Questions to Ask for Your Child

This page provides suggested questions you may want to ask your doctor if your child has experienced any of the symptoms, or if your child has been diagnosed with Fabry disease.

The Fabry Disease Symptom Checklist may help you talk about any symptoms your child has experienced.

Your doctor will be able to help you decide whether your child (and others in your family) should be tested for Fabry disease, and may refer you to a specialist for further tests or treatment options.

If your child has 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 your child has 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, your child’s symptom experience, and proactive communications can help identify and narrow down potential causes with your doctor.

If your child has 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?
  • Have you treated patients with Fabry disease or other lysosomal storage disorders?
  • Do you think it’s possible that my child’s symptoms may be caused by Fabry disease?
  • Are you familiar with the test for Fabry disease? Should my child have this test?
  • Should our family talk to a genetic counselor? Can you provide a referral?

If your child has 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 child's doctor:

  • What tests should my child have, and how often?
  • How will you monitor my child’s illness?
  • How can I get the support of my child’s teachers, school nurses, and school administrators?
  • What community activities and programs might benefit my child?
  • Will my child experience normal adulthood? Will Fabry disease affect my child’s ability to have a family?
  • What is my child’s prognosis? Will the condition worsen over time? What can we do to help prevent this?
  • What treatments options are available?
  • How likely is it that my other children will develop Fabry disease? Should they be tested?
  • Should I or my spouse be tested?