A trompe-l'oeil rarity

Rare but frequent. This is the whole dilemma of rare diseases. Of course, they affect less than one in two thousand people, but since there are between 2000 and 8000, rare diseases ultimately affect 1.5 million people in Morocco alone, according to the Alliance des rare diseases in Morocco (AMRM) which adds: “A doctor encounters this type of pathologies more in his daily practice than cases of cancer or diabetes”. On the occasion of the 14th International Rare Disease Day, scheduled for February 28 and celebrated in more than 100 countries to raise awareness about these diseases and their impact on the lives of patients and their loved ones, the AMRM, chaired by Dr. Moussayer Khadija, specialist in internal medicine and geriatrics, is organizing a Maghrebian forum this Saturday in partnership with the Roche, Jansen and Laprophan laboratories. Pandemic obliges, the forum in question will take the form of a webinar (see box), having as main topic “Rare diseases and prevention of the handicap”. It won’t be too much. Rare diseases have not yet revealed all their secrets and are largely underestimated. Also called orphan diseases, they are of various origins: genetic, infectious, cancerous or autoimmune. Three quarters of them start in childhood. Others wait 30, 40 or 50 years before showing up. Combined with diversity, this last point makes diagnosis difficult. And even if there is a diagnosis, taking charge looks like a real way of the cross. “In the Maghreb, despite the significant efforts made in recent years for better management of these diseases, they still pose a real public health problem due to a lack of screening, insufficient specialized care centers and the unavailability of many drugs. ”, Regrets the AMRM in a press release. Obviously, people with rare diseases and their families find themselves left to their own devices, helpless in the face of a disease with dramatic consequences in the event of a false diagnosis or inappropriate care. “A large number of patients see their condition deteriorate and suffer from a handicap in their daily life or completely lose their autonomy”, laments the Alliance of rare diseases in Morocco. In particular, motor disabilities with loss of mobility function or loss of the function of an important organ: heart, kidney, liver or even lungs. It’s cold in the back. All the more reason not to look away. Especially since survival is not the only horizon of a person suffering from a rare disease. It is also possible to live with it. This first involves innovative therapies “which replace missing substances, in particular enzymes or a faulty gene, as well as systematic neonatal screening for all newborns”, recommends the AMRM while expressing its incomprehension as to the absence of such screening in Morocco. However, its importance is not pretended. Far from it. Neonatal screening is able 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”, specifies the Alliance. But is that sufficient for all that? Shouldn’t we think about filling the lack of information on these diseases? An awareness campaign aimed at both patients and healthcare professionals would not be superfluous. Hence the importance of this Saturday’s webinar (see box). Realize, it takes between two and ten years for a diagnosis to be made before the proper treatments can be given. In the meantime, it is the patients who are suffering. And their families might a thousand. You don’t want anyone to watch a loved one suffer without being able to help them. The impact on families is such that, according to a survey by the Observatory for Rare Diseases (2015), 51% of parents of sick children have had to give up work. And this is only one consequence among others. Taken together, all of these elements confirm the urgency of considering rare diseases as a public health priority “as part of European countries, in a national plan for rare diseases”, concludes the Alliance of Rare Diseases in Morocco (AMRM). Chady Chaabi