This post was first published on KCNQ2 Cure Alliance on 5 March 2022
When tragedy strikes and your world is turned upside down, how do you start to recover? Who do you turn to for advice, reassurance, support? Here, KCNQ2 mum Claire Audibert shares how she found support in KCNQ2 Cure Alliance, and a sense of belonging to a community.
A rare and catastrophic condition
9 June 2015: “Are newborns supposed to move like this?”
18 June 2015: “We think your son may have a mutation of his KCNQ2 gene”
When we heard “KCNQ2” for the first time, our son had been in NICU for over a week, and was having up to fifteen seizures a day. A day earlier, his doctors had sat us down in a small windowless room and shared that they couldn’t figure out what was wrong with him. Besides the devastating seizures that seemed to be drug resistant at that stage, it seemed he was acting and behaving like any other normal newborn. They were at a loss, and we were devastated. He was so small, so fragile, and because of all the wires, we hadn’t been able to hold him in days.
It took us a long time to get a diagnosis. His medical team suspected the condition long before we could get it confirmed. The neurology team had heard about KCNQ2 at a conference, demonstrating the importance of raising awareness. I profoundly dislike the expression, but “fortunately for us”, when they thought it could be KCNQ2, Eliott was immediately put on phenytoin, and his seizures got under control.
We wanted a proper diagnosis, we had to know what was happening, and were desperate to hear what the prognosis would be, but it took over a year to get confirmation that these four little letters and one number would form part of our lives together.
When the neurologists mentioned it the first time, we went online and started researching. I quickly found KCNQ2 Cure Alliance, and I vividly remember reading a quote from Scotty Sims, the founder of KCNQ2 Cure Alliance. She had gone “to the end of the internet” to find information and other families. The old me would probably not have understood the motivation to go to such lengths, but now I could. I read what KCNQ2 Cure Alliance was doing, found other charities and parent groups, and read their pages too, and started trying to make sense of some medical publications about KCNQ2.
I was starting to understand that our life would be very different from the one we had dreamt about.
My first born, only 10 days old, was in NICU and instead of reading about sleeping and feeding patterns like I imagined myself doing, I was reading about this rare, catastrophic, incurable disease. Every cell in my body wanted to scream.
A life no one else could understand
The first few months of his life, Eliott had a few seizures but if you did not witness them, he pretty much looked like the other newborns in my mums group. He smiled early, was babbling a lot, and was a happy baby. For us parents, life was hard, we had a lot on with doctors appointments, and worried non-stop about what the future would look like. We were expecting results from a panel run by the genetics team to confirm whether Eliott had a mutation of his KCNQ2 gene, but we weren’t officially part of the club yet.
And at the time, I prayed so much never to be. With every cell of my being, I prayed. Back in 2015, there weren’t many cases in the world, it was a very select club I never ever wanted to be admitted into. The price to get in was way too high for me.
Our neurologist explained how KCNQ2 is on a spectrum, from benign for those with the benign familial ‘version’ of the condition, to severe KCNQ2 Epileptic Encephalopathy, or EE. I didn’t understand it all, but what it meant to me was that Eliott needed to be in the first bucket, because that was our only ticket to a normal life.
I prayed, and I buried my head in the sand. I told myself that we would support him, help him, work hard, and we would fight our way out of this. Somehow, reaching out to a group, a charity, a community, meant accepting. Not only was I not ready to accept anything, I was actively fighting it.
When Eliott was 6-month old, he almost died while having a seizure.
When it happened, we had our family and friends support, the medical team was empathetic and provided excellent care to us all, but we didn’t know anyone who had lived through a similar experience, and we felt really isolated.
We finally got a diagnosis when Eliott was 15 months old.
It took another 6 months to muster the courage to reach out. I emailed email@example.com and after a quick introduction wrote “no one can help us understand what the future might hold for us”. That was my cry for help, I had tried to fight on my own, and couldn’t anymore.
Soon after, I spoke to Sara from the KCNQ2 Cure Australian branch. We spent well over an hour on the phone, going through our respective journeys, where the research was at, what worked for ‘our’ kids, an upcoming conference in Australia, and everything in between.
To this day, I still remember everything about this talk. I remember the sound of Sara’s voice, I remember the sun in the sky, and I remember pushing Eliott on a baby swing at our local playground. I remember him giggling and being cheeky, and I remember that warm feeling that I wasn’t alone anymore.
Finding your tribe
Finding my tribe has been life saving for me. Not just that day, but in the years since. Not just for KCNQ2, but for every aspect of our life. Because KCNQ2 doesn’t just affect our kids. It’s not just about doctors’ appointments, therapies, seizures, global developmental delays, mobility, behaviour, and sensory issues. No.
It affects everything and everyone in the family, every little aspect of life. It affects work, it affects where we might choose to live, what we do on weekends, what we eat, how much sleep we get, where and when we might go on holidays, how and what we share with our friends and families, our finances, our own health.
Finding my tribe has meant I don’t feel isolated and alone anymore. I know there are a lot of us working on finding a cure for our kids. Everyone has something to contribute at some point, everyone needs help at some point, and everyone loves someone with KCNQ2. There is no judgement, only empathy.
It gives me energy and strength on the bad days, and a sense of hope knowing that we are stronger together. That scientists, doctors, therapists, pharmaceutical companies, governments, families, carers, and patients can go further and can deliver far greater outcomes than if we were trying to tackle it alone. Together we will find a cure.
Claire’s first book, The Letter E, chronicles her family’s journey after their eldest son Eliott, who is a KCNQ2 warrior, was born. The Letter E will be published in June 2022. You can get updates from Claire’s instagram account @allthelettersofficial