Derek, from now three years, was the Catalonia’s first ‘bubble boy’. It was -verb written in the past tense-, because it is no longer so: after a bone marrow transplant, is recovered from severe combined immunodeficiency that he Hospital Clinic of Barcelona detected him early, as soon as he was born, thanks to the heel test, which is part of newborn screening program of Catalonia. This test was included by Salut in 2017 and, since then, it has already detected six ‘bubble children’. In these six years, it has been made to more than 350,000 newborns.“At 13 days after birth Derek, they called us and told us that she might have severe combined immunodeficiency. The next day we went to Vall d’Hebron and they put us in 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 living absolutely normal. Severe immunodeficiency syndrome (that of ‘bubble children’) affects one in 56,000 newborns and, with early diagnosis, the survival of the little ones is 95%
How do you 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 changed to go in and out. and we could go in As long as we didn’t have a fever,” Rachel account. Inside the room, the parents had to carry face mask, be covered up to the feet and sometimes even wearing a hat. “We slept there, we made changes every 24 hours. And we received visits through the window and we talked through a phone”, Add.
The procedure
This bubble boy, like the other five diagnosed in Catalonia in recent years, was detected thanks to the heel test, which includes the newborn screening program of Catalonia, a program “reference At national and international level, pioneer and innovator at the time of including new diseases”, in the words of the doctor Ana Acute from the Hospital Clínic. This Thursday a press conference took place to explain these six cases.
He clinic has a laboratory where they are analyzed all tests of newborns in Catalonia. “We analyze all the samples and, when we detect a positive case of a disease, we contact all the reference clinical units to start a early treatment in case it is necessary”, explained Agudo. Salut included in 2017 the heel test (which consists of doing a small cut on baby’s foot between the first 24 and 72 hours of life to draw a blood sample) in the neonatal screening program and, since then, has detected six ‘bubble children’, of which five live today.
Was the Vall d’Hebron Hospital who called Derek’s family to break the news. In these cases, he attends to the fathers and mothers of “multidisciplinary” way and with the help of a psychologist”, as the doctor from Vall d’Hebron has said Andrea Martin. “The problem with ‘bubble children’ is that they have high chances of getting infected with very serious viruses and bacteria that make them die in the first year of life. That’s why the idea is protect them, that no organ is damaged, for arrive well to the curative treatment”, Martin explained. Although Derek received a bone marrow transplant, other children receive a gene therapy.
Related news
Most transplants are performed after two or three months, at the earliest. But, during that time, the baby has to be in the hospital. isolated. “If everything goes perfect, a month and a half after the transplant could leave the hospital with very strict controls”, said Martín. The children are considered to be cured severe combined immunodeficiency syndrome at two years.
Catalonia is pioneer in including this heel test in the screening program. For a test to be included they must meet certain criteria, like it’s a known disease, that there is a treatment and have a biomarker. “There is talk of including the test of spinal cord atrophy in this screening”, said Dr. Agudo.