Phillippa Farrant, whose son, Daniel, has been diagnosed with Duchenne muscular dystrophy (DMD), recently appeared in Parliament in the UK to fight for improved access to care and treatment for those with DMD. The full story can be read here, at The Brighton Magazine.
Duchenne muscular dystrophy is an inherited genetic condition that causes progressive weakening of the muscles. It is the most common type of muscular dystrophy. The serious and life-shortening condition usually affects young boys; about one hundred boys are born with the condition each year in the UK. It is caused by a mutation to a certain gene that stops the gene from producing the protein dystrophin. Dystrophin is crucial for building and maintaining muscle, so without it muscles are weaker and more delicate. This causes muscular weakness, the main symptom linked to DMD, which often begins as early as age three and gradually worsens over time. Muscle weakness usually begins in the arms and thighs, and then progresses to the heart and respiratory system. There is currently no cure for DMD, and medical care tends to focus on treating the symptoms or related conditions. Boys with the condition often use wheelchairs or other movement aids, physiotherapy, creatine supplements, and steroid medications to manage their symptoms.
However, treatment for the condition can be expensive and difficult to access. This is why Ms Farrant, whose son Daniel is affected by the condition, has been answering politician’s questions to help raise awareness and government services for the disease. She was asked to visit the House of Commons to give evidence as part of a government enquiry into the specialist care available to those with rare diseases on the National Health Service (NHS). Politicians asked her about her about how DMD affects her and her son’s lives, how accessible they have found NHS services, and what support has been available to her.
Ms Farrant said that she was pleased to provide a family perspective for the enquiry, and that
“it is not easy raising a child [with DMD], but it’s made much harder when you do not get the support you deserve.”
