Patient care & support

Duchenne UK launch emergency app for Duchenne muscular dystrophy patients

When Amanda Iles’s 13-year-old son, Tomos-William, fell forward in his shower chair and said that he had hurt himself, she could not have imagined that this simple accident would lead to his death.  

Because of his underlying medical condition, Duchenne muscular dystrophy (DMD), Tomos was vulnerable to a complication called fat embolism syndrome (FES). Sadly, he passed away in A&E just hours later.  

Amanda always wonders now if his death could have been prevented if she had known the risks of FES, and if the medical team who treated Tomos knew that DMD patients shouldn’t be given excessive oxygen. 

Amanda and Tomos-William

That’s why Duchenne UK, the UK’s leading DMD charity, has launched a first-of-its-kind mobile app that could help to save DMD patients’ lives in medical emergencies.  The app is now available for iOS on the app store and Android on the Google Play store

As a rare disease affecting approximately 2,500 people in the UK, many medical practitioners will not have come across DMD in their careers. In accidents and emergencies, people with DMD need special medical treatment, and mistreatment can be dangerous. This means that parents and caregivers are responsible for remembering complex information about steroid dosages, anaesthetics and fracture risks, at a time when they are under stress.  

The Duchenne UK In Case of Emergency app was developed in response to this need, and aims to improve emergency care as part of the DMD Care UK project.  

It allows DMD patients and caregivers to fill in a profile with their/their child’s personal and medical needs and emergency contacts. In an accident or emergency, this profile, alongside guidance on treating DMD patients, can be emailed to a medical professional as a concise PDF. Crucial information can also be displayed on the users’ lock screen, so that first responders can access this without unlocking the phone. 

The app has been developed with input from patients, clinicians, and DMD experts. It complements the existing Duchenne Emergency website, which provides key information on treating the condition, and the Duchenne UK steroid wristbands which alert medical practitioners that the wearer is steroid dependent.  

Alex Johnson, Co-founder of Duchenne UK, said: “After the death of Amanda’s son, Duchenne UK wanted to do something to ensure that no family should suffer in the way that Amanda’s family did. I am constantly being contacted by families who are in A&E and who don’t know what to ask for for their sons. I hope this app will be used by everyone in the community and give them the guidance and comfort that they need.” 

Nick Catlin, Director and SEN Advisor at Decipha, said: Accidents or sudden serious illnesses are always a worry for DMD parents. The app helps to manage risks by making sure key medical information and expert advice is stored in one place and is up to date. It also means that carers and school staff have fast access to this information, which we recommend is included as an appendix to Education Health and Care Plans.” 

Duchenne UK is ambitious about the potential of the app to save lives in accidents and emergencies. By encouraging every DMD patient and caregiver in the UK to use the app, the charity hope to transform A&E care in DMD and prevent avoidable tragedies. 

For more guidance on emergencies in DMD, visit the Emergency Support section of the Duchenne UK website.  

The Duchenne UK In Case of Emergency app is available to download for free from the App Store or Google Play.  

Published on 8 March 2022

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Note 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 a shortened life expectancy. It almost exclusively affects boys. In the UK there are around 2,500 boys affected and around 300,000 worldwide. It is classified as a rare disease.

Who is 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 accelerate every stage of drug development. Together, we will find effective treatments for this generation of people living with DMD.

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. 

What is DMD Care UK?

DMD Care UK is a nationwide initiative to ensure every person living with Duchenne muscular dystrophy (DMD) in the UK has access to the best care, no matter where they live.

DMD Care UK is funded by Duchenne UK, Joining Jack and Duchenne Research Fund. They are working closely with the John Walton Muscular Dystrophy Research Centre in Newcastle and in collaboration with the North Star Network, funded by MDUK.

The project brings together expert clinicians and the patient community through working groups to agree, communicate and implement DMD standards of care recommendations for the UK. These are based on the international recommendations published in The Lancet Neurology in 2018.

Visit dmdcareuk.org to find out more.

How to donate

COVID-19 has caused a funding crisis in medical research. But we cannot, and will not, let it slow us down in our mission to find new and effective treatments for DMD. Because this generation of boys cannot wait. Donate now at duchenneuk.org/donate or text  DUCHENNE to 70085 to donate £5. (This costs £5 plus a std rate msg). Together, we will end Duchenne.

For more information visit  www.duchenneuk.org