Spinal muscular atrophy (SMA) is a rare genetic disease that severely affects the lives of people who suffer from it as well as the lives of their families and caregivers. Not only does it affect movement, breathing, and eating, it also changes routines, expectations, and life projects.
As a pediatric neurologist, communicating this diagnosis is one of the most difficult tasks. We see firsthand how the hereditary condition changes certainties, damages illusions, and forces family life to be completely reorganized from that day on which confirmation arrives. Being diagnosed with a disease like spinal muscular atrophy is one of the most emotional and impactful moments in my medical practice. It is not just reporting a genetic condition, it is an attempt to accompany a family that sees in seconds certainties, plans and dreams collapse. The vulnerability of those moments is recorded forever: the parental gaze, the silence that transcends any word, the effort to contain, preserve, and explain with humanity.
Spinal muscular atrophy (SMA) affects not only the patient, but the entire family. Almost without looking, mothers, fathers, siblings, and grandparents become expert caregivers. They administer medications, coordinate consultations, solve paperwork, and adjust ventilators, all the while trying to work, parent, maintain relationships and sustain lives that are forever changed.
The physical, emotional and economic burden is enormous: sleepless nights due to ventilator alarms, anxiety and uncertainty. Prolonged hospitalizations, uncertainties about the future, costs beyond any budget, treatments, transfers, leaving work, being absent from work, and personal lives are temporarily on hold.
Leaving caregivers out of the conversation about SMA would be unfair and a biased view of the disease. Caregivers of this and many other chronic conditions need and deserve public policies that recognize and reduce this burden.
Time is crucial: newborn screening and health equity
But amid the noise, something essential also emerges: hope. The arrival of disease-modifying therapies has transformed a previously hopeless scenario. Today we can talk about treatments that change the natural history of spinal muscular atrophy, allowing the child to sit, move and even walk, when previously the diagnosis was devastating. However, none of this helps if we delay: nerve damage begins before the first symptoms appear. Therefore, diagnosis after the first clinical presentation means, in part, a missed opportunity.
Newborn screening allows us to detect spinal muscular atrophy (SMA) before deterioration progresses and treat the baby while he still has healthy motor neurons. Many countries have already incorporated this test, with clear and conclusive results.
This week marks the 25th anniversary of the Newborn Screening Program (PPN) in Buenos Aires. In Argentina, Congress is making progress in including AME National Newborn Screening Program. Senator Edith Terenzi’s bill, which amends H.R. 26279, received unanimous approval in the Senate: 70 votes in favour. The goal is simple but transformative: for all newborns in the country to have access to testing, regardless of where they were born or what coverage they have.
This procedure is quite fair. It gives all children the same opportunity to receive treatment when it can truly change their future. Beyond the numbers, it represents a clear gesture: recognition that SMA deserves public policies that match its impact, and that we as a country can and must act before the damage is done.
Newborn screening not only improves the lives of each child who is diagnosed. It also changes the style of their caregivers, reduces health system costs and avoids hospitalization and intrusive support. It invites us to think about what kind of society we want to be: a society that acts in a timely manner and prioritizes care, or a society that waits to fix what could have been prevented.
Before and after: treatments that changed history
The discovery of the genetic mechanism of spinal muscular atrophy in 1995 was a turning point. Since then, science has advanced impressively. In 2016, the US Food and Drug Administration (FDA) approved the first disease-modifying therapy, Nusinersen. Then gene therapy was added Onasmnogen apiparvovec Then the first oral medication risdiplam. Everyone is seeking, in different ways, the same thing: increasing SMN protein and protecting motor neurons in a timely manner.
The results are impressive, especially when you start treatment. Before symptoms appear. Seeing a newborn treated before symptoms appear moving, sitting and even walking confirms that we are facing a paradigm shift. Far from this ideal scenario of treatment before symptoms appear, we must be alert and seek early diagnosis; Those who are already showing symptoms can stabilize or improve the more quickly we treat them, something that would have seemed impossible a few years ago.
In Argentina we have the three approved treatments, Nusinersen, risdiplam And gene therapy Onasmnogen apiparvovec. With regard to gene therapy in particular, progress has been made on a sustainable and equitable financing model that includes patients from the public and private sectors, with a shared risk agreement. In these cases, the state only pays for treatment if it shows real results and an effective mechanism to ensure access without jeopardizing the sustainability of the health system.
This agreement includes strict standards; Confirmed diagnosis, up to three copies of SMN2less than nine months of age, adequate levels of antibodies to AAV9 (the viral vector that carries the treatment) and absence of prolonged ventilation; It has been added to a transparent process evaluated by the Ministry of Health and the National Commission for Patients with Spinal Muscular Atrophy (CONAME). The laboratory that developed the treatment is responsible for the training and does not influence the patient’s choice.
This combination of newborn screening and sustainable access mechanisms generates, for the first time, a virtuous circle: diagnosing early, treating when it really matters, and doing so with concern for the health system.
Looking forward
SMA faces a historic moment: for the first time we have the tools to change the lives of patients and their families. But this progress will only be meaningful if it reaches everyone, without distinction of geography or resources. We’re not just talking about a rare disease: we’re talking about collective responsibility, turning scientific knowledge into an act of compassion and justice for every child and their family.
The possibility of offering a real opportunity and a different future does not erase the impact of the diagnosis, but it illuminates the way with a new horizon. For those of us who work in pediatric neurology, the ability to say “there is something we can do, and we must do it quickly” is undoubtedly one of the greatest achievements of modern medicine.