B.C. family searches for stem cell donor to save child with rare neurological disease

An Abbotsford, B.C., family is racing against time to find a bone marrow donor for their seven-year-old son, Bowin Funk, who has a rare neurological condition.

The boy was diagnosed with adrenoleukodystrophy (ALD) in December 2019, with his parents Chantel and Jason Funk saying the latest MRI scan on their boy shows signs of minor brain damage.

ALD can lead to serious complications as the disease progresses, which includes lifelong disability and death. It affects myelin, which acts as a sort of "insulator" around nerve fibres in the brain, as well as the spinal cord.

Currently, the only accepted treatment for the disease is a bone marrow (stem cell) transplant which is accompanied by aggressive treatment within a specific window.

While Bowin is in the care of doctors at the B.C. Children'sHospital, a University of Calgary expert says the doctors with the most experience treating ALD are based in the U.S., in Minnesota.

"We don't love the idea of having to leave our entire life to go down somewhere foreign for six months," Chantel told CBC News. "Although, you know, it could be a great opportunity."

But the family hasn't been told if the province would fund their out-of-state treatment in Minnesota. And without insurance, the up-front costs they face would total more than $1.25 million.

As the Funk family considers their next steps to save their child, those who have seen the disease first-hand say Canada should consider screening for the condition at birth and improve out-of-province coverage options.

"My hope isn't just for children in B.C., my hope is for across Canada that we have a good and successful treatment and we can advocate for change here in Canada," Chantel said.

"It puts a little bit of purpose into what we're going through. And as [someone] who's been through something hard, finding the purpose in it helps sort of see you through."

Disease more often seen in young boys

Dr. Kim McBride, the department head of medical genetics at the University of Calgary, said the disease is extremely uncommon. He estimates it at around one in 15,000 individuals.

"[It's] an interesting disease," he said. "Even though you may have a genetic change that says you may develop this disease, you may not always get it."

McBride says the only other option forALD treatment is gene therapy which has been approved in the U.S. and Europe, but not in Canada.

The doctor also said that the disease, while uncommon, is more often seen in young boys than girls.

One of those boys is Saskatoon child Conner Finn, who was diagnosed with ALD shortly after COVID-19 restrictions came into place in June 2020.

Finn's family had to liquidate their life savingsto move to Minnesota and get Conner treatment there something that ended up saving him.

While the province of Saskatchewan initially refused to cover the child's treatment, they eventually provided more than $800,000 after advocacy from Conner's mother, Kirsten.

In an interview with CBC News, Kirsten said that all provinces in Canada should consider screening for the disease at birth something she says already happens in 37 U.S. states.

"When you look at it like the cost of screening versus the cost of the medical care that might come later on and as a result of not screening it's really a no-brainer," she said.

McBride said the cost of an ALD test for a newborn would not be any more expensive than regular mandatory tests.

Finn says she is pushing for more people to add themselves to the stem cell donor registry.

She also says provinces should be more open to covering out-of-province medical costs for ALD, potentially by partnering with U.S. laboratories that are specialized in rarer diseases.

A spokesperson for the B.C. Ministry of Health said they could not comment on Funk's individual case, but that generally, a medical specialist should provide a referral so the provincial medical insurer can cover out-of-province costs.

"The specialist needs to provide information about what other treatment options have been explored elsewhere in B.C. and/or Canada," they said.

"Treatment that is considered to be experimental or still in the developmental (research) stage is not eligible for coverage."