Passing the mic to the Pompe community – giving patients with rare diseases a voice through projects like Pompe & Circumstance

On 23rdFebruary 2022, Sanofi hosted a special event at Abbey Road Studios to celebrate Rare Disease Day. More than 30 people living with and working in rare diseases came together to record a new version of Elgar’s Pomp and Circumstance in Studio 2, the studio made famous by both Elgar and the Beatles.

The Sanofi Rare Disease team wanted to create something that would inspire involvement and connection and they struck upon the idea of music and re-creating Elgar’s Pomp and Circumstance.

Pompe disease is a rare genetic disorder that causes complex sugars to build up in the body, damaging the heart, diaphragm, and skeletal muscles, leading to progressive muscle weakness and breathing difficulties.1 Pompe is a progressive disease and most people will require mechanical breathing support and a wheelchair eventually, although the disease progresses differently for everyone.

While only 1 in 40,000 people in the UK have Pompe disease,2 1 in 17 people are living with a rare disease.3 People with a rare disease might see five different doctors and be misdiagnosed three times before they get the diagnosis they need.3 These challenges are mirrored in Pompe disease, where people may wait 7 to 9 years to get a diagnosis.4

Inviting world-famous voice coaches Carrie and David Grant to host the event and produce the song made the day even more special. 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 the new lyrics to reflect their own experience of Pompe disease.

Singing is a powerful way to bring people together and there are lots of studies that show that music can have a profound influence on health and wellbeing. It’s been so inspiring to work with people who face so many challenges getting a diagnosis and still come out smiling.

David Grant, MBE

Many people with rare diseases have faced years, sometimes decades, trying to find out what’s wrong with them and at Sanofi we are determined to change that.

Cutting the time to diagnosis and treatment is vital and we are not only raising awareness through events, patient stories and social media, 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

We are 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.

I wasn’t diagnosed with Pompe disease until I was 31, but I think I first started getting symptoms when I was 13. I sometimes find it hard to breathe, tie my laces and when I’m lying in bed, I feel really short of breath. I often fall over, so people must think I’m drunk. I’ve loved being part of this project, I love singing and it’s wonderful to spend time with the community.

Gemma Seyfang, Patient with Pompe Disease

Watch the films to find out more about the project:

Pompe & Circumstance feature film

Pompe & Circumstance final song

Job bag number: MAT-XU-2200606 (v1.0)
Date of Preparation: April 2022