A rare, life-threatening genetic disease can be detected at birth, but screening is needed nationwide. There is treatment for spinal muscular atrophy, and children treated early – otherwise condemned to death or a life of captivity in their own bodies – have a chance at normal development.
AMS can be detected by a test from the sample taken from the newborn PHOTO: Pixabay
The specialists who in the last three years have developed in Romania a pilot screening program for spinal muscular atrophy (SMS, or SMA in English), a rare genetic disease (it has an incidence of 1 in 6,000 – 10,000 newborns), very serious, demand the expansion of the program at the national level, citing the recorded results as an argument.
The particularly important topic was recently discussed in a “Share Experience 2025” webinar organized by the National Alliance for Rare Diseases Romania and the Romanian Association of Rare Cancers and hosted by the Pacientul 2.0 platform.
Dr. Elena Neagu from the “Dr. Nicolae Robănescu” National Clinical Center for Neuropsychomotor Recovery for Children spoke about the importance of screening for this disease and the results obtained within the pilot program.
The geneticist explained that the center’s experience in treating this disease is rich, over 100 children have been treated here, but it is important that the disease is detected very early, even before the signs appear, so that the children have a chance to develop normally. Or for that screening is needed.
From 2022, at the “Dr. Nicolae Robănescu” National Clinical Center for Children’s Neuropsychomotor Recovery, a screening pilot program is underway, in the last three years more than 65,000 newborns have been tested at birth, which represents approximately 10-15% of all newborns in Romania.
The pilot program started with the support of the associations of parents who have children affected by spinal muscular atrophy and who wanted other parents not to repeat the ordeal and pain they went through, but to benefit from the maximum treatment, explained Dr. Elena Neagu. Treatment for spinal muscular atrophy is currently settled by the National Health Insurance Agency (CNAS), but the first step should be early detection of the disease.
How the screening is done. “The equipment is basic for any ordinary laboratory”
The testing could be done in many laboratories in the country, because “it is nothing special”, said Dr. Neagu.
“We used here, at the “Robănescu-Pădure” Center, the already existing infrastructure of a laboratory for molecular diagnosis of COVID. There are many such laboratories in the country, it is nothing special. The equipment is basic for any ordinary laboratory”showed Dr. Elena Neagu.
In 2022, in the pilot project, collaboration with four maternity hospitals in Bucharest began. Screening is done from blood samples taken from babies in the maternity ward, which are analyzed in the laboratory, similar to other screening programs.
“For babies that are born, you know that at a given moment, close to the baby’s discharge from the maternity ward, a little blood is taken from the heel for certain tests, tests that are intended to detect diseases that the child does not yet express clinically, but diseases for which you can intervene in time and obtain the maximum expected effect for the child’s health. In Romania, there is currently screening for phenylketonuria – a disease that causes severe intellectual disability, for congenital hypothyroidism and for cystic fibrosis. They are made from that spot of blood and it is very important, because it can be intervened early. We, through this pilot program for spinal muscular atrophy, campaign for the introduction of this disease into the National Screening Program, a program supported by the Ministry of Health. We want this expansion all the more as the infrastructure is created for this pathology. There are treatment centers, there are specialists and, as I said, the happy state of affairs, there are the three treatments available to doctors, ready to be used on patients.” added the geneticist.
28 maternity hospitals included in the program, from all over the country, 14 cases identified
The pilot program was started by collaborating with four maternity hospitals in Bucharest, and after three years of the project the number increased to 28. There are maternity hospitals from several counties of Romania: Bucharest, Ilfov, Călărași, Giurgiu, Teleorman, Constanța, Vaslui, Maramureș, Prahova. During this time period, more than 65,000 children were tested, 14 of them being identified with a positive screening result, later the result being confirmed by the genetic test. The doctor emphasized that the screening raises the alarm signal, but does not establish the diagnosis, other stages are subsequently carried out.
The doctor also talked about the moment when the result is sent to the family (it should be noted that the results are sent only in cases with a positive test), revealing that it is the most difficult. The parents find out that it is a serious disease, although nothing is suspicious when they look at their newborn baby.
“By the time you can explain to them that it is a treatable disease and treatments are within our reach, the family is in despair. And it is an extremely difficult moment, both for them and for us as a medical team, to tell them that the baby in their arms, absolutely healthy and clinically consulted without any signs, has a genetic mutation and requires treatment to be safe from a serious disease”Dr. Neagu also said.
By expanding screening, families in the unfortunate event that their child has a positive result would benefit from the maximum effects of treatment possibilities, no longer having to go through the psychological, financial and physical trials generated by the onset of disease symptoms and hence limited possibilities for recovery. Including for the state the expenses would be lower, the costs of treating spinal muscular atrophy when the disease has progressed being huge.
“It’s an extraordinary chance for a disease that until 5-6 years ago was a sentence”
Doctor Elena Neagu explained the difference between detecting a case from birth, before the symptoms set in, compared to situations where the disease has started to manifest itself and can even threaten the child’s life.
“Once a child has become symptomatic, manifesting the disease in its entirety, he needs special care, he may need respiratory support, he may need support in the way he feeds. Because in this disease what suffers a lot are the muscles. The child cannot move, the movement is impaired. And we’re not just referring to the movement that allows a child to hold their head, sit on their bottom, take their first steps or run, but also the movement we make when we swallow, the movement our chest makes when we breathe in and out. All of these – movement, locomotion, breathing and swallowing or deglutition – are affected, all of which require special care, special assistive procedures, with very high costs. These children suffer from many respiratory infections, they end up in intensive care units. It is a torment and an ordeal for them. So starting from this simple gesture, collecting a spot of blood, performing this genetic screening test, performing the genetic test of certainty and then applying the treatment, what do we do for the child? The child will have a chance to develop absolutely normally. All engine purchases will be made on time. As all ongoing studies point out, children followed over many years have the chance to develop absolutely normally and to be in no way different from the children in the family or around them”explained the doctor.
It is true, it is a rare, very serious disease, out of many other serious diseases for which professionals are working to find the best solutions, but “we are in some happy times, because we have gene therapy at hand for this disease,” the doctor emphasized.
The practice of other countries that implemented national screening programs a few years ago showed that doctors no longer encounter such a serious disease. It cannot be eradicated, the doctor also pointed out, but the symptoms no longer exist, thanks to the treatment instituted very early, which allows the children to develop normally.
“It is an extraordinary chance for a disease that until 5-6 years ago was a sentence. In this disease, children without treatment, in its severe form, may die by the age of 2 from respiratory failure. Everything is tragic and dramatic about this disease. And yet, in Romania we have these treatments, I still have to apply early”, added the doctor.
Today there are treatment centers in Bucharest, Constanta, Iasi, Sibiu, Cluj, Timișoara. There is an existing and well-established infrastructure, families adhere to the program, so there are all the conditions for the pilot program to be expanded at the national level, Dr. Neagu also pointed out.
Moreover, today 95% of rare diseases have no treatment, but this is not the case with spinal muscular atrophy.
The cost of the screening, under 1.5 million euros/year
The cost of testing in the screening pilot program was 35 lei/sample, which means that at the level of the entire country, considering the number of newborns, the testing would cost less than 1.5 million euros annually and would bring the hope of a normal life for cases detected before the onset of symptoms.
The results obtained in the case of screening that do not raise any question marks are not communicated to either the parents or the neonatologists. The situation changes only in the case of positive tests, when it is mandatory to contact the parent. He is informed that the screening test is not diagnostic, but raises the suspicion of a disease. Confirmation is done in a treatment center where there are experienced professionals and where the child is clinically consulted and blood samples are collected for a genetic test of certainty.
“Although as a parent, as a family, you can have the feeling that you are thrown into a hole, in a situation with almost no way out, what we try, through discussions, and explanations, and through materials that we make available to parents, is to make them understand that it is indeed a serious situation, but that over this hole, over this chasm, there is a bridge which is the treatment and the medical team that applies it. And which will later support the family. That actually delivers the screening. A very big helping hand for a given situation”, concluded doctor Elena Neagu.
