Luke was diagnosed with IS at 6.5mo and out of the blue the life ahead of him we thought he’d
have became so uncertain. We had so many questions that can only be answered by time passing,
making it all so much harder to process and move forward.
Luke was diagnosed quickly thanks to video footage I managed to capture in that frantic moment
between the horror of watching your child having spasms for the first time, knowing its not normal,
my daughter (nearly three at the time) asking me what was wrong and my phone blinking at 3%
battery. It was awful being in hospital not knowing what was wrong with him, seeing him have
series after series of spasms and hooked up to all the machines.
He was started on prednisolone and referred to Great Ormond Street Hospital where vigabatrin
was added too. The spasms stopped but Luke was a zombie who just slept so much, even when
awake he did not seem present and he hardly smiled. He ate for Britain and I couldn’t keep up with
breast feeding. I have photos of him at his largest and I can’t help looking at them with such mixed
feelings: sadness of what he must be going through and the effect of the drugs on such a small
baby but laughter and disbelief at just how large he got, he looked like a sumo wrestler, I’m not
exaggerating.
This time was a bit of a blur, most days filled with worry and fear for the future and if Luke was OK.
He was spasm free for a while but three months after diagnosis the spasms returned as head
drops, it was heart breaking and a major readjustment, our hearts sank as we returned for the EEG
and it was confirmed. We realised this meant Luke may not be in the percentage of cases that
would recover relatively unscathed. He was started on Topiramate and referred for the KIWE study.
This whole time life was so far from normal, even on Topiramate the head drops didn’t stop, but we
tried to make it normal. I’d take Luke to baby groups and almost come out in tears. I couldn’t stay
and chat to the other parents as I felt so jealous. Luke couldn’t join in with things other babies his
age were doing and didn’t even seem aware either. He wasn’t sitting up let alone crawling. I am
thankful for the home visitor service and the local health centre for the groups that they ran for
children with developmental delays. They were both a sanctuary and a huge support when things
seemed very bleak. At least these were places I could take Luke and if he cried the whole session
and didn’t join in I didn’t feel judged.
We started the KIWE trial in October 2017 but faced a frustrating delay as Luke was randomised
for another AED and Keppra was added to the long list of medications he was taking. About 10
weeks later we eventually started the Ketogenic diet. Luke was just over 1 year old. I found the
Ketogenic diet intense and difficult to adjust to. It forced me to be very organised and plan ahead
(both things I am not very good at). I am not naturally good at maths either and I suddenly found
myself having to work out every little gram my son was eating. I found it really restrictive and it was
hard to organise family meals when my 3 year old just wanted carbs and my son was only allowed
fat!
The dieticians at GOSH were a huge support, I called them at least once a day in those early
days/weeks/months and what I truly appreciated was they always picked up the phone, took
onboard what I was telling them calmly, adjusted things for Luke, suggested I try other things and
gave me recipes based on what he was eating prior to the diet.
As is quite common Luke got Keto flu, constipation and reflux from the diet. He was miserable for
months, irritable, no motivation, constantly having to be carried. I even resorted to carrying him in a
sling around the house. The nights were bad too. But we stuck with it, motivated by the fact that
incredibly it seemed to be working.
Luke had been SF since the first full day on the diet, it was very empowering to feel that by cooking
for Luke I was helping him get better, to this day I find it hard to fully understand the power of what
food can do to help the body repair itself.
Slowly and cautiously Luke was weaned off Vigabatrin, then Topiramate and finally Keppra.
Amazingly he remained SF. We didn’t dare believe it and could hardly tell people for fear we would
jinx it! After about 4 months his diet was adjusted to the Modified Ketogenic diet and Luke seemed
happier. I was too. It was a much more relaxed and manageable form of the diet and meant we
could go out and be flexible with meals and Luke was able to eat more variety of foods.
Luke was weaned off the diet in February this year and remains SF, an incredible 2.5 years now.
He has been diagnosed with GDD and autism and has reached all his milestones much later than
his peers but he is getting there in his own time. I remember when Luke was first diagnosed and it
became apparent he was behind developmentally people saying that he would get there in his own
time and all I had to do was take each day as it came and support him. I found this frustrating
advice and hard to take, I was impatient and fearful for the future, wanting to make sure I was
doing everything in my power to help Luke develop, but it is good advice and in retrospect I think
the only thing you can do.
Luke started walking independently in January this year aged 3 years and 2 months and that has
been a huge milestone and one we have not taken for granted as he gained his independence. He
is still very unsteady and falls over regularly but at least he is up on his feet like others his age. His
speech is coming along too now slowly and he can join 2-3 words together and copy sentences or
his favourite bits from a book.
He’s generally such a happy boy, he lights up my heart and makes me smile. He gives fantastic
hugs and has a wicked giggle that is so infectious. He loves singing nursery rhymes and books,
especially any of the Julia Donaldson ones. There have been so many times I really could not
imagine that things would feel so good and that he would have come so far, there were so many
times when I just couldn’t picture Luke sitting up, moving or walking and I am amazed every day by
Luke’s determination and resilience.
This has had a big impact on our family, my daughter has been incredible through all this too, she
was only 2 when Luke was diagnosed and so I suppose has not really known any different but she
is so kind, helpful and patient with him and rarely complains when it must seem like to her all we
talk about is Luke.
I don’t know what the future holds, how Luke will develop or if he will be able to attend mainstream
school in September next year but we are learning to try to take each day as it comes. And when
you have breakthroughs like our recent camping trip – when Luke was so happy – we appreciate it
all the more because of everything he’s been through.
