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Fabry Disease

Treatment continued...

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.

Getting Support

You can find others living with Fabry disease and their caregivers through the Fabry Support & Information Group.

WebMD Medical Reference

Reviewed by David T. Derrer, MD on June 28, 2014
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