One in 14,000 boys around the world will be diagnosed with ALD. But now, with infant screening and gene therapy, it's not a death sentence.
Five months ago, 8-year-old Grady Smith of Salem, New Hampshire, was diagnosed with Adrenoleukodystropy, more commonly known as ALD.
"We thought he couldn't hear us well, and it was very quick," said his mother, Jill Smith.
It's a devastating neurological disease that destroys brain tissue and causes death in young boys.
"It was a punch in the gut," the boy's father, Jeff Smith, said of the diagnosis. "It makes you sick."
The disease was portrayed in the 1992 movie "Lorenzo’s Oil."
"We literally thought that was the end, like I was thinking the whole summer, 'This is the last time I'm going to play football with my son," Jeff Smith said.
Treatment went fast. Grady Smith received a bone marrow transplant in September 2018 and is now recovering, with an incredible prognosis, thanks to recent advances in research and gene therapy in Boston.
Dr. Florian Eichler, a neurologist at Massachusetts General Hospital, works with a team of local doctors at Boston Children's Hospital and Dana-Farber Cancer Institute to treat the disease.
"It used to be a lot of boys coming in in wheelchairs on deaths door," he said. "Now, they're coming after treatment reporting back from soccer camp and reporting about fulfilled lives."
Eichler says mothers carry the gene that causes the disease in boys — a fact that crushed Jill Smith.
"As a mom, feeling that your child is sick because of you is awful," she said.
Jill Smith recently found out she didn't carry the gene that caused ALD in her son. It was a rare mutation.
A pilot program in Massachusetts screens infants so treatment can prevent symptoms and heartache from even occurring. The Smiths hope it becomes law, like it is in other states, so every baby is automatically tested.
"The test costs $2.50. It's a heel prick test at birth," Jill Smith said. "It would save so many children."
Grady Smith wears the date of his transplant, "20," on his beloved Patriots jersey. He is dealing with permanent auditory issues he can manage with therapy.
The family says it has been overwhelmed with support, including from the boy's favorite player Patriots player, Julian Edelman.
"He's really, he's a miracle boy," Jill Smith said.
Eichler says thanks to the Internet and global outreach, he treats ALD patients from all over the world. And now with stories like Grady Smith's, there's some real hope.
"The screening, as well as the new genetic therapies, have been just transformative," he said.
Last year, Aidan's Law was introduced in Congress. It would require and fund states to test for ALD.