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    Fabry Disease

    Getting a Diagnosis continued...

    When you see your doctor, he will do a physical exam and ask you questions like these:

    • How are you feeling?
    • What's concerning you?
    • What symptoms have you noticed?
    • When did those symptoms start?
    • What medical conditions run in your family?
    • Have you seen other doctors about this problem? What did they tell you?

    If your doctor thinks it might be Fabry disease, he will ask you to either take a blood test so he can measure the level of alpha-galactosidase A, or take a DNA test.

    Questions for Your Doctor

    When your doctor says you have Fabry disease, that may be the first time you've heard of it. You probably have a lot of questions, especially if you've been trying to figure out for a long time what's causing your symptoms.

    You may want to start by asking your doctor questions like these:

    • How did you diagnose Fabry disease?
    • How has it affected my body?
    • How many people with Fabry disease have you treated?
    • Are there other doctors you would recommend that I see?
    • What treatment do you recommend?
    • How will we know if the treatment is working?
    • What are the side effects?
    • Do other people in my family need to get genetic testing to see if they have it?
    • Are my children likely to get 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:

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

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