The charity Findacure recently organised a Rare Disease Showcase in Cambridge, and I attended as a representative of Pseudomyxoma Survivor. My only slight problem was that my badge simply said ‘Pseudomyxoma Survivor‘ so I had to keep explaining that I actually represented an organisation and wasn’t there as a lone survivor of a rare disease!
Findacure is a UK charity founded in 2012 in Cambridge, building the rare diseases community to drive research and development treatments. Their aim is to empower patient groups and to promote collaboration between rare disease stakeholders. They provided some interesting statistics. There are 7,000 rare diseases affecting 350 million people worldwide, but only around 400 of these have licensed treatments. In the UK approximately 3.5 million people live with a rare disease. A rare disease is defined by the EU as affecting fewer than 1 in 2,000 people (so I think we qualify!). The Showcase consisted of six lightning talks limited to five minutes each, with time in between for networking and refreshments.
Dr Rick Thompson, CEO of Findacure, provided a brief introduction to the charity and highlighted the importance of collaboration within the rare disease community. Patient groups, pharma, academia, clinicians, biotechs, consultancies and support services all have a vital role to play in improving patient care, and the rare disease field is far better served when all interest groups communicate and work together.
The next two (joint) speakers, Janet Bloor and Shelley Simmonds were from Action Duchenne. They are both parents of boys with Duchenne Muscular Dystrophy, one of the boys is four and has presented with the disease differently from all other known cases of DMD. As a result, he is considered rare even within rare and has been enrolled in the 100,000 Genomes Project. His mother is a keen advocate and fundraiser, not only for Duchenne but for all rare diseases, and stressed the message that it’s not just about her son anymore – it’s about ensuring progress for the whole community. You can listen to their presentation here – https://www.youtube.com/watch?v=rH5NJvIPvKw.
The next speaker was a representative from Costello Medical Consulting who spoke about the challenges of collecting evidence in rare diseases, and how to overcome them. As is common in rare diseases, small disease populations mean the amount of data available for a condition is often limited, meaning conventional methods of data collection don’t always work. One of the key issues she highlighted was that there is an urgent need for accelerated processes in rare diseases – collecting data and analysing it as quickly as possible.
The next speaker was amazing. At the age of two, he was incorrectly diagnosed with Ehlers-Danlos Syndrome and, following two years of genetic testing at Addenbrookes Hospital, was eventually diagnosed with Occipital Horn Syndrome at the end of last year. Occipital Horn Syndrome is incredibly rare, with only 20 known cases in the world, and to date, he is the only known patient in the UK. Makes PMP look commonplace! He provided an overview of Occipital Horn Syndrome, and the impact it has had on his life, including over 70 operations, continuous physical therapies, and having to leave his dream job. Among other activities, he currently works as a volunteer at Cambridge Rare Disease Network.
A frequent concern amongst rare disease patients is accessing treatments for their conditions, particularly when there is a drug available which has not yet been approved in the UK. This was addressed by the Global Business Development Manager at Mawdsley-Brooks, the penultimate presenter. He talked us through the guidance given to physicians when prescribing medicines, including licensed medicines, off label medicines, and named patient programmes. Under a named patient programme, a physician can request access to a medicine, on behalf of a patient, or group of patients, for a drug that has yet to be approved in their country of origin. Programmes like these are vital for rare disease patients, which, if approved, can allow them access to potentially lifesaving treatments.
The final talk came from a coordinator at the Imagine-ID study. She highlighted how intellectual disability is a common outcome amongst those with a rare mutation, but finding out the commonality for families affected by these conditions remains a challenge. As rare diseases most frequently affect children, Imagine-ID are working with parents to collect data, and have already recruited over 1,600 patients and parents for their study.
All very informative and in many cases moving. I had an interesting talk with someone who has set up a support group for the condition his son suffers from. He has benefited a great deal from the peer mentoring scheme offered by Findacure. This provides small patient groups with expert mentors in a year-long partnership to build the capacity of the mentee’s organisation. I wonder if this might be something that our organisation could consider applying for in the future, but perhaps we are too established (and successful).
I also discovered that there is a fairly new charity established in Cambridge. The Cambridge Rare Disease Network is working to build a regional community of people in Cambridgeshire to address the unmet needs of rare disease patients, their families and the professionals who work with them.
They do this through community activities, awareness raising events and closer collaborations with scientists and researchers developing new treatments. Cambridge, of course, has a huge biomedical research capacity which facilitates this kind of co-operation.
Findacure are holding another Rare Disease Showcase in Newcastle, a daylong event to celebrate and highlight rare disease projects taking place in Newcastle and the North East. The showcase will take place on Tuesday 31st October, from 10:00 to 16:30 at the Centre for Life, Newcastle. The day will feature talks on the latest developments taking place in the rare disease community and include an afternoon networking session where delegates can propose their own five-minute lightning talk. Maybe one of our members from the north east might be interested in attending?