Having a child with complex medical needs is scary and daunting. Parents can feel alone and poorly equipped as they quickly learn about their child’s medical condition. It can be isolating, as too often, friends and relatives don’t understand what they are going through.
Here, we speak with Claire Audibert, author of The Letter E, who shares her own experience, and what drove her to write about her family’s journey.
Not what they expected
When Claire and her husband Cedric got pregnant with their first child, everything was going well. On the day their son was born, everything was ready for his arrival.
I remember being stressed about “getting it right”: the sleep routine, changing nappies, feeding… But I couldn’t have foreseen just how much our lives were going to be turned upside down,” Elliot’s mum Claire tells Mum Central.
A few minutes after baby Eliott was born, he started having seizures in the delivery room.
However, the unusual movements weren’t recognised as seizures straight away. It was only the next morning, after he had a few others, that the midwives and the paediatrician on call decided to send him to the Neonatal Intensive Care Unit.
‘We were told it wasn’t anything serious’
Elliot needed to have tests done, and a feeding tube to get his milk. Nurses also put a monitor on his little toe to check the oxygen level and heart rate.
The baby was given anti-epileptic medication. However everyone was still reassuring. We were told it probably wasn’t anything serious, and they would be able to take our baby home soon.
Unfortunately, a few days later, as all the tests were coming back negative and the doctors tried to wean little Eliott off his anti-epileptic medication, the seizures came back. Except this time, they couldn’t be controlled.
No one knew what was happening
Eliott started having up to 15 seizures a day and his parents felt powerless and ever so lost.
It felt like one of those bad dreams, you know you’re going to wake up and it will all be fine. Except this time, the nightmare was becoming our reality, and we had no idea which way was up. No one knew what was happening,” Claire, recalls painfully.
At just over 2 weeks old, one of the neurologists on Eliott’s team suggested that he might be suffering from a rare form of genetic epilepsy called KCNQ2.
At 11 am he was given a loading dose of a new anti-epileptic drug that acts specifically on the Potassium channel, the channel that is impacted by KCNQ2.
At 5 pm, Eliott hadn’t had any further seizures. His parents finally got to bring him home a few days later, seizure-free.
During that time, Eliott didn’t have an official diagnosis but doctors were confident about it being KCNQ2. It was only when he was 14 months old that the family got the confirmation.
What is KCNQ2?
KCNQ2 is a rare and catastrophic form of genetic epilepsy that usually starts within the first few days of life. Children with KCNQ2 will often go on to have a wide range of mental and physical disabilities, and can also suffer from ADHD and ASD.
Most will have feeding and sleeping challenges.
We got a crash course on medical jargon and had to quickly learn how to manage a newborn with complex medical needs, but we also had to learn all about being a family, and had all the usual newborn stuff going on, getting sick from attending daycare, fevers, sleep regressions, etc,” Cedric, Eliott’s dad, says,
For some children, the seizures can stop after a few months to a few years.
After a few months without seizures, we hoped that Eliott might be lucky enough to have outgrown them.
However, one early morning around his 6-month mark, Eliott woke up screaming and had another seizure at home.”
30 seizures in 60 minutes
They called 000 and were taken to the nearest hospital. A few hours later, little Eliott had an episode of status epilepticus: a life-threatening medical emergency where the body is in a state of continuous seizures.
In the full sixty minutes that it took the doctors to get it under control, their little baby had over 30 seizures.
It was the most traumatising sight. Eliott was so small on the hospital bed, his tiny body stiffening every few minutes.
Doctors and nurses were everywhere. Someone was taking notes writing down the time and the number of seizures he was having, and they kept trying to put a cannula in his arm to give him a loading dose of his medicine. I was in the corner of the room, Ced’s arms around me, screaming that they were hurting my baby, and praying he would live”.
Eliott now has emergency medication that anyone looking after him is trained to administer. It’s the frontline emergency medication used to treat anyone having a prolonged seizure.
Not everyone with epilepsy will need to have this medication, but due to his history of status epilepticus, Eliott does. This is simply part of his life. As are the seizures.
Elliot, who is now 7, generally experiences severe seizures once or twice a year now. He is starting a new school soon, loves Sisu from Raya the Dragon, and is a doting big brother to Oscar, 5.
We have had a lot of ups and downs. The joys of seeing him meet milestones like walking, and the grief caused by realising that he may never get to learn how to read or write, for example.”
He and his family since have relocated to France where they were originally from at the beginning of the COVID-19 pandemic. Like many kids with KCNQ2, Eliott has ADHD, and he was recently diagnosed with ASD but that doesn’t stop him from taking on the world.
He loves cooking, and loves food! He also loves swimming, and jumping on the trampoline. He’s a pretty active little boy!”
Claire has now written a book, which recounts the first two and a half years of Eliott’s life. It is uniquely told through both her and Eliott’s voices and is the book she wishes she had when Eliott was younger.
If you have a child with complex medical needs, or know someone who does and would like to support them and understand more about what it might be like, get a copy of The Letter E by Claire Audibert, wherever you get your books. It is available through every online bookstore (Amazon, Booktopia, Book Depository).
You can also support your favourite bookstore by ordering locally.
Claire Audibert is a French-Australian author. Her first book, The Letter E, is a heart-wrenching story of Hope, Love, and Family Resilience. For more information, you can head to Claire’s website www.alltheletters.com, and get updates from Claire’s Instagram account @allthelettersofficial.
Share your own story
If you have your own story you’d like to share, we’d love to feature it. All stories and videos are welcome including pregnancy and birth stories, the highs and lows of motherhood, hacks and transformations, little heroes, real-life stories and more.