In October 2021, on a normal Thursday while I was still on my maternity leave, I noticed Agnes, our 8 month old daughter, do a funny movement in her bouncer chair. She sort of shrugged and raised her arms, and looked upwards at the same time. She did this a few times in a row, and then stopped. I didn’t think much of it.

The next day she did it again, and I mentioned it to my husband. He suggested I try to film it on my phone if it ever happened again. The following day she had eight clusters of the movements throughout the day.

We decided to contact the GP on Monday to get his advice, to rule out anything sinister.

That night I decided to Google Agnes’ movements. I don’t remember exactly what I searched, but it was something along the lines of 'baby lifting arms and rolling eyes'. I did it to reassure myself that everything was normal.

The first link that appeared was a link to a charity called UK Infantile Spasms Trust. The website had a video at the top, a compilation of babies experiencing the condition. I watched the video and my stomach dropped. The children in the video were doing exactly what Agnes had been doing. The video explained that Infantile Spasms (IS) is a rare seizure disorder, with just 400 children diagnosed each year in the UK. It said that Infantile Spasms is more serious than other seizures because children with the condition have a ‘chaotic brainwave pattern’ which causes a loss of skills and brain damage. The longer the spasms go on for before they’re treated, the greater the impact is on their future development, and if you suspect your baby has IS, the video said to take them to A&E as a priority.

We spent a week in hospital and Agnes had a brain scan to look for tumours which thankfully came back as normal. Her EEG showed she had a chaotic brainwave pattern, and with that along with the videos we provided as evidence, she was diagnosed with IS and started on treatment. 

Part of her treatment was a very high dose of steroids which caused her immune system to drop to zero (meaning we had to spend four months in complete isolation from friends and family). They caused her face to puff up and she stopped smiling, which was a horrible side effect. She constantly groaned, seemingly in pain, and seemed to take some steps backwards in terms of her development. She stopped rolling and babbling like she was before we went to hospital. We felt
completely helpless and just hoped more than anything that she’d return to her normal self once the treatment stopped.

Thankfully, after finishing the steroids, she slowly started smiling again. She had a repeat EEG which showed her brainwaves were normal and there was no seizure activity. We came out of isolation in February this year and she seemed to develop more thanks to spending time with new people and in new places.

About six months after Agnes began treatment, her blood tests were screened for genetic problems, and she was found to have a chromosomal abnormality. They’re not yet sure if this is what caused the IS and the geneticists are in the process of doing further testing of Agnes and also myself and my husband. The geneticist has provided us with a long list of conditions Agnes is predisposed to due to her chromosomal abnormality, but we’re learning to balance our concern with enjoying being with her. We’ve been told she’s likely to face other kinds of epilepsy - and possibly autism - as she gets older, and she’s delayed on her movement, speech and communication skills. But she’s turned into a really happy – some would say naughty – 18 month old, who laughs all the time.

We often reflect on how lucky we are that my husband thought to film the episodes, and that I decided to Google her symptoms, both of which led to really quick diagnosis and treatment. I’m part of a UKIST support group for parents of children with IS, and I’ve seen such a range of different outcomes for children, partly due to how quickly they’re diagnosed. They say each GP sees one case of IS in their career, and it’s often mis-diagnosed or confused with less serious conditions such as reflux, which is part of the reason why we want to do this - to raise awareness of the condition.

The UKIST leaflet we were given when she was diagnosed told us that IS has a 60% recurrence rate, so we’re never complacent about her condition, and always keeping an eye out for new seizures, but we can’t help but think how lucky we are that she’s so happy and seems so well at the moment, so we’re just taking each day as it comes.

The UK Infantile Spasms Trust (UKIST) provides a vital network of support to families with children affected by the rare seizure disorder Infantile Spasms, also known as West syndrome. This is a serious seizure disorder, and unless it’s recognised and treated early, the prognosis for affected children can be very poor. The charity offers a lifeline to anxious parents via its online community, and works alongside medical professionals to raise awareness of this little-known condition. By supporting UKIST, you will make a real difference.