September 09, 2020
Little John Mary suffers from a rare hereditary disease: his platelets are not able to stop bleeding.
Siniscola (Nuoro) – A father’s love for his son is all in a simple photo: in the left pane, there are the legs of Giovanni Maria, a child who will turn 4 in October, while those portrayed on the right are of his father, Marco Dalu. Why are they full of bruises? For the child, the answer is called Glanzmann’s thrombasthenia, a very rare hemorrhagic pathology (there is talk of an incidence equal to one case in a million people) in which platelets fail to form aggregates and thus to stop blood in bleeding. The father’s bruises, on the other hand, are tattoos. To understand what drove Marco Dalu to make this decision, you have to start from the beginning, from the birth of John Mary.
The Dalu family lives in Siniscola, a town in the province of Nuoro. The mother faced a somewhat complicated birth and was given a cesarean because the newborn was at risk of suffocation due to the umbilical cord. At the time of birth, little John Mary seemed quiet, and after doing all the ritual checks, he was placed in the arms of his parents. However, during the night, he had seizures and a respiratory blockage and was immediately transferred to the neonatal resuscitation unit. There, the next morning, the parents see their son intubated and sprinkled with bruises all over his body, completely purple. But this was the least troubling part of the story: the seizures were due to a cerebral hemorrhage.
“The first words the doctors told us were that the baby would not survive, and otherwise it would not be normal,” says Marco Dalu. “I let you imagine the anguish of those days: within a few hours, we went from the most immense joy that a man and a woman could experience, to the greatest fear. The images of those moments are still clear in our minds and I think they will be until the end of our days. Hope, however, we never lost it and, slowly, in the face of the amazement of the doctors, my son, who before seemed almost like a vegetable, began to breathe on his own, to smile, and to attach to his breast. After that, another problem had to be addressed: figuring out whether John Mary was ‘normal’ or not, but we could only see that during growth. The other significant doubt was all those bruises, which no one could explain and that, after a month spent in the incubator, they gradually disappeared.”
Back home, things seem to be going well, until the parents see bruises again in some places of John Mary’s body: they can not explain how they may have formed, since the newborn had not taken shots or slammed anywhere. They decide to take him to the hospital in Nuoro, where the doctors give him a hemochrome: everything is normal, the platelet count is correct, and the doctors can not find an explanation. So the parents take the child to Cagliari, to the Microcytemic Hospital, where withdrawals are performed and the test of platelet aggregation, both to the child and the parents. The response is traumatic: John Mary’s platelets are not able to form aggregates; their number is correct, but they do not work.
“They gave us the example of a tiler who has to make a floor and has the right number of tiles, but he can’t put them where they need to go,” Marco Dalu recalls. “There, for the first time, we heard about Glanzmann’s thrombasthenia, a pathology they also found on me. Fortunately, I am asymptomatic and have never had any problems: I have lived, and still, live, a complete life, without limitations. The confirmation of this disease we obtained, however, only in 2018, when we were sent to the Gemini Polyclinic in Rome and, to be sure of the defective gene, both my son and I did the DNA test”.
“To this day, Giovanni Maria grows well; he is a very cheerful and naughty child, but now and then he makes us run up and down hospitals because of these spontaneous bleedings, especially from gums and nose. The last one happened a few months ago, while we were sleeping: he started to reject an excessive amount of blood”, continues Marco. “We thought of intestinal bleeding, and we were preparing for the worst: we immediately called the ambulance, and in the meantime, I gave him an anti-hemorrhagic, the only remedy for this pathology that knows no cure. The child arrived at the hospital with the maximum pressure at 34 and was collapsing: it was a blood mask. Fortunately, the bleeding was at the level of the capillaries of the nose: John Mary, all night, had swallowed his blood and then rejected it. This time too, it was fine, and, after a couple of hours and an IV, my son ran far and wide through the pediatrics department.”
Alongside all this, Marco Dalu and his wife, today, are facing another problem. At the dawn of his four years, Giovanni Maria begins to look at himself and discover himself and realizes that he is different from the other children. He sees himself full of bruises, especially in his legs and arms; he begins to feel people’s eyes on him, and so he covers himself with little hands to hide. “That scene caused us yet another extreme pain, and then I decided to get his bruises tattooed on my legs so that he never gets ashamed of his outward appearance. I want to make him understand that he will never be alone and that his father, despite having bruises too, lives happily without having to be ashamed of anything…”
Marco Dalu and his wife do not know other people who live with the same pathology as John Mary and would be happy to exchange opinions with those who share this problem. Anyone wishing to make a report about Glanzmann’s thrombasthenia, or get in touch with the Dalu family, can send an email to the following email address: firstname.lastname@example.org.