The Diagnosis

When she was born, Tilly was the sweetest baby! But as time went on, she started getting fussier and fussier, especially at night. She had what seemed to be really painful episodes of gas, where her whole body would clench up for a moment, then relax, and she would cry. It got to the point where it seemed like she was crying all the time. We gave her medications, we took her to doctors; no matter what we tried, nothing helped her. Things kept getting worse and worse.

Then, when she was only 3 months old, Tilly had a life-changing and earth-shattering event: her first full-blown seizure. Fortunately, her grandpa was there while Tava held her, and he had the presence of mind to whip out his phone and start recording. This led to the greatest time of fear, panic, stress, and worry that we had ever experienced. The next week was a whirlwind of doctors appointments, replaying the video over and over, phone calls, and new anti-seizure medications.

This culminated in a trip to Primary Children's Hospital in Salt Lake City, where Tilly was hospitalized for the first time so that imaging could be done and seizures could be watched. This was during the start of COVID shutdowns, and only Tava was allowed in with her. When the results started rolling in, reviewed first by me at a hotel room with Tava on the phone, we read all sorts of scary things: Tilly was missing parts of her brain, she had severe epilepsy, and the clenching motion was indeed a very dangerous type of seizure.

At the end of it all, which was really just the beginning, we sat down for a lengthy discussion with a doctor who specializes in epileptology, a subspecialization of neurology with an in-depth focus on epilepsy, or seizure disorders. It was with this discussion with this doctor that we first heard the words of Tilly's diagnosis: Aicardi Syndrome. We discussed treatment options, prognosis, and the fact that our lives would forever be different. Even Tilly's survival seemed to be unsure, let alone any kind of predictable outlook for her life.