RAREfest20 to open windows into rare genetic disorders
RAREfest20 takes place virtually this year, as the successful event organised by Cambridge Rare Disease Network (CRDN) adapts the format - a place where researchers, sufferers, families and patient groups can meet and share information and stories - to the internet.
One in 17 people are affected by a rare disease at some point in their lives: around 50 per cent are children. There are around 8,000 rare diseases in the UK: such are the advances in medicine that many new treatments are being found - but nevertheless for the 3.5 million rare disease sufferers in the UK, and for many, their daily lives have changed little.
Indeed, patients with rare diseases tell the CRDN they have felt all but forgotten during 2020 - though, in the face of adversity, the bonds between families and carers within the rare disease community have been made stronger, says RAREfest organiser and CRDN operations manager Jo Balfour.
“Life is often difficult for families affected by rare disease but the recent pandemic has left many feeling forgotten and hopes of an early diagnosis, effective treatment and a cure out of their grasp,” says Jo. “Cambridge Rare Disease Network is putting them and the researchers, scientists, charities and companies who are working to improve their lives into the spotlight through RAREfest20. There will be fascinating talks, panel discussions, science, technology and arts exhibits, and plenty of opportunities to meet, mingle and ask the experts. It’s for experts, the curious, all ages, for everyone.”
The UK’s 2013 Strategy for Rare Diseases is due for review: a fresh strategy was due by the end of 2020, but much of the work on this has come to a standstill. The global pandemic has seen UK-wide research, clinical trials, funding and support slow to a crawl. Many clinical trials, including for rare neurological conditions, at Cambridge University Hospital Trust, and elsewhere, were stopped due to Covid-19.
The March 2020 roll-out of seven NHS Genomic Laboratory Hubs was halted. The results of the 100,000 Genome Project have also been delayed. Many patients and families are still waiting for the data that could lead to diagnosis and treatment. The AMRC (Advanced Medical Research Centre) reports that, alongside a drastic shortfall in charity-funded research, the knock-on impact on levels of private R&D investment will be sizeable.
As the community - along with many other communities - adapts to the new actualité, some have found virtual medical appointments challenging, while others say it has allowed them to meet multiple specialists in one meeting, something almost impossible in the ‘real’ world. With many rare disease patients shielding during lockdown, parents have not had the benefit of school ‘respite’ as a breather from caring responsibilities, but many say they have enjoyed a more relaxed family time.
Eilidh, age 10, from Cambridgeshire, has an extremely rare condition which comes with profound learning disabilities and metabolic issues. This meant she was in the ‘shielding’ category during lockdown. However, the experience has been largely positive, with a virtual hospital appointments giving them “the opportunity to have a specialist from the Evelina Children’s Hospital and a consultant from the local hospital in the ‘room’ at the same time, without having to leave the house!”.
CRDN organised special activity packs and ‘Covid-safe’ outings for the ‘Unique Feet’ group, which Eilidh and her brother are part of.
For mum, Vaila Morrison, the move online has been liberating. She can do freelance work and she and Eilidh’s dad can take part in more fun events, with childcare no longer an issue.
She says: “The rare community, disabled people and people with caring responsibilities, can be so isolated even in normal circumstances so it would be fantastic to see some of the digital opportunities continue for families like ours beyond this period. However, we are also very much looking forward to a time when we can get out and about again too.”
The climax to this strange and challenging year is RAREfest20, which aims to spark curiosity, challenge perceptions, showcase science, inspire innovation and give a voice to rare disease patients and their families. It is the only event bringing together all stakeholders alongside the public with the aim of educating, engaging and empowering people to challenge the status quo and put rare disease - the patients and the science - back on to the agenda.
The November 28 event is CRDN’s second international festival. Launched in 2018, it involves talks, demonstrations, films, exhibits and entertainment. Detailed biographies for the speakers are available here, and here is a list of exhibitors.