Jack & Mikey’s Story

Having a mother with XLH, Jack and Mikey were both tested early to see if they also had the condition. The tests confirmed that they did. Despite treatment with phosphate supplements and active vitamin D the boys went on to have multiple surgeries and suffer other effects of XLH.

At age 5, Jack had bilateral osteotomies to his lower leg bones, and, in the same operation, steel rods were inserted into those bones to provide stability. He remembers at the time the surgery being “quite scary”.*

At age 7, Jack underwent further operations to insert 8-plates on both knees to help guide the growth of his legs. The plates were removed when he was 8 but unfortunately, he had to undergo the procedure again at age 10 before having this second lot removed at age 12.

Mikey also had surgery on his legs but apart from slight pain he remembers very little about his operation. He does, however, remember the difficult challenge of having to learn to walk all over again.

Because of his short stature, Jack received growth hormone therapy and though it significantly increased his height, he feels that his rapid growth caused his right femur to curve. At age 16, he underwent a 3rd 8-plate surgery on his right knee in an attempt to rectify this issue but unfortunately the procedure was unsuccessful. “I kind of feel like I have a bit of a limp because the curve in the upper part of my right leg has shortened that leg a bit.” At the time of this interview, Jack was preparing for more surgery where the 8-plates will be removed from his knee and he will undergo a femoral osteotomy in an attempt to correct the problem.

Jack has also had to endure oral surgeries, but despite everything he is very grateful for the support received from his XLH specialists, saying “it’s really good to know they are trying to know more about the condition to help us further.”

Running has been challenging for both boys. For Mikey it is quite difficult and causes knee pain after about 50 meters. Jack can sprint for a “couple of hundred metres…then I start to feel it, my shins hurt a bit.”

Both boys strongly dislike the taste of the phosphate supplement they’ve had to take. Mikey says “phosphate… disgusting…we don’t like the smell, the taste is terrible.”

Because XLH has restricted their growth, both boys have been frequently bullied. Jack however has used it to develop resilience, saying “I’m kind of immune to it now.”

Now 18 years old, Jack is nervous about transitioning out of paediatric care and wonders if his new specialist will know enough about XLH and whether they will support him as much as his existing specialist does. He also worries a little about the thought of leaving home and having to handle his own medical affairs. Despite this, he remains positive and looks forward to the challenges self-management will bring.

Both have inspiring words for others who have XLH. Mikey hopes that in the future “I would like to see people with XLH to not let it get in their way – to act as if they don’t have it.” Jack urges people with XLH to “stand tall. XLH is quite impactful in your life but you’ve just got to make the most of your life. Try to find people who can support you and eventually things will work out for you.”