advance I am a healthcare professional

 I am not a
healthcare professional
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.

Key question addressed within this educational session:
Högler W, et al. BMC Musculoskelet Disord. 2019;20:80.
Find out more and register

VIDEO HPP diagnosis: from a multidisciplinary perspective What are some of the complexities of diagnosing paediatric patients <6 months of age? In this video, Prof. Padidela, a paediatrician in endocrinology and metabolic bone diseases from the United Kingdom, describes a case of an infant presenting with seizures, respiratory distress and encephalopathy.

VIDEO HPP monitoring: from patients’ perspectives 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.