As clinicians focus on clinical data/parameters, it is important to consider how life with hypophosphatasia (HPP) goes on – from the patient’s perspective. In this video, Mel and Jenn, mother and daughter of a family based in North Wales, United Kingdom, discuss their experiences in managing HPP within the local healthcare system. They focus on the challenges of accessing timely and coordinated care, and the ongoing burden of managing HPP on their daily lives, including the impact on their mental health. Mel emphasises the importance of patient advocacy and the need for improved support systems, as well as advocating for better communication between specialists and GPs to provide more comprehensive support for individuals with rare diseases. At the end of the interview, Jenn and Mel visualise what they would love to see at their daughter/granddaughter Alaw's 18th birthday party, expressing their hopes that, as HPP care advances, Alaw will be able to do things that mum and grandma couldn’t do – wear high heels, drive to places, go and see the world.

Misconception addressed within this educational session:
Szabo SM, et al. Orphanet J Rare Dis. 2019;14(1):85. Weber TJ, et al. Metabolism. 2016;65:1522–1530.

VIDEO HPP diagnosis: from patients’ perspectives 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.

VIDEO Introduction to HPP and the HPP diagnostic criteria This session provides a concise overview of hypophosphatasia (HPP), an inherited, metabolic, systemic, rare disease that affects people of all ages with a broad spectrum of clinical manifestations, high disease burden, and substantial negative impact on quality of life.