Whilst the diagnosis of a condition, is difficult for every patient and their family, the diagnosis of a rare disease has significantly greater challenges. On average, it takes patients with rare diseases, five years to gain the correct diagnosis. During this time, they will likely be routed through numerous different specialties, undergoing a variety of different diagnostic tests and likely will struggle to find information and support.

For the second year, Cambridge Healthcare Research has been proud to sponsor Findacure’s national rare disease showcases in Cambridge and Manchester in August 2019. Findacure is an amazing organization, whose work includes supporting patient and caregiver led charities. More often than not, these charities are founded by people affected by rare diseases, who have they and their family fall into a gap in the existing support and information available.

At the showcase in Cambridge last summer, we enjoyed talking with patients, caregivers and those involved in rare diseases through their research or role in supporting patients. The event included kick fire presentations covering the length and breadth of rare disease challenges from the NIHR’s BioResource for Translational Research to Aparito’s wearable devices. Katy Baker’s presentation, on the mental health challenges she faces, living with Scimitar Syndrome, was a powerful reminder of the real-life impact of rare diseases and why we work in this industry. Katy is a hugely inspirational person, and is now using her experiences, to support others, through her role as Vice-President Welfare at Northampton Students’ Union.

We look forward to continuing to work in rare diseases and supporting fantastic charities such as Findacure.