Rare Disease Day

1 in 17 people affected by a rare disease at some point in their lives

On the last day of February every year international Rare Disease Day (Rare Disease Day 2024) takes place. This year, it’s rare in itself as 2024 is a leap year so the last day of February is the 29th!

In the UK there is currently 3.5 million people living with a rare disease, with 300 million worldwide, which sounds like a lot of people, but there are a lot of rare diseases. Some diseases are so rare that they don’t even have a name yet. A condition is considered rare when it affects fewer than one in 2,000 people.

The symbol for Rare Disease Day is a zebra. Medical students have been taught for decades that, “when you hear hoofbeats behind you, don’t expect to see a zebra.” In other words, look for the more common and usual, not the surprising, diagnosis. However, Rare Disease Day wants to highlight that, “Sometimes when you hear hoofbeats, it really is a zebra.”  No two zebras have identical stripes just as no two people with a rare disease are the same. Fun fact: a group of zebras is called a “dazzle”.

It can be incredibly difficult to get a diagnosis if your symptoms simply don’t fit with any of the more common medical conditions. Frustratingly it can take a long time to pinpoint something unusual which can involve many referrals, medical appointments and tests. In addition, symptoms differ not only from disease to disease, but also from patient-to-patient suffering from the same disease.

Kate’s story

I have a rare condition called Friedrich’s Ataxia, it affects my mobility and speech as well as causing fatigue and it causes restrictions in my ability to carry out many day-to-day tasks. I first noticed I was becoming a bit wobbly in 2005  but it would take many visits to different doctors and neurologists for me to be referred to a specialist unit at the National Hospital for Neurology and Neurosurgery in London where they identified the problem. This was in 2012, a whole seven years after first reporting my issues and as it is a progressive condition, I could have been receiving treatment for all that time.

One doctor told me that, “some people are just like that”.

If you feel that there is something wrong, my advice to you would be to be persistent and do your own research where possible. One doctor told me that, “some people are just like that” which was very dismissive and unhelpful. Since my diagnosis I have found others with my condition on social media which has really helped and there is a charity, Ataxia UK, who have been brilliant at keeping me up to date with news and events for people who, like me, have some form of ataxia.

Sadly, due to lack of knowledge and funding for research many rare diseases don’t have a cure. Rare Disease Day is the opportunity to advocate for rare diseases at a local, national and international level to work towards a more inclusive society.

With one in 17 people affected by a rare disease at some point in their lives it is important to acknowledge this special day.