Introducing and explaining rare diseases is a simple and complicated taks at the same time. It is easy in terms of statistics – a rare disease affects no more than 5 in 10 000 people in Europe. It sounds emotionless and reassuring because it seems like a distant threat that can not happen and therefore there is no need to think about this problem. Unfortunately, it is how the mass consciousness works.
But we should not blame and should not be mad at the people… because people… that is us. Each health issue deserves serious attention and understanding. Rare diseases require something more because of their specificity. Suddenly, out of the blue rare diseases come into people’s lives and from now on everything is different. Rare diseases mean everyday problems and challenges which people face all alone or only with the support of closest relatives. Since the medical science has no effective answers yet, the health system is not at all adapted and the society is committed to “more important” tasks.
Of course some people may ask, “Why rare diseases? Aren’t there more important issues to resolve?” Urgent problems will always exist but rare diseases have a very important nuance. It is the right and the reality to be different. From a genetic point of view, everyone has a unique combination of genes. Whether we will be tall or curly haired – it is not up to us, we are born this way and develop ourselves using what we have been primary given. Rare diseases occur in the same manner. Everyone is born with a certain number of “defective” genes that can not be changed. Whether at some point in life rare diseases will occur or not, no one can predict. But one thing is sure – no one is exempt from the possibility that it may happen to him/her.
Nevertheless, a person should not and can not be deprived of the most basic right – to be himself/herself, to dream, to seek and find happiness in life. Unfortunately, in Bulgaria the diagnosis of a rare disease is not only a stigma. It is an immediate end to the dreams of the affected and his/her family. This means missed talent and untapped potential both for the person and the society. It is reasonable to ask whether today everything has to rely on special and exceptional cases in order to have some positive changes, so people with rare diseases could receive equal opportunities and equal treatment like anyone else.
This year, on the 28th of February, people with rare diseases in Bulgaria will come together to mark again the Rare Disease Day. But it would be neither to remind all of us and the health system in particular how much we owe them. Nor to talk about the daily difficulties that they have to deal with. They would like to show that by virtue of chance, we are all different and have different personalities. Just like the nodes in the thread of the traditional martenitsa that people with rare diseases will bind on this day in Varna. Each node comes different and no two are alike. But in order to have a strong thread, all nodes must be tightly interconnected, no matter large or small, tight or loose, red or white thread. Ultimately we are all one thing and we can go forward only if we stand together and support each other.
Rare Disease Day would be marked on February 28 for a sixth time. The motto of the initiative this year is “Rare Diseases without Borders”. In Bulgaria, the organizers from the National Alliance of People with Rare Diseases will draw the public attention on the problems of rare diseases patients and on improving health care for rare diseases. A series of information, education and charity events will take place. On February 28 patients with rare diseases will fly balloons in front of the Ministry of Health in Sofia, followed by an official press conference. The Second Balkan Conference of Patients with Rare Diseases, entitled “Communication and Support to Patients, Based on Modern Technologies” will be held in April in Sofia. Besides Sofia, a series of rare diseases events will be organised throughout the county – Plovdiv, Varna, Burgas, Stara Zagora, Pleven and Sandanski.
For more information, please visit the official website of NAPRD (http://rare-bg.com/).