It’s not always easy to diagnose Gaucher disease type 1 because its symptoms often mimic other diseases.
Many people are misdiagnosed or assume they have already been tested.
Although symptoms may be mild at first, they can worsen over time and cause serious damage. Treatment approaches are available to help manage the disease, including oral therapy.
Talk to your doctor about getting tested:
The Gaucher enzyme test is the gold standard for diagnosing Gaucher disease type 1. Your doctor can collect a blood sample and send it to a laboratory for testing at little or no cost* to you.
*Testing is performed at no charge, but local charges may apply for sample collection, processing, or shipping.
Please note: a bone marrow exam is neither necessary nor sufficient for diagnosing Gaucher disease; however, your doctor may consider doing a marrow biopsy to evaluate other problems with your bone marrow or spleen.
If you do have a confirmed diagnosis of Gaucher disease type 1, be sure to discuss treatment or disease management options with your doctor as soon as possible. Treatment can help alleviate certain symptoms and may help prevent certain long term complications.