Rare Diseases: What you need to know

Do you know what defines a rare disease? Or how many rare diseases there actually are in the world?

Approximately 1 of 20 people will be diagnosed with a rare disease sometime during their life. The majority of rare diseases don’t have cures, and they are often hard to diagnose.

It’s important to talk about rare diseases, and to raise awareness about them on a global scale. Today marks Rare Disease Day – a day when people and organizations all around the world work together to raise awareness about rare diseases.

What is a rare disease?

The definition of a rare disease depends on where in the world you are. In Europe, a rare disease is a disease that less than 1 in 2000 people live with. In the US, a rare disease is a disease that less than 200 000 people live with.

Because of these different definitions, how common a rare disease is can vary depending on where you live.

According to European researchers, there are more than 6000 rare diseases in the world. About 80% of these have genetic origins, and 50% affect children.

Diagnosing rare diseases is difficult

One of the biggest challenges with rare diseases is that they often have a wide range of different symptoms, and these symptoms can vary from person to person.

Since the symptoms can show in different combinations, and are in some cases unique to a particular individual, rare diseases are hard to diagnose. It’s common that rare diseases are misdiagnosed and take a long time to correctly diagnose. On average, a rare disease takes 4 to 5 years to diagnose correctly.

Research matters

Last year’s Rare Disease Day was all about research, and the theme carries over to this year’s Rare Disease Day too. Medical research is key in understanding rare diseases and find better ways to diagnose and treat them – and ultimately find cures.

We at Trialbee Health are proud to join this mission, and we hope that you will join too!

Read more:

Rare Disease Day

Rare Disease UK