The Midlands Rare Disease Showcase 2017

This Showcase review has been written by Dr Rick Thompson, Findacure’s Head of Research.

This week Findacure did something unusual, and slightly daring – no, not departing the South East! There is nothing daring about that, though we haven’t done it much of late. Rather, we held our first ever event on a Saturday, asking clinicians, patient groups, researchers, and industry representatives to give up part of their weekend to talk all things rare at Birmingham Children’s Hospital (BCH). Despite my initial trepidation, I’m pleased to report that we welcomed over 80 people to the event, to enjoy some excellent talks, fantastic exhibits, plentiful refreshment, and engaging conversation.

We arrived bright an early in the Main Outpatients department of BCH, and instantly began to supplement the colourful furniture with balloons, banners, and rare disease leaflets. We were happy to meet exhibitors from two of our event sponsors, as well as four different rare disease charities, including CDKL5 UKUnique – Understanding Chromosome DisordersRett UK and Myaware. The room was soon filling up nicely, and before we knew it, it was time to begin.

Programme and summaries

Dr Larissa Kerecuk - Rare Disease Lead, Birmingham Children's Hospital

The morning session opened with a talk from our co-host, Dr Larissa Kerecuk, the Rare Disease Lead at Birmingham Children’s Hospital. Larissa is developing the UK’s first paediatric rare disease centre, which aims to deliver a holistic model of care to children with rare diseases. This will include specialist nurses, access to a huge range of medical specialities, dedicated assistance in transitioning to adult treatment, and patient group interaction. The centre will be housed in a new building, designed in partnership with families affected by a rare disease. The centre should be open in early 2018, and could act as a new model for rare disease care in the UK.

Alastair Kent - Director, Genetic Alliance UK

After Larissa’s exciting talk, we were exceptionally pleased to welcome the Director of Genetic Alliance UK, Alastair Kent. Alastair shared his thoughts on the reality of rare diseases for patients in the UK today, before discussing the impact of Brexit on the rare disease world. Alastair in particular underlined the importance of diagnosis for patients, and the role that doctors play. While no one expects every doctor to recognise every rare disease, it is crucial that there is an increased awareness of when a doctor should stop repeating tests for a common illness, and begin to explore the possibility of a rare diagnosis.

 

Melanie Dillon - RaDaR Project Lead, UK Renal Registry

After Alastair, Melanie Dillon told us about the Renal Rare’s RaDaR project. This is an innovative online registry for rare kidney diseases, which is helping to drive both patient engagement and research in the field. Excitingly, this platform is in the early stages of being rolled out to rare disorders beyond the kidney, and could become a powerful tool for the whole community. After a fascinating first session, we broke for coffee, and to view the Expression of Hope exhibition – a collection of rare disease patient artwork.

Dr David Milford - Consultant Nephrologist, Birmingham Children's Hospital

After a short break, we returned for a more scientific session. First we heard from Dr David Milford, a consultant at BCH who told us about the rare disease aHUS, and the huge strides that have been made in the treatment of this condition in recent years. It now has a fully licenced treatment, available on the NHS.

Dr Cathy Quinlan - Consultant, Royal Children's Hospital, Melbourne

Next Dr Cathy Quinlan, who had travelled all the way from Australia, introduced the Kidney Genetics Collaborative. This is an academic collaboration across Australia that is designed to help drive diagnosis and research into rare genetic kidney disorders, and has led to some exciting work in the development of miniature organ disease models to test for new treatments.

Neil Dugdale - General Manager UK and Republic of Ireland, Sobi

Neil Dugdale, the General Manager of Sobi in the UK and Ireland, gave a talk on the role that patient engagement plays in the work of a pharmaceutical company.

Prof. Tim Barett - Director NIHR Clinical Research Facility, Birmingham Children's Hospital

After lunch our programme resumed with a talk on rare disease research run by the NIHR. Prof Tim Barrett discussed the work being done in diseases such as Wolfram and Alström syndromes, both of which have specialist centres and research projects based in BCH.

Kay Parkinson - CEO, Cambridge Rare Disease Network, and Director, Alstrom Europe

Tim was followed by Kay Parkinson, who gave a moving and personal account of her experiences as the mother of two children born with Alström syndrome, both of whom have now sadly passed away. Kay gave a real insight into the patient experience, and the drive and determination needed to obtain a diagnosis and secure treatment for a rare condition. Despite this she still found the energy to start a new patient organisation, which has made a huge difference in the rare disease community.

Jane Miles and Sophie Dziwinski - Roald Dahl’s Marvellous Children’s Charity

Our speaking programme was topped off by Jane Miles and Sophie Dziwinski, of the Roald Dahl’s Marvellous Children’s Charity, who discussed their work in funding specialist nurses for rare disease patients at BCH and beyond.

Lightning talk session

The whole speaking programme was inspiring, but that wasn’t the end. After a brief talk about Findacure from Mary Rose and myself, our audience moved to our networking room to enjoy food, drink, and conversation. During the networking session we delivered our usual programme of five minute lightning talks, all of which were proposed by the delegates themselves. This proved to be a great way to showcase even more work from the Birmingham area: we heard about the NIHR’s programme of patient engagement, the development of drug repurposing technologies, the life of a rare kidney disease patient, the importance of the 100,000 genomes project, and the necessity of good health communication.

If you want to watch the lightning talks, head over to the playlist on our YouTube channel.

As you can tell, it was a jam-packed day, and both Mary Rose and I had a great time. We want to thank all of our speakers, sponsors, and delegates for making it such a success. We’d also like to send special thanks to Dr Larissa Kerecuk for helping us to arrange the event, and her team of exceptional volunteers – we really couldn’t have done it without you guys.

We’re hoping that this will be the first of a number of showcase events that Findacure will run around the UK in the coming years. We want to take the rare disease conversation around the UK, and highlight some of the great work being done by patient groups, researchers, clinicians, and industry in the rare disease field. Our sights are currently set on Wales, so if you have any thoughts on projects that we could feature in the land of the red dragon, please let us know.