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When Esmé was born, it was clear pretty quickly that something wasn’t quite “right.” She wasn’t breathing well, she was blue, and her tiny body was very limp. After some time in the Neonatal Intensive Care Unity (NICU) she started breathing well, but the limpness (or hypotonia/low tone) never went away. Her tone was so low that it interfered with her ability to eat easily and she had terrible reflux. By three months old Esmé was failure to thrive (FTT) and could not hold up her head. But Esmé was a cheerful child, who made strong connections with her loved ones through her beautiful big blue eyes and whose smile could light up an entire room.

At just over 3 months old Esmé had a severe aspiration (when food goes into your lungs) and experienced cardiac and respiratory arrest. She spent two weeks in the Pediatric Intensice Care (PICU). She had been inhaling her food both as she ate and, again, as she vomited and refluxed. At this point Esmé had a feeding tube placed and a nissen fundoplication surgery to prevent reflux. This point in our story began our search for genetic answers to Esmé’s condition. Esmé had many of the features of various syndromes and medical conditions but the genetic, metabolic, endocrine, and neurological testing always came back without answers for us.

When Esmé was 8 months old she was still unable to hold her head, and she was so happy, but almost entirely silent. It was around this time that we saw what we suspect was her first seizure: very slight tremors in her hands and feet. After the first of many “normal” EEG tests we were assured that this was not a seizure. Over the next few months she had other similar “spells” that we disregarded, until at just shy of 12 months she stopped breathing and turned blue several times in one day. It happened so quickly that we weren’t sure what we saw, but with the last two happening close together, we called 911. She had another seizure in the Emergency Room. The nurse witnessing it said it looked like a seizure: Ezzy’s heart rate skyrocketed and her oxygen plummeted. Esmé was admitted to the PICU and monitored overnight. Her EEG was, again, “normal.” Again, we were told she was not having seizures.

This dance continued for many months with most doctors agreeing that Esmé’s seizures (which we caught on video) looked like seizures, but her EEGs were normal. Her seizures began to take on a clear clustering pattern: She had around five seizures about once a week, almost like clock-work. This, we were told, would be VERY unusual for seizures.

Finally we found one doctor who knew what we knew: Esmé was having seizures, no matter what her EEG said. With her we built a team of doctors who started to understand that Esmé is that rare child who has seizures and normal EEGs even sometimes when having seizures! They stuck with us and fought with us until in August 2012, almost a full year after her first suspected seizure and after about two weeks total of EEG monitoring, we caught a seizure and saw on the EEG that her seizures come from very deep in her brain…and are VERY hard to pick up.

Six months after that, when Esmé was just shy of two years old, we finally had a genetic explanation for Esmé’s epilepsy: PCDH19. It was a relief to know, in many ways. And it has become an amazing comfort to know that we have the support of the PCDH19 community, that people out there are fighting for our girls, all pulling in the same direction.

However, at two years old Esmé’s severe low tone persists. She is strong, but all of her joints are very loose. She cannot sit unsupported and uses a gait trainer for mobility. She does not speak, but understands so much about what is happening around her. She is still tube-fed. We are told that Esmé’s tone is likely unrelated to her PCDH19 mutation, and she is suspected to have a second syndrome of some sort.

Esmé remains cheerful, determined, and goofy. Despite her many struggles she is a complete joy. She remains a beautiful (and mysterious) light in our lives.

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