KCNT1 is the gene that instructs a specific potassium channel on how to regulate electrical brain activity. A gene mutation of KCNT1 can cause the potassium channel to be overactive, resulting in drug-resistant seizures.
Lexi began having nocturnal seizures at 10 months old.
“I remember googling ‘can babies have nightmares’ trying to figure out what happened,” Megan said. “As we noticed it happening again over the next several days, we called her pediatrician for evaluation.”
Lexi’s seizures progressed to the point that she began experiencing them when she was awake as well. The seizures also progressed in frequency and length.
The family notes that Lexi’s diagnosis was difficult, as she had reached age-appropriate milestones and her seizures did not display in a typical fashion.
“There was no convulsing, or really big body movements,” Megan said. “Instead, they were small. She looked like she was waking up from a bad dream. She would open her eyes really wide and look around, scared.”
Lexi’s was diagnosed with epilepsy at 11 months old, after an MRI, EEG and hospitalization. Shortly afterward she was diagnosed with KCNT1.
KCNT1 is considered exceptionally rare, with about 3,000 cases identified across the globe.
“KCNT1 is more than epilepsy,” Megan said. “In many cases, it is an all-encompassing disease that affects respiratory function, development, sleep, behaviors, and much more. Our families are required to be constantly vigilant: always watching for seizures and new symptoms. In many cases, we are helping educate our doctors on KCNT1 along the way. It requires collaborative work between parents and clinicians, and constant advocacy.”
According to Megan, Lexi’s diagnosis has completely changed the family’s life. Shortly after she was diagnosed, Lexi regressed and lost all developmental milestones. Megan stopped working to become her daughter’s full-time caregiver.
Today, Lexi continues to experience daily seizures and is considered medically complex. She communicates using a Tobii Dynavox eye gaze device.
Both Megan and Ty now work from home to continue Lexi’s care. The biggest challenge for Lexi’s KCNT1 is dysautonomia, the inability to regulate temperature, blood pressure, heart rate and breathing. She also has a tracheostomy and needs a ventilator to help her breathe.
“She relies on us for all activities of daily living,” Megan said. “We have nurses and therapists in our house almost daily. Being Lexi’s caregiver is truly the biggest honor of my life. She trusts and loves her family very deeply. She shows that to us by her eyes softening when we are talking to her, and her body relaxing into us when we hold her. When she is in peace and comfort, we are also in peace and comfort.”
The family includes 10-year-old Cael and 3-year-old Larkin.
“Our other kids are not experiencing a typical childhood,” Megan said. “I have had to miss many events for my son over the years due to Lexington being sick or hospitalized. Our other kids are very resilient, and they love her so much. We try to find joy in our moments together when we are able to get out of the house. At home, we like to do crafts together and spend time in Lexi’s room with her.”
The family’s future is uncertain. KCNT1 clinical trials are expected to begin in late 2026.
“In all likelihood, Lexi’s disease will be life-limiting, and we will one day have to say goodbye to her,” Megan said. “If we are fortunate to see her grow into her adult years, my husband and I will be her caregivers forever.”
Megan works as the parent support and education coordinator with the KCNT1 Epilepsy Foundation, which was founded by a small group of KCNT1 parents.
“It is very important to me that other parents whose children are born and diagnosed with KCNT1 epilepsy are able to find support, resources, education, and friendship,” Megan said. “I never want another family to experience the same hardship and loneliness that my family and many others faced throughout our children’s diagnosis and lifetimes. Our daily life looks much different than those around us. Despite this, our life is still joyful. We don’t need pity, but we do need awareness, research, urgency, and support.”
Contact this writer at writeawayk@gmail.com.
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