As clinicians focus on clinical data/parameters, it is important to consider the realities of living with hypophosphatasia (HPP) – from the patient’s perspective. In this video, members of a family based in North Wales, United Kingdom, share the stories of individuals from three generations as they go through their diagnoses of HPP. Mel, Jenn and Alaw experienced different journeys to receive a diagnosis of HPP. Together, their stories call for increased awareness and education among healthcare professionals regarding HPP to facilitate earlier and more accurate diagnoses. They highlight the challenges of misdiagnosis and delayed recognition of symptoms, and the lack of a comprehensive understanding of diverse manifestations of HPP. The stories from this family also inform the importance of experience sharing and provision of resources within the HPP patient community – it was Mel’s long journey to HPP diagnosis and the learnings through the process that reduced the time taken for her daughter, Jenn, and granddaughter, Alaw, to receive their HPP diagnosis.

Misconception addressed within this educational session: