When only a little brother can heal you: "I will love him forever"

BarcelonaEzekiel is only two years old and is not yet aware that he has saved the life of his older brother Jeremiah, who was born with a hereditary blood disorder called sickle cell anemia. His red blood cells, which are responsible for transporting oxygen throughout the body and are normally flexible and disc-shaped, were rigid and sickle-shaped, blocking the normal flow of blood and causing very intense pain crises. He had his first episode when he was only one year old, although he doesn't remember it. As he grew older, these attacks became more frequent and more severe, and the treatments he received were ineffective. The only alternative for a cure was a bone marrow transplant, but there was no compatible donor. Jeremiah couldn't run or play like the other children in his class; he tired very quickly, and the pain episodes could last for days, sometimes even requiring hospitalization. He once spent more than fifty days in the intensive care unit (ICU) of Son Espases University Hospital in Palma, the city where he lives with his family. His father explains that hospitalizations also increased over time, and by the age of nine, he had an episode almost every month that required him to spend a few days in the hospital. From a young age, he was given hydroxyurea, a medication that increases the production of hemoglobin—the protein that binds to oxygen when it circulates in the blood—and reduces pain crises in people with sickle cell anemia, also known as sickle cell disease because of the shape of the blood cells. He also received blood transfusions to increase the number of red blood cells in circulation, but despite these treatments, they were unable to alter the course of the disease, which was beginning to affect his vital organs and jeopardize his survival. This left Jeremías with only one option: a bone marrow transplant. But for this transplant to be effective, the donor needs to be a high match, usually a family member such as a parent or sibling.

It was then that Jeremiah's parents were offered the possibility of traveling to Barcelona to try for a child through in-vitro fertilization. in vitro With genetic selection, since both parents are healthy carriers of the disease, the operation was performed at Vall d'Hebron Hospital. "We didn't hesitate," recalls his father, Andry. As a result of this decision, Ezequiel was born, and two years later, when the donor was old enough for the transplant, his older brother's life changed. "I'm more active than before, I no longer have pain, and I can keep up with the other children," celebrates Jeremías, who at 10 years old and cured of the disease is now ready to return to Palma to continue with his life.

Fentanyl and morphine

In Catalonia, this disease is rare, with a prevalence of one case per 3,000 births, but it is more common in people of African descent, as they are more likely to carry the genetic mutation that causes it, according to David Beneitez, head of the Erythropathology Unit at the Hematology Department of Vall d'Uixó Hospital. Treatment focuses on alleviating symptoms and preventing crises, but in more severe cases like Jeremías's, the curative options are a transplant or gene therapy, which has not yet been approved in Spain. The expert states that early diagnosis is crucial for treating the disease and preventing complications, which is why it has been included in newborn screening in Catalonia for years, the so-called heel prick test. Since crises can worsen rapidly and be life-threatening, it is very important that parents have enough information to recognize them, warns Anna Collado, from the Pediatric Oncology and Hematology Department at the hospital. Furthermore, not all healthcare centers are familiar with the disease—because it is rare—which can complicate diagnosis and treatment. That's why Jeremías explains that he was scolded when he endured the pain so as not to worry his parents. "They injected me with fentanyl after I had received three doses of morphine," he recalls of a day when he had a severe crisis, but he didn't report it until the pain was unbearable. "You have to verbalize everything," the expert emphasizes.

Because his case was so severe, the only alternative was a transplant. Cristina Díaz de Heredia, head of the Hematopoietic Stem Cell Transplant Unit, explains that once Ezequiel was born, who was a 100% match for his older brother, they preserved the umbilical cord, which is a "very good source" of stem cells, and then had to wait. Once he was old enough to be a donor, they combined the bone marrow extracted in the operating room with umbilical cord blood, a strategy that increases the chances of the procedure's success, speeds up recovery time, and reduces the risk of rejection. "When I'm older, I'll thank him for giving me his bone marrow and curing me. I'll love him forever," Jeremiah says with a smile.