Patient with rare disease pleads for life-saving drug funding

It took five years for Ronald Laberge to be diagnosedwitha life-threatening autoimmune disease that has left him riddled with infection, and it came none too soon.

InDecember 2018, Laberge was emaciated, in painand close to death.

One of the few Canadian doctors familiarwith his rare condition immunodeficiency with anti-interferon-gamma autoantibodies recommended rituximab, acancer and arthritisdrug sold under the brand nameRituxan.

Doctors at theHotel DieuHospital in Kingston, Ont.,administered one course of thedrug over four weeks, and in AprilLabergewas discharged.

He was able to walk on his own two feet for the first time in almostsixmonths.

But he needs more courses of treatment, which thehospital pharmacy estimates would cost about $15,000 every six months.

Only one problem:as an outpatient, the hospital no longer covers his medicine, and because the drug is not approved to treat Laberge's rare illness specifically,the province won't pay for it, either.

"You wait five years for the diagnosis, then they tell you,'We're not going to fund you,'" Laberge said in an interview at his home near Brockville, Ont.

"It's stressful."

Denied exceptional coverage

Rituximab isapproved for cancer and arthritis treatment in Ontario but not for Laberge'scondition.

In a statement to CBCNews, the Ministry of Health explained it wasreviewedby Health Canada and other experts for medical, economic and "societal/patient values" and funding it wasn't recommended.

Getting approval to use rituximabin Laberge'ssituation requires applyingthrough Ontario'sExceptional Access Program.

Dr. Anne Ellisapplied to have Laberge coveredbut he was denied. She appealed, and he was denied again.

Ellis said the review process for exceptional casesis hit and miss often the requesting doctor knows more about the diagnosis and treatment than the people reviewing theapplications.

"The ministry sends out the request to five different reviewers for their own expert opinion, but if none of us have seen the conditionbecause it is so rare, it could be hard to do an objective evaluation," Ellis said.

Manufacturer funds treatment for 1year

Elliswent to the manufacturer of rituximabto askfor funding on humanitarian grounds, and it agreed to pay for one year of treatment.

"I don't know whether a one-year course will be sufficient to produce long-term benefits," she said.

"I'm hopeful and optimistic, but we'll have to see how things go."

Advocates want that uncertainty to end.

Last week, former Ontario health minister Dr. Eric Hoskins unveiled anadvisory council's recommendationto establish a universal, single-payer public pharmacare system.

The council's report called for a national strategy for expensive drugs for rare diseases, noting the difficulty in conducting clinical trials for diseases that affect so few people.

The report recommendedcreating a national expert panel to review cases and monitor treatments.

The nationalstrategy would establish "a distinct pathway" for"innovative, life-changing drugs for rare diseases," and"support more consistent access" to them.

If accepted, it would only come into effect in 2022 too late to help the Laberge family after their year of free treatment runs out.

'Seamless system' needed

"I think it would be really helpful to have some sort of centralized process to help support patients who have such rare conditions," Ellis said.

Durhane Wong-Rieger, CEO of theCanadian Organization for Rare Disorders (CORD), called the ideaa good first step.

"We need a seamless system," she said.

Her group was consulted for the advisory council's pharmacarereport, and she saidthe acknowledgementthat drugsavailable in hospital should not be discontinued whenpatients are discharged is "very important."

She also called Laberge's case "very typical."

Whenpatients arediagnosed with rare illnesses, Wong-Rieger said it's not uncommon to have a limited treatment option involving adrug approved for more common illnesses, but notthe rare ones.

Call for 'more consistent access'

Laberge's wife Arlene Laberge,who has been called to hospital bedsides to say goodbye to her husbandmultiple times over the last five years,said the whole ordealhas beenunnerving.

"We've come this far, and now they're going to say to us, 'No, you can't have it,' after everything we've persevered through," she said.

"We've learned you can't plan too far ahead, and you have to really be grateful for every day you get."

Ron Laberge's second course of treatment, courtesy of the rituximabmanufacturer, will go aheadin July.

For now, they'retrying not to worry about who will pay for next year's treatment.