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Patient Handbook

Patient Handbook

This printed resource can help you have productive doctor appointments and informative conversations with your care team, keep track of disease progression over time, record your test results, and understand how Fabry may impact you and your family. Keep it with you throughout your treatment and monitoring journey!


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

Annual Monitoring Guide

This tool will help you monitor your test results to help you and your care team stay on top of your disease progression.


Rethinking Fabry video series


Rethinking Fabry: “Mild” Disease


Rethinking Fabry: Curating Your Care Team


Rethinking Fabry: Strategies for Staying Vigilant

Past Fabry disease webinars


Living with Fabry: The Women's View


Know Fabry, Know Surprises


Understanding the Hidden Impact of Fabry Disease


Fabry is Forever: Break Through the Silence


Living with Fabry: A Holistic Approach

Rethinking Fabry Patient Stories: Get Inspired

Now Playing Watch

Rethink Fabry:

Maurice, encouragement

living with Fabry

Now Playing Watch

Rethink Fabry:

Mandie, wife, mother, 

poet, artist living 

with Fabry

Now Playing Watch

Rethink Fabry:

Lori, an inspiration

living with Fabry

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 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

Alpha-Gal A and fat inside a cell

We all have enzymes inside our bodies to help our cells work.

Alpha-Gal A

When someone has Fabry disease, their body can't produce enough working copies of an enzyme called alpha-Gal A.

Healthy cell with alpha-Gal A, and Fabry cell without 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.

Painful-looking kidneys, brain, and heart

Damaged cells lead to the signs and symptoms of Fabry disease.

alpha-Gal A, alpha-galactosidase A.

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