You're likely to start by seeing your family doctor, a general practitioner or a pediatrician, depending on your age. However, you may then be referred to a doctor who specializes in blood disorders (hematologist). Depending on the type of complications you experience, you may also need to consult other doctors, such as a doctor who specializes in brain and nervous system disorders (neurologist).
Here's some information to help you get ready for your appointment, and to know what to expect from your doctor.
What you can do
- Write down any symptoms you're experiencing or your child is experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
- Write down key personal information, including any major stresses or recent life changes.
- Make a list of all medications, vitamins and supplements you're taking or your child takes.
- Try to create a family medical history. Of particular importance is whether anyone in the family has been diagnosed with Gaucher's disease, as well as whether anyone died in infancy.
- Ask a family member or friend to join you, if possible. Someone who accompanies you can help you remember the information your doctor gives you.
- Write down questions to ask your doctor.
Preparing a list of questions may help you make the most of your time with your doctor. For Gaucher's disease, some basic questions to ask your doctor include:
- What's the most likely cause of these symptoms?
- Are there other possible causes for these symptoms?
- What kinds of tests are needed? Do these tests require any special preparation?
- What's the prognosis?
- What treatments are available, and which do you recommend?
- What types of side effects can be expected from treatment?
- Are there any alternatives to the primary approach that you're suggesting?
- I have other health conditions. How can I best manage them together?
- Are there any restrictions?
- Can I have children? Will I pass this disease on to them?
- Are there any brochures or other printed material that I can take home with me? What websites do you recommend?
Don't hesitate to ask any other questions that occur to you.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:
Jul. 08, 2011
- When did symptoms begin?
- How severe are the symptoms?
- Does anything seem to improve or worsen your symptoms?
- Do you know if anyone in your family has had Gaucher's disease? If yes, do you know what type?
- What's your family's heritage?
- Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
- Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed March 6, 2011.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed March 6, 2011.
- NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed March 6, 2011.
- Eng CM. Treatment of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
- Mistry PK, et al. A reappraisal of Gaucher disease — diagnosis and disease management algorithms. American Journal of Hematology. http://wileyonlinelibrary.com/cgi-bin/jhome/35105. Accessed March 3, 2011.
- ACOG committee opinion: Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. Obstetrics & Gynecology. 2009;114:950.
- Piran S, et al. Gaucher disease: A systematic review and meta-analysis of bone complications and their response to treatment. Journal of Inherited Metabolic Disease. 2010;33:271.
- Gross SJ, et al. ACMG practice guidelines: Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine. 2008;10:54.