On Thursday last week, we attended the launch event for the Cambridge Rare Disease Network at the Judge Business School in Cambridge. Our very own Nick Sireau spoke at the launch, as did several of the network’s other founding members.
The Cambridge Rare Disease Network
As many of you know, the AKU Society office is based in Cambridge. We were therefore delighted to be a part of the launch event for the Cambridge Rare Disease Network (CRDN). The network has been formed by several different individuals, and has support from a variety of organisations. It is a non-profit organisation which aims to create rare disease awareness, and build a community within the Cambridge area.
Tim Guillams, one of the founding directors of the CRDN, hosted the event. He is also the Chief Executive Officer of Healx, a social enterprise working to find new therapeutic solutions to cure patients with rare diseases. First to speak and welcome us to the event was Abbi Signs, who is also a founding member of the CRDN.
Abbi made it very clear why the CRDN is so crucial. When viewed individually, rare diseases seem to impact on just a small number of people. This small group often lack the voice and resources to make a big impact.
However, when rare diseases are viewed together they are an unmistakably huge issue. 1 in 17 people, or 3.5 million people in the UK will develop a rare disease in their lifetime. This is a huge number of people, and when these people work together, they can make a big difference.
The Patient Group Story
Nick was the first of the main speakers, and started his talk by outlining the story of how he got involved with the AKU Society after his two sons were diagnosed with the disease. We have come a long way at the AKU Society- Nick pointed out that just 14 years ago they only knew of 4 patients. Now we have identified around 1000 globally, and we have a promising drug being tested in a final stage clinical trial.
He presented our work at the AKU Society as a model for how other rare disease groups can be successful, and work towards supporting patients, finding a potential treatment, and running a clinical trial in partnership with industry. Nick then introduced the work of Findacure– a charity he co-founded to provide support and training to small patient groups.
Kay Parkinson spoke next about her experience setting up Alstrom Syndrome UK (ASUK). This patient group supports families affected by Alstrom Syndrome- a disease which killed her own two children. She told her story of the constant struggle to get a diagnosis for her children, and the lack of support and information for those with a rare disease.
Setting up ASUK was her way to start building this support network for patients and their families, and now she is passionate about doing the same in the wider rare disease community. She has also set up a European society for Alstrom Syndrome, and is a big advocate for rare disease patients across Europe.
Encouraging Drug Development
Dr Cesare Spadoni spoke to us next about his transition from being a drug developer, to becoming a parent. Dr Spadoni’s child unfortunately died from childhood cancer, and despite working in the drug development industry, he felt powerless to help her. Over 250 children die from these rare forms of cancer each year. Drugs used in adults are often not effective for childhood cancers, and more research is needed.
He knew he could not continue to do nothing, and so after the loss of his child he decided to begin working to help other children with cancer. He has now set up the aPODD Foundation, which hopes to facilitate the testing of drugs for effectiveness in childhood cancers by improving preclinical development of drugs.
Continuing Progress
Alastair Kent, the director of Genetic Alliance UK, ended the day with an inspirational speech about how far we have come in the last 60 years when it comes to identifying and treating rare diseases. Not only do we have fantastic support networks, and access to information thanks to the internet- we also now have the technology to sequence an entire genome and study the genetics of disease. If we work together we can use this new technology to benefit rare disease patients everywhere.
One message was consistent throughout the evening- as patient organisations, we have a vital need to partner with industry to facilitate the discovery of effective drugs for rare diseases. We also need to break down the barriers between different medical specialists and get doctors talking in order to tackle these rare, multisystem diseases.
Hopefully through the Cambridge Rare Disease Network, these kind of partnerships can be encouraged, and more discussion around rare disease will be possible. Working together we can ensure rare diseases continue to be noticed and taken seriously.