Gaucher Disease

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 includeeasy 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 Health
  www.rarediseases.info.nih.gov/
• Genzymes 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

• Dont 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