How I found strength as a mother of a child with genetic epilepsy – Love What Matters

Genetic diagnosis of epilepsy

“Our son has a mutation in his KCNQ2 gene, a rare and catastrophic form of genetic epilepsy that has no cure. When he was born in June 2015, our whole world was turned upside down.

He started having seizures in the delivery room and was sent to the neonatal intensive care unit where he stayed for more than 2 weeks. He is now 7 years old and since then he has also been diagnosed with Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD).

Having a child with complex medical needs is scary and daunting. Most of the time, we don’t know which way is up. I wrote about our journey in The Letter E, a story of hope, love, and family resilience, to help other families feel less alone and those around them understand what it’s like to walk in our shoes.

starting our family

I always dreamed of having a big family. When we first met, I told my husband that he wanted to have three children. He had this mental image of my little tribe all playing together, laughing and running after each other in the backyard.

Shortly after meeting in Paris, we moved to Sydney. We loved it there so much, that when my husband’s 2-year contract was extended, we were over the moon. In fact, we ended up staying for over a decade, becoming citizens and having two children there.

When we got pregnant with our first, everything was going well. It was a healthy pregnancy without any complications. I kept running for a while, we traveled a bit and everything was ready for his arrival the day he was born.

It was a long labor, so I was exhausted when the midwife finally said, ‘Say hello to your little boy.’ She was still losing a lot of blood, so when the doctors ran into the room, the baby was passed to my husband.

She looked at me, newborn in her arms, wondering if I was okay. When you don’t have a medical history, it’s very impressive to see doctors rush into a room to take care of your wife.

After it was confirmed that I was going to be okay, and they were doing the paperwork to transfer me to the ICU for overnight observation, he handed the baby over to me. eliott. We had chosen the name from the beginning and we loved it.

He was beautiful. But he quickly he began to move in a strange way. He suddenly went very stiff, one of his arms stretched out in the air, his tiny face all red.

NICU visit

The next morning he was sent to the Neonatal Intensive Care Unit, or NICU, where he stayed for more than 2 weeks with a seizure disorder. During those weeks we hardly left his side, he was covered in wires and he had multiple EEGs, lumbar punctures, blood and urine tests.

We tried so many anti-epileptic drugs that just didn’t work. Nothing seemed to stop the seizures.

Hearing the words ‘seizures’ and ‘epilepsy’ when you know nothing about the condition is terrifying. Although, to be honest, you still don’t know what to be afraid of.

We began to fear what the future would hold when the doctors told us they didn’t know what was causing the seizures, they couldn’t control them, and we could go home with a newborn who was having 10-15 seizures a day. A

After 2 weeks, they suspected a very rare genetic form of epilepsy and gave him a loading dose of a drug they hadn’t tried yet. It worked. Eliott was seizure free in a matter of hours.

The genetic mutation they suspected is so rare that it doesn’t have a proper name, just the name of the gene: KCNQ2.

mother holds her son with a rare form of genetic epilepsy
Courtesy of Claire Audibert

Adjusting to our new reality

Eliott spent the first year of his life between doctor appointments and hospital visits. He had had a few seizures that appeared to be triggered by a fever, including a traumatic episode of status epilepticus, a life-threatening condition in which the body cannot recover from seizures, it is in a state of “continuous seizures.”

At that time, he had about 30 seizures over the course of an hour. This was the scariest hour of my life.

Fortunately, we were at the hospital when it happened, or we probably would have missed it. She was 6 months old at the time.

It took us 15 months to get a proper diagnosis. When we got confirmation that it was a mutation of one of his KCNQ2 genes, we were also told that it was a de novo mutation, meaning that his father and I were not carriers.

They told us it was just “bad luck”. To this day, this is the least constructive thing I’ve ever heard.

When we got the official diagnosis, I was pregnant with our second child. We made the decision to test the fetus in utero and perform genetic testing to confirm if it had the same mutation.

We were told that since we were not carriers, our risk of having another child with the same condition was low. The fetus was tested through an invasive procedure, so there was a risk of miscarriage.

According to doctors, the biggest risk we faced was testing a perfectly healthy fetus, only to lose it in a miscarriage. It was heartbreaking, and not a choice anyone should have to make, but we knew we couldn’t risk having two children with the same condition.

The test went well and in April 2017 Oscar was born, a healthy baby.

Life with an epileptic child

Our children have a very special bond, although it is far from the dream I had as a child, the vision I shared with my husband when we first met. Cognitively, Eliott is severely impaired.

His gross motor skills are fine, but his fine motor skills, communication, and general understanding of the world around him are not. He still wears diapers at night and needs help getting dressed and undressed. He is not close to having independence or autonomy and requires constant attention.

One thing I am thankful for is that he is a fun and loving boy. He is affectionate, loves to cuddle and tells us that he loves us. Despite all the challenges and in the face of all the struggles, there is much love in our house.

mother and son with a rare form of genetic epilepsy in the swimming pool
Courtesy of Claire Audibert

When Eliott was just over a year old, I began to seek support and turned to books for solace. I was hoping that someone else had been through a similar journey and that reading his story might help me understand more about what lay ahead, might make me feel less alone, and ease my pain a bit.

I can not find anything. There were many professional books, but the clinical terms were not what he was looking for.

Publication of a book for parents on epilepsy

I started writing the book I wanted to read. I shared the ups and downs as we learned to cope with an incurable disease, how it affected our daily lives, and how we learned to redefine our vision of being a family.

I decided to tell our journey through my voice and that of my son. It makes the storytelling as raw as I thought it should be, as honest as I needed it to be, and as light as I think my son would want it to be.

It’s full of hope, love and laughter, but it’s also full of hard truths and paints a very different and pure picture of what it’s like to be a new mother to a child with complex needs in today’s world.

wish The Letter E, a powerful story of hope, love and family resiliencebeing a support for families like ours, knowing that they are not alone whatever their circumstances.

And I also want you to help your own families, friends, co-workers, managers, support networks, specialists, doctors, therapists, educators, teachers, etc. to understand what it can be like to have a child with complex medical needs.

book cover written by the mother of a child with a rare form of genetic epilepsy
Courtesy of Claire Audibert

More generally, it is becoming a must-read for anyone who wants to understand more about living with a child with a serious medical condition or supporting someone with one.

I am also incredibly proud to share that a percentage of the profits derived from the sale of the letter E will be donated to the KCNQ2 Cure Alliance to support research. This is very important to me because together we are much stronger and we will find a cure.

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 look like, get a copy of the letter E wherever you get your books.

It is available at all online bookstores.. You can also support your favorite bookstore by ordering locally.”

mom hugs her son with epilepsy while taking a selfie
Courtesy of Claire Audibert

This article was submitted to Love What Matters by Claire Audibert from Normandy, France. You can follow her on instagram and her website. You can buy a copy of his book, the letter E, on Amazon. Join the Love What Matters family and subscribe to our Newsletter.

Read more stories like this:

Your son has the worst epilepsy I’ve ever seen. It’s Crazy Doctors Ask How To Treat Her’ Son: Mom Shares Son’s Journey With Epilepsy Through Misdiagnosis, Mistreatment Up To 3 Seizure-Free Years

“My husband texted our family, ‘She’s out and healthy.’ It was before we knew otherwise’: Adoptee goes through first-time motherhood with medically complex child, KCNQ2 gene mutation

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