Rare Diseases Conference 2017 - Guest blog

The time has come for rare

This blog post was written by Rebecca Stewart of Rare Revolution on behalf of Congenica, sponsor of the Rare Disease Conference 2017.


With World Rare Disease Day on 28 February, it’s a busy time of year in the rare disease calendar. Events are numerous and there is no shortage of inspirational speakers and industry movers and shakers to enjoy. This was certainly the case for this year’s British Paediatric Surveillance Unit’s conference on the 27 February held in Birmingham Children’s Hospital.

Hosted by Richard Lynn of the BPSU and Larissa Kerecuk, Birmingham Children’s Hospital Rare Disease Lead, the day was packed with speakers, exhibitors and charity groups.

There were fascinating presentations on the future of drug repurposing by Dr Rick Thomson (Findacure), the progress in gene therapy, Dr Bobby Gaspar (Joint Research and Development Office, GOSH) and talks on clinical trials that were both inspirational and can give us great hope for the future.

The big messages from the day however, were all about the patients.

Birmingham Leading the Way

Birmingham Women’s and Children's NHS Foundation Trust Chief Executive Sarah-Jane Marsh, set the tone by laying out what is the cornerstone of their rare vision: with rare disease patients having a life-long relationship with their hospitals, rare disease centres must take a ‘whole family’ approach to care.

Birmingham Women's and Children's are leading the way by creating a new Rare Disease Centre that puts the patients at its core. The centre has been co-designed by patients to make it ‘their space’ with services that are at the patient’s convenience - not the clinic’s. The Chidlren's Hosptial was the first stand-alone children's hospital to receive an “outstanding” rating by the Care Quality Commission and this forward-thinking approach is something Sarah-Jane would like to see rolled out across the country.

But Dr Keracuk and her team at Birmingham Children’s Hospital are anything but complacent. There is still much to do with patients around the country still facing challenges in finding a diagnosis, coordinated care and access to good information and support. More collaboration is needed between clinicians, patients and support groups to improve access to services and to ensure research that matters to patients.

Dr Keracuk highlighted this in her own talk, and spoke of the importance of re-writing outdated text books to improve the quality of information available.

Birmingham Women’s and Children's NHS Foundation Trust Chief Executive Sarah-Jane Marsh said:

“The time has come for rare, and we must bring together the brightest minds in rare disease to ensure that what is good enough today is better tomorrow.”

The Future of Medicine

Alistair Kent OBE (Genetic Alliance) spoke passionately of his vision for the future of medicine. It was wonderful to hear Alistair so eloquently emphasise the impact of ‘no diagnosis’ on patients and families.

Without a diagnosis, there is no knowledge, no support, and families are disempowered and left to find their own way through.

With a diagnosis, families can take control, they have a starting point for finding support, therapies and research and can find others to share insights allowing them to predict and prepare for the future.

Alistair spoke of the importance of the NHS becoming more forward-thinking when it comes to multi-system disorders and that he sees a future where rare disease becomes the model for the future framework of the healthcare system.

Once again, the necessity of including patients in research was voiced, reminding those in the field that rare disease patients are not put here to give them “something to do” and quoting the very apt "Nihil de nobis, sine nobis" - Nothing for us, without us.

From a Young Person’s Point of View

Something very close to our hearts was Mohini Samani’s presentation highlighting the problems of research from a young person’s point of view. Mohini is 18 and part of the Young Person’s steering group at the National Institute of Health and Research.

Mohini spoke about the very un-child friendly reports and information available to children and young people; vast documents outlining research for children written in a way that is inaccessible to the very people it is about, needs to be redressed.  

Mohini is putting this right. She has been actively working with others to improve design and content for patient information in this area. She is also encouraging a change in the perception that research is a ‘burden’ for families. Mohini would like to see researchers work with families to share positive stories and asks them to; keep in touch with children and young people throughout the process, and ensure information disseminated is age appropriate.

A force for change

Alongside the power of patients came strong messages of collaboration. Kay Parkinson (Cambridge Rare Disease Network and Alstrom Europe) told the moving story of her own family’s struggle and the eventual loss of her two children to Alstom syndrome and how this drives her to become a force for change.

Kay, alongside Sanjay Patel and Owen Vaughan (Prometic), outlined how their collaboration resulted in a drug trial for Alstrom Syndrome.

It was after a chance meeting in 2013 at the World Orphan Drug Conference in Geneva with Pierre Laurin (Prometic) that the possibility of trialling a drug Prometic had already developed, to improve fibrosis of organs in patients with Alstrom became a reality. Trials began in 2015 and are ongoing in phase 2 of the study (proof of concept). Recruitment for this trial is still open.

Sanjay Patel spoke of finding ways of matching drug development with orphan diseases so that chance meetings aren’t the only way to find drugs for patients.

Congenica, one of the companies sponsoring the Rare Disease Conference 2017, is working with NHS partners to support research and drug development for rare disease. The company is a genome interpretation partner for Genomics England 100K Genomes Project. The work done by Congenica in building a knowledge base will help faster and more accurate diagnostics for patients with rare disease. An early diagnosis is essential to give patients access to support, therapies and research and allows a path forward for families.

Somewhere inside us all

It was clear form this conference that rare disease professionals are heady with the excitement of the future and its possibilities, but that at the root of it all, more must be done to recognise the patients in all of it.

With many patient champions leading the way and by adopting "Nihil de nobis, sine nobis" as an approach in all we do, I am confident this too will continue to improve. After all, as Dr Keracuk put so well:

“Somewhere inside us all is the power to change the world.”

Rebecca Stewart of Rare Revolution on behalf of Congenica

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