The awareness challenge
Rare diseases themselves aren’t all that rare. Whilst the definition of a rare disease is one which affects less than 1 in 2,000 people, collectively there are between 6,000 – 8,000 individual rare diseases.
Around 1 in 17 people will be affected by a rare disease at some point in their lives. In the UK, this amounts to about 3.5 million people which is more than the population of Birmingham, Liverpool, Nottingham and Sheffield combined.
The solution
We want to raise awareness of rare diseases as a first step towards tackling them and improving outcomes for the people and families affected by them.
Case studies
June’s story of sickle cell
June has sickle cell, a genetic blood disorder that affects the red blood cells. She is one of the 1 in 17 people with a rare disease in the UK.
My sons have taught me more than I could ever teach them
Bob Stevens is group CEO of the MPS Society and Rare Disease Research Partners. His sons Oliver and Samuel both have MPS II – known as Hunter Syndrome.
Diane walks to beat Primary Biliary Cholangitis (PBC)
Diane Reeves is a teacher in Solihull. She has Primary Biliary Cholangitis (PBC). It’s a rare, chronic and progressive autoimmune disease where the body attacks the bile ducts, causing damage to the liver. This is her story.
Alan and Ataxia: Explaining the lived experience of a rare disease
Alan Thomas from Wales is a patient advocate for rare diseases and Ataxia in particular. Known as ‘the rare disease warrior’; he founded the charity Ataxia and Me, which now has a global following. He campaigns around the world to raise awareness of the lived experience of having a rare condition. This is his story.
Shanali – I am not the illness, I am a person first
Shanali Perera lives with vasculitis, a rare autoimmune condition. She is an artist, educator and writer, having retired from her first career as a rheumatologist.
I don’t let Fabry stop me from doing what I want to do
Fabry disease is a rare disorder caused by an enzyme deficiency in the body. University of Southampton student Sebastiaan Van Dyck from Belgium describes his journey with Fabry disease and how he copes with the condition.
Rare bone disease can’t stop speedy Anna
Anna Turner from Waringstown, Northern Ireland, recently celebrated her 8th birthday with family and friends. She lives with a rare condition called hypophosphatasia (HPP). Anna and her mum Jenna told us about what HPP is and how it affects their family.
More than just cold hands
February is Raynaud’s awareness month. Physiotherapist and Parkinson’s dance teacher Liz Hooks has the condition and for her, a little kindness and the offer of some hot water would go a long way to help manage it.
Taking control: Inspiring others to beat rare diseases
Karen Owen lives with a condition called hereditary angioedema (HAE). She has learnt to take control of HAE through self-management techniques and peer support.
There’s nothing we can’t do or achieve, but people with thalassaemia need understanding and support
Thalassaemia major is a serious, genetic blood disorder. People with the condition cannot make enough haemoglobin in their red blood cells. Roanna Maharaj was diagnosed with a severe form of the disease as a baby in the Caribbean. This is her story.
Last modified: 22 March 2022
Last reviewed: 1 August 2022
Last modified: 29 February 2024
Last reviewed: 29 February 2024