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Preparing for your appointment
By Mayo Clinic staffYou're likely to start by first seeing your family doctor, a general practitioner or a pediatrician, depending on your age when you are first diagnosed. 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 a doctor who specializes in brain and nervous system disorders (neurologist).
Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready for your appointment, and what to expect from your doctor.
What you can do
- Write down any symptoms you're 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 that you're taking.
- Try to create a family medical history ahead of time. 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 come along, if possible. Sometimes it can be difficult to soak up all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
- Write down questions to ask your doctor.
Your time with your doctor is limited, so preparing a list of questions ahead of time may help you make the most of your time. For Gaucher's disease, some basic questions to ask your doctor include:
- What's the most likely cause of my symptoms?
- Are there other possible causes for my symptoms?
- What kinds of tests do I need? Do these tests require any special preparation?
- What's my prognosis
- What treatments are available, and which do you recommend?
- What types of side effects can I expect 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 that I need to follow?
- 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 Web sites do you recommend visiting?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
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:
- When did you first begin experiencing symptoms?
- How severe are your 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 May 22, 2009.
- Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed May 26, 2009.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed May 27, 2009.
- NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed May 27, 2009.
- Hopkin RJ, et al. Lysosomal storage diseases. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw-Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2903685. Accessed May 27, 2009.
- Beutler E. Lipid storage diseases. In: Lichtman MA, et al. Williams Hematology. 7th ed. New York, N.Y.: McGraw-Hill Medical; 2006. http://www.accessmedicine.com/content.aspx?aID=2146463. Accessed May 27, 2009.
- Anderson HC, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine. 2005;7:105.
- Zavesca (prescribing information). San Francisco, Calif.: Actelion Pharmaceuticals Inc.; 2008. http://www.zavesca.com/pdfs/zavesca_pi.pdf. Accessed May 26, 2009.
