“Rare diseases and prevention of disability” is the theme of the meeting held this Saturday, at the initiative of the Alliance of rare diseases in Morocco, on the occasion of the International Day of Rare Diseases.
This Sunday (February 28) is the International Rare Disease Day. These diseases, formerly called orphan diseases, pose a great challenge all over the world because of the difficulty of their diagnosis and the need for their management due to their great diversity.
On this occasion, the Alliance of rare diseases in Morocco (AMRM) is organizing on Saturday February 27, in partnership with the Roche, Jansen and Laprophan laboratories, the Maghreb Forum on the theme “Rare diseases and prevention of disability”. This meeting, which will be held in the form of a webinar, aims to raise awareness among the medical profession about rare diseases and to draw the attention of the general public and decision-makers to these diseases and in particular to the handicap they cause.
“A disease is considered rare when it affects less than one in 2,000 people. However, their large number, nearly 8,000 identified diseases, means that the total number of people affected is high: 1 in 20 people at least or about 1.5 million in Morocco, for example. A doctor encounters this type of pathology more in his daily practice than with cancer or diabetes! ”, Underlines Dr Khadija Moussayer, president of the Alliance for rare diseases in Morocco.
It should be remembered that certain rare diseases are of autoimmune origin, ie those where the immune system supposed to protect us from external attacks (bacteria, viruses, etc.) turns against the body. Mention will thus be made of vasculitis which attack the walls of blood vessels, scleroderma manifesting itself in particular by hardening of the skin and cryoglobulinemia due to abnormal proteins which precipitate in the blood in the cold and damage all organs. The president of AMRM also indicated that in the Maghreb, despite major efforts made in recent years to better manage them, these diseases still pose a real public health problem due to lack of screening, insufficient specialized care centers and the unavailability of many drugs. “Living with a rare disease is very often a difficult obstacle course for the patient and his family. In addition, for lack of a diagnosis and appropriate care, a large number of patients see their condition deteriorate and suffer from a handicap in their daily life or completely lose their autonomy. Disability can be motor with loss of mobility function or functional with loss of function of an important organ: heart, kidney or liver or even the lungs ”, explains Ms. Moussayer. “The result for the sick and their families is unbearable isolation in a grueling obstacle course. It commonly takes two to ten years for a diagnosis to be made and, if necessary, for appropriate treatment to be given. Moreover, a large number of patients, never diagnosed, are treated only on the basis of the expression of their symptoms, ”added the president of the AMRM.
However, we can limit the damage caused by these diseases thanks to innovative therapies which replace missing substances, in particular enzymes or a defective gene. Systematic newborn screening for all newborns, which unfortunately has not yet been implemented in Morocco, is also crucial in the fight against certain rare diseases. This would make it possible to avoid a certain handicap in the absence of treatment: this is the case for congenital hypothyroidism or phenylketonuria with avoidable consequences thanks respectively to inexpensive treatment and an adequate diet. “Diagnostic tests, particularly in genetic and biological matters, as well as new treatments exist. These means are difficult to obtain, because they are sometimes expensive or not well known, while their benefit is significant in the long term: adequate therapy will always be less expensive than unsuitable treatments for life or than the medical nomadism of disoriented patients! ”, Deplores Dr Moussayer. “It is for all these reasons that rare diseases need to be recognized in Morocco as a public health priority which, following the example of European countries, is part of a national plan for rare diseases. This would formulate the objectives and the measures to be taken, in particular in the fields of training and patient guidance with the development of national reference centers for expertise and local competence centers for care. It is by creating places and tools that bring people together that patients can hope for a better future, ”concludes the specialist.