Charity Details
Action Duchenne (in aid of Duchenne Muscular Dystrophy) - Charity No. 1101971 - http://www.actionduchenne.org (or for the fundraising page click here)
Why are we supporting Action Duchenne?
Late in 2008 we were heartbroken to be told
that our wee boy Logan was suffering from Duchenne Muscular Dystrophy (DMD). Logan is five years old and is son to Gareth Mitchelson and grandson to Wilma Tolmie (both former World Champions). Both Logan's sisters (Isla and Kirstin) are keen competitors and aspire to follow in their dad's footsteps. Logan also loves to dance, but due to his condition can be left tired following school and therefore can't always make granny's dancing class. However, he is quite happy to join in at the practice at home with the girls, with his favourite dance being the jig. It is often hard for people (including ourselves) to believe that there is anything wrong with Logan, as he looks a picture of health. However, the reality is that the strength he has gained over the last year is down to long-term steroid use and daily physio which specialists believe will keep Logan mobile longer. There are still things Logan can't and may never be able to do - however he knows his limitations and it doesn't stop him trying to keep up with everyone else - long may this last!
Action Duchenne is a company and charity that was set up in the UK
by parents, family members & supporters of young people with DMD
who demanded that a cure or viable long-term treatment is found. The
charity seeks to promote new research and clinical trials and also
maintains the DMD registry a UK national register of people with DMD
which is used to match trials with people. We are actively supporting
Action Duchenne by fundraising and raising their profile so that
Action Duchenne is elected by friends for future fundraising endeavours.
On a personal note, Action Duchenne have supported us through this very difficult year. Advocates Dean Widd and Vici Richardson were only a phonecall away (day and night) when we needed advice or just someone to listen to, who could personally understand exactly what we are going through. They helped us understand some of the issues surrounding this condition and helped to direct us in receiving the standards of care Logan should be receiving, which otherwise we may not have known. As there is no specialist centre in Scotland, standards of care can vary from region to region. Action Duchenne continue to lobby Scottish Parliament on an annual basis to raise issues such as the need for a Centre of Excellence in Scotland, grants for Housing adaptations and Standards of Care. Their positive attitude and determination has helped us tremendously to focus on the importance of fundraising and raising the profile of DMD - because if we don't fight for our boys no-one else will.
Dean Widd, Advocate for Scotland (pictured) will be representing Action Duchenne at our first event to present trophies and to receive the proceeds on behalf of Action Duchenne.
What is Duchenne Muscular Dystrophy (DMD)?
- DMD is a severe recessive X-linked form of muscular dystrophy characterised by rapid progression of muscle degeneration, eventually leading to paralysis and early death.
- DMD is a devastating disease - Children
begin to see their muscles waste away and families struggle to cope
with the diagnosis and day to day management of this condition.
- Young
men die early in late teens or are left wheelchair bound and unable to
move unaided.
- Duchenne muscular dystrophy is the most common fatal
genetic disorder diagnosed in childhood, affecting approximately 1 in
every 3,500 live male births.
- About 100 boys with DMD are born in the UK each year
- There are about 1500-2000 known boys the disorder living in the UK at any one time
- Because the Duchenne gene is found on the
X-chromosome, it primarily affects boys; however, it occurs across all
races and cultures.
- Duchenne
results in progressive loss of strength and is caused by a mutation in
the gene that encodes for dystrophin. Because dystrophin is absent,
the muscle cells are easily damaged. The progressive muscle weakness
leads to serious medical problems, particularly issues relating to the
heart and lungs.
- Young boys lose the ability to walk between the ages
of 9-12 and mortality is typically late teens/early twenties.
- Duchenne
can be passed from parent to child, but approximately 35% of cases
occur because of a random spontaneous mutation (in Logans case it
has been a spontaneous mutation). In other words, it can affect anyone.
- Although there are medical treatments (steroids and physiotherapy) that
may help slow its progression, there is currently no cure for
Duchenne. The hope for families lies in new treatments that can slow
or stop DMD in its tracks.
- New genetic research is underway in the UK to find ways of replacing or fixing the faulty dystrophin gene making, for the first time, the dream of a treatment for DMD a realistic possibility.