News

Study Finds Poor Mineralization in Teeth of XLH Children

The teeth of children with X-linked hypophosphatemia (XLH) are marked by defects in mineralization affecting the three layers of hard dental tissue — enamel, dentin and cementum — a small study reports. The study, “Mineralization Defects in the Primary Dentition Associated with X-linked Hypophosphatemic Rickets,” was…

Pandemic Won’t Stop Rare Disease Day on Feb. 28

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Case Study Stresses Importance of Early Diagnosis, Awareness

The case of a woman diagnosed with X-linked hypophosphatemia (XLH) relatively late in life — after the condition had already taken a substantial toll on her physical health and quality of life — highlights the importance of early diagnosis and physician awareness about the disorder, researchers say. The case…

NORD’s Caregiver Respite Program Continues Through Pandemic

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Multidisciplinary Approach Key for XLH, Experts Say in Webinar

A multidisciplinary approach based on pediatrics, orthopedics, and functional therapy specialties is crucial for managing and treating children and adults living with X-linked hypophosphatemia (XLH), experts emphasized on a recent webinar hosted by the European Pediatric Orthopedic Society (EPOS). In the webinar, “8th EPOS Webinar…