Living with Gaucher Disease
What are the emotional and social aspects of Gaucher disease?
People with Gaucher disease, their spouses, and friends may face a wide variety of emotional and social challenges in addition to the physical limitations or complications posed directly by the disease. Which issues have to be dealt with, and to what degree will depend directly on the severity of the disease in each individual. People with Gaucher disease may find that over time they experience some, none, or many of the following challenges.
What about the uncertainty?
One of the most common emotional concerns posed by Gaucher disease relates to the feelings of isolation and ignorance about the disease. There is often a feeling of great uncertainty because the symptoms and their severity may vary widely and they may occur at any time. Some people remain symptom-free for many years, while others may begin having symptoms very early in life. This uncertainty can add considerably to the usual difficulties in making short and long-term plans and in setting goals. In addition, people with Gaucher disease and Gaucher carriers face difficult decisions, with no easy answers, about marriage and children. For example, if they have the disease, will they have the physical stamina to raise children, or will their children be affected by the disease. However, this uncertainty sometimes adds to the development of exceptional inner strength that many people with chronic illnesses often possess.
Is the disease painful?
The pain associated with Gaucher disease can range from very mild to extremely severe. Coping with the pain if it does become severe can be a major challenge for people with Gaucher disease. At times painful episodes may occur involving enlarged organs or affected bones. These episodes usually resolve within a week or two, but they can last longer. Sometimes potent medication may be necessary to control the pain during these episodes.
Some people with Gaucher disease go through periods of severe skeletal pain known as "bone crises." Joints swell, become shiny, red and inflamed, and actually feel warm to the touch. Sometimes the slightest movement can elicit excruciating pain. if the pain becomes sufficiently severe, it may prevent people from moving about comfortably, or make it difficult to sleep.
Adults and the parents of children with Gaucher disease work with their physicians to learn which analgesics or pain relieving techniques work best for them. In addition, they learn how to manage their lives to minimize the pain.
Is fatigue a problem?
Another challenge faced by some people with Gaucher disease is fatigue that may occur as a consequence of anemia. 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. They may have difficulty staying alert in the classroom, or concentrating on their homework. It is important for many people with Gaucher disease to include naps in their daily schedules to help combat bouts of fatigue. Ordinary activities that a healthy person can do easily may require more effort for a person with Gaucher disease. Many people find that they can do what they please if they are careful to pace themselves and ask for help when it is needed.
How does the disease affect mobility?
At different times, the effects of Gaucher disease can impair mobility for some people. Walking can become tiresome and difficult- especially for long distances or up and down stairs. A decrease in mobility may occur as a response to a bone crisis or as a result of a bone fracture. The use of ambulatory aids such as a wheelchair, crutches, cane, or walker may be helpful in these situations. In rare instances, the lack of mobility may become so severe that a person requires hospitalization or confinement to bed. For children, this can result in missed days from school. Adults who are working may require extra time off from work. Life-style changes can help to conserve energy and minimize the strain on bones and joints.
How does Gaucher disease affect appetite?
Pronounced liver and/or spleen enlargement can frequently affect a person's appetite because of the pressure exerted on the stomach. People with Gaucher disease often report a sensation of feeling full, even after having only a few bites of food. The enlarged organs leave little room in the body cavity for a full stomach. People with Gaucher disease may take longer to eat because their stomachs fill up so quickly. The fact that they may not eat much can become distressing for themselves and for family members. In these situations, empathy about the difficulties associated with mealtimes is helpful. Those people with digestive difficulties will also discover which foods or eating habits should be avoided in order to minimize digestive complaints.
How does Gaucher disease affect appearance?
Body image can be a difficult challenge for Gaucher patients who suffer from pronounced spleen and/or liver enlargement. Children and adults may be teased or ridiculed and accused of being fat, looking pregnant, or otherwise of being "different." For children, who can be very conscious of their appearance, such treatment can be particularly unpleasant and can hurt their self-image. In addition to dealing with the inherent problems of Gaucher disease, they have to contend with unjust comments focused on their appearance. In these situations, shopping for clothes that fit properly and are comfortable becomes important for children and adults. Individuals with pronounced abdominal protrusions may find that clothes, which are loose fitting or made of stretch fabrics, are often the most comfortable. Dungaree jeans and other clothes with more defined waisthands may put too much pressure on the enlarged organs.
What happens to children with Gaucher disease?
Children with Gaucher disease may grow more slowly than other children. They may be smaller and shorter because more of their energy is used to cope with the disease, and less is available for the growth process. They may be below the normal percentile in growth and in weight for children of their age. These children may also appear clumsy and off-balance because of their enlarged organs. Parents and teachers may have the tendency to baby children with Gaucher disease because sometimes they appear younger than their peers.
Teenagers with Gaucher disease frequently experience a delay in the onset of puberty. By their late teens, most children with Gaucher disease catch up with the rest of the population. They generally obtain their genetically programmed height and experience normal sexual development. However, the delayed onset of changes may cause some psychologic difficulties during adolescence.
Depending on the severity of the disease, Gaucher children with reduced agility, with a tendency toward bleeding or bone fractures, or with enlarged spleens may be advised by their physicians to avoid contact sports. Instead they may be encouraged to take up noncontact sports, such as swimming, bicycle riding, or dance. If their physical endurance is low because of breathing difficulties or anemia, "nonaerobic" activities may he preferable. More severely affected children with Gaucher disease should be careful about playing sports if they are susceptible to bone breaks, bruising, and fractures. However, less affected children can certainly participate in all but the most aggressive contact sports. A child who is strong enough to he actively interested in sports should be encouraged to participate and to learn to gauge the limitations of his or her own body.
It is important to encourage other activities to help the more severely afflicted group of children with Gaucher disease to develop outside interests and healthy socialisation skills. Children will often compensate for the things that they cannot do by excelling in other areas of their lives. Physicians and families can work together to determine which activities are most appropriate for children with Gaucher disease. Schools are often willing to develop alternate activities and programs for children with physical limitations.
What are some issues that may face parents of children with Gaucher disease?
Being the parent of a child with Gaucher disease can involve difficult decisions that other parents do not have to face, and for which there is often no clear advice. Gaucher parents must decide with their physicians, if their child's activity should be restricted. They must balance the physical risks with their child's need to fit in with other children. Gaucher parents must choose how and when to inform their child of his or her condition. They must decide whether to inform others such as school officials or friends. Parents must offer emotional as well as practical relief if their child suffers episodes of pain.
Family dynamics and relations between brothers and sisters (siblings) may shift as attention becomes focused on or away from the child with Gaucher disease. Marriages can come under stress. Siblings and/or parents may feel guilty or resentful.
The emotional issues associated with Gaucher disease can become especially upsetting for children who are at an age when it is so important "to be like" other children and to "fit in" with their group. They may become frustrated if they do not look like other children, and cannot always do the same things that other children can do. By understanding their child's emotional needs, parents can help the child to deal with the hurt that he or she may be experiencing. Physicians and other community resources can often bring invaluable support to families with chronically ill children. Sometimes just sharing these concerns with others can be very helpful.
What are some of the issues that face adults with Gaucher disease?
For individuals with Gaucher disease who first experience disabling symptoms in adulthood, the psychological impact can be great. Adults may feel that they used to have much more stamina to be able to enjoy the varied pleasures of life. They were busy with their families, careers, and social lives. They were independent and mobile. An abrupt onset of severe symptoms may suddenly interfere with career and life plans. For other adults who experience mild to minimal symptoms, the disease may have only minor effects on their lives. Sometimes, they forget about Gaucher disease altogether. As the disease progresses, some adults may feel drained and burdened by their limitations. They are forced to make life-style changes, to pace themselves, and to learn to adapt to their new situation.
It has been known for many years that Gaucher disease is caused by mutations in the gene for glucocerebrosidase (also known as GBA). More recently, it has been shown that individuals with Parkinson’s disease are also much more likely to have mutations in the GBA gene than would be expected by chance alone. This suggests that there may be a link between the two diseases. There is evidence to indicate that people with Gaucher disease are more likely to develop Parkinson’s disease than the general population. However, clinical experience also shows that the vast majority of Gaucher patients never develop Parkinson’s disease. What does this mean for Gaucher patients and their families? Here we briefly outline the symptoms of Parkinson’s disease, look at evidence for a link between Gaucher and Parkinson’s disease, and examine the implications for families affected by Gaucher disease. Click here to find out more