Survey – Frustration with diagnosis delays

A study supported by Muscular Dystrophy Australia has found that children with Duchenne MD are diagnosed at the age of five on average, but parents express concern about symptoms several years earlier. This delay is often stressful for families, impedes early access to treatment and increases the risk of having a second affected child.

The researchers at the Murdoch Children’s Hospital led by Professor Sylvia Metcalf interviewed 14 Victorian parents of boys with Duchenne MD about their experiences from first noticing symptoms to receiving a diagnosis. This led to a survey being designed which was filled out by 62 parents nationally. Hospital records from Victoria and Tasmania were also examined to gather further data on the age of diagnosis.

Hospital records showed that of 49 boys diagnosed in Victoria and Tasmania between 2005 and 2010, approximately one third were diagnosed between the ages of two and three. One boy was diagnosed as late as nine years of age. The average (median) age of diagnosis was five which is in line with figures from the US and Europe, and despite advances in testing and increased awareness of MD, the age of diagnosis has remained unchanged for the last 25 years.

In interviews parents reported noticing symptoms between six months and four years before a diagnosis was reached. For four of the 11 families the pathway to diagnosis was quite straightforward but for the others, many consultations with different health professionals were required. Frustrations were expressed with false reassurances and incorrect diagnoses.

From the survey, a delay of about a year on average was reported and about half of parents thought that their son could have been diagnosed earlier. The most common initial signs were difficulties with running and climbing stairs. Many parents described this time as fraught with confusion and emotions. Parents often reported feeling anxious, stressed and frustrated while seeking a diagnosis.

Views on gaining an earlier diagnosis were mixed. Parents said that an earlier diagnosis could inform reproductive planning and allow for financial and practical planning and earlier access to treatments. The researchers elaborated by saying that early access to therapies will become increasingly important as new, more effective treatments become available. Early access to current treatments such as physiotherapy to prevent contractures and steroids is also advantageous. Steroids, which are currently the only treatment shown to slow down the progression of the condition, are usually started between the ages of 4 and 6.

However, many parents, although frustrated by the delay in diagnosis, appreciated having that time with their child before signs of Duchenne MD became evident. It was felt that receiving a diagnosis too early, before symptoms are obvious, could be confronting or negatively impact on bonding and that having to go through a process of noticing symptoms and seeking a diagnosis allows time to gradually accept the diagnosis.

The researchers suggested ways of improving the diagnosis of Duchenne MD including raising greater awareness in the medical profession, screening of children at various ages and newborn screening. This last option is controversial for a condition that currently has limited treatment options and at present the only country in which newborns are routinely screened is Belgium. However, as new treatments emerge in the future, newborn screening may become more acceptable and the ethics and feasibility of such a test are already being discussed in many countries.

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Uploaded 3 July 2018