When pregnant with Clara, Carla could barely feel her kicks. As a newborn, Clara was quiet, moved little, and struggled with tummy time. Their paediatrician dismissed any concerns. First-time parents Carla and her husband had little experience with newborns and lived far from family. But in the spring of 2021, when Clara was two months old, COVID-19 travel restrictions in Spain eased and they were able to visit their relatives. Clara and her little cousin were born weeks apart, but the difference between them was striking. The boy was constantly moving and, in Carla’s words, Clara looked “like a doll” in comparison.

Carla consulted two general paediatricians who reassured her that nothing was the matter. Frustrated, she visited a physiotherapist to help Clara’s motor development. Mere minutes into the consultation, it became apparent to the physiotherapist that Clara needed to see a neurologist immediately.

A few months after Clara had started treatment, Spain had finally approved the one-shot therapy, advertised as having lifelong efficacy. Approval for access, however, was heavily restricted, far beyond EMA label recommendations. Only babies diagnosed with SMA type 1 and below 9 months of age were included, against the European approval under 2 years and with a clinical diagnosis of SMA type I or up to 3 SMN2 copies. Clara, only 8 months old at the time, was excluded on the grounds of having received a different treatment before.

These restrictive criteria withstand to date, and switching or combining SMA medicines is prohibited in Spain. But Carla still felt that she had to do more. She was anguished by the possibility of losing access to the medicine that Clara was receiving and that she would have to receive her whole life. In Spain, there were precedents of patients losing access to ongoing therapy when not performing sufficiently on outcomes measures. Similarly, a simple cold could turn into pneumonia and lead to a tracheostomy, which would exclude an already weak child from medicines.