June 2023 is upon us… Otis is turning 2, and reflecting on his life so far I can say that the
pathway his life has taken was a million miles from what we thought would happen. As parents to
two older adopted children who both have special needs, and some physical disabilities, we really
don’t “plan”, or even expect life to happen in a certain way. So when we found out that we were
expecting a baby we didn’t make huge plans, obviously we wanted our baby to be healthy and when
he was born and declared healthy we had just taken that for granted.
For the first 5 months it was amazing (despite a difficult birth and both of us needing that extra
bit of time to recover) breastfeeding was going great; his developmental milestones were being
smashed ahead of time; he was gaining the pounds and growing in length so fast. He was such a
happy baby, and it was bliss. And then at around 5 months we started having this miserable baby
we’d not seen, there was no pacifying him. Between a cold, his 20 week jabs and the onset of
Infantile Spasms it was a stressful blur of tears, sleeplessness and feeling helpless.
On Saturday November 20th 2021 I saw it for the first time – a spasm cluster. I got my phone out and
recorded – I knew what it was straight away, there was absolutely no doubt at all in my
mind. You see, 2 months earlier a friend’s baby had really bad issues with reflux and ended up at A&E
to be assessed for Infantile Spasms. That friend shared an awareness video to raise awareness, I
watched it and for some reason it stuck with me. So I knew, I felt the truth of what I was seeing in
front of me down to my bones. And I knew I needed to take a video and get to A&E and get him
assessed without delay. The husband was harder to convince but there was no way I wasn’t going.
Within an hour the A&E doctor said “we agree, we believe it is Infantile Spasms and will be admitting
you to the ward for paediatric investigations. We won’t be able to confirm anything until Monday but
we want to monitor him”. Monday came, the EEG was conclusive. He was started on treatment of
standard doses of prednisolone and vigabatrin that afternoon and kept in, in order for causation
investigations of MRI, lumbar puncture, basic genetics and metabolic bloods. We were discharged
home to the care of community nursing team (as prednisolone can affect blood sugar and blood
pressure).
Two weeks later and we came back to the hospital (outpatients this time) for neurophysiology, a repeat
EEG was carried out to check if the medications had worked. They hadn’t. We had to increase his
medications to maximum doses, whilst in the background plans were being made to start the
ketogenic diet as a back up plan. Thankfully though, that wasn’t necessary, his spasms began to
setlle. I began to breathe again (I felt like I had been holding my breath until then). Watching and
recording and jumping to action to reassure him. I wasn’t sleeping, I was still exclusively
breastfeeding but steroid hunger is massive – it was exhausting. I hadn’t seen him smile in over a
month, he’d been like a newborn again since the hospital. I couldn’t remember the last time I had
seen him smile. I was devastated. Thankfully the UKIST support group reassured me it was all natural
to be feeling like this, and that the smile and the interaction will be back.
The next EEG revealed the medications were helping, we could begin weaning off of the
prednisolone slowly. And despite a few random suspicious movement episodes (that had us back in
for short notice EEGs – all slightly better than the ones before) he continued to improve. By January,
it was revealed that all the causation tests had come back clear and as such his consultant was
ordering Whole Genome Sequencing (his, and our, genetics were to be mapped and the known
epilepsy genes compared against one another). By April, we were able to start the wean off of
Vigabatrin slowly and by June, his first birthday we would be off the medication entirely.
We were able to focus on his development – he had lost the ability to sit, lost all visual reach, was
refusing to eat solids, had so little core stability he couldn’t even push himself up when he was on his
tummy. UKIST funded a Firefly GoTo seat so that he could eat safely out and
about, and socialise more. Whilst still waiting for NHS equipment I also used the seat for sensory play
and supported seating whilst I tried to do as much visual interaction as possible. Slowly but surely
things have started slotting into place.
By the end of Summer he was beginning to crawl, and was eating more than just the ice cold jelly he
had lived on, and reaching for things. His babbling and his interest in the world around returned. But
I was a bag of nerves in November – the anxiety around the year anniversary of his diagnosis was
huge. I decided to not be overcome by it, but to instead arrange the cake smash we had stolen from
us for his first birthday to celebrate how much he’d overcome in the year.
Fast forward to Christmas 2022 and we got a phone call from his consultant – they found a cause for
his epilepsy. He has a partial deletion to DEPDC5, which is associated with Focal Epilepsy (in rare
cases initial presentation is Infantile Spasms) and it can also associated with neurodevelopmental
and intellectual disabilities. And I have it too.
Otis is still non-verbal/pre-verbal, but does communicate to a degree in some other ways and can
have huge intense meltdowns. He has such a cheeky personality, it’s so easy to love being around
him. And though we know a diagnosis of ASD and/or ADHD is on the cards with a likely onset of
some form of focal epilepsy later, we are living in the now, and celebrating the amazing child who has
overcome so much adversity already. He has not long learned to walk, has no fear and will climb up
anything he has the opportunity to. He loves watching Encanto, Hey Bear and Signalong Nursery
Rhymes. He really enjoys story time, loves the trampoline and bops away to music. His absolute
favourite activity in the week is Messy Play – where he sits in each tray and eats the contents and
generally makes a mess. I watch in awe at the child I see developing in front of me, I don’t know
what the future holds for him but every little inch-stone he achieves brings me more and more
optimism.
