Sophia’s story is written by her mum Lauren.
Sophia was born in January 2025. For the first five months of her life, she was a happy, healthy little girl who was developing ahead of her milestones.
Then, everything changed.
At five months old, Sophia began having clusters of unusual movements. After seeing a video online of a baby experiencing infantile spasms, we began to suspect this was what we were seeing. By her third cluster, we had taken her to A&E, armed with our concerns and videos. We were admitted immediately, and an EEG confirmed our fears. Sophia had hypsarrhythmia, a severely abnormal pattern of brain activity associated with infantile spasms.
Within 24 hours, treatment had started. We were devastated by the diagnosis and immediately began researching, finding ourselves confronted with frightening possibilities around developmental regression and her future. The doctors reassured us that we had caught it early, and when Sophia’s seizures stopped within hours of starting treatment, we dared to hope things might be okay. Sadly, her seizures returned just a week later during the steroid wean, marking the beginning of a long and difficult journey.
Since then, Sophia has tried seven different medications and the ketogenic diet. Some treatments have brought temporary improvements, but none have given her lasting seizure freedom. Her epilepsy has continued to evolve, and she now experiences multiple seizure types, with doctors describing a progression towards Lennox-Gastaut syndrome (LGS), a severe and complex childhood epilepsy. On a good day, she can have around 20 seizures; on a bad day, close to 100.
Genetic testing has also identified an extremely rare, de novo variant in a gene called PHACTR1. No other cases of this specific mutation have been documented, so we are still trying to understand what it means for Sophia and her epilepsy. We hope further research will bring answers, not just for her but for other children with rare, difficult-to-treat epilepsies.
One of the hardest parts is watching other children Sophia’s age grow and develop. Before epilepsy, Sophia was developing normally. Since her seizures began, she has experienced significant developmental difficulties and regression. She struggles with everyday things most parents take for granted, including reaching for toys, holding her bottle, feeding herself and sitting independently. We celebrate every little achievement, but it’s impossible not to wonder what life might have looked like without epilepsy.
Yet we never want her diagnosis to overshadow the little girl she is.
Sophia is cheeky, determined and a complete thrill seeker! She loves being thrown into the air, going fast in her pram, feeling the acceleration in the car, loud noises and flashing lights. She recently experienced her first Ferris wheel ride and absolutely loved it! She smiles, babbles, occasionally laughs and continues to surprise us. Every little moment of engagement and progress means the world.
She has endured more in her short life than most people will experience in a lifetime, through countless seizures, hospital admissions, treatments and setbacks. We are unbelievably proud of her strength and resilience, although we wish she never had to be so strong.
We don’t know what the future holds, but we will never stop fighting for better treatments and answers. We also want other parents to recognise the signs of infantile spasms and seek urgent medical advice. We are so thankful we recognised what was happening and trusted our instincts. Seeing that video online prompted us to act when we did, and we hope sharing our experience might help another family do the same.
Our lives are very different from how we imagined they would be. Living with the constant worry and uncertainty is incredibly difficult, but above everything, we want Sophia to be happy, have the best quality of life possible and experience all the adventures childhood should bring.
Despite everything, she hasn’t lost her cheeky personality or her love of adventure. We hope she always knows just how incredibly loved she is and how proud we are of her. We will never stop fighting for her, celebrating her and giving her every opportunity to enjoy life.
