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

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.

Read Diane's story in full

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.

Read Alan's story in full

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.

Read Shanali's story in full

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.

Read Sebastiaan's story in full

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.

Read Anna's story in full

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.

Read Liz's story in full

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.

Read Karen's story in full

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.

Read Roanna's story in full

Last modified: 22 March 2022

Last reviewed: 1 August 2022