Iria, the 10-year-old warrior who overcomes a triple pediatric transplant for the first time in Spain
Iria's letter to the Magi has nothing different from that of other 10-year-old children. “I have asked for a house for Barbie, a watch like the one my mother is wearing, a Barbie doll and the boy,” he explains enthusiastically. "The boy's name is Ken," helps his mother, Judith. There are three days left before Melchor, Gaspar and Baltasar arrive with the Santa Eulàlia pailebote at the port of Barcelona, but today, Iria and her mother have stopped on their vacations to go through the Vall d'Hebron Hospital to explain (and give away) A story of overcoming, yours. Iria is only 10 years old, but she is the patient with a mutation in the NEK8 gene, an ultra rare disease that has lived longer with this pathology. And as Dr. Antonio Román affects, the list of gifts he has requested from the Magi shows that, despite having surpassed a triple transplant, "Iria has the same expectations of a child his age." "Now he has the head where all the children have it, but he also goes to school because tomorrow he wants to go to college."
Iria was born with a mutation in the NEK 8 gene that alters the coding of proteins that affect cell development. This dysfunction causes fibrosis and scarring of organ tissues, which stop working. The majority of patients with this disease die before birth or in the first months of life, as happened to a sister, who died before her first birthday.. But Iria is an exception. "A warrior and a brave one," says her mother.
Dr. Ferran Gran, pediatric cardiologist and medical coordinator of Pediatric Cardiac Transplant, says that in 2009, when Iria was four months old, "we saw that he had hypertrophic cardiomyopathy that was incompatible with life". Remember that "we did a genetic and metabolic study, but it was negative." At that time, there were no massive gene sequencing techniques. "Since the situation was very serious, we decided to do a heart transplant", go on. Iria entered the waiting list one month of August and in September he entered the operating room. "The heart arrived soon, but after the transplant, the heart did not pump and we had to connect Iria to a machine that functions as an extracorporeal blood circulation," he says. This is the same machine that saved Audrey Mash, the young woman who survived a six-hour cardiac arrest due to hypothermine after losing herself in the mountains.
When the heart reacted, the medical team disconnected the girl from the machine and discharged her. "We returned home with a six-month-old baby taking 17 medications," recalls his mother.
She was the first patient in the world with this disease who received a heart transplant. But this has not been the only milestone of Iria. In 2017, he started having liver problems. “We saw that he was too old for his age and that he had signs of fibrosis, says Dr. Ramon Charco, head of the Hepatobiliopancreatic and Transplant Surgery Department of Vall d'Hebron. In addition, he had elevated pressure in the portal vein that implies a high risk of bleeding from esophageal varices. And if that wasn't enough, Dr. Mercedes López, from the Hospital's Pediatric Nephrology Service, adds that at the end of 2017, a renal failure with progressive deterioration was also detected.. He began to need chronic hemodialysis, three weekly sessions of four hours. But there came a time when double liver and kidney transplantation was the only possible treatment. At this point, and Thanks to the new techniques that allow sequencing and analyzing many genes at the same time, the medical team discovered that Iria had a mutation in the NEK8 gene. "It is an ultra rare disease of which there are only a dozen cases documented in the world," Dr. Jesús Quintero, from the Liver Transplant Unit, points out.
Although double liver and kidney transplants had been performed in children, it was the first time that such an intervention was performed on a pediatric patient who had already received a heart. Dr. Quintero says that "we put it on the waiting list." Last October the organs arrived and made the intervention. The medical team spent more than twelve hours in the operating room. First he transplanted the liver, then the kidney.
Doctors don't know what their evolution will be, because Iria's case is unique in the world. What they do affirm is that the transplanted organs are free of the disease. They are healthy.
Iria has this disease because her two parents carry the mutation in the gene. But this does not imply that their descendants develop the pathology, in fact they have another healthy son. The probability of the NEK8 gene mutation waking up is only 5%.
Today, Iria still teaches at home, "to avoid the bugs," she says. But as soon as I can he will go back to school. Meanwhile, he hopes, like the rest of the children, that the Magi have read his letter and on Sunday they leave at home a Barbie, a Ken, a house for both of them and a clock like his mother's.