Executive Director, Canadian Fabry Association
Fabry disease is a rare genetic disease that affects many parts of the body, and timely diagnosis is key to preventing organ damage.
When a condition is uncommon, it can be hard to recognize. But when it comes to rare diseases, including Fabry disease — a disorder affecting around 600 people in Canada — early diagnosis is critical. As such, knowing what to watch for is important.
The symptoms of Fabry disease can seem disconnected and unexplained: headaches or vertigo, pain or tingling in the hands or feet, tinnitus or hearing loss, gastrointestinal upset, and spotted rash. A young, undiagnosed patient like Amanda might experience burning and tingling pain in their extremities, especially after exercise or notice clusters of small reddish-purple bumps on their body. Without testing for Fabry disease, visits to dermatologists, rheumatologists, and neurologists may prove inconclusive.
Recognizing hallmark signs of Fabry disease
Fabry disease is a lysosomal storage disorder that interferes with the body’s ability to break down specific fatty substances. As they start to accumulate, they affect several major organs of the body, including the brain, kidneys, and heart, along with the nervous system, skin, and inner ear.
“The hallmark signs of Fabry disease are overheating, lack of sweat, exercise intolerance, and pain — a numbing or burning, or pins and needles — in the hands and feet,” says Julia Alton, Executive Director of the Canadian Fabry Association. These seemingly unconnected symptoms can be hard to recognize. Patients like Amanda may not get answers until well into adulthood, perhaps when they notice something similar going on with a parent and ask their doctor for a genetic test.
Ensuring early diagnosis and finding support
Fabry disease is diagnosed via a simple blood test, and although it’s genetic, it’s not always inherited through family history — spontaneous genetic mutations can occur. “It’s important to get tested because if you know you have Fabry disease from a young age, there are things we can do about it,” says Alton. Left untreated, Fabry disease can damage patients’ blood vessels and lead to life-threatening problems such as heart conditions, kidney failure, nerve damage, and strokes. “The earlier you know, the better,” says Alton. “Fabry disease is a progressive disease, so early diagnosis results in better management of the disease course.” That’s why it’s essential to know Fabry’s signs and symptoms and to speak to your doctor if you notice any of the tell-tale signs.
The Canadian Fabry Association is dedicated to inspiring and supporting people affected by Fabry disease to live well. This commitment includes building a strong and supportive community, providing education, and raising awareness about this life-altering disease.
“With Fabry disease, there can be a lot of hopelessness, chronic pain, depression, and this feeling of the unknown,” says Alton. “At the Canadian Fabry Association, we want to make sure there’s support.”
This article was sponsored by a leading research-based pharmaceutical company.