Learn more about discussing Fabry disease with your care team
Doctor Dialogue Guide
Download this resource to help start conversations with your Fabry care team. It can help you:
- Understand the risks of disease progression
- Set up your care team of core doctors and an extended team of specialists, who can help with more specific issues
- Learn how to take the lead in controlling your health
Symptom and disease tracking tools
Daily Symptom Tracker Checklist
Daily Symptom Tracker Checklist
This symptom tracker checklist can help you stay on top of your daily symptoms. It lists specific symptoms you may experience, organized by where they occur in your body. There's also a place to note any additional symptoms you may be experiencing.
Annual Monitoring Guide
Rethinking Fabry video series
Past Fabry disease webinars
Patient advocacy group links
You are not alone
While at times it might feel lonely to have Fabry disease or to be a caregiver for someone with Fabry disease, many people understand what you're going through.
Organizations like the National Fabry Disease Foundation (NFDF) and the Fabry Support and Information Group (FSIG) can help you connect with other people with Fabry disease and caregivers through meetings, conferences, and other in-person and virtual events.
Other support organizations
The Fabry International Network (FIN)
National Organization for Rare Disorders (NORD)
You can also look for Fabry disease research and clinical trials at the US clinical trials registry site at www.clinicaltrials.gov. Search for “Fabry disease.”
Frequently asked questions
Q: What is Fabry disease?
A: Fabry disease is an inherited condition. It can affect different people in different ways, but it all starts with one thing: an enzyme.
How the lack of one enzyme can lead to many issues
We all have enzymes inside our bodies to help our cells work.
When someone has Fabry disease, their body can't produce enough working copies of an enzyme called alpha-Gal A.
Normally, alpha-Gal A breaks down a type of fat that provides energy to the body. But without alpha-Gal A doing its job, this fat can build up and damage cells throughout the body.
Damaged cells lead to the signs and symptoms of Fabry disease.
Q: Does Fabry disease run in families?
A: Yes, Fabry is a genetic disease that is passed from parent to child. So when someone is diagnosed with Fabry disease, it’s important for relatives who are blood-related to get tested. Read more.
Q: What does Fabry disease look like at diagnosis—and how can it change?
A: Fabry disease can affect different people in different ways. For some, it may start with kidney issues. For others, changes in their heart rhythm will be the first indication of Fabry disease. But, it’s always a progressive disease. Fabry disease will not go away on its own, and you will likely experience more symptoms over time. Read more about Fabry disease symptoms, how to track them, and disease progression.
Q: Can treatment help a progressive disease?
A: Yes. While there is no cure for Fabry disease, starting treatment early may slow it down.
Q: Can Fabry disease affect women?
A: Yes. Fabry disease can also significantly affect women, with some women experiencing disease severity that's very similar to its impact on men. Read more.
Q: Can both men and women pass Fabry disease on to their children?
A: Yes. Fabry disease is passed down by both men and women on the X chromosome. Women with Fabry disease normally have a 50% chance of passing the gene to their child regardless of its gender. Men cannot pass the gene on to their sons, but they pass Fabry disease to all of their daughters. Work with a genetic counselor to learn about how Fabry disease can be passed on. Read more.
Q: Why is genetic screening for Fabry disease so important?
A: Identifying people with Fabry disease can help more people get ahead of the progression of the disease. A study found that once a person is diagnosed with Fabry disease, genetic testing can identify 5 or more family members who also have it. Read more.
Q: Who can be a part of your care team to help you manage your Fabry disease?
A: Many different types of doctors may contribute to your care. Read more.
- Primary care doctor: Monitors your overall health. If you aren't sure which specialist to talk to, your primary care doctor will be able to help
- Geneticist: Tests whether you or your family members have inherited the disease. They can help counsel you and your family on how to manage this information
- Neurologist: Keeps track of your pain, sweating, and other symptoms related to your nervous system
- Nephrologist: Sees how well your kidneys are working and measures levels of protein and vitamins in your urine and blood
- Cardiologist: Monitors your blood pressure and any irregularities in your heart
- Gastroenterologist: Checks for possible damage to your gastrointestinal (GI) system
- Other specialists: Depending on your signs and symptoms and overall health, additional healthcare professionals may be included on your care team
STAY INFORMED ABOUT FABRY DISEASE