The Regional University Hospital of Malaga, formerly called Carlos Haya and the largest in the province, has experienced turbulent months since a baby born with a potentially fatal genetic disease, spinal muscular atrophy (SMA), took almost two months after the case was detected. to be treated with a revolutionary gene therapy despite repeated requests from the pediatric service. These were not attended to by the management until a patient association contacted the health center to inquire about the case.

EL PAÍS has had access to more than a dozen emails, communications and meeting notes that allow us to reconstruct what happened in a case that in recent weeks has become extraordinarily complicated with the hospital’s complaint to two workers, the opening of an investigation by the Prosecutor’s Office and the resignation, on February 13, for “personal reasons” of the center’s manager, María del Mar Vázquez.

The gene therapy at the center of the conflict is Zolgensma (Novartis), the most expensive of those included in Spanish public health with an official price of 1.95 million euros. It is a treatment that is given in a single dose and that allows the baby to correct the deficiency of a gene that causes SMA. Alteration of this gene prevents the body from producing a protein that protects motor neurons (or motor neurons), without which babies cannot develop their muscles and die. Although with the uncertainties surrounding innovative therapies, the available data confirms that Zolgensma markedly increases muscle growth and survival, but it always needs to be administered before disease progression damages neurons and irreversible symptoms develop. .

The baby, whose data is kept anonymous to protect the privacy of the family, was born in the second half of 2022 in a hospital in Eastern Andalusia. The Regional Hospital of Malaga is a benchmark in this area for neonatal screening, which allows early detection and treatment of genetic diseases, and is conducting a pilot research study to screen for SMA. The heel prick detected the disease in the first week of life and, four days later, the baby was seen for the first time by the pediatric team. Two blood samples were drawn at the hospital to confirm the diagnosis.

After this visit, the Pediatric Service sends an initial email to the medical director. “We have had a positive screening for SMA. The patient is currently 12 days old and is presymptomatic. (…) Regarding this issue, I would like everyone’s collaboration, since the most important thing in these cases is early treatment. (…) The protocol at the national level is prepared and the guidelines for action are very clear. It is only necessary that the authorization is not delayed too long ”, subscribes the responsible physician.

This is the first of at least five messages sent to the medical management that have not received a response. Only the second of them receives a short reply in which it requests “a report justifying the suitability of this treatment (Zolgensma)”. As this message copies the hospital manager, from this moment María del Mar Vázquez will also receive the successive letters.

When the baby is 25 years old, the tests carried out confirm that it has three copies of the gene SMN2, a fact that is relevant because it determines the moment in which Zolgensma can be administered (in this case when the symptoms are still mild). Doctors already detect a “mild hypotonia” in the patient, a decrease in muscle tone.

The doctor in charge, a national expert in SMA, puts forward in writing at that moment the two therapeutic alternatives available. One is Zolgensma and the other is Spinraza (Biogen). This second drug treats the disease with another mechanism of action that requires intrathecal punctures —in the fluid that surrounds the spinal cord— on a chronic basis. This and other reasons are what lead the medical team and the family to favor Zolgensma. In this second email, the pediatricians insist: “The most important thing is that the patient has come out of screening and it would be very interesting to treat him with minimal future sequelae.”

Six days later, the responsible pediatrician sends a new message with the information requested by the medical management. She and she continue to press the need to make a decision: “It is important to be quick, because with each passing day (the baby) loses motor neurons and that means a worse future for him. I beg you for an answer.”

Another five days go by and the pediatricians insist again: “At the national level these treatments are being indicated without the need for this wait, which is being excessive for the professionals who care for the patient, for the family, and for the health and future of the patient. . (…) We make it useless to screen patients in the first week of life, if we then take months to start the path to treatment”.

Eleven days later – the baby is already 48 days old – the pediatrician sends a new email to the address: “We have sent (…) a new report on the patient’s condition. (…) I would appreciate it if you let us know if any more documentation is needed, or it is necessary to complete any document (…). To be able to do it and start one of the two therapies”.

Two sources from the hospital confirm that at this time the discomfort in the pediatric service had skyrocketed when they saw that the baby had begun to develop symptoms more clearly. “No one could understand the apparent disinterest of management. It is not that they said that one treatment was better than another, or that there were doubts. It’s just that they didn’t say anything”, explains one of them.

The situation turned around almost immediately, coinciding with the arrival on the scene of a new actor: the Spinal Muscular Atrophy Foundation (Fundame), with which the family had contacted for help. When the entity sends a letter to the hospital taking an interest in the case, the situation unravels. In just a few days, all the procedures are completed and the baby receives Zolgensma, the treatment chosen by the medical team and the family from the beginning, when he is almost two months old and seven weeks have passed since the detection of SMA and five from the confirmation of the diagnosis.

According to hospital sources, “the baby has had a good response to treatment, despite everything that has happened, and its evolution, with all the precautions that these cases require, is encouraging.”

The resolution of the patient’s case did not mean, however, the end of the tensions in the hospital, quite the contrary. The management of the center informed two workers of the opening of a file for the incidents that occurred during the efforts to start treatment. One of the workers was the pediatrician who had sent the messages to management. The other is the person in charge of the Eastern Andalusia neonatal screening laboratory, the biochemist Raquel Yahyaoui, who was the one who detected the case and who has been removed from office.

Despite having announced it to those affected, the hospital did not open the file, but instead referred the case to the Prosecutor’s Office. A spokeswoman for the Health Department of the Junta de Andalucía, as head of the hospital, confirms that “the Prosecutor’s Office has opened proceedings” and points out two reasons: the disclosure of confidential data and the problems that arose during the administration of treatment. While the Prosecutor’s Office was taking its first steps, the hospital manager, María del Mar Vázquez, resigned on February 13.

The dismissal of Raquel Yahyaoui, one of the most respected specialists in Spain in neonatal screening, has provoked a strong social response and among hospital professionals. In various acts and letters of protest, doctors, scientific societies and relatives of patients with metabolic diseases have demanded that the Junta de Andalucía reinstate her in office. Yahyaoui has also received the explicit support of renowned experts such as Federico Mayor Zaragoza and the director of the Molecular Disease Diagnostic Center, linked to the Autonomous University of Madrid, Magdalena Ugarte.

The complaint to the Prosecutor’s Office of the two workers has been received with surprise and anger at the hospital. Although the two affected prefer to remain silent, sources in the center consider it a “smoke screen” to cover the delay in the authorization of the drug. “The management received the arrival on the scene of the patients’ association very badly, although that is something the family did. Perhaps he also did not agree with the choice of Zolgensma as a treatment, but this is something that is incumbent on the medical and family teams.

The Junta de Andalucía has declined to provide more details about the case, alleging that it is “under investigation”.