Leo’s story has been written by his mum, Justyna.
The day we found out I was pregnant with Leo was one of the happiest days of our lives. My pregnancy was normal. I gave birth at term in April 2023 to a healthy and strong baby boy who brought so much joy to our lives from the second we met him! Leo was growing and developing as expected, hitting all the milestones and we were genuinely very grateful because, apart from sleep deprivation, Leo was a very “easy” baby.
But after he turned 5 months old, things began to change. Our happy, smiley boy became very withdrawn and sad. He didn’t enjoy his baby groups as before and he stopped making eye contact and smiling. Most noticeable for us was his uncontrollable crying because normally he would settle down quite easily with a feed, nursery rhyme, or cuddles, but he became inconsolable.
Then one afternoon on the way back from a family trip, I noticed some strange movements and eye rolling whilst we were driving home. I felt this overwhelming fear and just knew in my gut that there was something terribly wrong going on with my precious boy. I asked for advice from friends and family, trying to stay calm, but they all said he was fine and I should just calm down. When I saw the movements come back a few days later, I decided to take him to see a GP. I described how he would suddenly jerk his body forward and flex his arms and legs. I told the GP I was very worried about the eye rolling and sudden change in his behaviour. I showed her some videos that I’d managed to take too. “Luckily” for us he had a seizure whilst he was being examined. The GP didn’t think there was any reason to worry and sent us home claiming he had a tummy bug. I came back the next day because the spasms were becoming longer and more frequent and I just knew if we didn’t get help it would be detrimental to Leo. A different GP saw us but again, with a lack of awareness of his symptoms, she sent us home. I was adamant something was wrong neurologically (especially with the eye rolling I was seeing) so that GP referred us to see a paediatrician in the next 2 days. After some encouragement from my sister-in-law, we rushed to the A&E. A few hours later we were told that they suspected Infantile Spasms but needed to do a further investigation. Once the EEG confirmed hypsarrhythmia his neurologist formally confirmed
his diagnosis and started Leo on a combo of prednisolone and vigabatrin. The spasms stopped on day 2 of the treatment which was such a miracle. He also had his MRI and metabolic disorder blood tests done to find any underlying medical issue that could have contributed to his IS.
We were kept in hospital for 10 days and then continued treatment at home, which for us was the hardest part because our Leo as we knew him was not there. He became even more withdrawn, had an increased appetite which was very hard to manage and mood swings which were very testing. I remember feeling so powerless and overwhelmed with worry about his health.
By chance whilst still in hospital I found the UKIST support page and started to connect with other parents who understood our journey. I remember bursting into tears when I found some positive stories of other babies with IS, and for the first time I felt that there was some hope.
Fast forward 12 months, Leo is doing fantastically well. He just turned 17 months, started crawling just before his first birthday in April and is now starting to pull himself up. He loves
playing with other kids, is very friendly and clever with an infectious smile and his curiosity is neverending. His strength, bravery and resilience make us so proud to be his parents.
