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Coping and support
By Mayo Clinic staffHaving any chronic illness can be difficult, but having a rare disease like Gaucher's may be even harder. Few people know about the disease, and even fewer understand the challenges you face. You may find that talking to someone else who has the disease or has a child with Gaucher's is helpful.
The National Gaucher Foundation has a mentor program that connects people who have the disease. To find out more you can visit its website or call 800-504-3189. Additionally, your doctor may know if there are any local support groups in your area.
- 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.
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