Rare Disease Day
Celebrated every year on the last day of February, Rare Disease Day is a campaign initiated by EURORDIS - Rare Diseases Europe.
In Europe, a rare disease is considered to affect 1 in 2,000 people in the population. There are over 6,000 confirmed rare diseases, and with better diagnostic tools available, the number is growing. Individual disease communities may be small, but together there are calculated to be around 30,000,000 people in Europe living with a rare disease.
People with rare diseases share a similar set of challenges:
- Lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis.
- The need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.
- Owing to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient-to-patient suffering from the same disease.
- Research needs to be international to ensure that experts, researchers, and clinicians are connected*
Here at Kingston Healthwatch, Jill Prawer, Engagement Officer (Enter & View), has an ultra-rare condition. Diseases are considered ultra-rare when they affect 1 : 50,000 of the population, however, Jill has Familial Chylomicronaemia Syndrome (FCS) which affects 1 to 2 : 1,000,000. This means that in the UK there are around 120 people with the condition! She founded a charity to support people with FCS in 2015, the first ever organisation for people affected by FCS in the world. You can read about FCS on the website of the charity Action FCS.
If you would like to learn more about Rare Disease Day and how to participate in celebrating the day, you can find more information here:
