This is Cerys and this is her story, written by mum Delyth.
Cerys was born in March 2012 at 39 weeks after a very straightforward pregnancy and uncomplicated birth. Due to other conditions I suffered with in the past she was our miracle baby. I often think back to those first few months of Cerys’ life and if there were any tell-tale signs of illness. I can’t say I remember any. Cerys was developing as she should, and she was a happy, contented baby.
In late September 2012 we excitedly set off to Majorca, our first family holiday abroad (a place that for years after I refused to consider as a holiday destination). Despite normally being really good with dates, this is where my memory becomes sketchy. I’m not sure how long we had been away for when I commented to my husband, Paul, about a strange jerky movement I had witnessed her doing. It was like she has been startled. I also remember commenting that it seemed familiar! Over the next few days we started to notice that, whilst Cerys still seemed happy, we were seeing more of the jerky movements and on some occasions these were upsetting her. We took her to the resort doctor who checked her over and gave us a prescription for a nasal spray suggesting she had a cold, but we may want to see our UK doctors on our return home.
Not convinced by the doctor’s assessment we decided to google her symptoms and that is how we came across IS on a YouTube video. What we saw and read was not pleasant and all rather doom and gloom. I am not a fan of using Google to self-diagnose but do feel on this occasion it was the prompt to get help that we needed rather than delay and was potentially our life saver. We called our airline to see if we could get home sooner but nothing was available, so we decided to try and enjoy the last days of our holiday.
On our return to the UK, we dumped our bags at my mums, said a quick hello to our dog and headed straight to the children’s A&E department at our local hospital. We were seen that night by a number of people. Some had knowledge of Infantile Spasms, some had never heard of the condition. It was an older nurse who saw us in children’s A&E and a young registrar who first assessed us on the ward who recognised the movements Cerys was doing and suspected infantile spasms and we were admitted that night. We have often said how lucky we were to meet two health professionals on the same night who could recognise the symptoms. That night they took blood from her tiny body and also did a test where they had to turn the light off and shine a UV light over her skin. The next day we spoke to a consultant and Cerys had an EEG, more blood tests and a lumbar puncture was arranged. I don’t recall the exact day that they delivered the news that Cerys did indeed have Infantile Spasms and that she needed urgent treatment. Our hearts shattered that night! Our precious, beautiful baby girl was seriously poorly, and her prognosis was unknown, we were told to prepare for the worst case that she may not live beyond 4 years old. We had already read on Google that this condition could be life limiting, but hearing this directly from the consultant about our little girl was earth shattering.
Later Cerys had to be heavily sedated to keep her still while she went for an MRI scan to determine if there was an obvious cause to the I.S. This whole process and the potential life limiting news as one of the potential outcomes was traumatic for us. Seeing how upset we were by all this the hospital team were amazing and worked to get the evaluation by an external expert done quickly. Cerys’ result was the one we wanted with no underlying cause, there was a possibility of a positive outcome, her I.S. was less likely to be life limiting.
The hospital informed us of a trial by the name of ISIS that was ongoing which looked at the which form of treatment had the most positive outcome and asked if we would consider allowing Cerys to be registered onto it. We agreed.
The trial was randomised and not all children would get the combined drug treatment, again we were lucky, the Consultant informed us Cerys would start on the combined treatment of Vigabatrin and Prednisolone that same day.
We had to stay in hospital for a couple more days for observation but within 48 hours of starting the treatment, the violent spasms that Cerys had been having several times a day started to become less severe and then stopped. The medication seemed to be working but not without side effects. Cerys had to be prescribed an antacid as the medication was giving her tummy ache. Cerys
also ballooned in weight, she was crankier, she was hungry more often (it was like having a newborn again) and she was more susceptible to sick bugs, coughs, colds etc. I don’t recall us being told to stay away from people but we did all go and get a flu jab and were told to avoid anyone who had chicken pox.
Cerys was on medication for several months and weaning her off was thankfully straight forward. She had further EEG’s, Health Visitors visits and numerous follow up hospital appointments and we kept in contact with our epilepsy nurse. We also had a couple of calls from ISIS to track her progress.
Cerys was finally discharged from the hospital in October 2013 with the best news that they had found no underlying reason why she had had IS and she was being discharged.
We are eternally grateful for the care that we received from our precious NHS and most of the care professionals. I say most because there was the idiot registrar who didn’t believe that Cerys had IS because and challenged our assessment of how well she had been developing and reaching her milestones.
Possibly worse still, there was the trainee doctor who actually said to us “I was actually going to say to you at least it’s not cancer but that’s probably not appropriate”, while in hindsight we wish we’d reported this at the time our minds were on more important things.
We are lucky that the spasms never returned, and Cerys is now a healthy, happy 11-year-old. I chose to write this article for October I.S warrior as this month Cerys will be 11 years spasm free. She is now in her first year of high school and throughout the years has amazed us with her different sporting and academic achievements. She left junior school with an amazing glowing report, did exceptionally well in her end of year tests and was presented with an award from an external source for setting up a running club for fellow pupils at lunchtime.