Dear Friends and Colleagues

On Sunday November 1^st I will be running the New York marathon together with a group of colleagues from PTC Therapeutics. I am hoping to raise money for Action Duchenne, a UK based charity dedicated to supporting boys living with Duchenne Muscular Dystrophy (DMD).

I would be immensely grateful if you would sponsor me.

As some of you may know PTC has recently launched the first treatment that can help a small percentage of the boys with DMD whose condition is caused by one specific gene mutation. It does not cure, but may significantly slow down the rate of progression of the disease. Unfortunately though, for 90% of patients there is still no treatment. During the last year  I have worked closely with a number of the patient organizations and have been deeply moved by the dedication of the parents and volunteers and their tireless efforts to support the boys.

Duchenne Muscular Dystrophy is the most common fatal genetic disorder diagnosed in childhood. It affects approximately 25,000 people in Europe. The condition is caused by a mutation in the gene that encodes for dystrophin, a protein that acts like a spring to protect muscle fibers. The dystrophin gene is found on the X-chromosome and consequently DMD only affects boys, although it occurs across all races and cultures. Because dystrophin is absent all muscle cells become damaged and the progressive muscle weakness leads to serious medical problems. By their early teens most boys are unable to walk and in later life experience severe problems with the heart and lungs. Young men with Duchenne typically live into their late twenties although life expectancy is slowly improving as standards of care and knowledge about the condition increases and some men now may live into their 30’s and 40’s.

Please take a few minutes to look at this video which explains the hardship faced by families who live with Duchenne.

https://www.youtube.com/watch?v=GfP6qLk3Ol8

Action Duchenne is a UK charity with the objective of funding research to find a cure or viable treatments for Duchenne Muscular Dystrophy. The charity focuses on four main areas;

Cure: To change Duchenne into a treatable and manageable condition by producing, and delivering, a broad research strategy that seeks to find the cure or treatment for Duchenne or Becker  muscular dystrophy.

Influence:  To inform political debate in the fight to improve the quality of life for those living with Duchenne or Becker muscular dystrophy by changing attitudes in standards of care, healthcare professionals and to influence the bench to bed times for treatments for those suffering with rare conditions.

Empower:   To continue to provide education for those living with DMD, to provide specialist learning assessments and interventions to support young people, their families and schools and to increase attendance at the International Conferences.

Improve:   To make the DMD registry as the database of choice for pharma and clinicians by increasing the numbers of those registering on the database and to increase revenue from it.

With many thanks in anticipation of your support and generosity

Best Regards,