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Angie’s Story

In spite of the significant health challenges Angie has faced because of XLH, she feels “blessed” in a number of ways. These include relishing the joys of being an aunt and embracing the fact that she has a condition which makes her unique.
“I’ve got a condition that no one sort of knows about. It makes me unique. I’m different and I’m glad I’m different.”

Like her mother and her brother, Angie is affected by X-linked hypophosphataemia (XLH). XLH can affect those with the condition differently (even those in the same family). As a case in point, when Angie compares herself to her brother she says, “I think I’ve got kind of the bigger double whammy of it.”*

Unlike her brother, Angie suffered significant bone problems. She needed surgery for bone deformities, suffered frequent bone pain and cramps, and had significant limitations on her physical activity.

As she was growing up, XLH caused her to have “knock knees” which affected both her confidence and her ability to keep fit. To worsen matters, the children at her school teased her about the way she walked. Around the age of 13, she had surgical staples inserted in her bones to straighten her knees. The procedure itself also caused her significant difficulty: she recalls “to stand up, I’d have to put one knee in front of the other or I’d have to spread my legs slightly apart to keep my balance.” The staples made her knees badly swollen and painful. Accidentally discovering hydrotherapy helped her to “learn to walk again”.

Angie’s doctor monitored her progress carefully and after ensuring her legs were growing in the correct way, the staples were removed. Angie says that their removal wasn’t as painful as having them put in and that overall, she definitely feels the treatment was quite effective at straightening her legs. Despite that, any weight bearing activity has been “an absolute challenge” for her. She remembers at school that “jogging around the oval was tortuous.” There were things she wanted to do but avoided such as dancing, gymnastics, and typical schoolyard activities like cartwheels.

XLH also affected her teeth and she underwent several rounds of orthodontic treatment to try to straighten them. Eventually however, XLH caused her teeth to loosen, necessitating their removal and the fitting of dentures.

She agrees with her mother and other patients that XLH sufferers develop a high pain threshold. Sometimes she will wake up in the middle of the night with leg cramps but feels that the pain is nothing like the pain she experienced when she had the knee surgery.

As a female with XLH, Angie has a 50:50 chance of passing it on to any of her children. Given her experience with the condition, she made the “huge” decision not to have children because she didn’t want to pass it on and have them go through what she did.

She says the decision is a “blessing in disguise” because she enjoys helping to look after her brother’s children but then gets her freedom after she’s “done my job for the day being an aunt.”

A keen philosopher, Angie also counts her blessings in other ways; “I’ve got a condition that no one really knows about. It makes me unique. I’m different and I’m glad I’m different.”

Disclaimer: This article was written by a medical writer based on an unpaid interview with Angie about her experience as a patient with XLH. * All comments in inverted commas are verbatim quotes from Angie

AP-NP-22-00003 AUG2022

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