April 2022 • PharmaTimes Magazine • 16-17
// RARE DISEASE //
Famous crossing: Making a record was designed to change the tune around rare diseases
Come together
Abbey Road was the setting and music was the theme as the rare disease community convened to celebrate Rare Disease Day, raise awareness of Pompe disease and lay down a catchy tune
Sanofi recently hosted a special event at Abbey Road Studios to celebrate Rare Disease Day. The group of more than 30 people living with and working in the rare diseases area came together to record a new version of Elgar’s rousing classic ‘Pomp and Circumstance’.
Made famous by The Beatles, Studio 2 was also where Elgar first recorded Pomp and Circumstance 120 years ago.
Collaborators
Sanofi has been a proud supporter of Rare Disease Day since it was first established by the European Organisation of Rare Disorders (EURORDIS) in 2008.
This year Sanofi UK & IE decided it was time to bring the rare disease community together to celebrate Rare Disease Day. It was all with a view to meeting in person and creating something inspiring. Indeed, it felt fitting after such a difficult few years, particularly for people who may have been shielding for much of the pandemic.
The Rare Disease team knew that it wanted to create something that would strike a chord and get people involved. Elgar’s ‘Pomp and Circumstance’ seemed like a natural choice. Not only is it an inspiring piece of music, which speaks of hope and glory, but it also helped with the core objective for the project – shining a light on Pompe disease.
Pompe disease is a rare genetic disorder and causes complex sugars to build up in the body, damaging the heart, diaphragm and skeletal muscles, leading to progressive muscle weakness and breathing difficulties. Pompe is a progressive disease and most people will require mechanical breathing support and a wheelchair eventually, although the disease progresses differently for everyone.
Rare talent
Sanofi has a long heritage in rare disease, having first developed a successful treatment for Gaucher disease in 1984. This was followed by treatments for Fabry disease, Pompe disease and Mucopolysaccharidosis type 1.
While only 1 in 40,000 people in the UK have Pompe disease, 1 in 17 people are living with a rare disease. Furthermore, people with a rare disease might see five different doctors and be misdiagnosed three times before they get the diagnosis they need. These challenges are mirrored in Pompe disease, where people may wait seven to nine years to get a diagnosis.
Sanofi is committed to supporting patients and their families living with rare conditions – helping them live the best lives they can. Providing holistic support through events like the ‘Pompe and Circumstance’ recording is a vital part of that.
True voices
Patients weren’t the only ones at the historical studio. World-famous voice coaches Carrie and David Grant hosted the day and produced the song – making the day even more unforgettable. The rehearsals were conducted online with everyone on mute so there was a certain element of trepidation as everyone gathered on the day, unsure how the group would sound singing together.
The community wrote new lyrics to reflect their own experience of Pompe disease and it was very moving to hear it finally being sung with everyone together. There was a real energy in the room and it felt like something very special was being created.
In the groove: Apparently, singing together is good for the soul
‘The community wrote new lyrics to reflect their own experience of Pompe disease and it was very moving to hear it finally being sung’
Curiously, there are a whole host of studies suggesting that people who sing together as a group report a higher sense of well-being, meaningful connection and social inclusion than people who sing on their own. Singing together may release endorphins and oxytocin as well, and it’s also been linked to reductions in the stress hormone cortisol and increases in immunoglobulin A, potentially boosting the immune system.
The new version of ‘Pompe and Circumstance’ was first played on Carrie and David’s BBC Radio London Breakfast show on the Saturday just before Rare Disease Day and then again on various radio and television shows throughout Rare Disease Day. The team is also creating some films to capture the day that will be released in the run-up to International Pompe Day in April.
The experience felt like the start of something bigger for the rare disease arena – singing together not only feels good, it builds connections with people who may otherwise feel quite isolated.
Legendary singer and voice coach Carrie Grant and her husband, David, held the key (quite literally) to the production of ‘Pompe and Circumstance’
For the record
Many people with rare diseases have faced years – sometimes decades – of trying to find out what’s wrong with them and Sanofi is determined to change that.
Cutting the time to diagnosis and treatment is at the heart of this mission and Sanofi is not only raising awareness through events, patient stories and social media, but the Rare Disease Franchise has also invested in multinational disease registries.
These allow physicians to access clinical real-world evidence and information to identify unmet medical needs and make better decisions. Sanofi is hoping to use big data to help predict who may have a rare disease which has not yet been diagnosed, ultimately aiming to reduce waiting times for both diagnosis and treatment.
There is certainly a big role for data and technology to play in making a difference to patients. Technology will continue to boost diagnostic screening, provide patient support and facilitate communication and collaboration between patients, healthcare providers and researchers. These changes can make a real difference to helping to accelerate diagnosis and improve outcomes for patients with rare diseases.
Now that really is something to sing about.
Chorus line: The singers were raising awareness of Pompe disease