Beth Vanstone knows well the anxiety of waiting for a child to be diagnosed with a rare disease — and the relief of finding an effective treatment.
Shortly after her youngest daughter Madi was born, Vanstone noticed that her baby was always congested and had difficulty breathing.
After eight months of pleading with doctors to convince them something was wrong with her daughter, Vanstone managed to get Madi a diagnosis: cystic fibrosis, a genetic disease that causes mucus to thicken and plug up the lungs.
Cystic fibrosis is a rare disease, even though well-organized public advocacy means most people are familiar with it. There is no Canadian definition for rare diseases, but the Canadian Organization of Rare Diseases uses the definition adopted by the European Union: a rare disease affects one in 2,000 people or fewer. They are also severe, progressive, life-threatening and, in some cases, fatal.
In Canada, 14,000 children under the age of 15 die each year from a rare disease, according to the Canadian Institutes of Health Research.
There are more than 7,000 rare diseases worldwide, and it’s estimated that one in 12 Canadians has one. Because the individual diseases are often not well-known, these patients’ needs are often harder to meet.
Vanstone and her husband, Glenn, “didn’t really see a future” for their daughter, who often missed out on school and social events because of lengthy hospital stays. Vanstone, a financial planner, quit her job to care for Madi.
But when Madi was 12, the Ontario government agreed to cover Kalydeco, a cystic fibrosis drug that is effective for 20 to 40 per cent of Canadians with the disease. The drug enabled Madi to have a “normal, great life,” says Vanstone. (Madi, who is now 22, has since transitioned to Trikafta, another drug for cystic fibrosis. As of 2022, all provincial and territorial governments fund Trikafta for cystic fibrosis patients with specific gene mutations.)
“We can breathe a little easier,” Vanstone says of the relief the medications have given her and her family.
However, not every patient can access treatment for rare diseases. Last year, the federal government, announced $1.5 billion in funding over three years to support Canada’s first National Strategy for Drugs for Rare Diseases. Most of the money — $1.4 billion — will go to provinces and territories through bilateral funding agreements that improve access to existing and emerging drugs and treatments, the government’s press release from March 2023 says.
But nearly a year after the federal government announced funding for rare diseases, patients still have not seen a dollar of the money, says Durhane Wong-Rieger, executive director of the Canadian Organization for Rare Diseases, a national network of organizations that represent rare disorders.
“Why are we making patients wait when patients are actually getting progressively worse?” said Wong-Rieger.
In an emailed statement to Canadian Affairs, a spokesperson for Health Minister Mark Holland said discussions with the provinces and territories are “ongoing.” Funding for the bilateral agreements will start April 1 and run until March 31, 2027, the statement says. No agreements have been finalized but the government continues to have “productive and meaningful conversations” with provinces and territories.
People with rare diseases are “often the forgotten patients,” said Dr. Francois Bernier, a clinical geneticist at Alberta Children’s Hospital, who has worked with children who have rare diseases for more than 25 years.
Lack of support often leaves families of rare disease patients isolated, says Bernier. “They are probably some of the most challenged families I have worked with because of how challenging their medical and social issues are,” he said.
Addressing those challenges is not a simple task.
Since diseases are rare, medications and treatments are expensive and may max out families’ private insurance plans, says Wong-Rieger. Public funding is critical.
More than funding
Joanne Paquette, a 60-year-old Ottawa resident, knows the struggle of paying for medications well. Paquette was diagnosed with Ollier’s Disease as a child. The disease causes non-cancerous tumours to grow in the bones of legs and arms. Paquette has had more than 50 surgeries to remove tumours, and as a result, relies on pain medication to go about her daily life.
One of her medications is mostly covered by the province; the other is not. She tries to save money every month to cover the costs.
It is not easy. Most of what she receives through supply teaching, the Ontario Disability Support Program and the Canada Pension Plan disability benefit goes to rent and groceries.
She does not expect federal funding soon. But it would ease some anxiety “and maybe let me do something regular, like a normal person, maybe order pizza,” she said.
Rare disease patients need more than funding for medications though.
“The challenge of providing access to drugs is more than just funding the drug,” said Bernier, chair of the newly formed Canadian Rare Disease Network. The network aims to connect patient groups, researchers and clinicians to better support patients with rare diseases and their families.
The health-care system also needs to be prepared, says Bernier. Doctors and nurses need to be trained to provide treatments and to follow up with patients who require long-term treatments. There needs to be faster access to genetic testing, he says, noting patients wait years to access testing at his clinic.
He is not surprised that agreements with the provinces and territories about funding for rare disease medications still need to be reached.
“The system is complicated,” he said. Funding agreements between the federal government and provinces and territories typically take longer than a year to negotiate, he says.
More trials
On Feb. 28, the federal government announced $20 million in funding over five years to support the creation of RareKids-CAN: Pediatric Rare Disease Clinic Trials and Treatment Network. This funding is part of the federal government’s National Strategy for Drugs for Rare Diseases announced last year.
Most rare diseases — about 70 per cent — are diagnosed during childhood, often during the first years of life, says Dr. Thierry Lacaze-Masmonteil, who heads the network. Lacaze-Masmonteil is scientific director of the Maternal Infant Child and Youth Research Network, a federal charity that connects maternal and child health research institutions across Canada.
The goal of RareKids-CAN is to make sure that every child with a rare disease in Canada can access information about clinical research trials, no matter where they live, he says.
“One goal of this platform is to bring more trials to Canada,” says Lacaze-Masmonteil. Canada often misses out on clinical trials because of the country’s small population and vast landmass. There may be fewer than five Canadian patients who qualify for a clinical trial for rare disease treatment, he says.
Vanstone, Madi’s mom, says she hopes the federal strategy for drugs for rare diseases can help create ways for more patients to access drugs faster.
“Science and innovation is moving in leaps and bounds,” she said. New therapies are being discovered to treat rare diseases. But the process for approving drugs is slow and does not keep up with the pace of research, she said.
Even though her daughter has access to crucial medications now, Vanstone continues to advocate for those still fighting for drugs.
“Promises don’t save lives,” she said. “Drugs do.”
