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?
May 24, 2017
- Hughes D. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- Gaucher disease (Type 1). Genetic Disease Foundation. http://www.geneticdiseasefoundation.org/genetic-diseases/gaucher-disease-type-i/. Accessed Jan. 6, 2017.
- Hughes D. Gaucher disease: Initial assessment, monitoring and clinical course. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- Gaucher disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/gaucher-disease. Accessed Jan. 6, 2017.
- National Library of Medicine. Gaucher disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/gaucher-disease. Accessed Jan. 6, 2017.
- Hughes D. Gaucher disease: Treatment. http://www.uptodate.com/home. Accessed Jan. 6, 2017.
- FDA approves new drug to treat a form of Gaucher disease. U.S. Food and Drug Administration. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm410585. Accessed Jan. 6, 2017.