February 2020
RARE Revolution Magazine – Special Edition: Duchenne Muscular Dystrophy
Tracker Link: http://bit.ly/RR-DMDSpotlight
Full Edition Link: https://edition.pagesuite-professional.co.uk/html5/reader/production/default.aspx?pubname=&edid=1bf17222-0791-4a07-a262-4295837247c7
Shining a spotlight, an introduction to Duchenne muscular dystrophy: An overview of the genetics, diagnostics and health implications associated with DMD, setting the scene for this special edition.
‘A life worth living’ Jon Rey-Hastie is the CEO and Co-founder of the Duchenne muscular dystrophy charity, DMD Pathfinders, founded in 2014. He is also the filmmaker of A life worth living: Pushing the limits of Duchenne.
Striving for early intervention: A physician’s perspective.
Professor Andrea Vianello is the Chief Director at the Respiratory Pathophysiology Divison, University of Padua Medical Center, Northern Italy where he directly oversees the clinical care and management of respiratory health in patients with Duchenne muscular dystrophy.
Luca’s Story: Luca Buccella was diagnosed with Duchenne muscular dystrophy (DMD) when he was three years old. Three years later, his father founded the Parent Project in Italy- an association of patients and parents of children with muscular dystrophy who aim to support families and improve treatments, quality of life and long-term prospects for children and young people, through research, education, training and awareness.
Project HERCULES shows its strength for rare disease. Project Hercules is a shining example of what is truly possible when industry, and regulators join forces with patients and charities for a shared goal, and how great things can be achieved when they do.
Together – every step: Sally Hofmeister was born in the UK and studied English and German at Exter University. After attaining a BA, she relocated to Germany and has lived in or near Heidelberg for the last 43 years. She is now 67 years old. Her youngest son, Peter, has Duchenne muscular dystrophy.
Finding comfort in the face of adversity: Francoise Maric-Salama has a masters degree in politics and information (Sciences Po Paris) and is a board member of the French Muscular Dystrophy Associaiton (AFM-Telethon).
Working to improve the lives of those with neuromuscular diseases: Foreingen for muskelsyke (FFM) was established in 1981 by parents of children and adults with neuromuscular disorders (NMDs) as a national organisation for about 30 different hereditary neuromuscular diagnoses.
Paving the way: planning for a future with DMD. Sejal Thakrar is mum to nine-year-old Shiv, diagnosed with Duchenne muscular dystrophy (DMD) just after he turned three. Like any other child his age, Shiv loves video games and spending time with his friends and family, and is an avid Liverpool Football club supporter. He does not let DMD hold him back. Open here: https://edition.pagesuite-professional.co.uk/html5/reader/production/default.aspx?pubname=&edid=1bf17222-0791-4a07-a262-4295837247c7&pnum=31
The patient organisation making themselves heard in the world of clinical trials and drug development. Joaquim Brites is the President of the Portuguese Neuromuscular Disease Associaition, APN- a position he has held since 2012. He is married with two children, one son is 28 years old and has Duchenne muscular dystrophy (DMD). Joaquim explains how his association are making their mark on the medical community and how he believes times are changing. Open here:
Respiratory health in DMD; the organisation keeping the conversation going. Dr Marisol Montollo is the Scientific Director of Duchenne Parent Project Spain (DPPE) and Curator of the Patient Registry in Spain, promoting scientific research in Duchenne and Becker Muscular dystrophy. Open here:
Six in Ten with Nicoletta Madia – Duchenne Data Foundation. Nicola Madia has 12 years of experience in fundraising and communication for non-profit organisations. Find out all about her work for the Duchenne Community in our quick fire 6 in 10 questions article.
Duchenne in words and pictures: Coming to terms with a diagnosis of Duchenne is a difficult and emotional process for families as they grieve the lives they had dreamed of. These powerful pictures and stories are shared with us thanks to the families of Jenson, Jack and Carson and Same But Different photographer, Ceridwen Hughes.
