Why should I let my family know I have Gaucher?

Publication Details

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 signs of symptoms.

Enrique and Disleny’s story

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There is always communication within our family, because someone always has something. My father has Gaucher; his illness inspired me to study to become a nurse. In a class we were asked about an illness that runs in the family. I used Gaucher, and my teacher had never heard of it. I hope to help my family and eventually find a cure.

How do I talk to my family about Gaucher?

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.

These individual talks should take place when both you and your family member feel up to it: you should not feel rushed or tired. Give the conversation the energy and attention it deserves. Also make sure your family member does not feel threatened. Let him or her know you are open to questions and that it is not a one-time conversation; the discussion can continue in the future.

Bring support

If you have a friend or family member who is a medical professional or who understands Gaucher and has been a help to you throughout your diagnosis and treatment, it could be useful to have him or her there for support during the conversation.

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.

How do I prepare for the talk?

Know the facts

Know the facts about Gaucher so you can answer any questions your family members have or refer them to other resources. Use your own experiences and information you learned from your doctor and others. Remember, Gaucher varies from person to person, so talk to your healthcare provider for medical advice. [See chapter 2 for more details on Gaucher that you can share with family.]

Know how it might impact your family

For each family member you talk to, understand what your diagnosis might mean for him or her. For example, other family members may have an increased chance of being a carrier for Gaucher. This means they have one copy of the gene change. This is not a medical problem, but it is helpful information for family planning. Because Gaucher can run in families, it is possible that some of your relatives have Gaucher themselves. [See Chapter 4 for more information on inheritance.]

Get ready for different reactions

Be sensitive to a person’s wishes not to talk about certain topics. Some relatives might not be comfortable hearing about Gaucher or other health conditions right away. Make it clear that you are available to talk whenever they are ready.

Suzanne’s story

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When I was first diagnosed with Gaucher, my husband and I were devastated, and actually a bit confused. After the geneticist explained the inheritance of Gaucher, it all made sense. But the challenge was to explain it to my parents and the rest of our family. My father and mother did not want to accept the fact that they had passed a mutated gene to their child. There was a tremendous amount of guilt.

My father had the most difficulty with the diagnosis. He blamed my disease on all the exercise I did, or said I caught the disease from someone else. It took my parents a few months to realize the importance of understanding and learning about Gaucher and exactly how it was transferred from them to me.

Once they accepted it, my parents became proactive about Gaucher, holding fundraisers and speaking to Jewish organizations. My family also got tested: My father had asymptomatic Gaucher, my mother is a carrier, and my two sisters are carriers.

My family helped me get through many hurdles dealing with multiple surgeries and the early years of coping with horrific symptoms. I am fortunate to be blessed with the most amazing, supportive team: my family.

Conversation starters

There are many ways to talk to your family about health and Gaucher. After you tell your family your story, you might want to let them know what symptoms people can have that might be signs of Gaucher.

Health problems associated with Gaucher

  • Easy bruising
  • Prolonged bleeding time after getting a cut
  • Easy fatigue (tiredness)
  • Bone pain
  • Enlarged abdomen caused by enlarged liver or enlarged spleen

Questions about family to help build a family health history

  • Do you know if your parents or grandparents took medicine on a regular basis? If so, what kinds and for what?
  • Has anyone had problems in pregnancy or childbirth? What kinds of problems?
  • Are there any diseases that run in our family?
  • Is there anything else you would like to tell me about your life or health concerns in our family?