Changing how we think about Fabry disease

Watch the Video: Understanding “mild” Fabry disease

There are many common questions and misconceptions about Fabry disease and what it means to have “mild” Fabry disease. This video will help you understand:

What “mild” Fabry disease means
What complications can arise later

“When I was finally diagnosed, I was relieved—it was a tremendous relief. I cried. The patient advocate said, ‘You must have thought you were crazy all these years.’ It was a tremendous relief to say it wasn’t me, I wasn’t making this up, I wasn’t pretending.”

–Woman living with Fabry

Women living with Fabry disease take a much different journey

We no longer think women are only carriers of Fabry disease, passing it down to their children without experiencing its effects themselves. We now know that as many as 80% of women living with Fabry may experience symptoms.

Women living with Fabry experience more of the following symptoms compared with other women:

Abdominal pain
Diarrhea
Constipation
Joint pain

Pain in hands and feet
Dizziness
Fatigue

“I was 35-ish when I had proteinuria. I got a biopsy in my late 40s, but we didn’t connect anything with family for a while. The nephrologist was unfamiliar that (Fabry disease) could manifest in women.”

–Woman living with Fabry

Women experience initial symptoms later than men. Symptoms usually show up in women at around age 13. Men start experiencing symptoms around age 9.

Women are diagnosed around 20 years later than men on average. It typically takes longer for women to receive a diagnosis compared with men, as they often experience multiple misdiagnoses first.

“For boys, it’s Fabry–period. For girls, it’s Fabry–question mark.”

–Christy, currently living with Fabry

Pregnancy is a consideration in Fabry. Pregnant women and their partners should consider talking with a genetic counselor about when to test for Fabry before birth. Learn about support through Fabry patient advocacy groups.

Watch Mandie’s story about early testing and raising children with Fabry

Speaking up for yourself is an important part of managing Fabry disease

You may have felt at times that a doctor didn’t fully understand your questions or concerns. It’s important to speak up and self-advocate so you can feel that you’re being heard. Be proactive about your condition, symptoms, and long-term health by becoming your own advocate. Get started by preparing for doctor appointments.

Use your Fabry care team’s expertise to your advantage

While one doctor usually oversees managing your Fabry, you’ll likely see many doctors throughout the treatment journey. Each medical specialist on your Fabry care team works with you to track and monitor your disease progression to help you receive the best care possible, so it’s important to share test results and reports from all medical visits. Your Fabry care team may consist of the following specialists:

Ask your care team about the specialists you may need to talk with as you manage your Fabry.

You can also learn more by clicking on the links below.

Cardiology

AHA: American Heart Association

Nephrology

AAKP: American Association of Kidney Patients

Neurology

NIH: National Institute of Neurological Disorders and Stroke

Gastroenterology

AGA: American Gastroenterological Association GI Patient Center

Genetics

ACMG: American College of Medical Genetics

Primary care

NORD: National Organization for Rare Diseases

Ophthalmology

AAO: American Academy of Ophthalmology

Cardiology

Nephrology

Neurology

Gastroenterology

Genetics

Primary care

Ophthalmology

Ask your care team about the specialists you may need to talk with as you manage your Fabry. You can also learn more by clicking on the links below.

Living with Fabry isn’t just about physical symptoms. It can also impact your mental health and well-being.

SEE HOW TO HELP MANAGE MENTAL HEALTH

Follow Rethink Fabry HERoes and find support through other women living with Fabry disease

Who in your family could have Fabry?

Women with Fabry normally have a 50% chance of passing the gene on to their children, regardless of their children’s gender. Men pass the gene for Fabry on to all of their daughters, but they cannot pass the gene on to their sons.

If you’ve been diagnosed with Fabry, it’s more than likely that other members of your family have the disease. That’s why it’s essential to work with a genetic counselor to identify others in your immediate and extended family who should be told they may carry the gene.

Remember: The earlier someone is diagnosed with Fabry, the sooner they can get ahead of their disease. You can help your family get tested.

Family tree showing genetic inheritance pattern of Fabry disease

*In this scenario, the mother has a single affected X chromosome with Fabry disease, and it is assumed that none of her offsprings’ partners are affected.

One study found that once a person is diagnosed with Fabry, genetic testing may identify 5 or more family members who also have it.

How to know if your family members have Fabry disease

Through proper and early diagnosis, the goal is to get more people ahead of the disease’s progression.For more information on how Fabry can affect your family, watch this webinar video.

Watch Lori’s story about families and Fabry disease

How to start the conversation about genetic testing with your family

You don’t have to take on the conversation alone. Invite your relatives to speak with members of your Fabry care team—or to join organizations like the National Fabry Disease Foundation (NFDF) and the Fabry Support & Information Group (FSIG). This can help your relatives feel more comfortable with getting genetic testing done.

Start by talking with your primary care doctor. They can help your family members understand more about Fabry disease and put them in touch with a geneticist or genetic counselor if they need one.

Reach out to a genetic counselor. Based on your family history, they will be able to give your loved ones the information they need to make an informed decision about testing.

Fabry disease can impact families in many ways. By encouraging your relatives to get tested as soon as possible, you can help ensure they get the care they need to help get ahead of the disease’s progression.

TAKE ACTION TO MAKE A CHANGE

CHANGING HOW WE THINK ABOUT FABRY DISEASE