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Fabry Disease

Treatment

Your doctor will probably recommend enzyme replacement therapy (ERT). It replaces the enzyme that is missing or not working correctly so that your body can break down fatty substances the way it should. 

ERT is the only FDA-approved treatment for Fabry disease. It will help ease the pain and other symptoms that Fabry disease causes.

You will probably visit an outpatient center every few weeks to get the enzyme injected into a vein.

Your doctor may recommend that you also take:

  • Drugs to relieve pain (prescription or nonprescription)
  • Medicine for stomach problems
  • Blood thinners or other drugs for irregular heartbeat or other heart problems
  • Blood pressure medicine, which also helps protect your kidneys

You may need dialysis or a kidney transplant if Fabry disease has caused serious kidney damage.

You can also expect to get regular tests to keep track of how you're doing. These may include:

  • Blood, urine, and thyroid tests
  • EKG (electrocardiogram). A nurse or other medical professional will attach soft, sticky patches to different parts of your body. These patches measure electrical signals from your heart and can tell how fast your heart is beating and if it has a healthy rhythm.
  • Echocardiogram. This is an ultrasound of your heart. It can show if all the parts of your heart are healthy and if it’s pumping well.
  • Brain MRI. An MRI, or magnetic resonance imaging, makes pictures of organs and structures inside your body.
  • CT of your head. CT, or computed tomography, is a powerful X-ray that makes detailed pictures of the inside of your body.
  • Hearing and eye exams
  • Lung function test to see how much air you breathe in and out, and how much oxygen is getting to your blood

 

Taking Care of Yourself

Be good to yourself. Do things that you enjoy, spend time with people who are good company, and save your energy for the things that really matter to you. Part of that may involve saying "no" more often, and letting people know what would help you. That's OK to do! 

Your family and friends may not know much about Fabry disease. Help them understand what's going on with you. Sometimes, when people have serious health conditions, they get depressed or anxious because the condition is a lot to deal with. Your doctor should check on how you're feeling, but you may want to bring it up and ask for a referral to a counselor. Talking to someone can help a lot.

What to Expect

Although there is no cure for Fabry disease, treatment can bring your symptoms under control.

Even though you may not feel sick or seem to be having any problems, it's important that you follow up with treatments and tests as your doctor suggests.

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