What is a rare disease? Posted by Justine Clarabut on 4 February, 2020

Defining what a rare disease is appears to be somewhat blurred

There is no single cut off number to consider a disease to be rare. According to Wikipedia, some definitions depend merely on the number of people living with a disease, whereas other definitions characterise factors such as the severity of the disease and whether there are adequate treatments.

The European Commission on Public Health defines rare diseases as “life-threatening or chronically debilitating which are of such low prevalence that special combined efforts are needed to address them”. And low prevalence is defined as generally meaning fewer than 1 in 2,000 people.[1]  Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.[2]

What causes rare diseases?

There are different causes of rare diseases. The majority (around 80%) are thought to be genetic. Others are non-genetic and are cases that just occur randomly. Researches are still not sure what the exact causes are.

At present, most rare diseases have no treatments. Research is making progress by looking at common themes and causes of disease that are related. Currently, treatment is mostly about supporting people with a rare condition and helping to improve their health. Research into this is supported by The National Institutes of Health (NIH)

So what can be done to support people with a rare disease

One of the hardest things about having a rare condition is that there is so little information for patients which can leave them feeling scared and alone. Unanswered questions such managing symptoms, thinking about the future, finding the right treatments and learning how to live with their disease can be overwhelming and frightening.

There are many charitable organisations set up for rare diseases providing support, help and finances to fund vital research. However, some diseases are not yet supported by a charity but quite often the nature and symptoms of the disease are covered under a wider umbrella of another organisation.

Rare Disease Day

Raising Awareness helps

This year Rare Disease Day falls on 29th Feburary – the rarest day of the year! It takes place on the last day of February every year, as this is a month known for having a ‘rare’ number of days. It is a day that helps to raise awareness for those suffering with a rare condition.

1 in 20 people will live with a rare disease at some point in their life. Increasing awareness of rare diseases improves knowledge for the general public and encourages decision makers to address the needs of those living with rare diseases [3]

Rare Disease UK works to raise the profile of rare diseases in the UK. They provide a united voice for patients and their families by understanding their experiences of living with a rare condition. Rare Disease UK’s works towards offering patients and their families a better quality of life, better health and to achieve lasting change for those affected by a rare disease.

Get involved and help raise awareness

Across the world, thousands of events are run by organisations and individuals to mark Rare Disease Day. Fundraising, workshops, competitions, conferences, walks, sporting events and so much more are all ways that you can get involved. Post on social media too to share with as many people as possible and let them know how you are supporting this important day. For more information on ways to get involved, click here

Running a Health Fair Event

You could also make your Awareness Day part of a Wellbeing Day! We have some great ideas of the type of wellbeing activities you and your organisation can get involved in.. take a look here

[1] https://en.wikipedia.org/wiki/Rare_disease#cite_note-BaldovinoMoliner2016-7
[2] https://en.wikipedia.org/wiki/Rare_disease
[3] https://www.rarediseaseday.org/article/what-is-rare-disease-day
https://www.raredisease.org.uk/what-is-a-rare-disease/ https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases