From early childhood, Ryan Deveau suffered from chronic pain in his hands and feet and an inability to sweat that left him prone to overheating quickly, especially in the summer or during physical activity.
“I couldn’t go outside very much,” says the Dartmouth, NS native. “My main interests ended up being things like computers and video games. I tried some sports, but I just couldn’t enjoy them because of the overheating and the intense pain in my hands and feet.”
These symptoms were all connected to a rare genetic condition known as Fabry disease, which not only causes the sort of discomforting symptoms he experienced as a child but also leads to organ damage and a shortened life expectancy.
Ryan was aware that he was different than most of his friends, but he didn’t know the specifics. “My parents knew that my younger brother Jason and I both had Fabry disease,” says Ryan. “They told me some things about it when I was in elementary school, but they avoided the nitty-gritty medical details that would scare a kid.”
As he got older, Ryan’s symptoms worsened and expanded to gastrointestinal issues. Eventually, his parents knew they needed to give him the full story. “When I was around 12 years old, they sat me down and laid it all out,” Ryan says. “That’s about the age where Fabry symptoms really start to seriously affect your day-to-day life. Once I knew all the details, though, I basically just shut down. I didn’t tell anyone outside my family, including my best friends who I practically consider brothers to this day, until I was 25.”
A rare love story
In the summer of 2005, at the age of 25, Ryan met Stéphanie, the woman who would become his wife. After that, everything started to change. “I knew that I had to tell her about my diagnosis, and I was completely comfortable talking to her about it,” he says. “That sort of opened the floodgates to telling other people outside of my family.”
Shortly thereafter, another change in Ryan’s life made facing his disease head-on even more essential. “In 2007, I went in for my regular 6-month Fabry check-up with my nephrologist, and they found that my heart was slightly enlarged and my kidney function was lowered,” he says. “For the first time in my life, I was seeing the organ damage aspect of Fabry. That’s when it truly became real.”
Fortunately, treatment for Fabry in the form of enzyme replacement therapy (ERT), had since been developed. “I knew that ERT was available and that I qualified,” Ryan says. “I wanted to discuss with Stéphanie, but she just said, ‘There’s nothing to talk about. You’re doing it.’ She was there to help me from the very beginning. She did way more research than I had ever done myself. Between 2005 and 2007, Stéphanie basically became an expert on the disease.”
Ryan and Stéphanie were married in the summer of 2011 and now have two sons, Maxime (aged five and a half) and Cédric (who is nearly two). Because Fabry is linked to the X chromosome, Ryan and Stéphanie knew in great detail the chances of their children having the condition.
Innovation on the horizon
“We’ve come so far in the last 20 years and I’m very hopeful about what’s coming next,” Ryan says. “There’s a lot of innovation on the horizon: new forms of ERT, oral agents, and gene therapy. The next generation will not only have a treatment, they’ll be able to choose the treatment best suited to them. The future for Fabry patients is looking very good.”
Despite all these advances in treatment, however, not everyone is getting access to them. “Even though things are looking really good for diagnosed patients,” Ryan says, “many go undiagnosed or misdiagnosed for years because this is such a rare disease. It’s not uncommon for people to go undiagnosed until they start to experience organ failure.”
Increased awareness and advocacy for rare diseases like Fabry can mean earlier diagnosis, and earlier treatment. Ryan, who at 37 has a successful career at a major telecommunications firm in Halifax, can enjoy the prospect of a long and healthy life. This may mean more hours of joy and time spent with family, rather than hours of pain and discomfort.
“It’s amazing how much joy I take these days in the simple things that most people can easily do,” Ryan says. “It sounds silly, but it makes me so happy to be able to mow my own lawn without being in pain.”
Ryan and Stéphanie now urge others to embrace a rare disease diagnosis, never losing sight of what is most important to them. “The biggest thing for us is the kids,” he adds.
If you or someone you know is experiencing a symptom that may be associated with Fabry, talk to your doctor. Additionally, the Canadian Fabry Association is dedicated to supporting the Fabry community in Canada. Please visit www.fabrycanada.com to find support, ask questions, and learn more about our “Be Rare. Be You.” initiative.
A community-based initiative supported by Sanofi Genzyme.