Beth Vanstone considers herself lucky, having landed upon treatment for her daughter’s cystic fibrosis as well as a way to fund it.
She knows so many others with rare disorders who have no access to treatment.
The Vanstones are among those involved in bringing attention to a population desperately seeking help and answers. One of the approaches was to mark International Rare Disease Day in Canada on Feb. 28 with a webinar presented by the Canadian Organization for Rare Disorders.
“All rare disorders patients face the same challenges” searching for a pathway to fast, effective and equitable access to life changing therapies, says the senior Vanstone.
The Vanstone family’s journey began when Madi was diagnosed with cystic fibrosis (CF) at eight months of age. CF is an inherited disease that causes damage to the lungs, digestive system and other organs in the body.
Madi spent months in the hospital every year. Her mom describes her quality of life as horrendous.
By age 11 her lung function had dropped to 50 per cent and there was a very real possibility that she would need to undergo a lung transplant. But the Vanstones, who live in Beeton, were able to join a trial for a gene modulator — a drug therapy designed to correct a gene.
“It was life changing … her lung function increased by 30 per cent… all her issues were resolved,” says Beth.
She subsequently tested negative for CF while on the drug.
The Vanstones know they’re lucky, that particular drug was only effective in less than four per cent of the CF population.
“It was like winning the lottery,” says Beth.
Durhane Wong-Rieger, president and chief executive officer of the Canadian Organization for Rare Disorders, explains that many rare diseases remain undiagnosed and those that are diagnosed are often not treated with appropriate therapies.
The impact on patients, she says, is that they suffer unnecessarily as the disease progresses.
“The impact on the health system is that patients continue to present in emergency rooms with unexplained symptoms and also continue to be treated in chronic care beds when properly diagnosed and supported they could leave hospital and be effective members of society, going to school and work,” says Wong-Rieger.
Ontario had a proposed rare disease plan about eight years ago to provide diagnosis and integrated care but it was never implemented due to change in government, she adds.
Even though the Vanstones knew they were lucky, having landed on an effective therapy, they faced another huge hurdle: paying for the drug which would cost $350,000 annually — way out of reasonable range for any average family.
Beth says she begged her insurance company to add it to the family plan. They agreed to cover 50 per cent. The drug company agreed to cover 30 per cent. The remainder, $7,000 per month, was up to the family to raise — still a lofty amount for most families.
But without the drug, the family knew Madi’s health would spiral.
Then the community came to the rescue, raising enough money to keep Madi on the drug for a while.
“We realized at the time having the community fundraise was not sustainable … we knew we needed to add this drug to the provincial formulary,” says Beth. “It took two years (of advocating, including trips to Queen’s Park) but it was finally covered.”
With Madi, now 23, able to lead a relatively healthy life, the Vanstones continue to advocate on behalf of others.
"Over the years I have made many friends with rare diseases, and I have learned that the challenges I have faced in regards to access to treatments were often universal problems in the rare community,” says Madi. “It has been eye opening talking to other patients, and these friendships that I have made are really what inspires me to continue my work in advocacy. I'm fighting for my friends too."
By sharing their stories and advocating on behalf of others, Madi and Beth have made significant impact in Ontario and across the country, says Wong-Rieger. But change is slow and not enough and the continued advocacy of patients is critical to effect change, she says.
Two years ago the rare disorders community celebrated the introduction of the federal rare disorders drug strategy for funding for rare diseases. While it is considered a significant advancement, it’s designed as a bilateral agreement requiring provinces to sign on. Ontario is among the five signatories.
The result, says Madi’s mom, is a postal code lottery.
“What drugs may be avail in Ontario may not necessarily be available in other provinces,” she says, “which leaves you with very inequitable access to therapy” forcing people to move provinces with the drug or live without it.
“Canada deserves better than that.”