Researchers at Children’s Mercy receive grant to study deadly childhood disease

KANSAS CITY, Mo. – An international team of researchers, including researchers at Children’s Mercy in Kansas City, received a $3.1 million a grant to investigate a devastating childhood disease.

Children’s Mercy said researchers will use the money to study a deadly childhood disease, leukodystrophy.

It’s a rare genetic disorder that affects 1 in 5,000 children. Doctors say it causes progressive loss of neurological function.

One mom whose son has the disease said this offers hope.

“It’ll be a lifeline for so many families,” Conner’s mom Kirsten Finn said.

At 4 years old, Conner Finn was diagnosed with Childhood Cerebral Adrenoleukodystrophy.
Finn said it was by chance they caught it.

“When a child starts to develop cerebral disease, there’s a very narrow window for transplant,” Finn said. “So, children who are not identified, if they miss that window for transplant lose their sight, lose their hearing, their ability to eat, walk, communicate, until they fall into a vegetative state and die.”

During the pandemic Finn’s family moved from Canada to the U.S.

Conner had a cord blood transplant, which halted the progression of the disease.

“When Conner was diagnosed, I don’t think I’ve been more terrified in my entire life,” Finn said. “Our family was extraordinarily fortunate. So, it means so much to our family to know that all the scientists are working on this getting these diagnosis for children so that families and parents have a chance to fight.”

The National Institutes of Health awarded the $3.1 million grant.

Dr. Tomi Pastenine said it will extend genomic tools developed at children’s mercy to understand the unsolved leukodystrophies.

He said there are more than 60 forms of Leukodystrophy.

Some can be treated – many more have experimental therapies available.

“Knowing exactly what type of leukodystrophy a patient has can be the difference between life and death,” Pastenine said.

He said part of this research goes beyond sequencing the genome and naming the disease.
“It actually takes the patients cells and tries to understand the mechanism of disease – and that sets us into a path of developing new therapy,” Pastenine said.

Finn said right now, there’s no cure for ALD.

Conner has a lesion on his brain and still deals with some processing, auditory, and visual challenges, as well as the adrenal insufficiency.

Mom said Conner’s a happy 8-year-old and they’re excited about the research to come for families.

“To have answers for their children,” Finn said. “As all of the new therapies continue being developed, to be able to access that treatment, instead of being told you have to take your child home to die, it’s huge.”

Pastinen is set to speak at the RARE Advocacy Summit in Kansas City at the Loews Hotel — sharing more on this research.

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