12th October 2020

• Duchenne UK’s mission is to End Duchenne, by funding and accelerating treatments
• We are also committed to ensuring that people living with Duchenne have access to the best support and treatments that are available now
• Together, Duchenne UK, Joining Jack and Duchenne Research Fund will invest £130,000 in to this project

Duchenne UK is pleased to announce the launch of DMD Care UK – a nationwide initiative to ensure everyone living with Duchenne has access to the best care.

Alex Johnson, our cofounder and CEO of Joining Jack, came up with the idea for the DMD Care UK project. She was concerned about the numbers of families contacting her, anxious that their children were not receiving the care that has been recommended internationally. These are known as the published Standards of Care (SoC). They were published in the Lancet in 2018.

Family versions of these guidelines were released last year. However, rather than providing patients with reassurance, they caused further anxiety because families realised that there was often a gap between what care was meant to be provided, and the care they were actually receiving.

So, together with Dr Michela Guglieri and Cathy Turner from Newcastle University, we created DMD Care UK, a £130,000 programme to bring together the leading DMD experts in the UK with the Duchenne Community to review the SoC and agree and publish recommendations for every area of care that can and should be delivered within the NHS.

We are working with the NorthStar Network, funded by MDUK, to make sure the recommendations are accessible to all patients, no matter where they live in the UK or what hospital they are seen at.

Because Duchenne is a complex disease and covers many areas of medicine, we will break down the project into various working groups such as bone care, cardiac care and endocrine care, which covers puberty, adrenal suppression and steroids.

Once the recommendations have been agreed upon, Duchenne UK will invest in creating leaflets, and webinars to make sure the community fully understands the recommendations. 

Alex Johnson, Cofounder of Duchenne UK said:

This discrepancy causes worry and confusion for patients and their families. A prime example is the SOC recommended patients start ace inhibitor by the age of 10 to protect the heart yet in reality many doctors and cardiologists and unwilling to prescribed until a problem occurs. That’s why we’re creating DMD Care UK – to make sure every Duchenne patient, no matter where they live in the UK, has access to the best care. 

Michela Guglieri, Senior Clinical Lecturer, Honorary Consultant Neurologist at Newcastle University, said:

Coping with the diagnosis of DMD is already hard for families and they should be reassured that in the UK they will receive the highest standards of care, wherever they live.  The 2018 published care recommendations include guidance which we know are not followed everywhere in the country - it is important to reach a national agreement about the best medical thinking and ensure that this is delivered to each child, young adult and man with DMD.

Cathy Turner, Duchenne Care UK Project Manager, said:

This is such an important project. The Standards of Care that were published were mainly written with a view to the US health market. What we’ve done is to look at what the NHS is realistically able to deliver and make sure that this is available equally throughout the UK. We’ll look at all aspects of Duchenne care. Where we need more evidence, we will carry out research. Where we need to raise awareness, we will support education and training.

In the next few weeks, we’ll be sharing the first of these recommendations with Dr Jarod Wong from Glasgow, who will be publishing guidelines for endocrine, puberty and steroid dosing and adrenal crisis management.

Please watch our film to learn more:

The working groups are: 

• Diagnosis
• Cardiac, including female carrier screening
• Respiratory
• Bone
• Endocrine/puberty
• Steroid dosing and adrenal crisis management
• Physiotherapy and rehabilitation
• Orthopaedics and surgery
• Emergency care
• Nutrition and gastrointestinal management
• Psychosocial care
• Transition to adult care

For more information, please visit dmdcareuk.org 

If you need any help, please email [email protected]

We would like to thank our charity partner, Duchenne Research Fund, and family funds for contributing to this project: Joining Jack, Team Oscar, Defending William Against Duchenne, Hope for Gabriel, Help Harry, Ben vs Duchenne, and Team Felix. 

NOTES FOR EDITORS

What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

Who are Duchenne UK?

Duchenne UK has one clear aim – to end Duchenne, a devastating muscle-wasting disease. As the leading Duchenne charity in the UK, we connect the best researchers with industry, the NHS and families to challenge every stage of drug development to make the incurable, curable. Together, we will find treatments and cures for this generation of patients with Duchenne.

Our president is HRH The Duchess of Cornwall. Our patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

We need your help, because we need to keep funding promising new research.

How to donate?

Duchenne UK is entirely reliant on donations to fund research for treatments and a cure to DMD. This can be done via:

• Direct Debit – Duchenne Direct
• Individual Donation – Donate
• If you are a family or friend affected by DMD you can set up your own fund with Duchenne UK – Family and Friend Funds
• Take part in one of our fundraising events – Events
• Text DUCHENNE to 70085 to donate £5. This costs £5 plus a std rate msg.

For more information visit www.duchenneuk.org