New drug offers hope to Edmonton woman with rare disease

For the first time in years, Laurie Young can hold a coffee cup to her lips.

Now approaching her 52nd birthday, the Edmonton woman was two years old when she was diagnosed with spinal muscular atrophy, a rare genetic disorder that causes chronic wasting of the muscles.

The condition can be deadly; many patients with Type 1 SMA die before their second birthday. Young has Type 2 SMA. It progresses more slowly but has left her a paraplegic.

For years, Young has tried to get access to medications that could treat the disease.

She worked to get coverage for a drug called Spinraza, writing letters to health ministers and even filing a human rights complaint.

The treatment, which costs more than $700,000 for the first year, is currently only covered in Alberta for people 18 and under. Young’s appeals for coverage were denied and she considered moving to Saskatchewan or Quebec where the treatment is covered.

New drug brings hope

But recently she was accepted under a compassion program for the latest treatment, a drug called risdiplam, which comes with a hefty price tag.

“$12,000 a vial,” Young said. “And so I go through about four vials a month. That’s $48,000 if my math is correct.”

Young’s medication costs 12 thousand dollars a vial and she uses 4 vials a month. (Emily Fitzpatrick/CBC)

After two months on risdiplam, Young says she can feel how it is working to improve her strength.

“What’s so reassuring about this is my disease won’t get any worse,” she said. “I won’t have to face a respirator or a feeding tube. And that was always the fear, of seeing yourself get weaker and weaker and not knowing how far it would go.”

Evrysdi, the company that makes risdiplam, is paying for her drugs through their compassion program, which is no longer an option now that it has been approved by Health Canada.

She qualified for the program just a week before risdiplam was approved. 

Now it is up to each province to decide who will qualify for the treatment.

Karin Campbell, a spokesperson for Alberta Health, said risdiplam is currently under review by the Canadian Agency for Drugs and Technologies in Health.

Final recommendations from the agency are anticipated this fall, Campbell said. Jurisdictions will then look to negotiate for Evrysdi through the pan-Canadian Pharmaceutical Alliance (pCPA) process in order to achieve better value for drugs and achieve more consistent drug funding decisions, Campbell added.

Situations like Young’s aren’t uncommon, according to Durhane Wong-Reiger, president of the Canadian Organization for Rare Disorders. 

Durhane Wong-Reiger says only about 5 per cent of rare disease actually have a treatment (Canadians Organization for Rare Disorders)

“The travesty of the Canadian health-care system is that it’s a wonderful system if you don’t need anything that’s out of the ordinary,” Wong-Reiger said.

“If you need something that’s going to be more difficult, if you need something that is more costly, then the system kind of doesn’t want to have to deal with that.”

Young said that while she is glad she is getting the new drug, she worries that other older SMA patients will be forgotten.

“Initially, you know, I did this, it was all about me. I was fighting for me in my treatment and that was that. But now, what I hope for is all adults with rare diseases, whether it’s spinal muscular atrophy or something else we’ve not heard of, get the treatment that they deserve.”

Young said her parents and doctors never expected her to live to be 52.

“I can say living with Type 2, my life has been extremely normal, as normal goes. I’m married, I have a career, I have friends, I have travelled,” she said.

“My life is as normal as anybody else’s.”

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