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Gaucher Disease

Gaucher Disease. An Introduction. Gaucher Disease. Genetic disorder. Affects fewer than 10,000 people worldwide. Gaucher affects all racial and ethnic groups; prevalence is higher among Ashkenazi Jews. More common than Tay-Sachs. Gaucher Disease.

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Gaucher Disease

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  1. Gaucher Disease An Introduction

  2. Gaucher Disease • Genetic disorder. • Affects fewer than 10,000 people worldwide. • Gaucher affects all racial and ethnic groups; prevalence is higher among Ashkenazi Jews. • More common than Tay-Sachs.

  3. Gaucher Disease • Caused by insufficient or ineffective enzyme, glucocerebrosidase. • Body cannot process fatty substance called glucocerebroside. • Substance accumulates in the body.

  4. Gaucher Disease • Gaucher disease is inherited (passed from parent to child). • Both parents must be either carriers or have the disease for the disease to present in a child.

  5. Gaucher Disease – Symptoms • Gaucher is a progressive, debilitating and sometimes life-threatening disease. • Symptoms can include:easy bleeding and bruising, fatigue, anemia, weak bones, bone and joint pain, and enlargement of the spleen or liver. • Symptoms can appear at any age.

  6. Gaucher Disease – Diagnosis • Awareness of Gaucher disease is low among healthcare professionals. • Gaucher often goes unrecognized. • A simple blood test can identify Gaucher. • If you are at risk, consider testing.

  7. Gaucher Disease – Taking Control of Your Health • Learn to recognize symptoms. • Work with your healthcare provider to watch for abnormalities in blood, bone, liver and spleen. • Keep appointments for routine monitoring.

  8. Gaucher Disease – Resources • *National Gaucher Foundation (NGF)www.gaucherdisease.org • *National Organization for Rare Disorders (NORD)www.rarediseases.org • *National Institutes of Healthwww.rarediseases.info.nih.gov/ • Genzyme’s Gaucher disease websitewww.gauchercare.com * Please note that the opinions expressed by these organizations do not necessarily reflect the views of Genzyme. Genzyme does not maintain and is not responsible for the content of communications for the listed organizations or their views.

  9. Gaucher Disease – What You Can Do • Don’t wait – if you think you are at risk, ask your doctor. • Consider the benefits of informing your family. • Get information and find out about appropriate medical care. • Support the National Gaucher Foundation. • Ask people with Gaucher how you can help. • Talk about Gaucher wherever you can!

  10. Gaucher Disease An Introduction

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