Coping with Gaucher Disease
People with Gaucher disease, their families, and friends may face a wide variety of physical, emotional, and social challenges.
Once a diagnosis is made, there is often a feeling of uncertainty about the future course of the disease because symptoms can vary so widely among patients and can develop at any time. This uncertainty adds to the usual difficulties one encounters in making short- and long-term plans. In addition, people with Gaucher disease and Gaucher carriers face difficult decisions about marriage and having children. Will their children be affected by the disease? A genetic counselor certified in inherited diseases would be able to answer your questions.
Bone pain associated with Type 1 Gaucher disease can range from minimal to severe. Coping with this pain can be challenging. For example, at their worst, bone crises can limit normal activities, make slight movements painful, make sleeping difficult, and force an individual to undergo hospitalization. Adults and parents of children with Gaucher disease can work with their physicians to determine which pain-relieving techniques work best. In addition, they can make lifestyle changes to minimize their pain.
Another challenge some individuals with Gaucher disease face is fatigue resulting from anemia and an enlarged liver or spleen. Those who are severely anemic may feel tired even after a full night’s sleep. Ordinary activities may require more effort for a person with Gaucher disease. However, most people find that they can engage in their normal activities if they are careful to pace themselves and if they plan accordingly with family, friends, teachers, employers, and others involved.
Body image can be a difficult challenge for individuals who have an enlarged spleen or liver, or are smaller in stature than others. Children and adults may be teased or ridiculed for looking fat, pregnant, smaller in stature or just “different.” This can be especially problematic for children who may suffer from a negative self-image during their formative years. To address these issues, counseling may be appropriate.
Genetics and Gaucher
Genetic counselors, health professionals who are trained to help families understand genetic disorders such as Gaucher disease, help determine if one is a carrier of the “Gaucher gene” and can provide valuable information and support for family planning. Learn more in Genetics and Gaucher »
For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »