Fabry disease affects many parts of your body, from your heart to your digestive system. To manage it well, you need a team of doctors and other health care professionals. They'll work together to help you avoid many of the problems this disease can cause.
Because you'll see so many doctors, it's important that each one knows your health history and all the medicines you take. Make sure to share your medical records with every health care professional you visit.
One doctor will be in charge of your care. This could be someone who specializes in genetic diseases like Fabry disease.
Your main doctor will examine you and recommend treatments like enzyme replacement therapy (ERT), which replaces the enzyme your body needs to break down fat. Your doctor may also recommend you receive treatments that help your own enzyme work better.
This doctor can also refer you to other specialists and coordinate your care with them.
A cardiologist diagnoses and treats heart problems from Fabry disease. This doctor will do regular checks of your heart and treat problems like:
- Abnormal heart rhythm (arrhythmia)
- Swelling of the heart's left pumping chamber (left ventricular hypertrophy)
- Heart failure
A neurologist treats diseases of the nervous system -- the brain and spinal cord. Fabry disease can damage blood vessels in the brain and raise your chances of a stroke or other nervous system problems.
Neurologists treat Fabry disease symptoms like:
- Weakness or lack of movement (paralysis)
- Loss of muscle control
- Double vision
- Trouble speaking
- Burning or tingling in your hands or feet
Sometimes the first symptoms of Fabry disease appear on your skin. One of the most common skin changes is hard reddish-black growths that look like warts, called angiokeratoma.
Dermatologists treat these growths and other Fabry disease skin symptoms, like abnormal sweating.
Almost everyone with Fabry disease has gray, brown, or yellow streaks in their cornea -- the clear part in the front of the eye. These streaks don't usually affect eyesight. But rarely, Fabry disease can cause more serious eye problems like cataracts that can cause vision loss.
Your eye doctor will give you regular eye exams with a tool called a slit lamp. Finding and treating eye problems early can help protect your vision.
This is one of the most important doctors you'll see. Kidney disease can be a serious complication of Fabry disease, and it will get worse if you don't treat it.
Starting early ERT can help prevent kidney problems. A kidney doctor called a nephrologist will monitor you for any kidney damage and treat kidney disease right away if you have it.
Fabry disease can cause digestive symptoms that a specialist called a gastroenterologist can treat. For instance, you might get problems like:
- Belly pain
These symptoms may be mild, or severe enough to interfere with your daily life. ERT can help prevent these problems. Your doctor can suggest diet changes or prescribe medicine to treat them.
Fabry disease sometimes damages nerves in the ears that help you hear and stay balanced. This damage can lead to ringing in the ears (tinnitus), a spinning sensation called vertigo, or hearing loss.
Audiologists diagnose and treat hearing loss and balance disorders. You should see one of these specialists after you're first diagnosed with Fabry disease, and then once every 6 months for checkups. Treatments for hearing loss and other symptoms include hearing aids and medicines.
A physical therapist will teach you exercises to relieve symptoms like weakness and balance loss. They can also help you tweak your exercise program so you can stay active without hurting yourself.
Certain foods improve symptoms like nausea or diarrhea, or bring down inflammation in your body. The right diet is also important if you have kidney problems.
A dietitian can work with you to create a meal plan that suits your health needs.
Psychologists and Mental Health Counselors
You might find that living with a long-term condition like Fabry disease can raise your stress levels. Sometimes it can lead to feelings of depression.
A counselor or psychologist can talk you through any mental health challenges you face and offer tips to help you manage it.
A genetic counselor is involved in the genetic testing process for Fabry disease. After you get tested, this person helps you understand your results.
The counselor can also suggest other specialists you should see and recommend gene testing for your other family members who might be at risk for getting Fabry disease.
Social workers help people with chronic illnesses manage their day-to-day care. This person can:
- Give you information about Fabry disease
- Help you find services like transportation and home health care aides
- Offer advice on financial and insurance issues
To find a doctor or other specialists who treat Fabry disease, ask your primary care doctor or visit the web site of the National Fabry Disease Foundation.