At the Doctor's

Find the right doctor

As you're looking for the right doctor, it might help to make a list of the qualities you find important. Ask friends, family members, or members of Gaucher disease support groups for ideas and physicians to consider. You may want to meet with several doctors before making a final decision on a physician. You may find that a particular Diagnostic and Treatment Center is right for you.

Be prepared

To make the most of doctor visits for you or your child, consider planning ahead. Whether it's your first meeting or you've been seeing the doctor for years, you may find it helpful to prepare a list of your questions and concerns beforehand. If it is your first visit to a new doctor, here are some things you may want to include:

  • All of your symptoms, when they began, how often you or your child experience them, and how they've changed
  • The medications you or your child take
  • Your or your child's medical history
  • Any problems you or your child may have with daily activities

Get educated

The more you know about Gaucher disease, the bigger the role you may play in maintaining good health. There are a lot of places to get information about Gaucher disease, disease management, and treatment for Type 1 Gaucher disease. Your doctor is usually your primary source of information. It may help to write down any new information he or she gives you, or ask your doctor to provide written advice and instructions before you leave the office. The doctor also may have other materials to give you, like tapes, brochures, or videos about Gaucher disease.

The Internet may also be a valuable resource. On this website, you can visit About Gaucher Disease or go to Patient advocacy groups in the Resources and support section for links to additional websites. You may want to print out any useful pages you find for later use or to show to your doctor.

Ask questions

Remember, you may want to ask your doctor questions if you need more information or clarification. Don't be embarrassed to ask him or her to define new words or to explain any recommendations differently. It's also a good idea to repeat what your doctor has told you in your own words, just to make sure you have understood everything.

Be open

Being open is helpful to forming a good partnership with your doctor. This may mean telling him or her about symptoms that may be difficult for you to talk about, or admitting that you have not understood something he or she has told you. However, it may be helpful for the doctor to know these things. A change or a new symptom may mean that the treatment needs to be adjusted. Clarifying any misunderstandings may help your doctor better understand your needs.

Understand the treatment

Here are a few questions you may want to ask about your therapy and medications:

  • How and when should it be taken?
  • What are the side effects?
  • How will it interact with other medications?
  • How much will it cost?
  • Is it covered by my insurance?

Additionally, if you hear about a new treatment or medication, you may want to ask your doctor for more information.

Diagnosis and Testing

Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »