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Fabry is a progressive disease, meaning that it can become more severe over time. No matter what your Fabry disease looks like initially, it won’t go away on its own and you’ll likely experience more symptoms over time. Monitor your results with the Annual Fabry Monitoring Guide.
Fabry disease can cause challenges even when it’s considered under control
You may be very familiar with certain 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 Fabry disease, there are still many signs and symptoms that are important to monitor and inform your Fabry care team about.
Fatigue
- Feeling tired or drained
- Ongoing pain, inflammation,and depression can also leaveyou feeling worn out
Gastrointestinal
- Nausea, vomiting, cramping, diarrhea, or constipation
- Pain or bloating after eating
Nervous System
- Burning or prickling sensation in the hands and feet, trouble tolerating heat or cold, dizziness, vertigo, hearing loss, skin lesions, or the inability to sweat
- People living with Fabry disease may experience severe to agonizing pain that can last for weeks at a time
Brain
- Depression
- Anxiety
- Panic attacks
- Brain fog
Heart
- Irregular heartbeat (fast-beating, fluttering, or pounding heartbeat)
- Shortness of breath
- Chest pain
Kidneys
- More frequent, urgent urination
- Foamy appearance of urine
- Blood in the urine
- Swelling in the hands and/or feet
- Muscle cramps
- Depression
- Anxiety
- Panic attacks
- Brain fog
- Irregular heartbeat (fast-beating, fluttering, or pounding heartbeat)
- Shortness of breath
- Chest pain
- Nausea, vomiting, cramping, diarrhea, or constipation
- Pain or bloating after eating
- More frequent, urgent urination
- Foamy appearance of urine
- Blood in the urine
- Swelling in the hands and/or feet
- Muscle cramps
- Feeling tired or drained
- Ongoing pain, inflammation, and depression can also leave you feeling worn out
- Burning or prickling sensation in the hands and feet, trouble tolerating heat or cold, dizziness, vertigo, hearing loss, skin lesions, or the inability to sweat
- People living with Fabry disease may experience severe to agonizing pain that can last for weeks at a time
Keeping track of symptoms
If you’ve started experiencing one or more of these signs and symptoms for the first time, or an increased frequency or intensity of symptoms, be sure to share this with your doctor. Your doctor can suggest strategies to help manage your Fabry disease. Download the Daily Fabry Symptom Tracker Checklist to help you remember how you felt.
For advice on deciding which doctor to talk to, download the Fabry Doctor Dialogue Guide today.
Fabry disease can affect your mental health
Living with Fabry isn’t just about physical symptoms. It can also have a negative impact on your mental health and well-being. The impact may include:
- An increased risk of developing anxiety, depression, and panic attacks
- Feeling isolated or lonely
- An effect on friendships and relationships–even as early as childhood or teen years
- Guilt about having a progressive genetic disease that can be passed on to a child
Watch Maurice’s story about the many day-to-day challenges when living with Fabry disease
Understanding the emotional stages of dealing with a chronic disease can help you improve your mental health and well-being
Coping with the diagnosis of a chronic illness can be an enormous challenge. Learning about and accepting this new reality can help you improve your mental and physical well-being. Here’s a look at the 5 common stages people with Fabry may experience when dealing with something as life-changing as Fabry:
- Denial: News like this can be hard to believe at first. Understanding more about Fabry is an important first step.
- Anger: It’s natural to be angry. Finding a way to acknowledge your anger and let go of that anger can help you move to a more peaceful place where you can move forward with your plan.
- Bargaining: It’s natural to ask if there was a mistake or if there are alternative ways to manage your condition. That’s why it’s important to make a plan with a healthcare team and gather resources to help.
- Depression: Depression can accompany chronic pain and chronic illness. Your experiences are valid, and there are resources to help you get through it.
- Acceptance: When you accept that you have Fabry, you can take away its ability to control your life–to define you. It puts you on a path to trusting and following your treatment plan and living your life on your own terms.
Talk to your doctor about Fabry disease
If you’re concerned about your mental well-being, be sure to talk to your Fabry care team. They can help refer you to a specialist so you can learn about different options for managing anxiety and depression. And, be sure to have open, honest conversations with loved ones so they can be supportive.
How to get the help you need
It can be hard to know where to start when dealing with anxiety or depression. Here are some key steps you can take to help address your mental health concerns:
It can be hard to know where to start when dealing with anxiety or depression. Here are some key steps you can take to help address your mental health concerns:
- Share how you feel: Instead of keeping it to yourself, try calling or texting a trusted friend or family member who can help
- Lean on your loved ones: Be honest with them and let them help you through this
- Keep your doctor in the loop: If you’re concerned about your mental well-being, talk to your primary care doctor. They will be able to offer advice on treatments like therapy and medication while also addressing your Fabry symptoms
- Find a Fabry friend: There are many resources available for people with Fabry. Reach out to organizations like the National Fabry Disease Foundation (NFDF) and the Fabry Support & Information Group (FSIG). They are there to make it easier to find and connect with other people with Fabry disease through meetings, conferences, and other in-person and virtual events
- Be mindful: Mindfulness is the practice of being fully present rather than dwelling on the past or fearing for the future. Staying present can help you be aware of your body, symptoms, and emotions without distraction or judgment. Consider starting your mindfulness journey through yoga or meditation. Yoga combines physical and mental techniques that can help your body and mind feel at peace. Meditation helps encourage calm and balance, which is helpful when it comes to caring for your mental health
- Stay active: Remaining active can help you maintain a healthy mind and body. Incorporate physical activities that you enjoy and routines that fit your lifestyle and are within your physical capabilities
Chiesi Global Rare Diseases has partnered with NAMI to bring mental health to the forefront of the Fabry community
Together, Chiesi and the National Alliance on Mental Illness (NAMI) have created mindfullyrare.com—a site to spread awareness about the mental health struggles that come from living with Fabry disease.
Rethinking mental health
Learn how Fabry disease can affect your mental health.
Real-life
stories
Hear from others about their mental health journey and how they stay Mindfully RARE.
Support for caregivers & friends
Learn how you can provide mental health support for someone with Fabry disease.
Community support & resources
Find information and connect with the mental health community through NAMI.
Information about Fabry disease
Learn more about Fabry disease and how it affects the body.
NAMI HelpLine is available M-F
10 AM - 10 PM ET.
10 AM - 10 PM ET.
Connect by phone at 800-950-6264 or text “Helpline” to 62640, or chat. In a crisis, call or text 988.
Watch the webinar video: Managing the challenges of Fabry disease
Why early diagnosis matters
Early diagnosis and treatment can increase your chances for better outcomes—and may help slow down this progressive disease. 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
LET’S CHANGE HOW WE THINK ABOUT FABRY