Optimizing Your Health

Many people with Gaucher disease (pronounced go-SHAY) live well thanks to treatment and early management of the disease. The most important part of optimizing your health is seeing a specialist who can track your health and adjust your treatment as necessary.

Finding a Gaucher Disease Specialist

Many primary care physicians have never even heard of Gaucher disease, let alone how to treat it. Unfortunately, irreversible damage can occur if physicians do not manage the disease properly.

That is why it is so important to have a specialist track your symptoms, adjust your medication and monitor you for related health issues. For many patients, this requires only one visit a year. Learn more about creating a Gaucher disease treatment team.

What defines a Gaucher specialist?

A Gaucher specialist is a doctor who has a focused interest in treating patients with Gaucher disease. There are many types of Gaucher specialists, including:

  • Hematologists
  • Geneticists
  • Pediatricians
  • Orthopedists
  • Liver specialists

While Gaucher specialists exist across a variety of medical fields, they typically meet some or all of the following criteria:

  • 10 or more active patients with Gaucher disease
  • An active clinical or lab research interest in Gaucher disease for 5 or more years
  • Contribution to medical research papers on Gaucher disease
  • Track record of advocacy for patients with Gaucher disease

Learn more about finding a specialist with our Gaucher disease treatment finder.

Is Your Dosage of Enzyme Replacement Therapy Correct?

Some patients experience unnecessary fatigue due to an insufficient dose of enzyme replacement therapy (ERT). A Gaucher specialist can ensure that you’re getting the proper dosage of ERT to reduce fatigue and other health issues.

Specialists also track important health indicators such as spleen and liver volume, bone density and blood counts. This is critical to tailoring your dosage and avoiding complications of Gaucher disease. Specialists work with you to define and adjust meaningful treatment goals, also helping monitor your progress towards those goals.

Everyday Health for People Living with Gaucher Disease

With Gaucher disease, taking care of your body is essential for managing symptoms and related health issues. Diet and exercise are key, helping strengthen your bones and ensuring that you get the proper nutrients for optimal health.

A specialist can identify any underlying nutritional deficiencies and recommend supplements to improve your health. Specialists also monitor patients for conditions related to Gaucher disease, allowing for earlier diagnosis and treatment. Learn more about Gaucher disease and associated conditions.


It’s important to monitor Gaucher disease with regular assessments. Sanofi Genzyme has developed a website to help you better understand the tests that your doctor may use to help better manage your disease. Called “Seven Tests for Managing Gaucher,” the site contains information on Gaucher tests and disease management goals using guidelines originally developed by Gaucher disease experts from around the world.

Visit the “Seven Tests” site here: http://seventests.com/

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