Marie, the child of miracles

Only Africa sometimes makes us still believe in miracles! That is, in situations that are difficult to explain in medicine but that happen, because you are in it and you can see clearly. This is the story of Marie, as we will call her, a beautiful girl from Ouagadougou.

One evening I get a phone call from a friend, a paediatrician who works in Borgo San Lorenzo, a town in Tuscany, Italy.

«Hi Stefano, it’s Giacomo. I wanted to tell you that they called me from Ouaga for a child with ambiguous genital development. They would like to take it to Italy for an d». «Send me photos, blood samples and any other exam, if done, and I will study the case» I replied.

Marie presented an ambiguous genital development that needed to be studied in depth. I thought I could have set up a work and study group with the little amount of material that had been send to us, waiting for the child to arrive in Italy. In Ouaga many exams necessary for the diagnosis cannot be carried out and therefore it was necessary to transfer her to Italy, also to plan possible treatments. In fact, after 1 month, they called me to tell me that Marie had arrived in Borgo San Lorenzo and I prepared myself to do the examination in the hospital.

Upon arrival at the hospital, I found myself in front of a beautiful infant (3 months of age), even if she presented an important failure to thrive, looking skinny and emaciated. The necessary blood tests were carried out and, after 20 minutes, the laboratory urgently called me to warn me of a value far below the norm: the child presented an important hyponatriemia (119 mEq/L), with a significative hyperkaliemia (6.5 mEq/L). The girl was hospitalized immediately to perform all the examinations and appropriate therapies. After a few days, the hormonal dosages confirmed our suspicion: with a very high value of 17 OH progesterone, Marie had an adrenogenital syndrome with loss of salts, implying a very high risk of mortality in the first months of life.

Africa had done a miracle! The very strong temper of Marie had made her survive this ruthless disease! Marie was saved in those months due to the administration of hydrocortisone that was made in Ouaga, following the advice of a French doctor, that had the suspicion of a congenital adrenogenital syndrome, and trying to overcome the lack of a second hormone necessary for its treatment, fludrocortisone, which is not found in most African countries.

Very often, I find myself talking to the mother, of whom I became a friend, of Marie’s situation and of the miracle linked to her survival. In those situations, we both think of all those children who did not have the same good fortune and who did not make it to survive that disease.

Even Marie was in my thoughts when I designed this Master and also for her, to whom I must find every time the way to send the fludrocortisone necessary, I carry in my heart an Africa full of Endocrinologists, Diabetologists and Pediatric Endocrinologists!