“We lived in solitary confinement in one room for five months, but now he is healthy.”

Derek, now 5 years old, was the The first “bubble boy” in Catalonia. It was -verb written in the past tense-, because it is no longer the case: after a a bone marrow transplant, is retrieved from severe combined immunodeficiency that the Hospital Clinic of Barcelona detected it at an early age, just after birth, thanks to the heel prick test, which is part of the newborn screening program of Catalonia. This screening was included by Salut in 2017 and since then there has already been six “bubble children”. During these six years, the test was practiced more than 350,000 newborns.“At 13 days after birth Derek, they called us and said he might have severe combined immune deficiency. The next day we went to Hebron Valley and they put us in a a room that was like a bubble, where we lived for five months,” says the mother, Raquel Colomer. A bone marrow transplant saved the life of the little boy, who is now healthy and living a good life. absolutely normal. Severe immunodeficiency syndrome (the “bubble boy” syndrome) affects one in 56,000 newborns and, with early diagnosis, survival little ones is 95%.

How can we live in a “bubble”? “We had to shower every time we came from the street. And inside we had to be with hospital clothes. We used to change and go out. And we could go in as long as there was no fever, Rachel said. Inside the room, parents had to bring mask, be covered to the feet and sometimes even wearing a hat. “We slept there, we made changes every 24 hours. We received visitors through the window and we were talking through a telephone, he adds.

The procedure

That boy bubble, like the other five diagnosed in Catalonia in recent years, has been detected thanks to the heel prick test, which includes the newborn screening program of Catalonia, a program ” reference nationally and internationally, pioneer and innovator including new diseases, in the words of Dr. Ana Agudo of the Clínic hospital. A press conference was organized this Thursday to explain these six cases.

The website Clinical has a laboratory where they analyze all tests on newborns in Catalonia. “We analyze all the samples and, when we detect a positive case of a disease, we contact all the people concerned. clinical reference units to launch a early treatment if necessary,” Mr. Agudo explained. In 2017, Salut included the heel prick test (which involves doing a… small cut on baby’s foot between the first 24 and 72 hours of life to collect a blood sample) in the newborn screening program and has since detected six “baby bubbles”, five of which are still alive today.

Psychological help

It was the Vall d’Hebron Hospital who called Derek’s family to tell them the news. In these cases, the parents of “multidisciplinary” approach and with the help of a psychologist”, as the Vall d’Hebron doctor said Andrea Martin. “The problem with ‘bubble kids’ is that they have highly susceptible to infection with very serious viruses and bacteria. killing them in the first year of life. Therefore the idea is protect them, that no organ is damaged, in order to to arrive at the curative treatment, Martin explained. While Derek received a bone marrow transplant, other children are receiving bone marrow transplants. gene therapy.

Most transplants are done after two or three months, as soon as possible. But, during this period, the baby must be hospitalized. in isolation. “If everything goes perfectly, a month and a half after the transplant you can already leave the hospital with very strict controls,” said Martín. Children are considered cured severe combined immunodeficiency syndrome at the age of two.

Catalonia is pioneer in including this heel prick test in the screening program. For a test to be included, it must meet the following criteria certain criteria, like being a known illness, that there is a treatment and to have a biomarker. “There is now talk of including biomarker testing. spinal cord atrophy in this screening,” Dr. Agudo said.

Catalonia’s third bubble boy

The third child diagnosed with severe combined immunodeficiency was Amjad. The baby boy, who was born on April 9, 2020, in the midst of the covid-19 pandemic, is now a happy, laughing child who does not stop for a second. However, as her mother explains, Fatima Chatate, the process to get there was very complicated. “Nine days after we arrived home, we were called and they told us the heel prick test had been changed,” she told “ACN”. Chatate added that they were quickly transported by ambulance to Vall d’Hebron where the baby underwent further examinations.

When we got the results, they confirmed he was a “bubble boy” and needed a… bone marrow transplant and that scared us a lot,” says Chatate, who says he had “a wrong idea” of what the procedure was. “In the end, that was the easy part, because it’s only one… stem cell transfer, not a complex operation,” Chatate says the hardest part is dealing with… chemotherapy before and the situation afterwards when the little ones have no more tusks. “It was very strong,” she said.

However, she expressed her gratitude for the support received by professionals at the health center and by newborn screening which revealed that Amjad was ill. “We’ve been from hospital to hospital since he was born, but now, finally, He received his first vaccines, He started school and we can say that the treatment worked and he is cured, ”she said with great emotion, while recalling that they went from a situation where they could barely “kissing” her to a situation where they can. ” a normal life “.

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