On Rare Disease Day 2025, we delve into two rare diseases, Osteogenesis Imperfecta and Primary Hyperoxularia.
Primary Hyperoxularia is a rare, inherited metabolic disorder that disrupts the body’s ability to properly metabolise glyoxylate, leading to excessive oxalate production. It is often mistaken as a idiopathic kidney stone disease.
Read more: What is it like to live with Primary Hyperoxularia?
Osteogenesis Imperfecta, commonly referred to as brittle bone disease, is a rare genetic disorder characterized by increased bone fragility, frequent fractures, and variable skeletal deformities (Hill et al., 2022).
Read more: What is it like to live with Osteogenesis Imperfecta?
About 30 million people in Europe live with a rare disease, which are characterised by a wide variety of symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.
In these two articles, we explore the daily burden of the diseases, the challenges of obtaining a diagnosis, which can be a long and difficult odysseys, and how Together4RD’s pilot projects between ERNs and industry are seeking to alleviate the disease burden.