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.
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.
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.
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.
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.
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.
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.