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Living with Fabry Disease.
Fabry is a debilitating condition associated with many problems and shortened life expectancy. With the development of Enzyme Replacement Therapy (ERT), however, many sufferers are able to live fulfilled lives. Alleviated symptoms often enable adults with Fabry to participate in family life, sustain relationships and seek employment, whilst children affected by the disease can enjoy social and physical activities with their peers.
Many adults with Fabry are aware that the condition runs in their family and have often prematurely experienced the loss of a parent through the disease. In a significant number of cases, Fabry has gone undiagnosed in children and is simply dismissed as ‘growing pains’. Upon diagnosis, sufferers are often relieved to find the cause of their unusual childhood symptoms of burning hands and feet, bowel problems, tiredness and the inability to sweat.
An individual’s diagnosis of this hereditary condition may lead to diagnosis in several members of the same family and can raise issues of pre-natal diagnosis and genetic counselling for those considering having children.
Those individuals who receive treatment and whose symptoms have been alleviated can have a greatly enhanced quality of life. They feel able to participate in the general activities of daily life which, in turn, can have a positive effect on relationships and the family, without being so restricted by the debilitating symptoms and emotional burden of living with this disease.Courtesy of MPS UK Society*