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Desirability of early identification of Duchenne Muscular Dystrophy (DMD): parent’s experiences of the period prior to diagnosis.
Eilers, R., Kleinveld, J.H., Vroom, E., Westerman, M.J., Plass, A.M.C. Desirability of early identification of Duchenne Muscular Dystrophy (DMD): parent’s experiences of the period prior to diagnosis. European Journal of Public Health: 2012, 22(suppl. 2), p. 265. Abstract. 5th European Public Health Conference 'All inclusive public health'. 7-10 November 2012, St. Julians (Malta).
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Duchenne Muscular Dystrophy (DMD), X-linked recessively inherited, is the most common progressive muscular disorder in children. Early diagnosis could offer opportunities for timely initiation of treatment possibilities, genetic counselling, and prevent a long diagnostic quest. Despite the availability of a test, DMD is not included in the newborn screening programs. Ethical concerns, e.g. parents would not be able to enjoy the first carefree years of their child before learning that the child is affected with DMD, are considered strong arguments for not considering DMD screening. However, this has never been properly assessed. Aim: This study aimed to explore the way in which parents experienced the period from their child’s birth to the time the diagnosis was made. Method: A qualitative face-to-face semi-structured interview was held with parents of sons affected with DMD. Results: 8 parent-couples, invited by the Dutch Duchenne Parent project, participated. They reported minor worries starting shortly after birth, increasing over time. All parents wished they had known the diagnosis earlier, preferably before the child was two years of age, for they regretted the way they had treated their child during the period in which they were unaware of the disorder in their child. Conclusion: A true carefree period seemingly does not exist. Early diagnosis would have enabled parents to treat their child in the best possible way, adjusted to their child’s condition (‘good parenting’). This emerging need for ‘good parenting’, parents expressed, by far outweighed the possibility of enjoying a carefree period in the child. (aut. ref.)
Duchenne Muscular Dystrophy (DMD), X-linked recessively inherited, is the most common progressive muscular disorder in children. Early diagnosis could offer opportunities for timely initiation of treatment possibilities, genetic counselling, and prevent a long diagnostic quest. Despite the availability of a test, DMD is not included in the newborn screening programs. Ethical concerns, e.g. parents would not be able to enjoy the first carefree years of their child before learning that the child is affected with DMD, are considered strong arguments for not considering DMD screening. However, this has never been properly assessed. Aim: This study aimed to explore the way in which parents experienced the period from their child’s birth to the time the diagnosis was made. Method: A qualitative face-to-face semi-structured interview was held with parents of sons affected with DMD. Results: 8 parent-couples, invited by the Dutch Duchenne Parent project, participated. They reported minor worries starting shortly after birth, increasing over time. All parents wished they had known the diagnosis earlier, preferably before the child was two years of age, for they regretted the way they had treated their child during the period in which they were unaware of the disorder in their child. Conclusion: A true carefree period seemingly does not exist. Early diagnosis would have enabled parents to treat their child in the best possible way, adjusted to their child’s condition (‘good parenting’). This emerging need for ‘good parenting’, parents expressed, by far outweighed the possibility of enjoying a carefree period in the child. (aut. ref.)