Publication date: 26 May 2021
What disease do you have? For many rare disease patients, that is not a simple question. For some, it could take many years to get an answer. For others, there never will be a clear diagnosis as they go through multiple referrals, inconclusive tests and sometimes erroneous classifications. As cited in the UK Rare Diseases Framework, getting patients diagnosed faster may be the key to better outcomes. Time is of the essence, as 50-70% of rare diseases affect children, and 30% of them may die before their fifth birthday. With an estimated 350 million people worldwide impacted by a rare disease, the problem is large, but mostly invisible. Rare diseases are under-treated because frequently medical providers don’t recognize what they are.