Asthma, type 2 diabetes, sickle cell anemia, genetic diseases affect many families, often without understanding their origin. Between social stigma, lack of screening, high costs and lack of public policy, the patients are delivered to themselves.
In Chad, genetic diseases remain largely overlooked by the general public, often perceived as a bad luck or a fatality. According to the biologist, Dr Ali Barka Mahamat, these conditions are caused by an anomaly in DNA, the support of hereditary information. These anomalies, called mutations, can disrupt the normal development of the human body, with sometimes heavy consequences for affected individuals.
Among the most frequent genetic diseases in Chad, type 2 diabetes and sickle cells occupy a central place. Le diabète de type 2, souvent ignoré à ses débuts, se manifeste par une soif excessive, une faim accrue, une fatigue persistante, des troubles de la vision, une perte de poids inexpliquée ou encore un besoin fréquent d’uriner. Over time, complications get worse: erection disorders, slowness of healing, itching, thickening of the skin and loss of appetite can be installed permanently. Screening is based on fasting or random blood sugar tests. Toutefois, malgré la simplicité apparente de ces tests, leur accessibilité demeure problématique : le matériel est peu fiable et le coût reste hors de portée pour de nombreux foyers. No systematic care is currently ensured by public health structures.
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Drépanocytosis, on the other hand, is the most frequent genetic disease in sub -Saharan Africa. It is caused by a mutation in the hemoglobin gene, which causes the red blood cells. The latter become rigid, take a form of sickle and block blood circulation, causing intense joint pain, repeated infections, growth delays or serious complications in children. The care of sickle cell children is partial and remains limited to hospital structures such as the hospital of the mother and the child or the General Reference Hospital. Adults are largely forgotten by the system.
An essential question often comes back: Are these diseases hereditary?Specialists agree that many genetic diseases are actually transmitted from parents to children. Dr. Mahamat Brahim Dahab, general practitioner, specifies that anomalies can affect genes as well as chromosomes. Some are hereditary, transmitted by parents while others appear spontaneously. In the case of sickle cell anemia, a couple where the two partners carry the AS gene has a 25 % risk of having a child SS, carrying the serious form of the disease. Genetic tests can detect this compatibility, but their rarity and their cost limit their use.
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In addition to sickle cell anemia, other congenital pathologies are regularly reported: cardiac, digestive or neurological malformations, often diagnosed in pediatric services. Asthma is also recognized as a disease with a genetic component. Although there is no unique gene responsible, it is a complex interaction between several genes and environmental factors. A child can thus inherit a genetic predisposition to develop chronic inflammation of the bronchi or increased sensitivity to allergens. The most frequent clinical manifestations are respiratory whistles, dry coughs, difficulties in breathing or a feeling of chest oppression.
Faced with these diseases, families often find themselves alone, helpless and confronted with the absence of public policies. “Most of these curative treatments do not exist. These are just symptomatic treatments, which aim to calm the pain, ”insists Dr Barka Mahamat. The challenges are numerous: absence of reliable specialized laboratories, high cost of tests, ignorance of genetic diseases within the population but also in certain health personnel, insufficient training on management, and above all, absence of national policy of prevention and fight against genetic diseases.
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In this context, another question emerges: Can parents avoid transmitting these diseases to their children? For specialists, the answer is nuanced. In some cases, it is possible to reduce risks thanks to preconceptional genetic screening, allowing future parents to know their genetic status. This type of prevention is notably relevant for couples likely to transmit sickle cell anemia. But these tests must still be available, affordable and accompanied by a national awareness campaign.
In the absence of such a framework, genetic diseases will continue to wreak havoc for Chadian families. More than a fatality, it is a collective responsibility which is essential, to get these shadow diseases out, improve prevention and guarantee a more dignified future for children with genetic anomalies.
