2.
Adrenoleukodystrophy is an X-linked chromosomal abnormality that disproportionately affects males. It causes deterioration of the myelin, the fatty material that surrounds nerve cells in the spinal cord and brain, preventing nerves from relaying information to the brain and often results in death.
Symptoms usually appear between the ages of 4 and 10 and include behavioral changes – aggression and hyperactivity, physical difficulties, vision problems, loss of hearing, seizures, paralysis and difficulty swallowing. But by the time symptoms develop, it’s impossible to reverse the effects and current treatment options cannot stop the progression of the disease. Most children with childhood ALD don’t make it past 10 years old.
The screening can help because parents and doctors will know immediately if the child is a carrier of the gene. Bobby Lapin, development director and general counsel for the Stop ALD Foundation, said that after discovering that the child is a carrier, parents should schedule a brain MRI about every six months after age two.
“The reason that you do that,” he said, “is because the only definitive way to determine whether someone who has the ALD gene will actually develop the cerebral disease is by an MRI of the brain.”
Every six months the child gets an MRI so that the doctor and families will know to catch the disease when it first appear and can begin treatment, Lapin said. Treatment includes a stem cell transplant or Lorenzo’s Oil, a mixture of fatty acids that works to reduce the levels of fatty acids that cause ALD.
“In Dalton’s case, if he would have had newborn screening and we would have known in advance, he could have qualified for gene therapy,” Lindsey said. “And he’d be alive today.”
As of January 2020, 19 other states test for the disorder at birth. It is thought that one in 17,000 people are born with ALD, but since so few states test for it and it is often misdiagnosed, it could be more common.
“Once we start testing, we’ll know a lot more about how prevalent it really is,” Lauer said. He said that the screenings could save a dozen Hoosier lives each year, though.
“It’s been a long road,” Lindsey said. She has spread the word about ALD over the years through advisory boards, conferences and a book she wrote.
Andrea Rahman is a reporter for TheStatehouseFile.com, a news website powered by Franklin college journalism students.