Being diagnosed with Gaucher disease can be confusing and distressing. However, there is support for patients and families. Around the country, dedicated health care professionals, advocacy organizations, and other Gaucher disease patients and their families can offer their knowledge and support to the newly diagnosed and their family members. Go to Resources to find a host of helpful information and links to websites from health care professionals and support groups.

Gaucher disease can affect patients and their families in many ways. In addition to its symptoms and treatment, Gaucher disease may also raise some emotional and social challenges. Go to Managing Gaucher Disease to learn more about these potential challenges and ways to handle them.

To learn what it is like to receive enzyme replacement therapy, go to Visiting a Gaucher Treatment Center.

Learn from others

Sometimes, when you face a new challenge, it helps to learn from someone in a similar position. Many individuals with Gaucher disease have learned from experience about beginning infusion therapy and managing the emotional issues raised by the disease. Read Patient Profiles to meet some of these people and find out their strategies for living with Gaucher disease. If you have a child with Gaucher disease, he or she may benefit from reading about a boy or girl in the same position. Visit Find a Pen Pal to learn more about a Genzyme program designed to bring young Gaucher disease patients together for peer support and understanding.

Ask the right questions

A doctor-patient relationship based on open communication can be beneficial to patients and families. Click on Talking with Your Physician to learn how you can prepare for doctor visits to assist you in giving and receiving the information you may need for the most appropriate care for yourself or your child.

For parents of children with Gaucher disease

To aid young Gaucher disease patients, you may want to read the story of Gigi. It is available for parents or guardians to use when explaining Type 1 Gaucher disease and treatment to their child. By chronicling the experiences of a young girl with the disorder, this story helps to provide a child-friendly explanation of Type 1 Gaucher disease, its causes and symptoms, and treatment with Cerezyme^® (imiglucerase for injection).

Click here to learn more about Gigi.