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?