She faced major hurdles in her rare disease fight. These barriers can cost lives, experts say

The Life-Changing Struggle: Madi Vanstone’s Journey with Cystic Fibrosis

At the age of 11, Madi Vanstone faced a critical turning point in her life when she discovered a life-changing medication for her rare form of cystic fibrosis. However, this medication came with a staggering price tag of $350,000, which was not fully covered by insurance or the Ontario government. Madi’s condition, a genetic disorder that affects the digestive system and lungs, led to frequent lung infections, digestive issues, and a steady decline in her lung function. By the time she was diagnosed, doctors predicted she would likely need a lung transplant by the age of 16. Despite the challenges, a new drug emerged when Madi was 11, which drastically improved her condition and eliminated the need for a transplant. However, the cost of this drug posed a significant burden on her family, highlighting the harsh realities of accessing life-saving treatments for rare diseases.

The Battle for Coverage: A Family’s Fight for Survival

Madi’s family faced an uphill battle to secure funding for her medication. While they received temporary partial coverage from insurance and a discount from the drug manufacturer, they were still left with an out-of-pocket expense of around $100,000 annually. With no support from the provincial government, the community stepped in to help. Beth Vanstone, Madi’s mother, recalled the exhausting efforts to fundraise, often attending two events a weekend. “Our community fundraised to keep her on the drug for two years,” she said. “It was basically to keep her alive until it was finally funded.” After two years of relentless advocacy, the Ontario government approved the treatment under the Ontario Drug Benefit program. However, this victory was short-lived, as the family found themselves repeating the same battle when a newer, improved version of the drug became available.

The Frustration and Resilience: A Never-Ending Fight

For Madi and her family, the fight for access to life-saving treatments has become a recurring theme. “It’s pretty much been the same battle with every single treatment that’s come out,” Madi shared. The frustration of navigating a system that often fails to prioritize rare diseases has been overwhelming, yet it has also fueled her determination to keep fighting. Without the unwavering support of their community, Madi and Beth acknowledge that the outcome could have been dire. “It’s not like Aspirin or Tylenol where there’s another brand on the shelf. These therapies are lifelines for patients, and we need to ensure they have access to them,” Beth emphasized. The Vanstones’ experience underscores the broader challenges faced by individuals with rare diseases in Canada, where accessing necessary treatments often feels like a lottery.

Rare Diseases in Canada: A System in Need of Change

Madi’s story is not an isolated case. According to the Canadian Organization for Rare Disorders (CORD), approximately one in 12 Canadians lives with a rare disease. Yet, only 60% of treatments for rare disorders make it into the country, and the approval process can take up to six years longer than in the United States and Europe. This delay means many patients, including children, may lose their lives before lifesaving treatments become available. CORD estimates that 25% of children with rare diseases die before the age of 10. The organization is advocating for a national rare disease strategy to improve early diagnosis, streamline drug approval processes, and ensure equitable access to treatments. For Madi, who is now part of the “I Am Number 12” campaign, raising awareness about these issues is deeply personal. “I hope that when there’s a cure one day, I won’t have to fight to get it,” she said.

The Role of Government and Advocacy in Rare Disease Access

In response to criticism, the Ontario Ministry of Health maintains that it has an evidence-based process for reviewing and funding drug requests, including those for rare diseases. The ministry acknowledges the unique challenges faced by patients with rare conditions and their families, stating that it is working with Health Canada and other stakeholders to improve access to rare disease therapies. However, for families like the Vanstones, such statements often feel disconnected from the reality of their experiences. Madi and Beth continue to advocate for systemic change, emphasizing that no one should have to fight so hard for medications that are essential to survival. Their story serves as a reminder that ensuring access to life-saving treatments is not just a medical issue but a matter of human rights.

Looking Ahead: Hope and Advocacy for a Better Future

Madi Vanstone’s journey is a testament to resilience and the power of community. At 23, she continues to fight not just for her own access to treatments but for all those affected by rare diseases. Through her involvement in the “I Am Number 12” campaign, she hopes to shed light on the struggles faced by millions across Canada. While the current system remains flawed, stories like Madi’s remind us of the importance of advocacy and the need for a more compassionate and equitable approach to healthcare. As Madi looks to the future, she holds onto hope—hope for a cure for cystic fibrosis and hope that one day, no one will have to endure the same battles she faced to stay alive.