Rare Disease Day 2022

Today is Rare Disease Day - an international initiative to shine light on the individuals and families who live with a rare disease and to highlight that, together, living with a rare disease is not so rare, at all.

In order for people living with rare diseases, like Lewy body dementia (LBD) or spinal muscular atrophy (SMA), to have the best possible quality of life, they need early detection and diagnosis, equitable access to treatment and support, and care and equipment which is responsive to their changing needs. All of these things come about through better professional understanding of their conditions.

Neurology Academy believes that education and compassion together can bring about change for people with rare and challenging conditions, and we support Rare Disease Day and all those people living with, and affected by a rare disease.

We want to support healthcare professionals who are working to give the best possible services and care to people living with rare diseases, and enabling them to hear from individuals who have experience of those conditions is key. That's why a group of people who were family carers for loved ones with Lewy body dementia spoke at our recent Lewy body MasterClass, and why Portia, mother to Ezra who has type 1 SMA, explains the importance of different elements of the new paediatric pathway for spinal muscular atrophy.

We know that often, understanding of rare disease comes from misdiagnosis of something more prevalent. We aim to ensure that differential diagnoses is a core aspect of education around detection and diagnosis, and that red flags indicating another condition are clearly explained.

By supporting Parkinson's specialist nurses to detect red flags for differential diagnoses in Parkinson's through our Tailored Management Course, they can be confident in detecting rare diseases which might present similarly. For example, REM sleep behaviour disorder may be a red flag for Lewy body dementia, orthostatic hypotension may indicate multiple system atrophy (MSA), or early swallowing difficulties could suggest progressive supranuclear palsy (PSP).

We developed the SMA Basecamp after specialists in spinal muscular atrophy shared their concern over understanding of this rare condition, and highlighted the difference in outcomes and abilities that just one day can make in diagnosing an infant with SMA. Our next SMA Basecamp is this summer, but an hour's on demand webinar and both paediatric and adult pathways are all freely available right now to any who want to improve their knowledge of this rare disease.

Every year we expand our educational offerings to upskill more healthcare professionals and impact the lives of more people living with challenging and complex conditions. We are currently looking into expanding our material on rare diseases - if there is a particular disease area that you want to see improved education in, please get in touch.

We hope that, through providing education, encouragement and inspiration, things like early diagnosis and equitable access to treatment will become more common in rare diseases - and feeling misunderstood or unsupported will become the rare thing, instead.