Rare Disease Day is February 28, and Bradford West Gwillimbury mother-daughter duo Beth and Madi Vanstone will be at Queen’s Park to meet with MPP's to discuss the need for a Rare Disease Drug Strategy.
They’ll be advocating alongside the Canadian Organization for Rare Diseases (CORD) after promoting the strategy in November at Queen’s Park with Cystic Fibrosis Canada.
According to CORD, about 3.2 million Canadians have a rare disease, more than the number with diabetes, cardiovascular disease or all cancers combined.
More than two-thirds affected are children and more than a third of those children will die before their fifth birthday; in Canada, every 39 minutes, a child dies of a rare disease. Only 60 per cent of treatments for rare disorders make it into Canada and most get approved up to six years later than in the USA and Europe.
“We need a Rare Disease Drug Strategy so that people aren’t being left behind and we can catch up with the rest of the world,” said Beth. “One in 12 Canadians have some form of a rare disease, it can happen to anybody at any time. There are drugs and treatments that can save people's lives, but we need to catch up in Canada. Currently only 25 per cent of the people who require therapies that are coming into Canada for rare diseases are actually getting them.”
For more than 20 years Beth has been advocating on behalf of Cystic Fibrosis (CF) and Rare Disease patients after her daughter Madi was diagnosed with CF at just eight months old in 2001. CF is a genetic chronic fatal disease.
“She was really sick with it,” said Beth. “She was spending a month every year in the hospital clearing infections. It didn’t look good for her and it was a fight to keep her healthy with no promising therapies or treatments at the time for Cystic Fibrosis.”
In 2011, Madi had missed 96 days of school due to CF with her quality of life being impacted by all of the different symptoms and she was asked to participate in a trial for a new drug to treat the disease at the gene level.
“Madi had always participated in everything, as most people with CF and rare diseases do, because you need research to promote better therapies and treatments,” said Beth. “It was a blind study with 30 days on the drug, a 30-day washout period, and 30 days off the drug. Within a day of being on the drug she told me she could breath through her nose for the first time.”
The drug helped take her lung function from the low 70 per cent to 115 per cent of expected value within 30 days of taking it.
“She started to gain weight, which she had struggled with for years; she was under the fifth percentile in height and weight,” said Beth. “Her energy was outstanding and issues she had with her digestive system were resolved. It was amazing.”
The Vanstone’s knew the drug (Kalydeco) was effective, but it was expensive—as many rare disease drugs are—and that led Beth and Madi to Queen’s Park the first time to lobby to have it added to the Provincial Drug Formulary.
“We wanted to make sure that people who needed it would have it covered by the province,” said Beth. “It took us about two years to get it done, but we were successful.”
The drug was the first gene modulator for CF and inside the rare disease there are over 2,000 different types of CF.
“Children each receive a copy of a defective gene from their parents and there’s so many different combinations of genes,” said Beth. “So this particular drug only effectively treated three to four per cent of the CF population. Madi had essentially won the draw by having this rare gene that would be treated by Kalydeco.”
This was when Beth and Madi began to realize how flawed the system was and how difficult it was to make life-saving medication available to those with rare diseases.
“Other drugs were developed by the same company that would treat the other forms of CF,” said Beth. “So we continued to advocate alongside patients to try and have these other drugs covered for other patients.”
One of those drugs was Trikafta, which effectively treated 90 per cent of the CF population.
“People were coming out of beds who had been waiting for a lung transplant and going back to work, it was unheard of; it was called a miracle,” said Beth. “The U.S. had access to it right away, but at the time it hadn’t even been submitted to Canada because of new regulations being put in place about pricing.”
Due to the uncertainty around pricing, the company was delaying submitting it to Canada.
“They didn’t want to send it in and have it caught in this mess,” Beth said. “We lobbied alongside patients at the federal level to have those changes halted so that the drug would be submitted. We watched countless young people die.”
One of those young people was 23-year old Nova Scotian, Chantelle Lindsay, who didn’t have access to the drugs she needed to fight CF.
“She came off her parents insurance and the drug wasn’t covered by the province and she died,” said Beth. “It’s gross that things like that happen in a country like Canada, and that’s just one of the stories.”
The advocacy of Beth and Madi led to 37 MP’s to raise the question to Patty Hajdu, the Minister of Health at the time, about easing access to these life-saving drugs.
“Eventually we made so much noise as a community that they wrote to the company (Vertex) and asked them to please submit the drug; that’s unheard of,” said Beth. “They submitted it and fast-tracked it, but it still took six months to get through because Canada has one of the most challenging drug systems in the world.”
Once it came through, Beth and Maid fought to have it added to Provincial Drug Formulary, and it was.
“It’s changed the lives of nearly 90 per cent of patients living with CF across Canada and their families,” said Beth. “I’ve been able to witness all of these people going back to their lives and having futures they never thought they’d have because of this disease.”
Over all these years of advocacy, Beth and Madi have recognized that this isn’t only a CF problem, but a rare disease problem. A rare disease is a condition affecting fewer than one in every 2,000 people and there are over 7,000 rare diseases.
“In Canada there’s over 4,000 patients that suffer from CF,” said Beth. “But there’s also diseases that just one or two people suffer from and if you can imagine we had that much trouble getting a drug in for 3,500 patients, when there’s only one there’s so much more red tape.”
The U.S. recently celebrated the 40th anniversary of the Orphan Drug Act, an act passed by congress in 1983 to stimulate the development of drugs for rare diseases.
“Canada doesn’t have one, rare disease drugs are not treated any differently than aspirin,” said Beth. “You cannot treat these drugs the same. When an aspirin is coming through the system and it takes two years it doesn’t matter because there’s 100 other aspirin on the shelf. When a drug is coming in that is going to save a 21-year old, you have to treat it with the urgency it deserves. That’s certainly not happening in Canada.”
In November, CORD wrote a letter to Canada's provincial and territorial health ministers detailing why rare diseases must be addressed swiftly in Canada. The letter can be found here.
On February 28, the CN Tower, Calgary Tower, Edmonton High Level Bridge, Niagara Falls, and the Toronto sign at Nathan Phillips Square will be lit up to recognize Rare Disease Day. Learn more about Rare Disease Day and donate here.
