Rare diseases (also called rare conditions) are individually rare, but collectively common and present unique challenges for patients, their families, and the wider healthcare community.
As a passionate advocate for patients and families with rare conditions, I believe it is crucial to raise awareness and foster understanding not just today but every day for the millions of people affected in the UK.
To understand the significance of Rare Disease Day, we must first understand what constitutes a rare condition.
A rare condition is any condition that affects less than 1 in 2,000 people. There are at least 7,000 rare conditions with more being discovered all the time through scientific progress. Rare conditions often pose complex diagnostic and treatment challenges.
Rare conditions include rare types of cancer such as childhood cancers, rare infectious diseases, and inherited conditions, such as cystic fibrosis and Duchenne muscular dystrophy.
Currently 3.5 million people in the UK live with a rare condition, and 80% of rare conditions are genetic, (the result of a change in an individual’s DNA sequence).
We all have changes in our DNA sequence and often these do not have any impact or effect, but sometimes these changes can result in rare genetic conditions. For some conditions we are unable to find the exact explanation in a person’s genetic code. Undiagnosed genetic conditions are called ‘syndromes without a name’, or SWAN for short.
Every RARE: One of the most difficult aspects of living with a rare condition is the sense of isolation experienced by patients and their families. The rarity of their conditions often means limited resources, both in terms of medical research and social support.
2024 brings hope for the rare conditions’ community as ground-breaking advances in research continue to unravel the mysteries surrounding rare conditions, through collaborations between researchers, healthcare professionals, and patient groups paving the way for innovative treatments, improved diagnostics, and a better understanding of the causes of rare conditions.
Rare Disease Day is not only a time for awareness but also an opportunity to empower patients. Let us unite in our commitment to understanding, supporting, and advocating for those affected by rare conditions.
By amplifying the patient voice, fostering research, and promoting policy changes, we can collectively strive towards a future where no one feels alone in their battle against the rare and extraordinary.
Together, we can make a difference and bring about positive change.