One person living with a rare disease may feel unseen and unheard, among the minority. But collectively, the voices from the community of people with rare diseases are significant, and can make a difference. In December 2021, the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families” was adopted, giving visibility to the rare disease community on the global policy landscape. This Rare Disease Day, we hear from two young people on how their rare condition affects their lives, presents challenges to growing up, and what kind of actions they would like to see from society to support them. In the first part of this special feature, Jonah Michio Tan and his mother Yumi tell us about the challenges of living with Hajdu-Cheney Syndrome, an extremely rare condition that causes defects to a child’s bones, teeth and joints.

Image credit: Miyumi Yanagi