Julia Alton, Executive Director at the Canadian Fabry Association, discusses the organization’s mission and their initiatives.
Fabry disease is a lysosomal storage disease characterized by insufficient alpha-galactosidase (alpha-GAL). The deficiency of Alpha-GAL results in the accumulation of globotriaosylceramide (GL3), causing lysosomes to work improperly. Symptoms of Fabry disease may include:
- Episodes of pain, especially in the hands and feet
- clusters of small, dark red spots on the skin called angiokeratomas
- decreased ability to sweat (hypohidrosis)
- cloudiness of the front part of the eye (corneal opacity)
- hearing loss
Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys.
As Ms. Alton explains, the number one priority of the Canadian Fabry Association is education. Through patient membership, the company provides resources for patients, tailored to help better their everyday lives. A strong emphasis is also placed on bridging the gap between physicians and patients who may not have ease of access.
In addition to an annual national meeting, the Canadian Fabry Association holds Patient Empowerment meetings throughout the year. These programs travel throughout Canada, reaching a larger audience of patients, to provide support and information.
At WORLDSymposium 2024, the Canadian Fabry Association presented a poster highlighting Fabry disease in females. The research aimed to discover the unmet needs of female patients and how female experiences may differ from males.
For more information on upcoming Patient Empowerment meetings, visit https://www.fabrycanada.com/
For more information on Fabry disease and other rare lysosomal disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/