Real-life stories
Meet Clara
Clara and the importance of early diagnosis
Clara
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.
"We were lucky to find a physiotherapiest who was very young, but capable. Surely it was the first time that she saw a baby with SMA in her life, but it took her three minutes to understand".
The next month went by in a heartbeat. The neurologist diagnosed SMA via myogram, soon confirmed by genetic testing. The doctors walked Clara’s parents through the possible therapies. In fact, there was no choice to be made: only one of the three EMA-approved SMA medicines was available in Spain at that time. For other options, Clara’s parents would have had to apply for compassionate use programs, but a newborn with SMA had recently passed away, in Spain, while waiting for an answer. There was no time to lose. Four-months-old Clara received her first medicine only weeks after receiving the diagnosis. In Spain, many other babies with SMA are not as lucky. They face much longer waits that delay diagnosis and access to treatment. These processes are in desperate need to be expedited, so that treatment can begin as soon as possible.
With treatment, things started to improve. Clara was sitting at 12 months, standing with support at 20 months, and walking with support at 24 months. At two and a half, she started standing by herself for a few seconds.
Despite seeing good results with the treatment, Carla still sought peace of mind. The medicine that Clara was on required regular administrations and recent events had Carla reflect on how the unpredictability of life may affect her child.
"After what happened with COVID, look what happened in Ukraine. If in two years we are in World War III, who would give my child medicine? What would happen to her?"
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.
"I depend on an administration that needs to be willing to continue give my child the medicine. As a patient, you feel very helpless. The stress that is caused to families by having to meet the expected outcome measures, that your child must be well and cannot get worse because they can take the medicine away."
So, Carla had not given up on seeking treatment options. She found and applied for a clinical trial for Clara to receive the “one-shot” medicine with long-lasting effects. Clara successfully received the drug shortly thereafter and her motor skills continue to progress.
But even after this treatment, Carla is unsure whether her search for medicines will stop. The thought of forever relying on the experimental medicine is perplexing to her because evidence of long-term efficacy is still unavailable. Even if this were allowed in Spain, going back to the previous treatment or initiating a different medicine after the one-shot would also have uncertain outcomes, since data on risks and benefits of combining therapies are only now being tested.
The lack of solid scientific evidence amplifies uncertainty and feeds into access restrictions.
Instead of depending on medical criteria and on the choice of the family, right now we depend on protocols that do not gove final answers and are not clear, in many cases.
Access decisions often fall upon administrative authorities, who operate amidst a lack of solid scientific evidence for best practices in switching or combining medicines. This means that decisions tend to be conservative, depend on individual bureaucrats or on doctors and families’ willingness to put on a fight and ask for extraordinary measures to be approved.
Today, Clara walks a few steps but cannot talk. Carla’s quest is not over. Still, she feels lucky. If it were not for the young physiotherapist, in the absence of nation-wide newborn screening, Clara’s life would be very different today. Indeed, early diagnosis should not be a fortunate coincidence.
Interview conducted on 9 May 2024.
Newborn screening and early treatment are crucial to improve health outcomes in SMA.
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