Monday 20th January 2020 is not a particularly memorable date but for the rare disease community it could be.
On this day Kay Parkinson, supported as always by her husband John, presented their story for the last time.
This is a story of how a rare disease can affect a family and how it can change their world for ever. It has inspired so many people because it is all about love, about parents never giving up and despite personal tragedy continuing to make a positive difference so others should not have to suffer the same experience.
This story has been presented at many rare disease congresses over the years. One of the reasons it is so powerful, is simply because it completely resonates with so many people affected by a rare disease.
There are approximately 8,000 rare diseases. Only a minority have a successful treatment. A rare disease may affect thousands of people or may only affect one person. Collectively rare diseases are estimated to affect three million people in the United Kingdom alone.
There is so much work to do to raise awareness, to ensure successful diagnosis rates are vastly improved. The families and rare communities all hope that many more successful treatments are developed and that they are all accessible.
This work is happening and is growing, but so much more still needs to be done. Kay is simply an inspiration. This video is a tribute to her husband John, their children Matthew and Charlotte and ultimately to Kay, an amazing lady who has never given up and whose story through this video will hopefully continue to inspire for generations to come.
This video has been supported by Sobi and created by Bmore group.
To mark Rare Diseases Day on Thursday Leigh meets Jo Balfour from the Cambridge Rare Diseases Network, Dr Thomas Hiemstra from the University of Cambridge Clinical Trials Unit and Allison who co-founded the patient support group Ring20 Research and Support UK after her son was diagnosed with the rare disease.
Listen to the podcast here.