Charlotte arrived in February 2023. She was one of the 591,072 births in England and Wales that year. The pregnancy had gone well with no major concerns and we were all excited for her arrival.
The next few months we got into new parent life and watched our baby girl grow. It was around September 2023 that we started to have concerns, when she was 7 months old. She had started sleeping a lot and every now and again appeared inattentive. The babbling that had started had disappeared and looking back things just weren’t right. Her social skills seemed to gradually worsen and she couldn’t hold eye contact with us, very unusual as she was such a happy and content baby prior to this. We got to October and we attended a pumpkin farm hoping for a nice baby photo, however Charlotte just didn’t interact that day – in hindsight she wasn’t present with us that day, she was fighting a battle we knew nothing about. She was reserved and though no spasms at this point she wasn’t the Charlotte we knew from previous months. We were concerned as development had seemed to have stopped.
A few days later, my wife noticed a spasm while feeding Charlotte, a really subtle but repetitive movement of her arms and legs simultaneously. 30 minutes later she had one in my arms. We didn’t know what they were at the time but knew it wasn’t right. We decided we would go the GP first thing. The next morning more spasms happened including eye rolls / head drops and we had an appointment literally as the GP surgery opened. We saw a young doctor who we’ll be forever grateful for. He was happy with Charlotte as all tests (heart rate / breathing) checked out but he wasn’t happy with what we were telling him and from viewing a video we had recorded. He asked we go home while he made some phone calls and he would get back to us. Less than 30 minutes later he called back asking us to attend Royal Stoke as Charlotte would be examined. We’ve now read so many stories of GPs dismissing initial concerns we realise how lucky we were.
We attended hospital and the spasms continued that day, the doctors arranged an EEG. While waiting for the EEG she had more spasms. A few hours later several doctors returned and took us to a private room and informed the results showed modified hypsarrhythmia and confirmed the diagnosis of infantile spasms. They were brutally honest on the possible long term outcome which was extremely hard to hear. We soon realised not every milestone was a guarantee and genuinely felt lost and heartbroken. The next few days were a whirlwind in hospital, an MRI scan was completed and the vigabatrin and prednisolone started. It was at this point we found the UKIST group and we started to research the condition / hear from other families going through the same thing. The group made it easier to understand as Google was not a positive read. We left hospital (who were fantastic) with a bag full of medication and started a new routine.
The next few weeks were extremely hard, during this time on prednisolone both Charlotte and my wife caught Covid which added extra stress. We leaned on UKIST and were able to ask questions to the group. It was a huge help. Things were tough, so tough we can’t quite remember how much but we do remember the moments small parts of her personality returned – like laughing at the dog chasing the ball. The spasms had stopped and the follow up EEG was positive. The first step of genetic testing was completed and this showed Charlotte has a carrier status of Krabbe’s disease which led to a few more follow ups.
When Charlotte finished the prednisolone she still couldn’t roll over and we made the decision to start physiotherapy treatment at Therapy Stars in Wrexham. Over the next few months they gave us exercises and were able to bring her along physically. Charlotte never enjoyed the appointments but we feel it was huge in helping her develop.
As time has gone on we’ve become more informed on the condition and though we still have follow ups and await the whole genome sequencing results we are all in a better place. The group continues to help and has given support for the journey ahead. Each journey is different but to have a network of people in a similar position is crucial. We have taken the opportunity to give something back by completing a charity walk and were able to meet other families at the UKIST event in August 2024. We’re also part of the BEE Study (learn more about the BEE study here) that will hopefully support future families with a better understanding of how the development of babies with early-onset epilepsy differs to typically developing babies, and how this is associated with later behaviour.
For now Charlotte is doing well, she’s just turned two and her personality is showing. Her language development is slightly behind but it is coming along and nursery reports are positive. I hope this write up gives any new parent to the group hope at a time so many emotions are present. Every journey is unique for all children with this condition. So we are delighted Charlotte is the April Warrior – she’s certainly our Ultimate Warrior!
