Wednesday 28th February was Rare Disease Day. Unfortunately I’m struggling with fatigue so haven’t been able to write about it until now.
Rare Disease Day is such an important day for those of us with rare conditions. It’s aim is to raise awareness among decision makers and the general public about rare diseases and their impact on patients lives.
Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life.
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000
One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.
- 80% of rare diseases have identified genetic origins.
Mine are both caused by genetic mutations that are not inherited from my parents so are “de novo”.
The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also 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.
My parents were constantly fobbed off by our GP when I was born with them saying I was fine and there was nothing wrong with me with Social Services even being called as the doctors thought mum and dad were abusing me. Luckily in comparison with other rare patients my diagnosis was made fairly quickly and because of my incredible consultants we soon knew about my ataxia when it developed and I received the help I needed to make like easier as I slowly lose balance and coordination.
Although rare disease patients and their families face many challenges, enormous progress is being made every day.
The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.
The UK recently launched it’s “Strategy for Rare Diseases” something that is welcomed by us rare patients and something I will write about another day.
I think the most important thing is that rare diseases affect more people than you think. Individually a condition may be rare but collectively there are more of us than you realise but we will never stop raising awareness.
How Rare? 