Photo/photo credit: Ryan Deveau, pictured with his family, was diagnosed with Fabry disease as a young child.
By Allison Currie
For more than 270 years, the story of Fabry disease in Nova Scotia has unfolded, from the founding of Lunenburg to the patients and researchers working together today to better understand the condition.
In 1750, a woman named Anna Catherina Barbara Loye arrived in Halifax, before settling in Lunenburg the following year as one of the town’s founding families. Over the generations, her and her descendants carried a rare inherited condition now known as Fabry disease.
Today, researchers can trace the disease through 17 generations of her family, with an estimated 3,200 descendants spread across Nova Scotia, Canada, and the United States. Nova Scotia is now believed to have one of the highest concentrations of Fabry disease in the world.
Fabry disease is a rare inherited metabolic disorder that prevents the body from properly breaking down a fatty substance, which builds up in cells and organs over time.
Symptoms may begin in childhood and can include episodes of severe burning pain in the hands and feet, reduced sweating, red skin spots, gastrointestinal pain and diarrhea. Without treatment, the disease can significantly shorten life expectancy due to stroke, kidney failure and heart disease.
The disease affects men more severely, but women, once thought to be only carriers of the disease, can also experience a wide range of symptoms. And because symptoms in women can be variable and sometimes appear later in life, diagnosis is often delayed or overlooked.
Much of what is now understood about Fabry disease in Nova Scotia has been shaped by the research and attention of Dr. Michael West, a kidney specialist who spent more than four decades caring for patients and supporting research.
Dr. West didn’t originally specifically focus on the disease, but as he began to see more patients, and the need for specialization in care grew, so did the Fabry clinic at the QEII Health Sciences Centre.
“As we identified more patients across the Atlantic Provinces, it became evident there was an important opportunity not only to improve care, but also to better understand how Fabry disease presents within different patients,” says Dr. West
Dr. West now treats approximately 120 patients through his clinic serving Nova Scotia, New Brunswick, and Prince Edward Island. His research into Fabry disease began in the early 2000s, and he’s collaborated with clinicians and researchers around the world working to better understand the condition.
One of those patients is Ryan Deveau, 45, who has been treated by Dr. West for over twenty years. Although Ryan was diagnosed with Fabry disease when he was two, he experienced little to no symptoms early on. Unfortunately, there was also no treatment available in his younger years.
As Ryan got older and experienced increased symptoms, treatment options had become available. He tried several medications, including enzyme replacement therapy, which has become the primary lifelong treatment for Fabry disease. Typically administered intravenously at home every two weeks, each treatment can take several hours.
Throughout this time, Ryan was committed to participating in research aimed at improving treatment options — not only for future patients, but for his own quality of life as well — pausing only during the years he and his wife were focused on starting a family.
Between 2016 and 2018, he became one of just five men to take part in a Canadian gene therapy study that used bone marrow stem cells to deliver a healthy replacement copy of the faulty gene responsible for Fabry disease.
Following this therapy, Ryan was able to go for two and a half years without requiring biweekly infusions — a change that allowed for greater freedom in daily life and fewer ongoing treatments.
Although he has since resumed enzyme replacement therapy, he says he still feels better than he ever has in the past, something he credits in part to the trial.
“In a rare disease like Fabry, if no one participates in trials, nothing new can be created,” says Ryan. “There are no new treatments without people willing to ask questions and make informed decisions about research. Because of research, we went from having no treatments to having real options.”
Thanks to medical research, and to the patients willing to participate in it, there are now multiple treatment options available for Fabry disease, including several enzyme replacement therapies, an oral chaperone drug therapy and additional treatments currently under development.
Because Fabry disease intersects with areas such as cardiovascular health, stroke prevention, and gastrointestinal care, advances in those fields can also create new possibilities for Fabry patients.
Dr. West and his team also created and manage the country’s largest independent national Fabry disease registry. Since 2006, the registry has collected extensive data on diagnosis, treatment, symptoms, and long-term outcomes from almost 800 patients.
Dr. Ashley Hilchie, Senior Director of Research at Nova Scotia Health, says the combination of Dr. West’s decades of clinical research and patients like Ryan choosing to participate in studies is the kind of teamwork that drives progress in care for everyone.
“The evolution of the treatment of Fabry disease in Nova Scotia shows what’s possible when patients, clinicians, and researchers work together over generations,” says Dr. Hilchie. “In just a few decades, we’ve gone from supportive care only to multiple treatment options, with more therapies on the horizon. Research doesn’t just deepen our understanding of disease, it changes lives.”
The collaboration between patients, clinicians, and researchers has significantly advanced understanding of Fabry disease in Nova Scotia but continued data collection, clinical research, and treatment development remain central to improving long-term outcomes for patients.
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Health research and clinical trials rely on the participation of volunteers. Nova Scotia’s research consent framework helps connect people with future research opportunities and supports more choice in how Nova Scotians participate in research.
Research helps advance new discoveries, improve care, and shape the future of healthcare.
Learn about research opportunities through NovaStudies Connect and make your research participation choices through the MSI Online portal.
