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Pediatricians from University Hospital "St. Marina" Have Saved the Life of a Two-Month-Old Baby with a Rare Genetic Disease

Pediatricians from Varna have saved the life of the two-month-old Christian, who was admitted to the emergency department at University Hospital "St. Marina" in an extremely serious condition. At the hospital the young patient stopped eating and drinking water, he had disorders of consciousness and increased levels of ammonia. After performing urgent life-saving actions and medical tests, the doctors diagnosed the child with a rare congenital genetic enzyme defect in the amino acid metabolism. This is a recessive disease that is passed down from generation to generation, but it only occurs when two genes of that type are joined up. Its incidence is 1 in 70 000 up to 100 000 newborns, and Christian is the first such case for the Pediatrics team at University Hospital "St. Marina" - Varna.

The two-month patient has had a clinical picture since his birth, but since rare diseases are not easy to be identified, and his doctors had not encountered such disorders before, the disease had remained unidentified at first. On the other hand, the mother thought that the deteriorated health condition of the child was due to a recent vaccination.

"We wouldn’t have coped with the case on our own without the help of the National Centre for Rare Metabolic Diseases because they deal with similar cases of children all over the country and are better equipped with regard to the medications needed. In the very beginning we made the differential diagnosis between 2 and 3 major diseases. We have enough hope for the child because there are several big centres in the world, the greatest of which is in the United States. There are more than 150 patients there and according to their data, it is possible the child to be cured without any consequences for him, provided there is  well thought-out and properly applied care", explains the head of Pediatrics at University Hospital "St. Marina" Prof. Dr. Violeta Yotova.

Little Christian has already been stabilized, and he is about to be taken to the National Centre for Rare Metabolic Diseases in Sofia over the coming days. A nutrition regime will be prepared for him there, and his mother will be taught how to feed him, the specifics of the care required for such a disease, and in which cases she needs to seek medical aid.

The mother Maria Nikolova says, "It is hard for a parent not to know if her child is going to survive. He is only 2 months old, and he is everything for us. I am grateful to the whole team of the Intensive Care Unit at University Hospital "St. Marina" in Varna, who saved Christian and provided the necessary daily care in the way I would have done it at home."