Rare diseases: difficult to diagnose and treat

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Extract from the article: Taken together, rare diseases represent a major public health challenge. Many of them are also so-called "orphan diseases", i.e. pathologies for which there is little or no treatment. In Togo, according to Mathieu Yakanou, State Nurse at the USP K

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Taken together, rare diseases represent a major public health challenge.    Many of them are also so-called "orphan diseases", i.e. pathologies for which there is little or no treatment. In Togo, according to Mathieu Yakanou, State Nurse at the USP Kpétsou in the Bas-Mono prefecture, in the communities we can distinguish haemophilia, trisomy 21 and spina bifida, among others.

Half of all rare diseases affect children under the age of 5, and are responsible for deaths between the ages of one and 5. According to Mathieu Yakanou, State Nurse at the USP Kpétsou, a rare disease is any illness that affects one or two people out of every 1,000. 80% of rare diseases are genetic in origin. They are usually severe, chronic and progressive, considerably affecting the quality of life of sufferers. They result in motor, sensory or intellectual deficits and a total loss of autonomy.

Hemophilia

The Association Togolaise des Hémophiles shows that the number of known hemophiliacs in Togo is very low due to the lack of diagnosis. Statistically, there is one (1) hemophiliac in every 10,000 births.In Togo, for a population of over 700,000, 700 hemophiliacs could be diagnosed. Hemophilia remains a rare condition whose prognosis and quality of life have been totally transformed by new anti-hemophilic treatments. « It is a genetic disease characterized by spontaneous or prolonged bleeding due to a coagulation factor deficiency », explains Mathieu Yakanou, a state nurse.

Trisomy 21

Trisomy 21 is a genetic disease that affects everyone. It results from a chromosomal anomaly, i.e. a normal human being must possess 46 chromosomes organized in 23 pairs. In trisomy 21, chromosome 21 is in triplicate instead of in duplicate, bringing the total number of chromosomes to 47: « Trisomy 21 is therefore a disease linked to chromosome imbalance, since the presence of a supernumerary chromosome 21 leads to organic and functional alterations whose association and evolution are characteristic of it. It is qualified as a congenital anomaly present at birth because it is associated with the particular constitution of the fœtus », says Mathieu Yakanou.

Spina bifida

Spina bifida is a malformation that occurs during the first 4 weeks of uterine life, at the very beginning of pregnancy.In some cases, this anomaly occurs at a time when the mother does not even know she is pregnant.For the state nurse, « in children suffering from spina bifida, the neural tube does not close normally, as it should between the 21st and 28th day of pregnancy.What's more, this malformation can be seen in the spinal column at birth, and most of the time leads to serious neurological and other after-effects ». Spina bifida affects just over one pregnancy in 1,000.

Other rare diseases are often chronic, sometimes progressive and visible from birth or childhood. These include infantile spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta and chondrodysplasia. Worldwide, over 350 million people suffer from rare diseases that are difficult to diagnose and treat.Researchers are stepping up their efforts to better understand the causes of these diseases, and to develop new ways of treating them.

Jean ELI