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RAREfest20: A Cambridge community offers new hope on rare diseases



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RAREfest20 art exhibition included this portrait by photographer Jordan Mossom
RAREfest20 art exhibition included this portrait by photographer Jordan Mossom

RAREfest20, a scientific, educational and community-centric event, went virtual this year, providing a vast jamboree of opportunities and insights for a community that is burgeoning as no other – and demonstrating that its sharing, multi-disciplinary networking format works perfectly well online.

The rare disease community has traditionally felt under siege: diagnoses were late or non-existent, the bureaucracy cruel, the support networks almost non-existent, the chances of cures close to zero. But the arrival of the genomic cavalry has changed everything – not just the science and healthcare outcomes, but the whole conversation. And nothing proved it like RAREfest20, which had the busiest - at times virtually overwhelmingly so - online offering with everything from a lobby, video vault, film gallery, plus an information desk, exhibit hall, talks, resources section. In the networking spaces were18 chatrooms with options for live chats with organisations such as DNA Doctor, the Wellcome Genome Campus and Microsoft Research Lab Cambridge.

At this second RAREfest – the first was in 2018 – one of the big issues that emerged at RAREfest20 is the diagnosis process: should an early diagnosis be made, even if it’s traumatic to hear just a couple of weeks after the arrival of your newborn? Never underestimate the power of a diagnosis, seemed to be the message of ‘Journey of Hope’, which included emotive testimony from parents including Tom Almeroth-Williams, whose daughter Julia has Wolf-Hirschhorn syndrome. At the other end of the scale, the wait for a diagnosis goes on: causative genes more than half of rare diseases remain undiscovered, leaving one of the afternoon speakers was “still wondering if medical science would ever catch up with the disease our child has”.

One of the reasons may be that there aren’t that many clinicians able to make a diagnosis, as Dr Richard Scott, clinical lead for rare disease at Great Ormond Street Hospital and Genomics England One, pointed out. Introducing a video, ‘Reducing the Diagnostic Odyssey’, Dr Scott explained that he is one of just 200 clinical geneticists in the UK.

“The answer to the problem isn’t about 200, or 300, or 400 clinical geneticists,” Dr Scott added. “It’s about the whole system working to recognise that rare disease is a major group of disease that we need to be set up across healthcare to recognise, diagnose and treat.”

Tom Almeroth-Williams with wife Helène Almeroth-Williams and daughter Julia. Picture: Ceridwen Hughes/Same but Different
Tom Almeroth-Williams with wife Helène Almeroth-Williams and daughter Julia. Picture: Ceridwen Hughes/Same but Different

There are bittersweet moments: one child waited years for a diagnosis. When it came, said one of the researchers, “it was sad that he didn’t get diagnosed early enough, but fantastic he got diagnosed when he did.”

Meanwhile the Yellow Brick Road project, a charitable foundation whose mission is to fund research to identify, understand, treat, and ultimately cure those impacted by HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2) mutations, was proving a big RAREfest20 draw.

“The mission of the Yellow Brick Road project is to reach families all across the globe,” said one of the charity’s representatives at RAREfest20. “We need every family, every child experiencing this. We have to be together.”

Their RAREfest contribution focused on the community – from researchers to families.

“We’re so blessed and fortunate that this is the group we’ve landed in because these people are on fire,” said one of the parents of a child with an HNRNPH2 disorder.

A researcher added: “We’re chipping away at a very big problem and providing the data and the foundation that others are going to be able to also build on so that we can drive research forward.”

The belief is strong in this community – a belief based not just because it now has the ear of the medical community, but also on the awareness that, together, they are an unstoppable force for positive change in every area of the life of a patient with a rare disease.

Mr Anthony Lander, pediatric surgeon at Birmingham Children’s Hospital. Picture: Ceridwen Hughes
Mr Anthony Lander, pediatric surgeon at Birmingham Children’s Hospital. Picture: Ceridwen Hughes

Many challenges remain. Anthony Lander, paediatric surgeon, Birmingham Children’s Hospital, contributed to a project created and produced by Same but Different, an organisation that uses the arts to give people with disabilities a stronger voice in their communities.

“The difficulty for us as surgeons is we don’t know how the system is going to behave when the patient has a rare condition,” said Mr Lander. “I have to try to follow what is happening to the patient and try to second guess what is going to happen.

“I have to take the parents and child along that journey with me, so they understand where I have got confident expectations of performance and where I don’t know how things are going to behave in relation to either surgery or medications that are given.

“The parents and child are very aware that there are no simple solutions. What they face must be an incredible challenge that we in the profession can’t really appreciate. We do not know what it is like to be on the other side, to be a parent or patient, with one of these unusual or difficult challenging conditions.”

But, thanks to RAREfest and organisers Cambridge Rare Disease Network, we’re starting to find out.

Amara, who has multiple rare disease complications, from the Beauty of Rare exhibition at RAREfest 2020. Picture: Ceridwen Hughes/Same But Different
Amara, who has multiple rare disease complications, from the Beauty of Rare exhibition at RAREfest 2020. Picture: Ceridwen Hughes/Same But Different

“It was such an amazing event,” said one attendee, Anna Todd. “So well organised. So much varied content. Really, really gripping, moving, exciting, inspiring, colourful, insightful and a million other thoughts and feelings.”

RAREfest20 organiser and Cambridge Rare Diseases Network managing director Jo Balfour said: “We had more than 1,000 registrations to the platform – 125 on the day and 875 in advance, with visitors from 30 countries including India, Nepal, the US, Costa Rica and Columbia.

“The 30 speakers included six young people aged 10 -23. There were were 21 exhibits from science, technology, advocacy and the arts, and 20 patient group posters and films.

“It’s so exciting to have such a diverse audience from across sectors, age groups and the world. We loved the interactive nature of the live talks, with the audience really getting involved.

“The demos, discussions, quizzes and performance from the rare youth groups were just brilliant. They’re our future and we hope they inspired others to be curious and passionate too. We encourage people to visit the RAREfest platform over the next month to explore the wealth of fascinating material available there.”

All live content was recorded and is loaded up to the platform until December 29.

“This unique ability to ‘prolong’ the event by keeping the platform open for visitors to keep coming back to watch talks, visit exhibits, and the film and poster gallery definitely beats a live event,” says Jo.

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