On December 19th, 2023, our beautiful baby boy Hugo, was born. His arrival wasn’t without
complications, after a delayed pre-eclampsia diagnosis, I was induced a week later. I spent
four days on the induction ward followed by 22 hours of labour before Hugo entered the
world. Our beautiful little boy immediately endured 30 minutes of resuscitation. To this day,
we have no cause for his Infantile Spasms, but I often wonder if those first 30 minutes were
a significant factor.
For the first six months, Hugo was a dream baby. Smiley, happy, hitting all his milestones.
But in early June, everything changed. The smiles stopped. The eye contact disappeared.
He no longer tracking objects and stopped responding to any sort of noise or his name. It
was like the bright, bubbly boy we knew had vanished overnight.
I called the health visiting team, desperate for answers. I was told it was “normal” and could
be due to teething, eyesight changes, or a new skill developing. I hung up feeling brushed
aside, like an over-anxious first-time mum. But my mother’s instinct told me otherwise. We
were invited into the health visiting clinic the following week and the health visitor shared my
concerns. Hugo was increasingly sleepy, at times it would be a struggle to get any response
from him but he was still managing to eat and support himself well. We were told they would
do a follow up visit within 2 weeks but the wait to see a paediatrician was currently 4 to 6
months.
The days that followed were unbearable. Hugo grew sleepier and unsettled, crying in ways I
couldn’t soothe. Then came June 26th 2024. On a family day out in Chester, we observed
Hugo displaying some strange movements. His arms flying above his head, body crunching
and his eyes rolling. It lasted about a minute. As it was a hot summers day, we thought it
might be a reaction to the heat, but the next day it happened again, and this time my
husband caught it on video. When I saw it, my heart sank. I just knew there was something
seriously wrong and called 111, who told us to head straight to A&E.
At New Cross Hospital, the nurse we saw initially wasn’t overly concerned after watching the
video. But when a doctor reviewed it, everything changed. We were sent to paediatrics
immediately. That night, was the first time we heard the condition “Infantile Spasms.” Neither
of us had never heard of it but was relieved to be finally getting closer to some answers and
for our concerns to be taken seriously.
The following morning, we were visited by Hugo’s neurologist, a man we will forever be
grateful for. He was instantly referred for an EEG, MRI, and blood tests along with hearing
and eyesight function tests externally. By the end of the day, we had the diagnosis: Infantile
Spasms. I can’t describe the shock. We had never even heard of it, yet suddenly it was our
reality. Hugo was prescribed steroids and vigabatrin that same day along with omeprazole.
Following hospital discharge on Friday 28th June 2024, he suffered 2 more seizures. The
reality of what was happening to our beautiful little boy didn’t hit us for the first couple of
days and then myself and my husband just crashed with the weight of it all. We questioned
what would the future hold? Then, just days later, a glimmer of hope emerged and his smiles
returned. The first smile after weeks of blankness. I cried with relief, because in that moment
of endless tests and medical professionals, I truly thought I might never see it again.
By January 2025, Hugo had been seizure-free for six months. His MRI, genetic testing, and
bloods all came back clear. We were given the green light to begin slowly weaning him off
vigabatrin. The process would take 15 weeks and as the weeks passed, we saw milestones I
once thought impossible. Hugo started crawling, pulling himself up, babbling, copying
“Mama” and “Dada,” even mimicking our coughs. He is 20 months old now and has been
discharged from physiotherapy as he has made such good progress. He is so close to walking but
just needs that last bit of confidence to make those first few steps. Overall, he is
around 6-8 months delayed developmentally but we are working with him all the time to
catch up and we are seeing him learn new skills all the time.
We aren’t completely out of the woods yet, we still second guess every little strange
movement and I am so grateful to the epilepsy team at New Cross hosital and their quick
responses to our footage. There was an instance back in October 2024 we thought Hugo
may have relapsed but luckily, his EEG showed no hypsarrhythmia and was given the all
clear. He is also still waiting for a hearing test under sedation as he has failed his hearing
test a total of 4 times now. Despite responding to sounds during the tests, he is not meeting
medical requirements which means he is undergoing additional investigation to identify any
potential temporary or permanent hearing loss.
What has shocked me most through this journey is how little awareness there is about
Infantile Spasms. We’d never heard of it until Hugo’s diagnosis, yet early recognition and
treatment are critical. That’s why we’ve tried to do our part. With the support of friends and
family, we’ve raised funds for UKIST to help other families just like ours. Firstly over £800
through a Facebook fundraiser, and another £1,200 from the Birmingham Half Marathon
thanks to my amazing husband Curtis and brother-in-law Bradley. We can’t thank UKIST
enough for their endless support. From loan of equipment to help Hugo sit unassisted to the
family days planned which has enabled us to network with other families going through the
same journey.
Hugo’s story is one of resilience. From the terrifying days when I thought I’d lost the light in
him, to now, watching him smile, play, and grow. He is proof of why awareness matters.
Infantile Spasms is rare, but not rare enough to ignore. The earlier it’s recognised, the better
the chances for children like Hugo.
If there’s one message I want to share, it’s this – Trust your instincts. Push for answers. And
never underestimate the power of awareness, because it can change lives.
