Patients with X-Linked Hypophosphatemia (XLH) are living the theme of this year's Rare Disease Day: "Research brings hope to people living with a rare disease." One of these patients is the daughter of a University of Southern Mississippi faculty member in Hattiesburg.
Virtually all of the estimated 7,000 identified rare diseases have no truly effective treatments available, and until recently that was the case with XLH. This year, though, XLH patients, including the Inman family, will celebrate Rare Disease day Tuesday, Feb. 28 with renewed hope as researchers close in on what appears to be an effective treatment.
XLH is a rare genetic disorder affecting approximately one in 20,000 people. Patients produce an excess of a hormone known as FGF23, which causes them to have low levels of phosphorus in the blood. Without an adequate source of phosphorus, the body cannot form strong bones and teeth or properly fuel muscles. In the absence of treatment, patients experience bone deformities (most commonly bowed legs or knock-knees), short stature, spontaneous tooth abscesses, bone pain and muscle pain/weakness.
Clinical trials of the new treatment, known as KRN23, have been promising so far, and Sanders Inman, a fourth grade student at Benedict Day School in Hattiesburg, is a participant in these trials. This Rare Disease day, the XLH community is hopeful that with this treatment or others still in the pipeline, children born in the future will grow up strong and energetic.
Joyce Inman, a member of the Department of English faculty at Southern Miss, hopes this research has led to a new therapy that will not cause the same problematic side effects of the only other therapy available to XLH patients. "Being part of a research trial has been intimidating," she says, "but it is so worth it. My daughter’s health is clearly better, and we are helping to pave the way for others."
Inman said raising a child with a rare disease comes with significant challenges in terms of diagnosis, health care, and advocacy. After Sanders was diagnosed with XLH at the age of two, Inman joined The XLH Network so she could work to advocate for other families struggling with this disease.
“Our family is very blessed in that we are able to access the best doctors for our daughter, and we have the means to advocate for her,” Inman said. “Many families, however, are not in our situation, and I think it is important for communities across the globe to think about their local families who are up against significant odds when it comes to getting care for themselves and their children.
“Rare diseases simply do not receive the same attention and funding for research and treatment, and it is important that all families have access to the very best of care.”
Founded in 1996 and growing daily, The XLH Network, Inc., a 501(c)(3) non-profit, helps thousands of people around the world affected by XLH and related phosphate-wasting disorders. With the generous guidance of a Scientific Advisory Board, the Network engages in education, advocacy, and patient support by providing up-to-date information on diagnosis, treatment, research and clinical trials to patients, caregivers, medical providers, researchers and other key players in the medical services industry. The Network also fosters the search for better treatments and ultimately a cure.
For more information about the XLH Network, visit www.XLHNetwork.org. For more information about Ultragenyx Pharmaceutical, visit www.Ultragenyx.com; for more information about the KRN23 clinical trial data, visit http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=989901. Learn more about Rare Disease Day 2017 at www.rarediseaseday.org. For questions, contact Inman at email@example.com.