FEDER denounces unequal access to heel prick testing: "All newborns should have the same opportunities."

Every year, 400,000 babies in Spain undergo a simple blood spot test on paper between 48 and 72 hours after birth to detect possible diseases , but depending on the Autonomous Community where the baby is born, this test includes more or fewer pathologies.

For this reason, the Spanish Federation of Rare Diseases (FEDER), on World Neonatal Screening Day, taking advantage of the occasion celebrated on June 28, is warning about the inequalities experienced by families in Spain depending on the Autonomous Community where their babies are born.

To address this situation, FEDER will initiate a legislative process that will take steps forward to create equitable access to diagnosis through newborn screening in our country.

The neonatal screening program of the National Health System's Common Services Portfolio has approved 12 diseases, but some autonomous regions have included more diseases in their neonatal screening programs. Thus, some include the diagnosis of more than 40 pathologies, while others only include those established by state regulations.

“All of this creates inequity , since access to screening tests depends on the family's Autonomous Community of residence. All of this means different opportunities for the baby and their family regarding early detection and prevention of serious complications in rare diseases. Standardizing these tests would improve the quality of life of many patients from the first days of life,” says Juan Carrión, President of FEDER.

Luis's story

This is reflected in the story of families like Ana's, whose son, Luis, underwent the heel prick test and everything seemed to proceed normally, however, after a few days the little boy began to lose weight and become sleepy.

After a genetic test, they confirmed that Luis had congenital adrenal hyperplasia (CAH) , a condition that causes his body to produce insufficient amounts of cortisol, a hormone essential for stress control, and aldosterone, which regulates the balance of sodium and potassium.

In your Autonomous Community, as in other regions, this disease is not yet included in the screening program carried out using the "heel prick test."

"If Luis had been born in Madrid, La Rioja, or Galicia, this condition would have been detected in the heel prick test. This situation of inequity puts at risk the health of hundreds of thousands of babies born in our country each year, whose opportunities vary depending on the region where they are born," says Isabel Motero, General Director of FEDER.

If Luis had been born in Madrid, La Rioja or Galicia, they would have detected this pathology in the heel test.

This inequity can also be extrapolated to the European level , where the situation is very unequal, from the 2 pathologies in Cyprus to the 48 in Italy .

Furthermore, the data show that Spain is the European country with the greatest gap between the number of diseases screened for nationally, included in the Common Portfolio, and those additionally incorporated into the neonatal screening programs of the different Autonomous Communities/Cities.

Equity in access to testing

This inequality between autonomous communities is due to the fact that, apart from the pathologies included in the Common Services Portfolio , some autonomous communities have incorporated complementary panels for other pathologies into their screening programs that are not yet integrated at the state level, thus generating a clear difference between the tests that a family can access depending on their place of residence.

As stated in the Evaluation Report of the Ministry of Health's own screening program , some autonomous regions are identified as screening the minimum and others as screening for more than 40 pathologies, thus generating a great disparity between the screening tests performed on a newborn in one place in Spain and another just a few kilometers away.

"At FEDER, we've been working on this for years, communicating the pending challenges in neonatal screening to the Ministry of Health . We're working in a working group with the Ministry and also with our associative movement, made up of 422 entities," says Isabel Motero.

For his part, Juan Carrión praises "all the work being done to increase the number of pathologies included in the NHS neonatal screening program , and we emphasize the importance of continuing to make progress in standardizing these diseases to promote equality throughout the country. In this sense, we emphasize the importance of continuing to work to guarantee complete equity and speed up the timeframe in which pathologies are incorporated into the program, since neonatal screening is a key element in diagnosing and treating these diseases early and preventing premature mortality and associated disability , as well as improving the prognosis and increasing the quality of life of those living with rare diseases ."

Neonatal screening is a key element for diagnosing and treating these diseases early.

A bill for universal neonatal screening

In our country, Murcia is the autonomous community that screens for the most diseases , a total of 44, including partial biotinidase deficiency, a gene mutation that results in reduced or absent enzyme activity, causing epileptic seizures, respiratory distress, or skin rashes, among others.

Fuensanta received the news in Murcia that her newborn son, Noé, had this condition. Fifteen days later, Noé began taking biotin, which prevented the deficiency from manifesting, as it usually occurs after 36 months without treatment. "Thanks to the early diagnosis , my son didn't develop any after-effects and can lead a relatively normal life," says Fuensanta.

" We want all newborns and their families in our country to have the same opportunities for early diagnosis, because treating a condition early can mean the difference between life and death," says Carrión.

To address this situation, FEDER has initiated a legislative process that will take steps forward to generate equitable access to diagnosis through neonatal screening in our country. After sending a letter to the Speaker of the Congress of Deputies, it has begun a round of contacts with representatives of the various parliamentary groups in the Congress of Deputies. Its objective is to convey to them the need to promote a Bill on universal neonatal screening in our country, with the aim of guaranteeing equitable access for all citizens to early diagnosis of rare diseases.