When Scotty Sims' daughter is born something seems off to her, but everyone around her dismisses her concerns.
Before her career as a crisis therapist, where Scotty Sims provided support and assessment to children and adults with severe and persistent mental illness, Scotty served as a forensic interviewer, trained to work with children who were victims of sexual abuse for multidisciplinary teams and the court system. Drawn to helping others, she found purpose in roles that allowed her to support people facing significant challenges.
After her daughter was born and diagnosed with KCNQ2-DEE, Scotty identified a lack of support systems or resources for caregivers of those with KCNQ2-related disorders. This led her to create the international KCNQ2 parent support group, a community connecting families and caregivers. Through this group, she met other families who shared a vision for support and advocacy, leading to the first KCNQ2 summit in Colorado, which brought together families, clinicians, researchers, and industry stakeholders. Recognizing the need for ongoing resources and research funding, Scotty co-founded the KCNQ2 Cure Alliance, which is committed to advancing support and research initiatives. Scotty Lives in Denver with her husband and two children.
In 2011, before our daughter Harper was born, we thought it would be sweet for her five‑year‑old brother Aiden to give her a nickname. Then when we asked him what he would like to call her, he paused. He scrimped up his nose and, in deep thought, finally said, “Nesba.”
Seriously, I think he just made that up.
The next day, I shared the story with a co‑worker, who, just for fun, said, “Let's Google it.” What popped up stopped us both. In the Navajo language, Nesba is used to describe someone in battle, a warrior.
Harper, my warrior, was born on a chilly spring day in May, surrounded by my husband, Jim, my parents, and our son Aiden. I was flooded with all the emotions of the past nine months. But just an hour after she arrived, I noticed something seemed off. She had moments where her body would stiffen, she would arch her back, and her eyes would roll up. Her lips would turn blue.
My gut stirred. There was something I just couldn't shake. I whispered to my husband, “I think this sounds crazy, but I think she just had a seizure.” He looked at me concerned, even a bit confused by my statement.
And then I told the nurses, the doctors, and our pediatrician over and over. Each time, I was met with soft, well‑meaning dismissals. “Oh, it's probably just a startle reflex.” “It's just acid reflex. Try to rest, Mom.”
You see, I worked as a crisis therapist, a first responder, and a forensic interviewer for children of sexual abuse, so I knew the importance of being heard, of having support and having community. I now felt unheard, unsupported, and alone. But I knew, I just knew something was not right.
In an attempt to pacify me, they had a nurse sit and monitor Harper. Then it started again. The oxygen desaturations paired with more contorted movements. Still, no one was listening. I was screaming inside. My anxiety and adrenaline were building.
Eventually, we hit a crossroads. They were going to discharge her or admit her to the NICU for more monitoring. And while waiting for what seemed like an eternity for the doctors to make their decision, I stood there not feeling quite in my body. It was as if I was watching someone else's life unfold. I felt no panic, no tears, just a hollow stillness. It was like my mind had wrapped itself in cotton to muffle the weight of what might be coming.
The initial adrenaline I had been feeling for the past 48 hours had plummeted, and time had slowed down. I felt like I was encased in numbness. They moved us to a small triage room, which was filled with humming monitors, staff moving in and out, and conversations of which I just don't recall. But what I do remember is looking out that door and across the hallway. Behind the glass wall stood my mom. She wasn't allowed in the triage room. She stood there, hands clasped tightly to her chest, her lips moving slightly. It's like looking at a mirror. That same helpless, terrified expression on her face was carved into mine. We were two mothers on opposite sides of the glass feeling powerless.
Then it happened. Harper jerked, another strange movement. It wasn’t dramatic, but it was wrong, so wrong that even the doctor stopped talking. And then the neonatologist said that one dreaded word, “Seizure.”
Finally, validation. I was not crazy. I wasn't overreacting. I'd known something was wrong. That brief surge of validation was followed by a tidal wave of fear. And just like that, my two‑day‑old baby was transported via flight for life to the NICU at Children's Hospital.
The next six days were a roller coaster. MRI, spinal taps, EEGs, needles, tubes, wires, cameras, and the dreaded red button that we pushed countless times an hour to indicate that she was having spasms and seizures. Except for her EEG, her tests all came back normal. So we did genetic testing.
And one gene popped up, KCNQ2, which was tied to epilepsy, but only in inherited cases. So it wasn't us. We had no family history of seizures.
You know, all I wanted was a diagnosis. I just wanted clarity, so I could find a community. We were told she had a rare, severe epilepsy syndrome.
And then the words came. “Don't look it up. You should prepare yourselves. She may not leave the NICU.”
Who tells a parent that expecting them not to look it up?
Four weeks later, we were sent home with few answers and thrust into a new kind of chaos. Medication every two hours, daily therapy, constant appointments, and learning to navigate the complexities of the health care and insurance systems.
And that final stake to my heart during one of her outpatient appointments, we were told, “Your position is not good. It's just short of losing a child.”
So we sought a second opinion. Based on her EEGs, they said, “The pattern is similar to her current diagnosis, but there's something different that we've just not seen before.”
So with no real direction, we went for a Hail Mary and we tried a different medication. And the seizures and spasms just stopped. Don't get me wrong. We were grateful. But now we had a new chapter, just as heavy, just as unknown. Our fear had not disappeared, but it had simply changed shape.
Nine months later, I was holding laundry when my husband called out to me, “I think I found Harper’s diagnosis.”
He had found a scientific paper published earlier that month and it described a new genetic disorder based on the gene listed on Harper's genetic report. But this type was not inherited. It was called de novo, meaning it just happened by chance. It was called KCNQ2 encephalopathy.
Every detail, that’s Harper. It was like reading her symptoms in print. Nearly a year after she was born, we finally got a diagnosis, KCNQ2 Developmental and Epileptic Encephalopathy.
You know, we thought getting a diagnosis would bring clarity, direction, treatment, but it didn't. There was no roadmap, no experts, no community. I was filled with a constant invisible weight of uncertainty. I realized we weren't joining a community, so we were going to build one.
That's when the real war began. I started building the community I had so desperately wanted to find, the one that I thought would be waiting for me when she got her diagnosis.
We had always said that we went to the end of Google and back. I found the other parents and we built an online support group, and we began fighting, not just for our children, but for all of those diagnosed with KCNQ2 Developmental and Epileptic Encephalopathy. Still, we move forward. We learned. We adapted. We stood up for each other.
Today, Harper is 14. Her daily challenges are immense. She is a fighter. She is strong, funny, and so deeply loved. She has taught me to be a fighter, and I will keep fighting. And while I prepare for our next battle, she remains a warrior. She is Nesba.