Duchenne muscular dystrophyBMJ 2010; 341 doi: https://doi.org/10.1136/bmj.c4364 (Published 07 September 2010) Cite this as: BMJ 2010;341:c4364
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Following the comments from Robert Meadowcroft, I wish to add that as
a Year 3 Student Nurse and carer of 2 nephews whom have Duchenne Muscular
Dystrophy, this article highlighting A Patient's Journey places a
fundamental emphasis on the challenges faced. Not only from the day to
day living with Duchenne and developing the strength to cope with a life-
limiting neuromuscular condition, but also the distinct lack of awareness
between health professionals.
Throughout my training I have felt a great need to educate fellow
professionals in view to giving them a basic awareness of this rare
patient group, but if we are to reduce the unplanned emergency admissions
which as we know is considerably costly, then this awareness needs to be
raised within the Healthcare Profession.
I have also heard "horror" stories of patient's/carer's visiting GP's
and in front of them having to search via the internet or should I use the
popular phrase "Google it" to find out what Duchenne Muscular Dystrophy
is, this doesn't instill much confidence in those whom experience the
disease. But for those who simply want to achieve a good quality of life
and increased life expectancy, professionals need to respect the knowledge
that patient's and carer's have in relation to Neuromuscular disease.
Competing interests: No competing interests
I was delighted to see this article regarding Duchenne muscular
dystrophy, which like other forms of muscle disease, seldom receives the
attention it deserves.
I think your readers should also be aware of the excellent consensus
document on the Standards of Care for Duchenne, which was published in
Lancet Neurology in January and February 2010.
Further, in the advice given for medical professionals, no mention
was made of the information and support provided by the Muscular Dystrophy
Campaign, which can help to improve quality of life for the 70,000 people
in the UK with muscle-wasting conditions.
As the UK's leading muscle disease charity, one of the Muscular
Dystrophy Campaign's objectives is to offer emotional and practical
support as well as vital information to all those affected by muscle
disease and to improve knowledge of and access to specialist care
The Muscular Dystrophy Campaign's Care and Support team work to
support families in coping with the feelings of isolation, anxiety and
helplessness that can come with a diagnosis of Duchenne muscular dystrophy
and other forms of muscle disease. Providing information and contacts, the
team is also able to network families, once ready, with others in their
area who share the same diagnosis.
The muscular-dystrophy.org website contains an excellent bank of
information about Duchenne and other types of muscular dystrophy, from
information guides for families with a newly diagnosed child, to up to
date information about scientific research in the search for treatments
As Duchenne symptoms progress and parents adapt their homes and lives
to care for children with the condition, we are able to offer practical
support in the form of grants for vital equipment such as adapted trikes,
hoists and powered wheelchairs.
Working closely with regional Specialised Commissioning teams, we
have campaigned hard for the provision of specialist Care Advisors on
muscle disease to be appointed within each region. Care Advisors are often
the gateway to the therapy packages that we are striving to see
implemented across the UK including a network of expert counsellors,
physiotherapists, hydro therapists and consultants. An increasing number
of families now have access to the vital expert support of a regional Care
Advisor, and we continue to push for this service to be made available to
all muscle disease patients and their families.
In addition to signposting specialist advice, we run quarterly local
meetings, called Muscle Groups. These are an opportunity for patients and
their families to meet others in the same position, gain further
information on services in their area, seek advice from health
professionals and to work towards better care. Attendance of Muscle Group
meetings and involvement in campaign work often prove important tools in
addressing the feelings of powerlessness experienced by families affected
Further to our work with muscle disease patients, the Muscular
Dystrophy Campaign has produced guidelines for use by the medical
community. This includes a Guide to Transition, containing a section for
professionals outlining legislation, guidance and information about
transition services for young people aged 13- 25 years affected by muscle
It is extremely important for patients and families that health
professionals continue to highlight the support provided by the Muscular
Dystrophy Campaign to those affected by Duchenne and other muscle
diseases. Visit www.muscular-dystrophy.org to find out more, or call our
freephone information line: 0800 652 6352.
Competing interests: No competing interests