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The XLH Network, Inc.

Albany, New York

Cause Description:
XLH (short for X-Linked Hypophosphatemia) is a rare genetic disorder affecting 1 in 20,000 people worldwide causing rickets in children and osteomalacia in adults. It is still known by some as Vitamin D Resistant Rickets and is sometimes referred to as Familial Hypophosphatemia. This disorder can be passed down through families on a defective dominant X-Linked gene called PHEX, but new families can be affected as well due to spontaneous genetic mutations upon conception. Most with XLH will develop rickets in childhood, but some only exhibit low phosphorus in their blood. However, if their hypophosphatemia (low phosphorus in the blood) is caused by a defective PHEX gene, then they can pass it down to their offspring with the same or a greater severity. There is a wide variety in degree of severity even within the same family. The XLH Network began in 1996, incorporated as a not-for-profit corporation in 2005, and was also approved by the IRS that year as a 501(c)(3) charity. The organization provides both a public and a members-only website and a listserv discussion group for affected members. These provide a resource for information and emotional support for individuals and families affected by XLH and similar disorders of phosphate wasting, including those with TIO (Tumor-Induced Osteomalacia) which isn't hereditary but causes the same symptoms and is treated the same if the difficult-to-find tumor causing the problem cannot be found and removed. There is no cure for XLH, only a treatment, but very few physicians know about XLH (or these other disorders) and it often goes undiagnosed, misdiagnosed, and/or inappropriately treated. The XLH Network website at www.xlhnetwork.org provides a wealth of information on the subject. The XLH Network, Inc. aims to raise awareness about this little understood condition, both among the public and the medical and dental community, including where to find information on current treatment options. Our listserv currently connects over 1,000 families and individuals affected by these disorders in nearly 50 countries around the world, and is also open to interested professionals dedicated to understanding in terms of support, research and developing new treatments.

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