Questions to Ask for Yourself

It is important to get regular medical care, and to talk openly with your doctor about your health concerns. This page provides suggested questions you may want to ask your doctor if you’ve experienced any of the symptoms of Fabry disease, if someone in your family has been diagnosed, or if you’ve been diagnosed with Fabry disease.

The Fabry Disease Symptom Checklist may help you to talk about any symptoms you may have experienced.

Your doctor will be able to help you decide whether to get tested for Fabry disease, and may refer you to a specialist for further tests or treatment options.

If you’ve had Fabry disease symptoms

Remember that the symptoms that occur with Fabry disease can also occur in other diseases and conditions, so any single symptom on its own does not mean you have Fabry disease. Your doctor can best guide you through the process of arriving at a diagnosis. Many doctors may not encounter a lysosomal storage disorder or Fabry disease on a regular basis due to their rarity, so your questions, symptom experience, and proactive communications can help identify and narrow down potential causes with your doctor.

If you have or had symptoms similar to the ones mentioned for Fabry disease in this website, here are some examples of questions that may help assist you and your doctor in this process:

  • Are you familiar with Fabry disease or other lysosomal storage disorders?
  • Do you think it’s possible that my symptoms may be caused by Fabry disease or another genetic condition?
  • Are you familiar with the test for Fabry disease?
  • Should I have this test and what is the process?
  • Should I see a geneticist? Is there a physician in our area who has experience with genetic diseases?
  • Should our family talk to a genetic counselor? Can you provide a referral?

If someone in your family has been diagnosed

It is important to speak to a genetic counselor to get information on testing for Fabry disease even if you have not experienced symptoms. They will also be able to tell you who else in your family should get tested.

Earlier diagnosis can lead to early management of Fabry symptoms. You may want to ask your doctor:

  • Have you treated patients with Fabry disease or other lysosomal storage disorders?
  • Are you familiar with Fabry disease? Should I have this test?
  • Should our family talk to a genetic counselor? Can you provide a referral?

If you’ve been diagnosed with Fabry disease

It is important to get regular medical care, and to keep your physician or physicians updated if your condition changes. You may want to ask your doctor:

  • What tests should I have, and how often?
  • What specialist should I see?
  • How will you monitor my illness?
  • What is my prognosis? Will my condition worsen over time?
  • What treatment options are available?
  • How likely is it that my children have Fabry disease? Should they be tested?
  • Which members of my extended family should be tested for Fabry disease?
  • Should our family talk to a genetic counselor? Can you provide a referral?
  • What lifestyle changes can I make to reduce the chances of a “Fabry crisis”? What should I do if this happens?
  • Do you recommend an exercise plan?
  • Do you have any dietary recommendations?
  • What strategies can I use to cope with the symptoms?
  • How can I help my family, friends, and coworkers understand my illness?
  • Are there any support groups in my area you can recommend?