TALKING WITH YOUR DOCTOR

It’s not always easy to diagnose Gaucher disease type 1 because its symptoms often mimic other diseases. Many people are misdiagnosed or assume they have already been tested.

Start the conversation

Start the
conversation

Your doctor will work with you from testing and diagnosis to treatment. It is important to check in regularly and be an active participant in your own medical care by speaking openly and honestly with your doctor.

  • Be vocal and ask questions if you or a loved one has experienced symptoms of Gaucher disease
  • Voice your concerns if you’ve recently been diagnosed with Gaucher disease
IF YOU SUSPECT GAUCHER DISEASE OR A FAMILY MEMBER HAS BEEN DIAGNOSED, TALK TO YOUR DOCTOR ABOUT THESE ISSUES. BELOW ARE SOME DISCUSSION TOPICS TO COVER.
It's time to talk about your symptoms

Experiencing symptoms? It's time to talk about them.

Gaucher disease may get worse over time, so it is important to talk with your doctor to be tested as soon as Gaucher is suspected. Here are some examples of questions to help you start the discussion if you or a loved one may be experiencing symptoms of Gaucher disease. It is never too late to be tested:

  • I think the symptoms I have been experiencing seem to be similar to Gaucher disease. Are you familiar with Gaucher disease or other lysosomal storage disorders?
  • Do you think it’s possible that my symptoms may be caused by Gaucher disease or another inherited condition?
  • I read that testing for Gaucher is done by a simple blood test. Can you test me for Gaucher disease?
What if you've been recently diagnosed with Gaucher disease?

If you've been recently diagnosed with Gaucher disease,

it is important to check in regularly and keep your doctor updated if your condition changes. Here are questions to ask your doctor after diagnosis:

  • What treatment options are available and which might be right for me?
  • Which tests should I have, and how often?
  • What kind of specialist should I see? Do you know of one in our area?
  • Will you be monitoring my disease with the 7 tests? Download this brochure to learn more
  • What is my prognosis? Will I get worse over time?
  • How likely is it that my children have, or will have, Gaucher disease? Should they be tested?
  • Which members of my extended family should be tested for Gaucher disease?
  • Should our family talk to a genetic counselor? Can you provide a referral?
  • Are there any support groups in my area you can recommend?
If someone in your family has been  diagnosed with Gaucher disease

If someone in your family has been diagnosed with Gaucher disease:

Gaucher disease is an inherited, genetic condition. Even if you are not experiencing any symptoms, you should speak with your doctor and/or a genetic counselor about testing for Gaucher disease.

  • A family member was diagnosed with Gaucher disease, so I would like to be tested. Are you able to help me get tested?
  • Are you familiar with Gaucher disease?
  • Have you treated patients with Gaucher disease or other lysosomal storage disorders?

Gaucher disease type 1 can be managed

Treatment is available, including oral therapy.

Learn more about treatment approaches

Staying on track

CareConnectPSS® provides education and support for patients and their families affected by Gaucher disease.

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