Patients & Caregivers | Go to Healthcare Professionals Site

Your Fabry may not be as controlled as you think

You may be used to some Fabry symptoms from when you were a child. Maybe some of those symptoms are the same now, some have gotten better with treatment, and others are worse.

However, even if you feel like you are managing your symptoms well, there are still many daily and long-term challenges with Fabry.

You can still experience symptoms of Fabry disease even when it's considered under control

Daily life

Burning or prickling sensation in the hands and feet, problems with sweating, trouble tolerating heat or cold, stroke-related symptoms

Abdominal pain, bloating, gassiness, indigestion, nausea

Feeling tired or drained from normal daily activities or from lack of quality sleep. Ongoing pain, inflammation, and depression can also leave you feeling worn out

Long-term challenges

Kidney damage and advanced kidney disease, protein in urine (which can also cause your urine to appear frothy or bubbly-looking) 

Fast-beating, fluttering, or pounding heartbeat; chest pain; high blood pressure

Mental health concerns, such as feelings of depression or anxiety

What you can do

If you have started experiencing one or more of these signs and symptoms for the first time, or an increased frequency or intensity of symptoms, tell your doctor right away. Download a Symptom Tracker to help you remember how you felt. Your doctor may be able to suggest strategies to help manage your Fabry disease.

Fabry is a progressive disease, meaning that it gets worse over time. No matter what your Fabry disease looks like at first, it won’t go away on its own and you’ll likely experience more symptoms over time. You can monitor your results with the Annual Monitoring Guide.

For advice on deciding which doctor to talk to, or what to ask, download our Doctor Dialogue Guide today

Fabry can affect your mental health

Living with Fabry isn't just about physical symptoms. It can also negatively impact your mental well-being:

  • Emotionally: knowing you have a genetic disease that can be passed on to a child may make you feel guilty and anxious (read more about Fabry disease and families)
  • Socially: having a chronic, progressive condition may leave you feeling alone

Talk to your doctor

If you're concerned about your mental well-being, talk to your primary care doctor. They’ll tell you about potential treatment options for anxiety and depression. Also, having an open and honest conversation with a loved one can help.

Why early diagnosis matters

While there is no cure for Fabry disease, early diagnosis and starting treatment early may slow it down. Recently, an expert panel of Fabry specialists developed a set of treatment recommendations:

Adolescent boys with Fabry disease should begin treatment before they reach adulthood, even if they have no symptoms

Anyone diagnosed with Fabry disease as an adult should begin treatment as early as possible—especially men—regardless of Fabry symptoms

Early diagnosis and treatment can increase your chances for better outcomes—and may help slow down this progressive disease.

Webinar Video: Managing the challenges of Fabry disease

As someone with Fabry disease, you may think that you are okay when you are not. Being aware of what may or may not happen is central to how to live with Fabry. This webinar video will help you:

  • Understand some of the common symptoms and learn strategies to manage them
  • Review the possible challenges you may encounter
  • Empower you to become your own advocate with your healthcare team