Real-life stories
Meet Bella
Bella and the importance of SMA awareness among all healthcare professionals
Bella
Akrivi is a 36-year-old obstetrician and mother of Bella, a four-year-old who lives with SMA in Greece. Bella’s was a tranquil, yet sought-after pregnancy. After two miscarriages, Akrivi took foetal DNA tests as a precaution, but these came back clear, because SMA is not routinely tested for. The pregnancy progressed well, ending with a physiological birth. Bella was born a healthy, quiet baby, and initially developed like a typical child. She started sitting at 6 months and learned to roll over. She did not crawl, but many babies do not crawl.
In 2021, people still minimised social contacts and physical interactions because of the COVID-19 pandemic, especially with young infants. One day, however, during an outing, a friend asked Akrivi to hold her baby, only a few months older than Bella, for a moment. In an instant, an alarm bell rang for Akrivi. The boy felt very firm, while Bella felt like a plush toy.
Other warning signs started to appear. When Bella was 11 months, Akrivi noticed that her head control was weakening. Her general paediatrician judged that the baby was bored and needed to be stimulated more. A medical doctor herself, Akrivi grew frustrated. Something felt off, yet everyone around her told her she was just being anxious and everything was okay, an old refrain that many parents of babies with SMA hear.
Akrivi and Bella moved from their island of origin, where the rest of their family lives, to the capital city of Athens, for Akrivi’s job. A larger number of specialised doctors were available here, and Akrivi decided to see a paediatric neurologist. This first doctor told her she should have come even earlier and started investigating possible diagnoses. Despite conveying the sense that time was of the essence, however, the doctor moved slowly, and it took weeks before the first blood tests and electroencephalogram, investigating metabolic conditions, were prescribed. Akrivi therefore decided to move on to a second neurologist, renown nationwide. Based on this doctor’s judgement, a neuromuscular condition was to be excluded and was not investigated any further. In fact, even though Bella had an appointment for an electromyography just a few days later, scheduled by the first neurologist, the new specialist tore the appointment papers, saying it would just be a waste of time. Further genetic testing was prescribed.
The second neurologist diagnosed Bella with mild global developmental delay, an umbrella diagnostic category used for children who show delays in two or more areas of development, including motor, cognitive, speech and language, or social skills. The doctor predicted this would resolve by the age of four, but Akrivi did not see this being possible. With an intensive regimen of physiotherapy and aqua therapy, Bella became stronger but still did not hit the expected motor milestones. Cognitively, she was developing typically. Based on detecting a PPP2R5D gene mutation in both Bella and Akrivi, the second neurologist explored an associated diagnosis manifesting with hypotonia. However, this condition would also have presented with issues in cognitive development and other symptoms that were not present in Bella. So, the mutation was eventually labelled as of no clinical significance and Bella remained, essentially, undiagnosed.
When Bella was around 18 months, she developed tremors in her hands. The doctor dismissed as physiological fidgeting caused by the immaturity of her nervous system. Akrivi asked specifically about a diagnosis of SMA because, as a medical resident, she had been fascinated by the advent of disease-modifying therapies and remembered the condition clearly. Despite her insistence, the neurologist excluded her without further testing.
So far, Bella had seen a general paediatrician, several physiotherapists and rehabilitators, and two neurologists. None of them had even suggested testing for SMA. Yet, when, disheartened, Akrivi took Bella to a third neurologist, this specialist recognised her as presenting a very typical image of SMA as soon as they saw her.
Bella’s SMA diagnosis was confirmed at 26 months, more than a year after the beginning of her diagnostic journey. Fortunately, she was able to start treatment through SMA medicines within two months, but the delay with the diagnosis closed some therapeutic options for her.
The biggest impact of Bella's story on me is that if we had encountered the right support at the right time, Bella's journey might have unfolded differently, giving her more opportunities earlier on."
For instance, she was excluded from one of the therapies based on her age and on being on the edge of the weight-limit that this medication is approved for. Just a few months earlier, this opportunity would have been open to her. A clinical trial for this medication was recruiting patients, but participating would have meant that Bella could be assigned to the placebo arm of the trial and only receive the medicine at the end of the study, after one year later. Given how precious time is in SMA, Akrivi was not willing to further delay treatment, and Bella got started on one of the other disease-modifying medicines.
Indeed, wrong timing seems to be a red thread in Bella’s story. As a mother, Akrivi cannot help but wonder. What if the doctors had listened to her concerns? What if they had done the electromyography? What if the genetic testing had been more comprehensive? What if a newborn screening programme had been active in Greece?
Akrivi has been sharing her story actively, including to support advocacy towards the implementation of a national pilot newborn screening programme, which was finally launched in Greece in 2024 alongside a pilot programme for carrier screening in two Greek islands.
Treating SMA through medicines can change the life course of people living with SMA at any age. Treating early, before the degeneration of motor neurons begin, can make an enormous difference: early screening is therefore key.
But screening alone is not enough. To Akrivi, early detection needs to be integrated with education for all healthcare professionals who meet parents of children living with SMA. Only well-informed professionals can paint a complete picture of what SMA can look like with SMA medicines and correctly inform parents about the possibilities that are open to them. Indeed, since the approval of the first medical treatments in 2017, the history of SMA has utterly changed, and the future is open for possibilities.
Although the challenges Bella and Akrivi have faced cannot be undone, the experiences have given them a deeper understanding, and they are committed to using them to make a positive impact moving forward. Today, Bella grows up as a happy and resilient child. She enjoys daycare, swimming, and playing with her cousins. Though challenges related to accessibility and specialized care mean she and Akrivi remain in Athens for now, they stay connected with their family and are part of a supportive community that ensures Bella gets the care she needs.
Together, they look forward to more exciting developments in the field of SMA, while actively advocating for an inclusive and accessible world.
Interview conducted on 24 February 2025
Thorough and accurate education about SMA is necessary among all healthcare professionals who interact with SMA families, whether they are still waiting for a definitive diagnosis or are newly diagnosed.
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