The XLH Network, Inc.

13 hours ago

I was diagnosed with X-linked hypophosphatemia (XLH) at the age of two, and since then I’ve had ongoing care with endocrinologists and orthopedic specialists. Growing up, I had frequent appointments that included X-rays, blood work.

As a child, I was treated with oral medication before transitioning to Crysvita in 2019. I’ve also had multiple surgeries that required hospital stays, which played a big role in my early life.

Living with XLH continues to affect me day to day. I experience pain, especially in colder weather, and my legs get tired quickly, which limits how much I can walk. Because of my condition and past surgeries, my walking is different, which has been one of the more challenging parts for me.

Even with these challenges, I’m grateful to be able to stay independent and do things for myself. I wanted to be part of this because XLH is not widely known, and I’ve never met anyone else with the same condition. I hope that by sharing my story, others who have XLH can feel less alone and more understood.

#XLH #XLHAwareness #XLHAmbassador #Advocacy #RareDisease #StrongerTogether ... See MoreSee Less

The XLH Network, Inc.

3 days ago

My name is Rene’ Collins, I’m 56 years old and I’m an XLH’er. At the age of six, my mom’s best friend took a picture of us at the beach. When the pictures were processed, they noticed that my legs were abnormal, my ankles were apart and I had knocked knees. We were referred to some orthopedic doctors in Galveston, Texas, at UTMB and given a team of doctors.

Periodically, between the ages of six and eight, they decided to monitor my condition. As a result, I was left in the hospital until I could no longer walk. I was 8 years old. In October 1978, I underwent bilateral osteotomies. I was placed in a wheelchair with a cast from my toes to my hips. This experience was isolating and lonely.

Later, I participated in swimming and water polo and suffered an injury that required me to be taken to the emergency room. As a result, they called an orthopedic specialist from Galveston, UTMB. His name was Dr. Cox and he diagnosed me with XLH. Up until this point, we had assumed that my condition was vitamin D-resistant rickets. When Dr. Cox heard my story, he said, “I know exactly what you have.” Then he referred us to a surgeon in Houston to perform an osteotomy.

I later married and had several children. As far as I know, only my son has XLH. I also worked as a surveyor for several years but left the field because it was not an easy job for a woman in construction. I then drove a semi-truck for five years. Later, I became an activity director and a PTA member. And then life took a turn when I lost a daughter. I gained a lot of weight during this time. My husband also had Alzheimer’s and cancer. I came across an ad for an exercise class called Pound and thought it sounded fun. I attended that class, and it ignited a passion within me that I wholeheartedly embraced.

I am extremely grateful that I am no longer experiencing bone fractures, and for the first time in my life, I have normal vitamin D and phosphorus levels. I have been taking Crysvita for 6.5 years now, and while I am still dealing with issues physically, I am optimistic that things will improve.

#XLH #XLHAwareness #XLHAmbassador #Advocacy #RareDisease #StrongerTogether ... See MoreSee Less

The XLH Network, Inc.

4 days ago

My name is JoBeth Souza. I live in North Carolina. My youngest child is a spontaneous case of XLH. I became involved with the XLH Network seven years ago. I first began volunteering but then applied to be on the XLH Board of Directors. I also have served as the Vice President of the XLH Network and currently, am serving as the President.

#XLH #XLHAwareness #xlhambassador #advocacy #raredisease #StrongerTogether ... See MoreSee Less