Hi All,

Some of you may remember me running the London Marathon last year for Muscular Dystrophy UK. This year, I’m tackling the Great North Run for Cure DM – a charity which I’m a trustee for.

For those of you that don’t know, my son was born with a rare genetic condition called Congenital Myotonic Dystrophy (congenital meaning symptoms are present from birth). We soon then discovered that my wife has adult-onset Myotonic Dystrophy (generally meaning much milder symptoms and developed in adulthood).

Myotonic Dystrophy is the most common form of Muscular Dystrophy, with around 1 in 2100 estimated to have it globally. Despite this, mild symptoms can go under the radar through generations, and only manifest when a baby is born with the congenital form. This is exactly the case for my family. There is no cure or effective treatment, management is the only option right now.

Symptoms of Myotonic Dystrophy vary significantly from person to person and age on on-set but can include low muscle tone, speech and other cognitive delays, respiratory weakness, myotonia (delayed muscle release – almost like your muscles cramping), heart complications and fatigue. Again, the presence of and severity of these symptoms vary significantly, but in most cases will progress over time, at different rates.

Louie spent nearly 3 months in hospital from birth, requiring invasive breathing assistance and was tube fed for 4 months. Fast forward 2 years and Louie has come on leaps and bounds, and is developing at his own rate.

Recent interest and developments in the medical and scientific community have led to a number of potentially exciting therapeutic treatment options that are currently in human clinical trials. Despite this hope, there is a significant need to support the community affected by this condition, which can have devastating consequences for families.

Cure DM is dedicated to providing support to those living with Myotonic Dystrophy, their families and caregivers. We do this by organising an annual 'Families Day' get-together in July each year, as well as smaller mid year events, such as trips to 'Disney on Ice'...

We facilitate research into DM, and are deeply involved from clinical trial design to representing the DM community to the regulators. We support and fund research in many forms, and publish up to date medical and treatment pipelines, ensuring accurate and up to date infomration reaches the community!

We are also passionate about raising awareness, within the scientific and medical community via information sheets, posters and guidelines, and also to the community and public. We are extremely proud of the part we played in organising the annual DM Awareneness day, which is a worldwide campaign on September 15th each year.

If you are able to donate to Cure DM (big or small) it would be very much appreciated!

Many thanks

Liam