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Infantile Spasms Awareness Week - Noel's story

Baby Noel

For Infantile Spasms Awareness Week 2023, Tina Rafferty shared this piece with us about her son Noel's journey and diagnosis with Infantile Spasms...

Noel was diagnosed two days after his 1st birthday. 

He was born healthy and not long after he arrived, COVID arrived so there was quite a lot of new information to take in.

His development was normal, but I did have a close eye on him as he had a large head from the time he was a few days old. Every appointment we had went well and we were told if all’s well when he turns one, then it’s just his head size and nothing to worry about.

To be honest, I never worried as he looked normal and beautiful to me.

About 6 weeks before he turned one, I noticed he kept getting a fright for no reason at all. I remember giving out to my two older children to “stop scaring the baby” and them been annoyed telling me they didn’t do anything to him.

I then noticed he would do the same thing on his own – he’d just be chilling out and his arms would fly up past his head and his head would do a slight little bob down. I watched it for a couple of weeks thinking it’s startle reflex and that it was normal but something inside of me was saying that it wasn’t.

I remember thinking I was going crazy - they were so fast that I was the only one to see them. I never  anyone as I thought I sounded mad saying there was something wrong with him.  He was in good form – eating, drinking, no temperature - but I still found myself on doctor google asking “what age does startle reflex go at?”

This was when I first came across “Infantile Spasms - Medical Emergency.”

I clicked into it to have a read and was so scared by what I had read and the videos I saw. I immediately said no he doesn’t have that and clicked out of it. But every time I saw him do this movement, I was drawn back to google, and began to study the condition and learned it can present at any age and have different presentations but that it’s more common in younger babies so I still thought this couldn’t be happening to Noel.

Noel’s 1st birthday came along, and we had a lovely family party for him at home. The next day I said I’d just email his doctor and see maybe would she look at some videos I’d recorded of Noel’s movements that where concerning me and told her my concerns about Infantile Spasms.

I was advised to take him to hospital and pack an overnight bag. Infantile spasms are a medical emergency and can only be ruled out with a sleep deprived EEG. I’d collected a few videos of Noel’s spasms by this point to show doctors but knew from reading online that not all doctors are aware of IS and getting seen could be a challenge, so we packed a bag prepared to stay and went in.

When in A&E the doctors didn’t seem too worried but admitted him for testing once he passed a covid test. All the time I was thinking that I was a crazy mother and that we would be sent home having been told everything is fine. I told myself how at least I would finally have some peace of mind if nothing else.

We had an EEG and within minutes of leaving the room, the doctor was there with the results telling us that it was a chaotic EEG and that the epilepsy specialists would be with us soon.

Noel having tests done in hospital
Noel in the midst of his journey to a diagnosis of Infantile Spasms

I fell apart. I never imagined getting that news having convinced myself I was wrong and would be home soon. The consultant came and confirmed Infantile Spasms. Everything was kind of a blur after that. We spent nearly four weeks in hospital trying different medications and doses. Noel was a trooper through it all. He had steroid therapy which made him so hungry and grumpy but nothing some food and a bath didn’t fix -  he must’ve been in that little bath in the hospital room ten times a day! He was on so many medications and underwent more EEGs, MRIs, genetic tests etc.

We did training with the nurses around preparing and giving medication and got in touch with Epilepsy Ireland who the hospital told us could help us along the way.

We were finally out of hospital just two days before Christmas - with the biggest bag of medication and facing a new road in life. Because of the steroid therapy, Noel couldn’t be around many people as his immune system was compromised. We embraced another self-imposed lockdown to keep him safe and worked hard on helping him achieve his delayed milestones like crawling, babbling, walking etc. which Infantile Spasms can rob children of.

At one point Noel was having between 60-80 spasms a day before we got seizure control which took several weeks. It can be common that children with infantile spasms go on to develop other epilepsy types and Noel unfortunately developed focal epilepsy not long after his initial IS diagnosis.

He also has Sensory Processing Disorder, Speech and Language delay, and Global Development Delay. Despite all of this, he is amazing! He’s picking up more words each day and he is one funny determined little boy. He makes us belly laugh every day and we are all so proud of him. 

I always wonder if I’d got an earlier diagnosis would he have these other challenges, if I’d only knew about it and read about it in all the lovely glossy parent books you read during pregnancy, but I didn’t. I only came across it by chance on google because my son was already unbeknownst to myself in the grips of Infantile Spasms. 

I’d like to change that, and I’d love for it to be in parent classes and parent books and spoken about openly. Noel is one of the lucky ones - there are children affected much worse than he by this “rare condition. “ 

If you notice any movement your baby/toddler makes please have it checked out especially ones like an exaggerated startle reflex around sleep and wake times, try to get a recording on your phone to show doctors and time them but most of all don’t feel like your going crazy and listen to your mammy instincts. 

I’m delighted to have been asked to share Noel’s infantile spasms journey, it means so much to me and if I can help just even one person spot this rare form of epilepsy from sharing, I’ll be happy. 

Thank you, Tina, for sharing your and Noel’s story.Visit the 'Infantile Spasms' section of our website to learn more about Infantile Spasms. 

Tina and Noel
Tina and the superstar Noel!