Opinion/Formerly called “orphan diseases”, to specify that they did not yet have specific treatments, these are diseases very unknown to the general public and whose diagnoses are very difficult to establish because many of them are unknown to many medical doctors, but not to a scientific community which works constantly, and thanks to which, we know that there are more than 7,000 identified and named, which are the subject of constant research, with the aim of finding long-term treatments, not only in order to overcome the disease, but also to break down the barriers of stigmatization in particular by mobilizing expertise, to educate populations who are very often in a hurry to judge what they do not know, and that the miracles of science allow over time, not only to prove the existence, but also to help people try to understand a set of disabling situations which has nothing to do with what people are sometimes led to think, particularly regarding the fact of being the carrier of a disease that some people from experience prefer to call "disability" because there are not yet treatments for a good number of these disabling situations that only affect one person in 2000.
How is it that out of more than two thousand people, only one is affected? Coincidence of life? Maybe! But thanks to the miracles of science, we are today able to say what it is, and to give the necessary treatments even if they can last a lifetime, without however completely preventing certain patients from living like others, because over time, research evolves, and are more advanced in certain cases, thanks in particular to associative movements which finance certain research undertaken with a view to finding treatments in addition to supporting certain patients and their families, who do not always have the means to face such difficulties, which have a very significant moral and financial cost.
In countries that have very good referencing, from the first days of birth we can know thanks to a genetic test that a child carries a rare disease and monitor them continuously from early childhood; but since all countries do not proceed in the same way, perhaps due to lack of technical and financial means, the hypotheses which put forward mystical reasons are validated by populations whose ignorance sometimes seems to be trapped in dead-end solutions, to the point where certain patients and certain families cling to a particular cause which is not true. You only have to see how autistic children are stigmatized to realize the difficulties. And cases of diseases are numerous, particularly in Africa, even if certain studies show that it is a part of the world where there are fewer rare diseases, compared to other continents. But whether we are in Africa or elsewhere, stigmatization is recurrent, and it is very difficult to adapt to these types of sometimes hostile environments. Indeed, as long as we do not experience the situation of the other, we are often very eager to judge, and even give reasons that have nothing to do with what we think is the real reason, because of an ignorance sometimes ignorant of her own ignorance. Hence the importance of awareness, especially when people are faced with a reality that goes beyond the routine to which they are accustomed. The ongoing efforts of the scientific community and associative movements in favour of the fight against stigmatization and the support of sick people and their families in these difficult circumstances, make it possible to inform and raise awareness among the masses, the vast majority of whom are not yet aware of the existence of several of these disabling situations which very often push certain people to ask themselves what they have done to deserve such a fate? However, this is not a spell that was cast on a person. Even if many people will say the opposite, we do not always know the why of things, until the day when advances in the field of science, and efforts to raise awareness, allow us to better understand what we did not know, and that the miracles of scientific research allow us to tame in order to invalidate fortuitous and erroneous hypotheses based on a set of false beliefs.
Even if at the moment we cannot yet explain everything, there are nevertheless cases that can be scientifically explained by the scientific community. It is precisely thanks to these specialists who have a certain expertise in several rare chronic diseases that we are able to know what it is, and how to live with it; for example, sickle cell disease can be preventable, in particular through blood tests which allow risks to be assessed. If indeed the ability of certain people to perform miracles is always welcome in a world where everyone is called upon to contribute in order to bring well-being to others, the miracles produced by science for their part, need time to produce more perceptible achievements, through innovative treatments, and care by specialized organizations, and not by families who are mostly in conditions where they cannot afford such treatments, and even less obtain precise diagnoses than organizations specialized in rare diseases in particular can allow them to manage, without claiming to treat everything, and be able to solve everyone's problems.
Our ability to explain certain phenomena in life, whether scientifically or not, shows its limits when we are faced set of realities that sometimes force us to question the why of things. Circumstances of life that we cannot always justify for certain reasons or for others, because science needs the time and money to better understand and treat what is not known, and which gives rise to stigmatization, unhappiness and diagnostic wandering.
Stigma must end, so that those who are in a state of aggravated discomfort, particularly due to the ignorance of others, can have a peaceful existence despite everything. Indeed, not all countries have the same means to respond to certain problems, and to ensure monitoring which is costly, and which will require more support, both internal and external, in order to help us better understand what we do not know, and to silence as much as possible stigmatizations which have a share of responsibility in diagnostic errors, regardless of the fact that some patients may themselves choose to stay at home for years, without knowing that they suffer from a rare disease.
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