Treat-NMD Network as part of an international working group recently published updated Care Considerations for Duchenne muscular dystrophy in the Lancet.
The new care considerations are a set of clinical care recommendations, drafted by international experts from a wide range of specialist disciplines. The considerations offer health professionals guidelines on the best practice for diagnosing Duchenne and managing its symptoms and are also useful for families and individuals living with the condition.
The Duchenne care considerations which were first published in 2010 have helped strengthen the multidisciplinary care. This improved care has increased life expectancies and with that there has been a shift to more anticipatory diagnostic and therapeutic strategies with a renewed focus on patient quality of life.
Claire Bosanquet, from Nottingham, who has two sons with Duchenne muscular dystrophy, describes how she feels care for people Duchenne has improved and the impact this has had on her family:
I have 2 sons with Duchenne, Jack aged 18 and Tom aged 15. They were both diagnosed in 2003 and at the time we were told there was no cure and life expectancy was going to be late teens/early twenties. So basically, we were told there is no hope and we should get on with managing this devastating condition as best we can.
However, in the time since there has been significant investment in scientific research and my boys participated in an exon skipping drug trial in 2009. So whilst progress is slow, these developments provide hope to newly diagnosed families. I am also aware that other drugs for different Duchenne gene mutations are now available, such as Translarna.
One significant change has been NHS funding for specialist Neuromuscular Care Advisors – which Muscular Dystrophy UK has campaigned for - including in our area, to support families with accessing support for the complexities of living with Duchenne. With better management and care adults with Duchenne are now living into their 30s and 40s.
Improved care has meant improved quality of life. My eldest son Jack is now planning to study Biology at university later this year. His brother, Tom (who has additional learning difficulties often associated with Duchenne), plays powered wheelchair football and enjoys performing with his local choir, Atmosphere Glee.
However there are still significant challenges with ensuring that improved care can be maintained, given the current economic climate and pressures on public services.
Care recommendations for adults living with Duchenne muscular dystrophy.
The Adult North Star Network is creating the first ever care recommendations for adults living with Duchenne.
To create the care recommendations, expert working groups have come together to design best practice recommendations on the delivery of care for adults with Duchenne. A three month consultation gathering the views of adults with this condition on the recommendations also recently concluded and will inform the forthcoming guidelines.
The guidelines are planned to be launched and published in 2018,and will outline the key interventions and care that should be available to any young adult with Duchenne, and will be the first formal document created that will outline best-practice care for adults with this condition.
Facebook question and answer session with expert clinicians
Later this year we will be holding an online Q&A session where you can ask clinicians (Dr Jarod Wong, Consultant Paediatric Endocrinologist, University of Glasgow, Dr Ros Quinlivan, Consultant in Neuromuscular Diseases, at the National Hospital and Suni Narayan, Head of Clinical Development at MDUK) what these updates to the care considerations mean to you and your family.
Details will be published on our website.
If you would like to speak to someone about the new care considerations or anything else related to Duchenne muscular dystrophy please call us on 0800 652 6352 or email info@musculardystrophyuk.org