Understanding Fabry Disease and Finding Support
Living with a chronic health condition can be challenging, especially when it’s rare, like Fabry disease. Affecting up to 1 in 40,000 people, the disease’s rarity means there is less information about it than other diseases, translating to fewer resources, clinical trials, and treatment options. However, support systems are available that can offer holistic disease management support throughout the healthcare journey.
Fabry is a rare inherited disorder caused by genetic mutations that results from the buildup of a particular type of fat (globotriaosylceramide) in the body’s cells. The disease can affect men and women and typically shows signs in childhood. It belongs to a group of lysosomal storage disorders and symptoms may include kidney insufficiency and failure, heart disease, reduced appetite and stroke.
Signs and symptoms can vary but common characteristics may include:
- Episodes of pain in hands and feet
- Clusters of small, dark red spots on the skin
- Decreased ability to sweat
- Cloudiness or streaks in the front part of the eye
- Gastrointestinal system problems
- Ringing in the ears
- Hearing loss
Currently, there is no cure for Fabry disease, but there are effective ways to treat it. One way is with enzyme replacement therapy that aims to reduce Gb3 lipids in the tissue throughout the body. However, this treatment requires frequent infusions, sometimes as often as every two weeks. Infusions should continue throughout a person’s lifetime for adequate pain and symptom management. Additional treatments, in the form of gene therapy, are becoming a promising treatment option and are seeing more clinical trial approvals.
Support organizations play a crucial role in helping individuals with Fabry disease, such as the Fabry Support & Information Group (FSIG) and National Fabry Disease Foundation (NFDF). Founded in 1996 by two Fabry patients and a supportive family member, FSIG strives to share insights and experiences about Fabry disease. Their annual educational conference, the FSIG Expert Fabry Conference serves as an opportunity to share valuable, up-to-date information about Fabry disease with patients, their families, and clinicians.
NFDF is an organization dedicated to supporting the Fabry disease community through Fabry disease education, facilitating Fabry disease identification to improve Fabry disease recognition and diagnosis, providing various forms of assistance to individuals with Fabry disease, supporting Fabry disease research and promoting advocacy for Fabry disease issues. Their annual family education conference is one of many Fabry education programs NFDF offers. The National Fabry Disease Foundation’s 14th annual Fabry Family Education Conference will be held on October 17-18, 2024, in Greensboro, NC.
Accessia Health Programs
At Accessia Health, we consider it an honor to offer support to individuals living with Fabry disease. Recognizing the financial challenges some patients face, we actively contribute to making treatments more accessible. An Accessia Health patient recently shared her experience with bi-weekly infusions, saying, “the associated costs were astronomical. That’s when I sought assistance through Accessia Health. I would be making payments that would never allow me to save a penny if it wasn’t for them and I can’t express how significant their help has been.”
Our holistic, inclusive, outcomes-focused approach offers comprehensive support. Through our Fabry patient program, we provide case management, education, and financial support for health insurance premiums, medication copayments, travel, and other essential medical expenses.
Individuals can apply for assistance by visiting our patient programs page. If a program is full, a waitlist option is available.