Raising Hope

My daughter was born with a disease so rare that it took seven years to get a diagnosis

- BY LAURA DEVLIN

PENNY was born on July 14, 2017, at 7 a.m. Her weight was average, her vitals were strong and she hit her cognitive milestones easily. But, at around six months old, she still couldn’t crawl, and we noticed that she often had bruises on her head and knees from falling over. My husband, Chris, and I began to feel a creeping sense of unease.

We brought her to see different health care professionals: physiotherapists, neurologists, genetic counsellors. Every blood test and MRI came back normal. Some babies are just floppier than others, they said. But, when Penny finally began to walk, her neck couldn’t support her head, which lolled like a newborn's.

We kept pushing for answers, but then Covid hit. For a while, we couldn’t take Penny to the hospital, and doctors struggled to diagnose her condition over Zoom. At the end of 2022, we managed to get an appointment at SickKids. They ran some genetic tests, but everything came back normal again, so they closed her file. It was incredibly frustrating. It made my husband and I feel powerless and inadequate, even though we knew we hadn't done anything wrong.