Gaucher disease may raise many questions and concerns. Once a diagnosis is made, you may feel uncertain about the future. In addition, you may have to manage symptoms such as pain and fatigue, and deal with a range of emotional issues. Here are potential ways to help face some of the challenges related to Gaucher disease.

Managing pain

The pain associated with Gaucher disease (especially bone pain) can range from moderate to severe, preventing normal activities and making sleep difficult. You can discuss the following topics on pain management with your doctor:

Treatment options

Techniques to assist in alleviating pain

Adjustments to daily routines (selecting appropriate activities, pacing activities, etc.)

Coping with fatigue

Fatigue is a challenge faced by many Gaucher disease patients. Some people who are severely anemic may feel tired, even after a full night’s sleep. Some children may lack the energy and stamina to play with other children, and ordinary activities may require more effort for a person with Gaucher disease. Methods to cope with fatigue may include:

Pacing activities

Balancing play with rest

Eating a healthy diet

Addressing effects on appearance

Abdominal swelling due to an enlarged liver or spleen may cause concerns over body appearance and social reactions to this appearance. For example, children and adults may be teased. You may want to consider discussing this with your child, teachers, and your physician to plan appropriate responses.

Special considerations for children

The challenges for children with Gaucher disease are many, and they may put a strain on parents and families. Physicians, nurses, genetic counselors, and community agencies and organizations may offer valuable support. Working together, parents and health care professionals can develop valuable coping skills.

Because of various symptoms (such as anemia and a higher risk of fractures), children with Gaucher disease may be less agile and unable to engage in contact sports. These children may be encouraged to try more appropriate activities, including swimming, bicycle riding, or dancing. Teenagers with Gaucher disease may experience a delay in puberty, causing them to appear less mature than their peers.

You may want to discuss options for dealing with these issues with your physician.

Overcoming denial

People of any age with Gaucher disease may have difficulty accepting that they have a chronic illness. Short-term denial may be a reaction to the surprise, fear, and uncertainty surrounding a new diagnosis. However, long-term denial may prevent some people from seeking appropriate care. People with Gaucher disease and their families may get help in dealing with these emotions by accessing resources available to them, including:

Gaucher disease associations

Support groups

Individual and family therapy

Educational materials

More help with coping

You can find further information and services by going to Resources. The pages in that section may offer helpful materials and information about support groups around the country. You can also locate a treatment center, get answers to your medical questions, and create a basic infusion schedule reminder chart for you or your child.