On March 7, 2020, we flew to Ohio for an educational event on hypophosphatasia, not realizing that it would be our last trip in 2020 due to COVID.

Hypophosphatasia is a disease caused by mutations in the ALPL gene. It leads to bone deformity in children, recurrent or non-healing fractures in adults, and frequent use of assistive devices for mobility later in the disease course. The presentation that day was delivered by two physician experts from Cincinnati Children's Hospital. We joined a room full of people who were patients and families affected by the disease.

In the middle of the lecture, we noticed a young girl sitting in front of us suddenly became excited. "It's me!" she whispered to everyone sitting close to her. We quickly learned that the presenter was the physician taking care of her. The screen was showing improvement in her X-rays after she had been diagnosed and received treatment.

A de-identified X-ray film was self-identified in the most innocent way. The story of this young girl has a happy ending. While sitting at home and going through the COVID pandemic, we reflected on the trip we made and the young girl we met. We are hopeful for the future.

  • Mar 9, 2020