The XLH Network, Inc.

2 days ago

I am a dedicated educator living in Houma, Louisiana, where I share my home with my husband, our child, and a lively assortment of family pets—including three dogs, two cats, and several fish. I balance my busy home life with my passion for education, working as a teacher at École Pointe-au-Chien, a French immersion school dedicated to preserving and cultivating language and culture in Louisiana.

As a child, I was diagnosed with X-linked hypophosphatemia (XLH), a form of hereditary hypophosphatemia that alters bone mineralization. My parents first noticed something was wrong when I stood up; my knees would press together tightly, but my feet remained wide apart because I was severely knock-kneed. After an initial visit to a foot doctor who recommended corrective shoes, we went to Children's Hospital. There, a pediatric surgeon explained that my growth plates were closing prematurely and recommended a specific surgical procedure to close the growth alignment on the inside of the bones so the outside could catch up. My early treatment plan included traditional calcium and vitamin D supplements, but today, I manage my condition and thrive with advanced treatment. My journey with XLH continues to be deeply personal, as my son has also been diagnosed with the condition.

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The XLH Network, Inc.

3 days ago

Becky lives in Greenwood, Indiana. Her husband Donald has XLH and at least 6 generations of his family had XLH as well. The XLH Network has guided her and her husband to many resources for those with XLH but also to a community of friends. This motivated her to want to volunteer and help others learn about the community of support available and to help advocate for those who live with XLH. Becky has served on the Board of Directors for 2 years and became the Treasurer this year. Becky works for a medical insurance company as an Associate Director in Regulatory Affairs and has been in the insurance industry for 24 years. She volunteers in the nursery at her church and her hobbies include scrapbooking, board games and sewing purses and bags.

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The XLH Network, Inc.

4 days ago

My name is Heidi, and I am from Waterbury, Connecticut. I am a third-generation patient with inherited X-Linked Hypophosphatemia (XLH). This is a rare, genetic, and progressive disorder characterized by low blood phosphorus due to renal wasting, which causes soft bones, stunted growth, and severe dental issues.

The condition was passed down from my paternal grandmother to my father, and then to me. I have a daughter, making her the fourth generation of XLH in my family. I was extremely confused when she was born because I was always told the condition would pass to a son, not a daughter. Being the only female in my family, I am navigating the unique reality of passing on the gene from mother to daughter.

I am still taking the same oral medication that I started 40 years ago. Life has been extremely difficult. Despite going through several reconstructive surgeries, I was a very active child. I participated in Jump Rope for Heart, played sports, joined academic competitions, rode bikes, and roller-skated. I aimed to achieve as many goals as possible because I refused to let XLH break me. Back then, the medical approach we were taught was simply "break it, fix it, and make it better with a few vitamins."

Unfortunately, the condition gets worse by the day. I constantly battle the overlapping struggles of XLH, restless legs, arthritis, osteoporosis, endometriosis, scoliosis, obesity, PCOS, and vertigo.

However, the truest struggle is the constant need to explain XLH to the world. I have to explain it to school bullies, endodontists, endocrinologists, general doctors, dentists, hygienists, and insurance companies—only to be denied coverage for essential care. Most people ask, "What is that deficiency? I've never heard of it." They are right, because there is still so little public knowledge about it. I want to spread awareness, foster better understanding, and advocate for patients like me.

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