On March 7, 2020, we flew to Ohio for an educational event on hypophosphatasia, not realizing that it would be the last travel for us in year 2020.
Hypophosphatasia is a disease caused by mutations within the ALPL gene. Bone deformity in children, recurrent/non-healing fractures in adult, and the use of assistive devices for mobility is frequent. However, delay in diagnosis is common. The presentation on that day was made by two physician experts from a local children's hospital. We joined a room of people who are patients and families affected by the disease.
In the middle of the lecture, we noticed a young girl sitting in front of us getting excited all of sudden. “It’s me!” She whispered to everyone sitting close to her. We quickly learned that the presenter is the physician taking care of her. The screen was showing improvement in her X-rays after she was diagnosed and received treatment.
A de-identified X-ray film was self-identified in a most innocent way. The story of this young girl has a happy ending. As year 2020 is getting to an end, we are thinking about the trip we made and the excited young girl we met. We are hopeful for the future.