Talking with Your Doctor

It is important to be an active participant in your own medical care. If you suspect Gaucher disease or a family member has been diagnosed, talk with your doctor about these issues.

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

Don’t ignore your symptoms. Talk to your doctor about getting tested for Gaucher disease. Here are some examples of questions to help you start the discussion:

  • I think the symptoms I have been experiencing seem 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?

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? To learn more, click to download this brochure.
  • What is my prognosis? Will I get worse over time?
  • Which members of my 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

Gaucher disease is an inherited, genetic condition. You could be asymptomatic or have very mild symptoms. Talk with your doctor and/or a genetic counselor about testing for Gaucher disease. Here are some questions you may want to ask:

  • 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?
Lab technician with a petri dish and pipette

If you suspect Gaucher, get tested

Talk to your doctor -it’s a simple blood test

Doctor speaking to a patient

Gaucher disease can be managed5,6

Treatment options include oral therapies.5,6

Gaucher disease can be managed4,6

Treatment options include oral therapies.4,6

Gaucher disease can be managed1,2

Treatment options include oral therapies.1,2

Gaucher disease can be managed4,5

Treatment options include oral therapies.4,5

Doctor speaking to a patient

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1. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.

2. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441.