Her pregnancy was normal, the delivery was perfect, but right from the first days of her new baby’s life, Annie Kuehl was worried. Chase was too small, even for a newborn. He wasn’t roly-poly, like a baby should be. “He didn’t look like my other children,” she says now. “I almost had a feeling inside me that he was different.” On the third day of his life, when he stopped breathing and had to be airlifted to the pediatric intensive care unit, that feeling got stronger. But the brief report they gave her afterwards suggested nothing serious was wrong with him. He was too cold, that newborn discharge summary said, and hadn’t been eating enough. The implication: She should make sure he gets enough food, and he’ll be fine.

But he wasn’t. “He had a really rough first year,” says Kuehl. He didn’t breathe right, he was far too thin, he wasn’t sitting up or babbling. And he kept getting infections, spiking terrifying fevers over 105. That first year, they rushed him to the emergency room at least 10 times. Every time, this tiny, sickly baby was poked with needles for blood draws, pumped full of antibiotics and zapped with X-rays. No one offered a solid diagnosis, and Kuehl noticed the ER staff starting to treat her like one of those ladies, a crazy mom. “We felt ridiculous, and they made us feel ridiculous.”

By the time Chase was a year old, Kuehl was at the end of her rope. One night, while soaking in the bath, she broke down sobbing. What were they going to do? How could she get somebody to take his problems seriously? That very night Chase had a massive, 45-minute-long seizure. They went back to the hospital, and three days of tests later, there was finally a diagnosis: Phelan-McDermid syndrome, a rare genetic disorder that had caused every one of his symptoms.

She soon learned at a Phelan-McDermid family conference that because the disease was rare and complex, she should get her child’s entire medical record, to help manage all the specialists and appointments. This is more than the brief synopsis available through online patient portals — it’s the whole deal, every image and every note. Getting it was surprisingly easy: Chase’s geneticist quickly forwarded it to her.

In that record, she found a devastating surprise: the doctors that attended Chase’s birth suspected he had a genetic syndrome from his first days of life. Right at the start, they’d recommended Chase get a spinal MRI, have a consult about his kidneys, and visit a genetics counselor. That last part was especially hard to hear. A genetic specialist would’ve almost certainly identified what was wrong with her baby. It was all right there, but the information never got to her. “I was just floored,” she says. “I never realized there was more in his file.”

Today, Chase, almost 5, has kidney problems, and he still doesn’t talk. But he’s a happy kid, says Kuehl: Considering what he’s dealing with, he’s doing awesome. Still, Kuehl can’t help but think about what could’ve been different. If she’d known her baby had a genetic malfunction that prevented him from controlling his body temperature, she could’ve prevented his high fevers. She would’ve arranged physical therapy and speech therapy right away, to help him develop. There wouldn’t have been all those panicked trips to the hospital, and all those unnecessary tests, and a thousand more coulda-wouldas. It breaks her heart to think about it, she says, and it’s convinced her that access to medical records is essential: “What do we have in our files? We’re entitled to that information.”

THERE’S MORE! TAP THE IMAGE TO GO TO THE MAIN STORYIllustrations by Señor Salme for Backchannel.