Gaucher Disease (cont.)

Medical Reviewer:

How are families affected by Gaucher disease?

A diagnosis of Gaucher in any person may reveal an increased risk that others in the family may carry the gene, or in fact have Gaucher. This includes siblings, parents, and children as well as more distant relatives such as cousins. Genetic counseling for families with Gaucher is important to help address who should be tested for Gaucher in order to determine if they have Gaucher of if they are carriers.

Hints for health

  • Early diagnosis may reduce risk of serious medical complications.
  • Gaucher is a lifelong condition. Visit your doctor regularly for check-ups. Specific monitoring over time will help your physician keep track of your liver and spleen size, platelet levels, and bone health.

Why is it important to let my family know I have Gaucher disease?

Gaucher is an inherited condition. This means it is passed on through generations. If you or someone in your family has Gaucher, other family members, adults or children, may also have Gaucher and not know it. Knowing this family health history can help you make smart choices for yourself and your family. For example, you can:

  • Get yourself and your partner tested for Gaucher and carrier status.
  • Make informed reproductive choices.
  • Get treatment at the first sign of symptoms.

How do I talk to my family about Gaucher disease?

Gaucher may cause symptoms that are different from common conditions like heart disease, diabetes, and cancer, but the steps you take to talk to your family about it can be similar.

Talk to your family

Your relatives are the best source of information about your family. This means you are a source of information for them in return. Family history is often shared during conversations at events like birthday parties, weddings, reunions, religious gatherings, holiday dinners, and funerals. These events provide an opportunity to talk to family members about their lives. You can ask them questions about their health and tell them what you know about yours.

Use what you have

Test results, letters from your doctor, or other information you received about your diagnosis can be shared with family to help them understand your circumstances. It may help explain their chances of having Gaucher or the chance of children inheriting Gaucher from their parents. Websites and brochures that have been useful for you might also be useful for your family members. This booklet can be passed along to help explain family health history and Gaucher.

Plan an individual conversation

After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

Bring support

After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

Send a letter

You may wish to send a letter to your family with an update on your health and information about Gaucher. Your physician or genetic counselor may be able to help you write this letter and identify who in the family would benefit from being informed.

Medically Reviewed by a Doctor on 8/26/2014