Living with Gaucher
How do you deal with Gaucher disease?
Persons with Gaucher disease, their families and friends can be confronted with a wide range of physical, emotional and social problems. Perhaps they are not aware of the fact that different treatments are possible.
Once a diagnosis is made, there is often uncertainty about the future course of the disease because the symptoms can vary greatly from patient to patient and can evolve continuously. This uncertainty comes on top of the usual problems that everyone has in making short and long-term plans. Moreover, people who suffer from Gaucher disease or who are carriers of the disease are often faced with serious decisions about getting married and having children. Will someone suffering from the disease, for example, have enough physical resistance to raise children? Will their children suffer from the disease?
Gaucher disease can be accompanied by moderate to severe pain. It can be a real challenge to keep this pain under control. In their worst phase, for example, bone crises can hamper normal activities, make small movements painful, cause problems when sleeping and make hospital admission necessary. Adults and parents of children with Gaucher disease can check with their doctors which techniques to relieve the pain work best. In addition, they can learn how they can adapt their lifestyle, for example how they can draw up a feasible schedule with daily activities and how they can minimize pain and at the same time remain independent.
Another challenge faced by patients with Gaucher disease is fatigue due to anemia and an enlarged liver and / or spleen. People with severe anemia can feel tired even after a night's sleep. Some children do not have enough energy to play with other children. They can also have problems staying alert at school or concentrating on their homework. Ordinary activities may require more effort for a person who suffers from Gaucher disease. Yet most patients experience that they can carry out their normal activities if they take enough time for everything and plan everything well with family members, friends, teachers and other people involved.
Dealing with the influence on the appearance
The appearance can be a serious challenge for patients who are smaller than others, with a big belly through an enlarged liver or spleen. Children and adults are sometimes teased or laughed at because they are fatter, look pregnant, are smaller or just "different". This can be especially problematic during the period in which the personality is formed and can lead to a negative self-image. A treatment with a therapist can be appropriate here.
Special attention for
Parents and teachers often have a tendency to "mother" children with Gaucher's disease because they look younger than their classmates because of the potential slowdown. An enlarged liver or spleen, susceptibility to bone fractures and other potential symptoms can make children with Gaucher's disease less agile and can make contact sport more difficult. More suitable activities are swimming, cycling or dancing. Teenagers suffering from Gaucher disease may be confronted with delayed puberty, although most adolescents catch up with their peers by the end of their teenage years. However, adolescence is a period in which self-esteem and acceptance by peers are very important for healthy mental development. Until the teenagers "catch up" their peers, psychological problems can occur in a period that is already very tumultuous on an emotional level.
It is important to encourage children suffering from a severe form of Gaucher disease to develop other interests, outdoor activities and healthy social skills. Children compensate what they cannot often do by excel in other domains. Doctors and family members can determine together which activities are most suitable for children with Gaucher disease.
Problems that parents of children with Gaucher disease can face
A child with Gaucher disease is associated with specific challenges. Parents want to cherish and protect their child, but do not want to deny the benefits of participating in school life and social activities.
Doctors and other healthcare professionals can help families to find the right balance. They can advise parents which activities best correspond to the capabilities of their child and at the same time minimize the risk of injuries. In addition, they can help to develop a treatment and follow-up schedule that fits within the family's schedule.
Doctors and healthcare professionals can provide support to deal with problems such as shifts in family dynamics. As more attention is paid to a child with Gaucher disease, marriages can come under pressure and brothers, sisters and / or parents may feel guilty or resentful. Together, parents and health professionals can develop skills to meet these and other challenges.
Problems that adults with Gaucher disease can face
People who are confronted with disabling symptoms for the first time in adulthood often have problems to accept the diagnosis. They can remember the period in which they could easily coordinate the needs of a family, career and social life.
The physical limitations associated with Gaucher disease can have an influence on the independence and mobility of the patient. Adults suffering from a severe form of Gaucher disease must compromise on lifestyle. These adjustments can make it difficult to accept the disease. Or the patients can get so used to living with the symptoms of Gaucher's disease that they do nothing to address the decline in their quality of life.
Overcoming denialRegardless of age, patients with Gaucher disease often have problems accepting that they suffer from a chronic disease. Some deny the severity of their symptoms; others refuse to believe that succession and treatment can help. In the short term denial is a normal reaction to the surprise, the fear and the insecurity associated with a new diagnosis. Denial can even be beneficial for some patients by helping them to continue their normal activities. However, long-term denial can be dangerous when dealing with the diagnosis and treatment of Gaucher disease, especially if a patient does not seek appropriate medical care or waits too long. Such delays may lead to a further progression of the disease, to a worsening of the symptoms and possibly cause irreversible damage to the body.