Mark your calendars for Saturday, September 10, from 10:00AM to 9:00PM, as researchers, clinicians, friends, family, and supporters will be gathering for the first XLH Day in Hopewell Junction, NY. X-linked Hypophosphatemia (XLH) is the most common form of inherited rickets. XLH Day will perhaps be the largest gathering of XLH-affected people to date. The event will be hosted by Arlene and Greg Iorizzo and their family at 21 Pondview Road, Hopewell Junction, NY 12533-6346.
Holding an event like this has been a topic of discussion for years amongst the XLH internet community, but it took the right people to come together at the right time to bring it to fruition. Marina Velazquez of New Providence, NJ became involved when she went to the Yale Center for XLH looking for treatment for her and her two affected daughters. There she met a network of dedicated people who had a common vision to make a difference in the XLH community. According to Marina, this first-of-its-kind event will connect people with this disease, many whom have never met another person with XLH face-to-face.
Subsidized by businesses and organizations in the Greater Dutchess County of NY, and Fairfield, Litchfield and New Haven Counties of CT, as well as sponsorship of XLH Network Inc. and private donations, this event will feature presentations by expert clinicians, researchers, and support-related experts, many from Yale University, on XLH and related issues. Live entertainment and a host of children and adult activities will round out the day of introduction and sharing for this first national event.
“There will be a lot of emotion on September 10,” Marina said. “So many people have been suffering without realizing there are others out there they could talk to, share with, and meet. This coming together will change peoples’ lives.”
XLH is the most common form of inherited phosphate-wasting disorders characterized by rickets and soft bones. The clinical symptoms and manifestations of XLH are diverse and vary in severity, but generally include childhood leg bowing, lower leg rotation/torsion, and short stature. Patients with XLH are prone to dental abscesses and corrective surgery for leg bowing or tibial torsion if medical therapy isn’t effective. Adulthood presents patients with additional debilitating and often painful challenges affecting the bones, joints, tendons, and ligaments. XLH is considered a rare disorder, affecting about one person in 20,000. Since it is an X-linked disease, a father with XLH will pass it to his daughters, but none of his sons, whereas every child of an affected mother has a 50-50 chance of inheriting XLH, depending on which X chromosome is passed on. If the syndrome is present, regardless of whether it is a spontaneous case or inherited from an individual's parents, that individual will have the same likelihood of passing on the condition to their children.
For more information or to register to attend, visit www.xlhday.com