Royce’s earliest memory of being treated for X-linked hypophosphataemia (XLH) was the phosphate supplement he had to drink five times every day. He recalls it being tolerable to begin with but ‘torture’ after being on it for several years. “We tried absolutely everything from mixing it with orange juice to chasing it down with a glass of Milo. But it was really hard to take at the end”.
In addition to the challenging taste and frequent dosing schedule, one of the side effects of the phosphate was “quite bad diarrhoea. It was really awkward and really hard to deal with”.
Royce had to deal with numerous painful physical experiences as a result of XLH. He had multiple dental extractions and he also underwent several years of daily human growth hormone injections. However, he maintains that the experience of getting the growth hormone needle was much easier to deal with than drinking the phosphate.
When his specialist decided to stop phosphate therapy for Royce around age 15, he called it “a hallelujah moment. It was so, so good. And I had good steady bowel movements that I hadn’t had for 15 years.”
Despite being relatively symptom free, Royce had a sense of being “a bit different” when he was a child. He recalls it feeling a bit strange when he had to undress so that his specialist could check the straightness of his legs – “do all the kids do this?” he wondered.
Being teased by other children because of how XLH affected the way he walked and ran could have caused him much more distress, but he quickly learned to turn things around on his potential tormentors by pointing out that “people are different, most people have some sort of condition and mine was XLH.”
Despite his experiences with XLH, Royce remains remarkably upbeat. He says, “I’ve gone on to have a really good life, a happy life. Physically it hasn’t limited me too much, if at all. I didn’t avoid much physical stuff myself. I didn’t suffer from any bone pain”.
Coming from a strong and supportive family unit, Royce always wanted to start his own family, but he was very “cautious and measured” when considering it. He discussed the issues of XLH inheritance in depth with his wife Angela, early in their relationship. Even with his own resilience and natural optimism, it was very confronting to see their daughter Georgia diagnosed with XLH. Seeing her subjected to numerous blood tests, medical examinations, and ongoing doctors’ appointments required to manage the condition was “pretty hard” for him.
Royce’s positive outlook extends to Georgia’s future; he anticipates that medical advances to treat the underlying cause of the condition will allow her to live her life to its full potential, free from the obstacles and difficulties that XLH forced him to contend with over the course of his own life.
Disclaimer: This article was written by a medical writer based on an unpaid interview with Royce about his experience as a patient with XLH. All comments in inverted commas are verbatim quotes from Royce.