Beth and Madi Vanstone are still fighting hard to better the lives of people diagnosed with atypical medical conditions.
The mother-daughter duo continues to push for a federal Rare Disease Drug Strategy, roughly one year after going to Ottawa through the Canadian Organization for Rare Disorders (CORD), where they advocated to MPs and even received a statement of recognition in Parliament for their work on behalf of cystic fibrosis (CF) and other rare-disease patients.
While the federal government announced measures in support of the first-ever National Strategy for Drugs for Rare Diseases months ago, with an investment of up to $1.5 billion pledged over three years, little progress has been made on the matter since that time, Beth said.
“This past year, Madi and I have travelled to Ottawa, Calgary and Queen’s Park to participate in conferences and efforts to raise awareness for rare diseases,” Beth told BradfordToday. “Sadly, despite the community's best efforts the announced drug strategy has still not been implemented. We have seen too many die in this country while they waited.”
For more than a decade, Beth has been advocating on behalf of CF and rare-disease patients after Madi was diagnosed with CF at the age of eight months in 2001. In November, the Vanstones were named among 12 "changemakers" in Canada’s rare-disease community — the official campaign, called I Am Number 12, was launched by 13 Canadian rare disease organizations, in partnership with pharmaceutical company Takeda Canada.
There are thousands of rare diseases that affect patients, their families and caregivers across the country, Beth said.
An estimated 7,000 rare disorders exist worldwide. On average, it takes six to eight years before a patient gets a correct diagnosis. In this time, they will see an average of eight physicians and receive two to three misdiagnoses.
In Canada, most treatments for rare disorders get approved up to six years later than in the United States and Europe, she said.
As an example, many younger people diagnosed with CF are having trouble accessing the drug Trikafta, which Cystic Fibrosis Canada says has the potential to significantly slow disease progression.
In people with CF, mutations in the transmembrane conductance regulator gene result in either a defective protein being produced or none at all. This leads to the buildup of thick, sticky mucus, which can cause infections in the lungs and damage to the pancreas. It may also create problems in other parts of the body.
But treatments like Trikafta are designed to correct the malfunctioning protein, regulating the proper flow of water and chloride in and out of cells lining the lungs and other organs.
“As with all rare diseases, there is a small number of patients to participate in drug trials … which provide evidence of the effectiveness of the drug,” Beth said. “With (CF), there are thousands of mutations, some extremely rare. We currently have many young Canadians with rare CF mutations who are still unable to access Trikafta due to the prescribing criteria written when the drug was submitted. This was before learning that these rare mutations existed and that Trikafta would benefit these patients.
“The promised (drug strategy) will help Canadians access therapies in a timely fashion and help save and improve the lives of them and their families.”
