Most people have heard the term “rare disease,” but far fewer can name a rare disease let alone imagine what life might be like for those who have one. When it comes to some patients who experience poor kidney function, there may be an underlying genetic cause—Fabry disease.
Fabry Disease is a deficiency of an enzyme called alpha-galactosidase A. It affects many parts of the body including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system. Fabry disease affects 1 in 117,000 people.
What’s truly rare is the kind of public awareness and understanding that people with Fabry disease deserve.
Typically chronic and debilitating, rare diseases have enormous repercussions for the whole family. Living with a rare disease becomes a daily learning experience for patients and families. Though they have different names and different symptoms, rare diseases impact the daily lives of patients and families in similar ways.
- How to find a diagnosis?
- How to access treatments?
- How to find appropriate expertise?
- How to work with a team of caregivers, such as doctors or physical therapists, and other healthcare professionals and coordinate care between them?
- How to administer treatments?
- How to manage the economic burden of living with a rare disease?
- How to ensure the well-being of the entire family and balance priorities?
For those living with rare disease like Fabry disease, navigating a diagnosis can be tricky due to lack of research and reliable treatment. Often, rare diseases stump even the most knowledgeable doctors, with experts on rare diseases few and far between — if they exist at all.
In the midst of this often overwhelming reality, the need for advocacy and support is essential.
This article provides an overview of Fabry disease and explains the causes, symptoms, diagnosis, and challenges of those who live with it.
It just may be the resource you’re looking for.