Raising Awareness About XLH

Raising Awareness About XLH

The symptoms of X-linked hypophosphatemia (XLH), including weak bones and muscles and pain, make life challenging for both patients and their caregivers. Often adding to those difficulties is a lack of understanding from others who know little — or nothing — about this rare genetic disease.

Following is some information that may help you raise awareness about XLH.

What is XLH?

One of more than 6.800 rare diseases, XLH is a progressive genetic disorder characterized by low levels of phosphate in the blood. The disease, which is caused by mutations in the PHEX gene located on the X chromosome, occurs in about one in 20,000 live births.

Why awareness of XLH is important

As with many rare diseases, physicians frequently misdiagnose, under-diagnose, or misunderstand XLH.

However, the sooner a patient receives an XLH diagnosis, the sooner treatment can begin to improve or maintain quality of life.

Greater awareness also tends to generate more support from researchers, which ultimately could lead to new therapies and possibly a cure for the disease.

XLH Awareness Month

June is XLH awareness month. Organized by the XLH Network, its purpose is to call attention to the disorder and raise funds for research and patient care.

As part of the event in 2020, the organization asked supporters to make videos of themselves singing the “XLH fight song” for the #XLHStrong Karaoke Challenge. The XLH Network also provided basic information about the disease to share with family and friends. The organization chooses a different patient from around the world each June to be an XLH awareness ambassador.

The XLH Network also features XLH facts posts., where anyone can pose a question about XLH and the organization tries to answer it. It also posted an article by Global Genes about the stigma of rare disease and provided an awareness day Facebook frame.

Within the awareness month is XLH Awareness Day, June 23. Every year, the community works to educate the public about the disease and celebrate those who live with it. The event was virtual in 2020, but there were state and local proclamations and other events.

Other awareness efforts

The International Osteoporosis Foundation (IOF) recently opened a global initiative to increase awareness and understanding of rare skeletal diseases such as XLH.

The mission of the IOF Skeletal Rare Diseases Academy is to support research advances into the more than 430 genetic disorders involving the skeletal system, including XLH, while promoting education and training of scientists and clinicians.


Last updated: Sept. 4, 2020


XLH News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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