XLH and Advocacy

Health advocacy — that of patients, families, friends, caregivers, and supporters — can help to improve the accessibility and quality of care available to you and those with X-linked hyperphosphatemia (XLH) and other rare diseases.

Here is more information about health advocacy, its importance for patients with XLH, and the organizations that advocate for people with the disease.

What is XLH?

XLH is a rare genetic disorder caused by mutations in the PHEX gene. These mutations result in the lack, or impairment, of the phosphate-regulating endopeptidase homolog X-linked (PHEX) enzyme. Researchers think that this enzyme controls levels of fibroblast growth factor 23 (FGF23) in the body.

Without properly working PHEX enzymes, the levels of FGF23 rise. This causes the kidneys to reduce the amount of phosphate that they reabsorb, leading to low phosphate levels in the body.

Phosphate is important for the correct formation of bones. Insufficient levels, therefore, lead to bone problems in XLH patients.

What is health advocacy?

Health advocacy involves efforts to support and promote access to quality healthcare for patients on an individual or group level. Health advocates can be professionals or can be volunteers such as friends and family. They can help patients and their families to learn more about the disease and the treatment and care options available to them.

On a larger scale, advocates may work as part of a patient organization or public health association. These groups, in turn, may work to increase awareness and education and advocate to healthcare professionals, legislators, and the general public.

Why is it important?

Many health professionals are unfamiliar with XLH since it is so rare. Low bone mineral density in XLH can appear similar to osteoporosis. Since XLH is a progressive disease, it is important for patients to be diagnosed as early as possible so that they can start treatment promptly to help limit the impact of the disease on their bodies.

Health advocacy can help raise awareness about XLH among health professionals to aid in preventing a delayed diagnosis or a misdiagnosis for patients. Advocacy also is important to increase the amount of research that is done into new treatments and diagnostic tools for XLH. Increased access and availability to medical care for XLH patients through legislative changes also can be achieved through advocacy efforts.

XLH-related advocacy groups

A number of different organizations support and advocate for people with XLH. One such organization is the XLH Network.

Founded in November 1996, it is a group of international volunteers working toward the missions of promoting awareness and education about XLH, supporting research into better diagnostic and treatment methods, and providing resources for XLH patients and their families. As part of these efforts, the group organizes XLH Awareness Month in June.

Notably, XLH Awareness Day is June 23. The group helps generate publicity for the day’s events.

The XLH Network also is a member of another organization called the International XLH Alliance — a group of other XLH patient organizations from around the world.

The members all work together to amplify and focus patients’ voices on common goals, including the development of a standard of care for all XLH patients. The alliance also supports research efforts around the world.

Other advocacy/rare disease organizations

Several other organizations work on advocacy for XLH and other rare diseases. The main organization leading these efforts in Europe is Eurordis. It is a group of over 950 patient organizations across 73 countries that all work together to advocate for rare disease patients. One of the major efforts Eurordis organizes is Rare Disease Day, which takes place on the last day of February every year.

On this day, organizations around the world work through social media and community engagement to increase awareness of different rare diseases and the people they affect.

In the U.S., the National Organization for Rare Diseases (NORD) coordinates Rare Disease Day events. NORD works to increase access to improved and more affordable healthcare for the rare disease community. It has an advisory council that works to influence state governments to modify procedures and policies that affect patients.

Last updated: Feb. 19, 2021

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X-Linked Hypophosphatemia 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.