Millie’s Story: A Journey for Answers

Millie was born in November 2022, a strong, eight-pound baby in the 80th percentile. From the outside, she appeared perfectly healthy—hitting some milestones early, like rolling over at just 10 days old. But from the very beginning, I knew something was different. I knew when I held her as an infant, and something just felt off. I couldn’t explain it, but I felt it. Then came the full-body tremors, the ones that would happen in the mornings, leaving her shaking—not just in her hands, but all over. The doctors brushed it off. “Babies are just jittery.” But I knew this was something more. As she got older, I noticed her flopping. She would throw herself backward, fall forward onto her face, collapse to the floor without any concern for injury. Sometimes she’d get back up like nothing had happened. Other times, she’d cry—not from pain, but from frustration. Then came the staring spells. She would freeze mid-play, her eyes locked in an intense, almost eerie gaze. Sometimes she’d turn her head just before it happened, as if she sensed it coming. She wouldn’t blink, wouldn’t respond. And then, she’d snap back like nothing had happened. The neurologist dismissed my concerns. “Toddlers stare.” Her fine motor struggles became more obvious. Holding a crayon, picking up small objects, feeding herself everything required so much effort. She could scoop food onto her spoon, but by the time it reached her mouth, it was gone. Her hands couldn’t quite coordinate the movement.

Her speech was delayed. She communicated in her own way—lots of gestures, leading us to what she wanted, but words were limited. She understood so much more than she could express, and I could see the frustration in her eyes. Her weight started dropping. From the 80th percentile… to the 30th… to the 10th… then below the 1st. No matter how much she ate, she wasn’t growing as expected. Her stools were abnormal—greasy, floating, inconsistent. Something was wrong, but the concerns were dismissed. “Some kids are just small.” Her vision became a concern, too. One eye started turning slightly, and sometimes it seemed like she wasn’t focusing quite right. She’s seeing an ophthalmologist now to evaluate what’s going on. Then, her mouth started drooping on one side. Not always, but enough for me to notice. And still, the doctors dismissed us. We saw neurology. They did a 30-minute EEG, which came back normal. “No seizures. Follow up in a year.” But I kept pushing. I researched for hours. I sent letters. I documented everything. I refused to accept being brushed off when I knew something deeper was going on. Finally, genetics listened. They suspected Bainbridge-Ropers Syndrome. CDG. Other metabolic disorders. Whole Exome Sequencing was ordered, and we waited. And then, we got the call. Millie has ASH1L-related neurodevelopmental disorder, an ultra-rare genetic condition with fewer than 150 documented cases worldwide. It is so rare that most doctors have never heard of it.

Millie - ASH1L Warrior

And yet, the diagnosis explains everything.

Her fine motor delays.

Her speech delays.

Her low muscle tone.

Her sensory-seeking behaviors.

Her freezing episodes.

Her unstable gait.

Her flopping to the floor without caution.

Her GI issues.

Her fascination with water.

Her self-directed aggression when frustrated.

Her deep, tight hugs.

Her head shakes and hand flaps.

Her affectionate nature, especially with adults.

Her incredible strength.

It took nearly two years to get here. Two years of being dismissed, of being told I was overreacting, of hearing “she’ll grow out of it.” Two years of watching my daughter struggle while searching for answers. And now, we have a name. The journey isn’t over. Millie has a brain MRI on April 18th, where she’ll be sedated so we can get the best possible images of her brain. She has follow-ups with GI, endocrinology, genetics, and neurology after the MRI. There are still many unknowns, but we’re finally on the right path. Through it all, Millie remains the happiest, sweetest girl. She gives the tightest, most loving hugs. She laughs her way through life, radiating joy even when she’s struggling. I share this because I know there are other parents out there still searching, still being dismissed. Trust your gut. Fight for your child. Keep pushing for answers.

Millie is rare. She is strong. She is herself. And she will thrive.

#MightyMillie