Julia Alton, Executive Director at the Canadian Fabry Association, discusses the poster presented at WORLDSymposium 2024, “Exploring the experience of females living with Fabry disease in North America.”
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
Additionally, internal organs, such as the kidney, heart or brain, may 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.
The Canadian Fabry Association empowers patients through education and raising awareness. In their most recent study, researchers found distinguishable differences between female experiences with Fabry disease and those of males.
Ms. Alton stresses the importance of females advocating for themselves in medical settings and starting the right conversations with physicians. By putting their health needs first, patients can improve the quality of their daily lives as well.
For more information visit, https://www.fabrycanada.com/
To learn more about Fabry disease and other rare genetic disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
