Lucas was born in November 2015. He’s a happy and mostly healthy 10 year old with a wonderful personality and sweet disposition. His smile and bright eyes light up the room. He loves watching shows – especially Sesame Street, playing with his toys, listening to sing-a-long songs, socializing with friends and family, and absolutely loves school!

We had an easy pregnancy with Luc and a long delivery. He progressed normally at first, but we quickly had concerns about poor head control, loose muscle tone and missed milestones. Around four months, he started to roll over, but looking back, we’re not really sure how it happened. Everything must have aligned just right for him at the time. The pediatrician told us that he was just on “his own time” but we continued to feel that things weren’t right.

With our rising concerns we started our specialist journey at ophthalmology, and at 7 months, he had strabismus surgery in both eyes. We then saw neurology, leading to an MRI and multiple other specialists, tests, blood work and appointments. We were finally referred to a gene specialist that ordered genome sequencing and he was diagnosed with CACNA1E gene mutation in September of 2017. We knew a diagnosis wouldn’t have all the answers nor the key to fix him; we continued to put one foot in front of the other.

CACNA1E affects Luc in so many ways. He’s globally delayed and has severe developmental delays. He doesn’t sit, stand, walk or talk. He has low muscle tone and epilepsy. He started having myoclonic seizures when he was about 2 years old. It took us a while to understand that’s what the movements were and they were quickly controlled with the right medication. Then in 2020 he started having tonic clonic seizures. He had been seizure-free since 2021, but unfortunately has had a couple of breakthrough seizures recently, in July 2025 and February 2026. All of his seizures have revolved around his sleep stages/cycles. We are hopeful that these are due to growth and only require a med adjustment.

Luc requires maximum daily assistance with almost all tasks, including feeding, dressing and bathing. He is able to swallow purees and mashed foods and has been since about four months of age. He loves food! He can also hold a soft tip sippy cup by himself, so that’s one area of independence for him! He has also started to say a few words including momma, ball, bubbles, brown bear and more. He mainly expresses his emotions through sounds and facial expressions, though he has been using an eye-gaze device and we are hopeful that this allows him to express his wants and desires more easily in the future.

One of the biggest issues he faces is near-constant gas. We work hard to find the right mix of food, drink, medicine, and manual pressure and manipulation to get that gas moving. It can cause him pain and is very hard to navigate since he can’t communicate his pain.

He participates in therapies at school and in private practice. We also do a movement therapy called ABM once a month which consists of 6 lessons over the course of a weekend. We've seen a lot of positive results in his movement, muscle control and tolerance with these therapies.

Finding the CACNA1E support group on Facebook after years of searching for a community has been indescribable. It has provided immense relief and connection that is so vital in pursuing hope and resources. We are hopeful for great things to come for individuals and families navigating this diagnosis. When facing a rare genetic diagnosis, it does not define or limit a child’s capacity for love and joy. Lucas is the living definition of the human spirit’s resilience: his journey proves that when we meet a child’s needs with specialized care and early intervention, we don’t just change a life - we allow a “bringer of light” to truly shine. We are so grateful to share this journey with our beautiful, strong boy.