Derek was born in Barcelona with a severe combined immunodeficiency, but thanks to his rapid detection by heel testing, he has been able to be undergoing a transplant that has saved his life.
According to the Spanish Association of Primary Immune Deficits (AEDIP), one in every 40,000 children in Spain is born with a severe combined immunodeficiency, known as the "bubble child syndrome".
Its diagnosis and early treatment are essential to increase the chances of survival. In this sense, the heel test would be decisive, but only Catalonia includes this disease in neonatal screening.
Catalonia, pioneer in the early detection of severe combined immunodeficiency
Derek was born in Barcelona in February 2018, and like all babies he had a heel test, which aims to detect certain diseases early.
In Babies and more, what is the heel test for the baby?But since January 2017, Catalan health includes serious combined immunodeficiency within the diseases of this neonatal screening, becoming the first European health system to incorporate it, and the only Spanish autonomous community.
And this fact has saved little Derek's life, who received the diagnosis 11 days after having performed the heel test, which allowed him to undergo a transplant with only three months.
As explained by AEDIP, the younger the baby is at the time of transplant, the greater the possibility of cure, since less time has to develop infections.
In this sense, if the transplant is performed before three and a half months, the survival will be 94%, but if the pathology is not diagnosed in time, cause death before the first year of life.
After the diagnosis, Derek was admitted to isolation at the Vall d'Hebron Hospital in Barcelona, waiting for a compatible bone marrow donor. Finally, the Registry found a cord blood unit, and after undergoing chemotherapy to favor the success of the intervention and receive immunosuppressants to prevent rejection, the transplant was performed.
Four months later he was discharged, and now Derek can already live a normal life; Receive all your vaccinations, attend daycare and play with your siblings.
"Today, we see that your immune system has been restored, can cope with infections and joins normal life "- highlighted Cristina Díaz, head of the Hematopoietic Transplant Unit of the Vall d'Hebron Hospital in Barcelona.
Since this screening began in Catalonia, there are already 135,000 babies who have undergone it, which has allowed us to detect not only this case of "bubble baby", but another 13 immunodeficiencies of other types.
Include this disease in neonatal screening
In most cases, severe combined immunodeficiency is diagnosed after a baby's first infection, subtracting probabilities to their survival. In fact, according to AEDIP, 35% of children die in this first infectious episode, without even knowing that they were born with this disease.
Therefore, the news of the small Derek highlights the importance of an early diagnosis, which can be reached by including the analysis of this disease in the heel test of all hospitals in Spain.AEDIP takes time requesting the inclusion of this test in the portfolio of Common Services of the National Health System. And so has the Spanish Association of Pediatrics, who considers it important to extend neonatal screening to the detection of severe combined immunodeficiencies, as it is a "medical emergency" that requires "early and optimized action."
The United States was the first country to implement this neonatal screening in 2007, and later Taiwan, Israel, Norway and two regions of Canada joined. In Europe, it is expected that France, the United Kingdom and Germany will also incorporate it shortly.
Severe combined immunodeficiency: a potentially total disease
Severe combined immunodeficiency syndrome is a rare disease of genetic origin, characterized by a decrease in the number or function of T lymphocytes and B lymphocytes, which leads the child not to be able to develop an immune response against environmental pathogens, such as viruses, bacteria and fungi.
Therefore, after being diagnosed they must remain isolated in spaces free of any pathogen that can cause them an infection, hence the name "bubble baby syndrome".
The Early action is essential to ensure its survival, since the transplant will only be effective if done on time and in the best health conditions of the patient. In this sense, neonatal screening or heel testing becomes a quick and effective remedy for early diagnosis.
The heel test is performed by a puncture in the baby's heel, to remove a drop of blood, which is spread on a special absorbent paper and sent to the laboratory for analysis. There may be a single puncture, performed in the hospital at 48 hours of life of the baby, or two punctures, the second one being performed between the fourth and seventh day of life.
Depending on each country or autonomous community, the protocols vary, and as we have seen, so do the diseases that are sought with this test. But I wish all babies could have access to the study of the same pathologies, in order to detect diseases that could be cured with a quick intervention.
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