Hope and heartbreak: Expensive drugs for rare diseases are both a gift and a challenge

For the Willms family of Abbotsford, B.C., there's no debate about whether the province should cover new expensive therapies for rare diseases.

Their three-year-old son Emmett was diagnosed with the most severe form of a condition called spinal muscular atrophy at five months old. They were told it was unlikely he would live past his first birthday.

"It was the worst day of our lives," said Alisha Willms.

Spinal muscular atrophy is a rare genetic disorder that affects the nervous system, specifically the part that controls muscle movement.

The only hope for Emmett was a clinical trial for a new drug called Spinraza at B.C. Children's Hospital. At first, the Willms were cautious about whether to subject their son to an experimental treatment.

"We didn't want to make it worse if we only had a couple of months with him," Alisha said.

But in the end, they decided it was worth a shot.

The results were impressive. Emmett went from struggling to avoid choking on his own saliva to sitting up.

"He's responded amazingly to the drug," said his father Josh Willms.

The only problem is that Spinraza costs hundreds of thousands of dollars per year, and patients must take it for the rest of their lives.

The exceptional cost would have been out of reach for the Willms once the clinical trial ended. But then, the province announced it would cover Spinraza for Type 1 patients like Emmett.

"To us, it literally is Emmett's life," said Josh.

'This is the challenge'

Spinraza is part of a growing class of drugs the B.C. health ministry describes as "expensive drugs for rare diseases."

The province is not disclosing the negotiated price it will pay for Spinraza.

But the drug has a list price of roughly $750,000 for the first year of treatment, and about $350,000 annually after that. Health officials confirm it will cost several million dollars per year to treat fewer than 30 patients in B.C.

"This is the challenge," said Adrian Dix, B.C.'s health minister. 

"In previous decades the industry did not pay much attention to rare-disease drugs because they didn't see a market for them. Now they have a strategy, which is to set an exceptionally high price."

In the case of Spinraza, Dix says the benefits are well worth the cost, especially given that there is no alternative treatment.

The drug is still under review by the Canadian Agency for Drugs and Technologies in Health — the agency that advises provinces on whether to fund drugs — to determine its effectiveness for people with milder forms of spinal muscular atrophy.

Coverage could be expanded for Type 2 and Type 3 patients in the future.

'Bankrupt the province in a second'

The province currently covers the cost of 16 expensive drugs for rare diseases with list prices ranging from $100,000 to more than $3 million.

Another 13 drugs are under review, which could cost the B.C. health care system another $75 million per year for the treatment of about 250 patients.

"If we approved coverage for all of these new treatments, you would bankrupt the province in a second," said Alan Cassels, a drug policy researcher at the University of Victoria.

"That is why you have to make very difficult and sometimes excruciating decisions about whether they should be publicly covered."

Given that individual patients are unlikely to be able to pay for medications for rare diseases, the drug industry relies on provinces to provide coverage, Cassels said.

For that reason, independent and evidence-based evaluation of the effectiveness of each new medication is critical to ensure that province does not overpay, he added.

In some cases, the heartbreaking answer for patients will be "no."

'Hundreds of millions' in potential costs

For patients in this province, the decisions on which of this growing class of drugs to fund ultimately falls to the B.C. Drug Benefit Council.

"It's one of the challenges we face in public health care and in pharmacare," Dix said. "The upstream potential costs for British Columbia just in the next five years is in the hundreds of millions of dollars."

But for the Willms family, provincial coverage for Spinraza is priceless.

Emmett is thriving, and not only that, but Josh says his son has spent far less time in hospital since starting on the drug, saving the province money on expensive acute care.

The Willms hope the province will soon expand coverage to all patients with the disease.

"For us, it's just a sense of security knowing that our son isn't going to lose the skills that he has already gained because of this drug and that we can have more time with him," said Josh.

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