This 28 February, we are proud to support our society partner, The National Organization for Rare Disorders (NORD) and #RareDiseaseDay by shining a spotlight on some of the challenges faced by those living with and managing rare diseases.
To start, we recommend watching our recent video interview with Lisa Sarfaty (NORD’s Vice President of Community Engagement), which explores how to address inequities for those living with a rare condition.
Lisa Sarfaty: Exploring and addressing inequities in rare diseases
We then recommend delving into some of the realities of a rare diagnosis with our interviews documenting personal experiences of living with a rare condition.
Ethan Crough Living with achondroplasia – Celebrating diversity and increasing awareness
Megan Hunter Living with myasthenia gravis – A journey to diagnosis
Shekita Green Living with neuromyelitis optica spectrum disorder – A patient’s perspective
It’s also vital to address the challenges rare diseases pose to healthcare professionals, particularly in diagnosis and management. Learn more from these leading experts as they explore various rare diseases.
Dr Spero R Cataland Acquired/immune TTP – Risks, complications and the impact on daily life
Prof. Jackie Palace Improving diagnosis and treatment of neuromyelitis optica spectrum disorder
Dr Richard Keen Rare bone diseases – Diagnosis, management and patient quality of life
Prof. Said Beydoun Understanding myasthenia gravis and the impact on patients’ quality of life
Prof. Damara Ortiz The impact of Pompe disease and the importance of newborn screening
Finally, we would like to say a huge thank you to everyone who took the time to speak with us. We hope that by sharing our conversations, we can continue our work to support the rare disease community by increasing awareness and improving understanding.
To learn more about how you can support Rare Disease Day, watch:
Lisa Sarfaty: Help support Rare Disease Day
You’ll find further information here: rarediseaseday.org
