Coming to Terms with a KCNA2 Diagnosis
From a KCNA2 Mom
By Alysha Applebaum
Being a parent is challenging, no matter what. When your child is a newborn, you are constantly checking to see if they are accomplishing milestones on time and comparing your baby with other babies to make sure that yours is developing properly.
When my daughter, Ilana was born, I instantly fell in love. She was a perfect baby. She was able to gain head control at only a few days old. She was turning over at two months, sitting up by five months, crawling at about eight months, everything seemed to be normal. It was when she turned 18 months and was still not walking that we got our first little hint that something might be wrong, but then she started walking later that month!
She turned two years old and was not talking yet. We were concerned, but were constantly reassured that everything was fine because some kids take longer to start talking. By two and half, we were growing much more concerned. We had her evaluated by Regional Center, and they identified her ataxia right away. They noticed her excessive drool, which we had chalked up to teething. They thought she may possibly be having seizures, although that would need to be determined by a neurologist.
We took her to a neurologist, and we had her first EEG. During that one-hour EEG, she had a two-minute atypical absence seizure that we did not even notice. Her neurologist diagnosed her with epilepsy right away. I remember feeling relief. Okay, now we have a diagnosis, we know what is causing her delays, and we can give her medicine and all of our problems will go away.
Her neurologist was not as satisfied with that answer as we were. She wanted to know what was causing her epilepsy and immediately ordered genetic testing. When her results came back with gain of function KCNA2, we were a little shocked, but ultimately relieved. Okay, now we have even more answers and there’s a whole community out there of other people with the same diagnosis. Oh, how naïve we were! I joined the KCNA2 Epilepsy Facebook group and I was thrilled to find a whole group of people with the same rare diagnosis as my child. I understood that KCNA2 came with a big spectrum of symptoms and severities, but I still thought that someone in the group might be able to help me understand what I could expect for Ilana’s development. You see, my child was only two and a half years old and at that young age, I had no idea what I could expect for her future.
I wanted to know if she would one day be able to hold a conversation? Would she be able to ride a bicycle? Read a book? Drive a car? Graduate from high school? Achieve seizure freedom? I desperately wanted a picture of what my daughter’s future was going to look like, and I asked questions hoping that someone would be able to help me understand Ilana’s prognosis.
Almost two years later, I finally understand, that there are no answers. Understanding Ilana’s diagnosis is important. Connecting with the KCNA2 community is important. As we work with our scientific board to gain knowledge about this disorder, we may one day hope for precision medicine or something tailored specifically to help our children, but ultimately, we must live with the child that is in front of us now. We will never know what their future looks like from any age. And we need to learn to be okay with that. No two people with KCNA2 are identical and none of them will have the same prognosis, despite the many similarities we may find with each other.
Learning to accept that we do not have the answers is something we all must come to terms with as a special-needs parent. We want to provide our children with a wonderful, happy, healthy life, and we don’t like it when something threatens any of that. While we must accept that this diagnosis, and all that it means, is outside of our control, there are some things that we can control.
We can be advocates for our children. We can share our stories; we can talk to doctors, specialists and therapists and help them provide the best care possible for our children. And most importantly, we can connect with our global KCNA2 family and talk with each other about our kids and what we are doing to help them. In doing so, we help each other. We may not be able to compare our children, or determine how they may function at age 10 or 15 or 45, but we can help our children, even if we don’t know what the outcome will be.
(KCNA2 Mom of 4-year-old)
KCNA2 Board Member