Vancouver Sun: An Abbotsford boy's devastating diagnosis, and the clinical trial that saved his life

Emmett Willms, 8, and dad Josh Willms. Emmett was diagnosed with spinal muscular atrophy, a rare neurodegenerative disease, when he was five months old.

Article Written By: Cheryl Chan

Source: Vancouver Sun

Emmett Willms was just five months old when his parents, Josh and Alisha, started noticing their first-born didn’t seem to be hitting typical physical development milestones other infants did, such as grasping adult fingers or holding his head up.

The Abbotsford family was referred to B.C. Children’s Hospital in Vancouver. He was diagnosed with spinal muscular atrophy, a rare genetic neurodegenerative disease that causes muscle weakness and wasting.

“It was really earth-shattering for us as a family because at the time, there was no treatment, no options,” recalled Josh Willms. He was told that kids who have type 1 of the disease, which Emmett did, don’t live longer than a year or two.

“But that’s not our story anymore.”

Emmett was one of the lucky ones. On the same day he was diagnosed, his neurologist enrolled him for a clinical trial for a new drug called Spinraza.

It was a Hail Mary for the family: They didn’t know if Emmett would get the medication or a placebo; even if he got the drug, they didn’t know if it would work.

Within months, however, Josh and Alisha began noticing incremental improvements in Emmett’s movements. How he’d move his hands, for example. “In physical testing, he got zero at first then it was a 1, which became 2, then 3.”

The Willms are sharing their experience to raise awareness of the life-changing impact of clinical trials and to support fundraising for B.C. Children’s Hospital’s clinical trials super hub, which would put together teams of highly-specialized clinical research staff who have the expertise and capacity to drive clinical trials forward.

The project is a long time coming, said Dr. Quynh Doan, senior executive director of the B.C. Children’s Hospital Research Institute.

Clinical trials allow for testing of new medications or treatment options before they are available to the public and before they are accepted as a standard of care, she said.

They are expensive to conduct, requiring teams of investigators, nurses, coordinators, labs and pharmacies to work together to meet regulations and rigorous settings for safety and quality control.

“All that is very challenging for an individual investigator to take on,” said Doan.

The super hub would set up that infrastructure, so when doctors or researchers want to conduct a clinical trial, they don’t have to start from scratch. It can also be used to support investigators for clinical trials sponsored by the pharmaceutical industry, which still requires time and a lot of effort, often resulting in delays.

“Sometimes a trial would close even before we could recruit our first patient in,” she said.

Once the super hub is set up, new treatment and therapies can be pursued quicker and easier, and instead of depending on other experts elsewhere to conduct possibly groundbreaking trials, “we can be the ones setting it up and leading the charge.”

Once it’s up and running, the plan is to expand the program to other parts of B.C. and Yukon so more children can access clinical trials without having to travel to Vancouver.

Currently, only about 15 per cent of registered clinical trials are for children, noted Doan.

The B.C. Children’s Hospital Foundation has launched its fundraising campaign to establish the super hub, with a goal of $12.4 million, which would make the initiative sustainable. Fundraising kicked off last weekend at a gala in downtown Vancouver, raising $4.2 million.

Doan said she’s already hearing from doctors from a range of specialties about getting clinical trials off the ground. She expects the program to dramatically increase the number of clinical trials conducted at B.C. Children’s Hospital, allowing more sick children to access treatment options that otherwise won’t be available to them.

The super hub is an “amazing” initiative, said Willms. “It’s an opportunity for other families to experience the same gift of life we have been given.”

Today, Emmett is in Grade 3 and attends in-person classes. He is in a power wheelchair, has started playing power soccer, and is a loving, playful big brother to two-year-old Theodore.

He still takes Spinraza through a lumbar puncture three times a year — something he’ll have to do for his lifetime.

“Emmet was not expected to live past one or two and he’s eight now,” said Willms. “He’s way stronger than he has ever been, doing things we weren’t sure he would be able to do.”

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