It is important to be an active participant in your own medical care. If you suspect Gaucher disease or a family member has been diagnosed, talk with your doctor about these issues.
Don’t ignore your symptoms. Talk to your doctor about getting tested for Gaucher disease. Here are some examples of questions to help you start the discussion:
It is important to check in regularly and keep your doctor updated if your condition changes. Here are questions to ask your doctor after diagnosis:
Gaucher disease is an inherited, genetic condition. You could be asymptomatic or have very mild symptoms. Talk with your doctor and/or a genetic counselor about testing for Gaucher disease. Here are some questions you may want to ask:
Treatment options include oral therapies.5,6
Treatment options include oral therapies.4,6
Treatment options include oral therapies.1,2
Treatment options include oral therapies.4,5LEARN MORE
1. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.
2. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441.