Zoë’s story is shared by her mom Desiree.
Zoë was the kind of baby who made people smile the moment they saw her. She had dark brown eyes that almost disappeared when she smiled, soft brown curly hair, and the sweetest chubby cheeks. Most of all, she had a joyful spirit. Zoë loved to squeal, coo, smile, and laugh. She also loved to make people laugh by blowing raspberries, which was her favorite thing to do.
Even her pediatrician noticed her personality right away. At her first appointment, when she was only a couple weeks old, he said, “This one is going to be a talker,” because she already had so much to say. I called her my “Angel baby” because she had such a peaceful presence. She cried like any baby, but she wasn’t very fussy. Most of the time she was calm and content, just watching the world around her.
One of my favorite memories is waking her up from a nap and being met with the biggest smile the moment she heard my voice.
Her name, Zoë, means life. Later I learned it can also mean eternal life. Even though her life was short, she filled ours with more love and meaning than I could ever have imagined. Zoë’s newborn screening had flagged a possible citrulline deficiency, which led to additional testing early in her life. All of the follow-up tests suggested it was likely a false positive. At the time, we had no idea that a much more serious mitochondrial disease would later emerge.
She was a healthy baby and was meeting her milestones, but around 4.5 months old we started noticing changes. She wasn’t moving as much and began struggling to hold her head up, signs that something wasn’t right. After that, things declined very quickly.
After weeks of trying to get a doctor to listen to my concerns, we were finally admitted to the hospital. Just days later, Zoë was diagnosed with Leigh syndrome. Only three weeks after her diagnosis, she passed away.
We were still waiting for the genetic results at the time of her passing. It wasn’t until a month later that we received confirmation of the mitochondrial mutation MT-ATP6 m.8993T>G, with 100% heteroplasmy.
Before Zoë, I had never heard of mitochondrial disease. Like many families, I was suddenly introduced to a complex and overwhelming world of genetic conditions, specialists, and questions with few answers. What I do know is that Zoë changed me forever.
She taught me how precious the smallest moments are. A smile. A quiet cuddle. The sound of a happy baby discovering her voice. But most of all, she taught me strength. Even until the very end, she kept fighting to live.
In Zoë’s honor, I wrote a children’s book called The Tiny City Inside Us. The story helps children understand how their bodies create energy and why some kids need extra care.
It was inspired by Zoë and by all the children and families affected by mitochondrial disease. My hope is that Zoë’s story can help bring awareness to mitochondrial disease and that her love and impact continue to live on through the people she touched. Her name means eternal life, and in many ways, that is exactly what she gave us.
