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.
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.
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:
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:
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.