Preparing for an appointment

You're likely to start be seeing your primary care provider. Then you might be referred to a doctor who specializes in blood disorders (hematologist) or to a doctor who specializes in inherited disorders (geneticist).

What you can do

Before the appointment, you may want to write a list of answers to the following questions:

• Has anyone in your family been diagnosed with Gaucher disease?
• Have any children in your extended family died before the age of 2 years?
• What medications and supplements do you take regularly?

What to expect from your doctor

Your doctor might ask questions, including:

• What are the symptoms, and when did they begin?
• Is there pain in the abdomen or bones?
• Have you noticed easy bruising or nosebleeds?
• What's your family's ancestral heritage?
• Are there diseases or symptoms that have occurred in several generations in your family?