Colbie was born on January 3, 2024, full-term following a completely normal pregnancy, labor, and delivery. Weighing nearly 9 pounds, she enjoyed a typical, brief postpartum hospital stay.

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At just four months old, sweet Colbie started experiencing physical movements that quickly escalated to 60–85 episodes a day. After contacting a local pediatric hospital, we were advised to come in immediately for a 24-to-48-hour EEG to determine if these twitching and jerking movements were seizures. Following the test, we returned home, only to receive a call confirming they were myoclonic seizures. She was prescribed Keppra, a widely used anti-epileptic medication. We were assured that she would need to remain on this medication for two years and that there was a 90% chance she would outgrow these juvenile seizures.

 

This, however, couldn't have been further from the truth of her journey.

Like all parents in our CRELD1 family, we intuitively knew something more was at play. I quickly requested a second opinion at a different pediatric hospital, which put us on a fast track to genetic testing. Our answer came when Colbie was eight months old: "Your daughter has CRELD1, and she is only the 19th person in the world diagnosed with it. She may be non-verbal and non-mobile, there is no established life expectancy, and only one published research paper covers this condition."

 

These were words none of us were ever prepared to hear. It was an unbearable report—however, we picked ourselves up and got to work.

Just two weeks later, the emergency room visits began. Every routine illness Colbie caught would trigger status epilepticus—prolonged seizures so severe that our three rescue medications couldn't stop them. These ER visits became far too frequent. Yet, between administering life-saving measures that gradually became our daily norm, life had to go on.

 

Today, Colbie faces intractable epilepsy with five different types of seizures. She also manages hypotonia, global developmental delays, dystonia, Cortical Visual Impairment (CVI), feeding difficulties requiring a G-tube, and previously underwent laser treatment for tongue and lip ties. Additionally, she was born with severe torticollis and plagiocephaly, which were corrected using helmets and therapy. To support her development, she receives an extensive array of therapies, including PT, OT, SLP, Aquatic therapy, Dynamic Movement Intervention (DMI), Hippotherapy, craniosacral therapy, laser therapy, and chiropractic care.

 

In February 2026, Colbie became the first child with CRELD1 to undergo a major brain surgery called a Corpus Callosotomy. She tolerated the procedure incredibly well, and we are deeply impressed by the improvements we've seen since. While the surgery is only expected to mitigate two of her seizure types, leaving plenty of searching and treatment ahead, it marks a massive milestone.

 

Despite her immense medical complexities, Colbie endures. She inspires everyone around her to work hard, stay focused, get back up, and keep trying.

 

Away from her medical schedule, Colbie is a joyful little girl. She loves music, books, and absolutely adores her big brother. She loves being outside listening to the birds, laughing with her family, and spending time with her favorite animal, the horse. Her favorite foods are pancakes and bananas, and right now, she is working incredibly hard to get on the move.

 

Colbie has changed our lives forever. I believe that sometimes things don’t happen to you; they happen for you. In just over two years of life, our journey has been more miracle-filled and grounded in faith than I ever could have imagined. Thank you, Colbie, for teaching us this beautiful way of loving and living.