This National Epilepsy Week, Elaine has shared the story of her son Cole’s diagnosis of a rare type of epilepsy called PCDH19 – and how he has inspired her to take on the ultimate challenge in October…
Cole was born on 24th April 2019 - a healthy 8lbs. He was our first baby, and we were absolutely besotted with him and his little white, blond head.
We loved travelling and were adamant we were going to see the world together - the three of us – and by the time that Cole was just 5 months old, we had already been on a few holidays.
We were just back from Portugal when Cole awoke on the morning of the 8th October 2019 – with what we now know was a seizure. He was convulsing, frothing at the mouth and rigid. We rushed to our local hospital in Castlebar by car – luckily, we only lived 10 minutes away.
There, the seizure was stopped by emergency medication – and he recovered quite quickly and was back to himself over the next few days. However, I was very mindful that his consultant had concerns.
Later, he had a clear MRI – which was a relief - but an EEG in Temple Street was also ordered and we were to be transferred by ambulance for the test. 40 minutes into the journey, Cole started seizing again.
We couldn’t turn back and were advised to keep going to Temple Street – and that we urgently needed to get there for specialist care. Several hospitals along the route were on standby, and there were multiple stops alongside the road to work on Cole and administer emergency medication.
The journey took just 2 hours in total – the longest two hours of my life, and one which will haunt me and my husband; who was travelling behind by car, wondering if he’d see Cole alive again; for the rest of our lives.
Cole was rushed to the neurology department and had his EEG while still seizing. Within an hour, his consultant had told us that he had epilepsy. Strangely, despite all that had become beforehand, there was a sense of relief. We thought it would be a matter of getting medication for him and we’d be on our way. How naïve we were.
We spent six nights in Temple Street attempting to get his seizures under control. Many medications were trialled, which he didn’t respond to. We left with a combination of three daily medications – and the hope that we’d never have to go through this again.
It felt daunting coming back to Mayo with this new part of all our lives, which had just appeared without warning. Sleep was a struggle for us as we always felt a need to watch him. We were nervous leaving the house or leaving him with anyone. We had to get used to giving our baby daily medications. On reflection, we were still in shock about what had happened.
Despite all he’d been through and this new part of his life, Cole continued to meet all his milestones and for the most part, was a happy little baby. Fast forward to January 2020, and we got up one morning and it all happened again, and we found ourselves rushing from Castlebar to Temple Street – realising that our experience from October was not a once-off.
In February 2020, following genetic testing, Cole received a diagnosis of a rare epilepsy called PCDH19 epilepsy. It was found that my husband and I were not carriers of the gene that causes this type of epilepsy, so it meant Cole was ‘de novo’ – meaning it starts with him.
Cole is now six years old. Over his five years, he has continued to have cluster seizures, medication changes, blood tests, injuries from seizures and has had over 60 hospital admissions. 
Despite everything epilepsy has thrown at him, he is doing really well. He is in junior infants – and loves riding his bike, going to the beach, playing basketball, playing with his cousins and going out as a family of a Sunday evening. He also now has a partner in crime with his little brother Cooper – who is his big brother’s biggest fan and so understanding of this difficult to understand part of all our lives.
Cole is a child who lights up the room, has a glint in his eye and boundless levels of devilment! He has an infectious belly laugh and his resilience is an inspiration to us all.
His approach to life with epilepsy and the challenges it can bring has actually inspired me to take on a challenge of my own! Later this year, I will be taking on the Dublin City Marathon in Cole’s name – to help raise awareness of epilepsy, Cole’s story and raise vital funds for Epilepsy Ireland. On International Epilepsy Day earlier this year, I shared a short video on my Instagram about our family’s journey with epilepsy and how Cole is an inspiration to us all – and saying how I will be taking on the marathon and if people could donate, it would be much appreciated. We have been blown away by the response and the generosity people have shown.
As I write this, over €9,000 (so far!) has been donated to my Epilepsy Ireland fundraiser for Cole and is one of the top Dublin City Marathon fundraisers in the country. In sharing our story, I just wanted to take the opportunity to thank everyone who has donated – we are beyond grateful to see this amount being raised in Cole’s name; and hopefully it will be even more by the time October rolls round and I am left with the not-so-small task of actually completing the marathon! All good luck messages will be gratefully accepted and appreciated!
Our goal as parents is to give Cole as normal a childhood as possible despite the challenges his condition can bring. We still go travelling as we always originally planned with the two boys in tow – albeit there’s an extra level of stress that can be involved – but through our journey so far, we know to make the most of every good day, as we have learned that bad days could come back.
Thank you for reading about Cole and our family’s journey with epilepsy and I hope it helps other families recognise that you are not alone in this journey.
Thank you, Elaine, for sharing your family’s story and for your incredible support for Epilepsy Ireland in Cole’s name. If you would like to add to the fantastic amount that Elaine and Cole have already raised for Epilepsy Ireland, click the button below to make a donation.
If you or your loved one need any information or support about epilepsy, please do not hesitate to get in touch with your local Community Resource Officer. Visit the ‘Our Local Service’ page on our website to find details of your local Community Resource Officer.