Automatically translated from Basque, translation may contain errors. More information here. Elhuyarren itzultzaile automatikoaren logoa

Neonatal heel test: where you were born, public health will look for more or less diseases

  • More than 50 problems or diseases can be detected through the heel test that is done shortly after birth, but depending on the territory of birth, public health will study more or less diseases. If they are born with a metabolic problem and are or are not on the list they study on the heel test, the difference can be huge in the person's quality of life, until death is prevented. In the CAPV they study 12 diseases in the Northern Basque Country 13 and in Navarra 27. For example, in Galicia 33, in Andalusia 34, in Italy 48…

21 April 2023 - 04:00
Zarata mediatikoz beteriko garai nahasiotan, merkatu logiketatik urrun eta irakurleengandik gertu dagoen kazetaritza beharrezkoa dela uste baduzu, ARGIA bultzatzera animatu nahi zaitugu. Geroz eta gehiago gara, jarrai dezagun txikitik eragiten.

With a few drops of blood stinging in the newborn's heel, the neonatal screening (better known as a heel test) detects rare diseases, many related to metabolism, but also some other. Moreover, through this test, numerous genetic diseases are being detected in different places, but not in the Basque Country.

In the case of Hego Euskal Herria, the Government of Spain has established a minimum number of problems to analyze in carrying out the heel test, and from there each community decides to maintain it (there is an order to screen at least seven metabolic diseases and the government of Sánchez is studying the addition of another four) or to carry out the screening of more. There are 27 problems in Navarre (Maria Chivit said that she wants to increase this figure), while in the CAPV there are only 12 (and no increase is announced). In the Northern Basque Country, they are based on the number of sieves implemented by the French Government: 13 (until recently only 6 were studied, but in January another 7 were added).

“We felt so proud of Osakidetza, and look, we clearly live in a dismantling of public health,” says Sergio Villanueva, president of the Association of Metabolic Disorders of the Basque Country. He adds that instead of taking into account a minimum number of diseases, it should be based on analysing as much as possible that the test allows. Associations of metabolic disorders set an example to Italy: they have legally established the obligation to screen 48 problems through this neonatal test.

In addition to the quantity, the types of diseases considered in the test are different according to the territory, within this criteria festival: in the Spanish State, from the minimum amount, each community decides how many problems they want to observe.

A girl from Bilbao was taken to the emergency room last year, near death, and concluded that she suffered from acidemia, detected by heel tests in several territories, but not in the CAPV.

Difference between the introduction or exclusion of a disease

These are rare diseases, uncommon in absolute and percentage terms, “but their detection is very simple and if they occur as soon as they are born it is a great benefit in the long term”, emphasizes Villanueva. She gives us the example of her daughter, who has phenylketonuria (one of the disorders considered in the heel test) and who has a normal life taking great care of her diet, “but when they did not detect this disorder in the heel test, those who were not treated had great disabilities, deep mental retardation and a shorter life expectancy.”

Another very close example is that last year a girl from Bilbao had to go to the emergency room for the third time, with a hypoglycemic crisis and immense problems, near death, and they concluded that she suffered from acidemia. Acidemia is detected by heel tests in several territories, but in the CAPV Osakidetza does not analyze it because it is not one of the 12 considered in the CAPV. “If they were added to the screening, many pains and problems would be avoided, as the consequences are very serious, and can even lead to the death of the patient.”

Why are no more diseases considered?

According to Sergio Villanueva, the leading equipment of the CAPV regarding the economic impact of the study of the minor or greater condition is: “There are machines that perform these tests and the samples extracted from the heel test pass through the machine, study less or more conditions. The change would be the time it would take to analyse more or less things in the interpretation of these analytics, personal resources or any other resources that would be needed to interpret the conclusions.” And yet, Villanueva is clear: “It is proven that all that can be done at the preventive level is cost-effective; now more expensive than what will be invested in increasing the sieve in the heel test is to care for the person who will end up in the emergency room with the disease he has not detected, until he finds what he has.”

The request has long been made to Osakidetza and the Basque Government (several associations and federations have also done so to the Government of Spain, and to the European Union, for all countries to implement the policy of introducing the greatest number of problems in the test). Villanueva explains that what has been said to them by the Government is that a bureau of experts is studying the subject. “But the last table is a year or a couple of years old and we have seen no progress, it does not seem to be in the government’s priorities,” he said.

"Although there are few cases, considering that there is little cost to increase screening and above all that the benefit of early detection is very high, how will it not deserve it? We're talking about being able to lead a decent life."

Villanueva was asked what arguments the Administration uses in order not to increase the amount. The prevalence of these diseases and problems among the population is very low, they are rare diseases and “as there are few cases, it is not worth analyzing if the child suffers”. “But if there are few cases, given that there is little cost to increase screening, and above all that the benefit of early detection is very high, how will it not deserve it? We talk about human rights, about social justice, about being able to lead a dignified life.”

Expanded the screening, Villanueva tells us that some of the problems that can be considered in the test have no treatment or solution, which the Administration also argues. “It’s also no small thing for the family to know the problem and the future of their child.”

Many fronts are open in this fight: aid for the treatment of these rare diseases has different criteria depending on the territory. “For example, your special food is subsidised in many places, but in the CAPV no, and the food is very expensive, five or ten times more than usual; in the case of the special sausages we brought recently from Germany for your daughter, we pay a can of six sausages for 8 euros and the box of breakfast cereals (low protein cereals) for 6 euros.”


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