Ethan was born on June 4th 2023. The first month was pure bliss, we felt complete with our two kids and were so excited for our future as a family of 4. That dream was crushed just a month after Ethan was born
When he was a month old, I noticed some rhythmic leg twitching that lasted just a few seconds. By the third time of seeing this, I rushed to the pediatrician on a Friday afternoon with a video of the events. She found them a bit concerning and referred us to a neurologist. I quickly made an appointment for the following Monday. Over the weekend, I saw one more event, where this time he was awakened with his eyes wide open and staring blankly. I knew immediately that this is not normal and my gut told me to rush to the hospital for an EEG. At 10PM, we arrived to the ER, where they admitted us and began a 24 hour EEG the next day.
At this point, we’d only seen about one event a day, so I watched Ethan closely, without taking my eyes off him for a second until I saw one. Finally, at around 8PM, he had an event, and I clicked the button for the neurologist to review. Later that night, we found out it was a confirmed clinical seizure. Just this alone had us crying for the next few hours. Knowing our son has some form of epilepsy and will be needing medication for at least a year broke our hearts. They did an MRI, a spinal tap and blood tests and found nothing that could cause these seizures. They took a swab for genetic testing that would take a few weeks for the results to come back.
Ethan continued to have seizures daily, even after a couple of hospital visits, different opinions and the most commonly perscribed anti seizure med, with no answers as to why.
I’ll never forget the day we found out.
July 24th was my husband’s 30th birthday. With everything going on, and while waiting for answers that weren’t ready yet, I figured we should at least celebrate him and lift his spirits. I surprised him with his closest friends and family.
The next day, on July 25th, the results came in. We had to drive to Miami to see the doctor in person. It was the most dreadful drive.
Finally, the doctor said “KCNT1”.
Everything after that becomes a blur. Come to find out, the epilepsy is only a symptom caused by a vicious gene mutation.
You google and see the words “catastrophic”, “untreatable”, “incurable”, “never walk or talk”, “severe developmental delay”, “feeding tube”, “don’t live past toddlerhood”.
You see all the tons of health issues associated with this disease.
Ethan is 5 months old now.
His seizures began from as frequent as once a day, then 8 a day, then 20 and recently, during a 24 hour EEG, about 10 every hour.
At home, I see about 30-50 visible seizures, but I know there are more that are unseen, even while taking several anti seizure medications. They changed from leg twitching, to arm twitching, to stiffening of the body, eyes rolling and moving back and forth, and most recently holding his breath and turning blue. Everyday, several times a day. Developmentally, he’s regressed in that he doesn’t hold his head up very well, stopped smiling entirely, and has worsened eye contact. Each seizure stalls the opportunity for him to learn and grow.
There are really no words to describe what this does to you as a parent. Between watching your baby seize all day and night, deeply grieving the life you thought you’d have, becoming a caretaker, and daily life involving every specialist and therapy available. And the worst part - not knowing what your child’s future looks like, but assuming the worst and trying to have hope for the best. Thoughts I wouldn’t wish on any parent who’d just welcomed a new soul into the world. It’s the kind of life you see a story about online and quickly click away because you just can’t imagine even for a second. It’s a 24/7 of heaviness, moments of happiness that are burst by the reminder of the overall grief, glimmers of hope from the extremely rare positive stories in this already extremely rare diagnosis and hope that maybe a treatment or cure will be discovered in time for our child to have a better quality of life.
There are two reasons we’re sharing Ethan’s story - one is that we need to raise awareness because this is an ultra rare disease with only about 3000 cases identified worldwide. The gene was only discovered in 2012, though, and more cases are being identified every year.
The second reason is that we need your help.
Whether you’d like to help by spreading awareness on this disease or would like to donate to the KCNT1 foundation at KCNT1Epilepsy.org and visit the website to learn more.
Time is not on our side, but we are close to finding treatments for our children to at least have some relief on a day to day basis. Every dollar and share counts and is deeply appreciated!
