Being familiar with the genetics of X-linked hypophosphataemia (XLH), Royce and Angela knew that Royce’s XLH would be passed on to any daughter they may have. Whilst Georgia’s XLH diagnosis was initially confronting, they have faced it with enormous courage, determination, and unwavering care.
“My daughter is magical. I wouldn’t have it any other way.”
Like her father Royce, aunt Angie, and grandmother Sue, Georgia has X-linked hypophosphataemia (XLH). Her mother Angela says that prior to starting a family she and her husband Royce “spoke very openly and honestly, so I had a really great understanding of the condition and the family history before we decided to have kids.”* Nevertheless, after falling pregnant she found it confronting to find out they were having a girl as she knew XLH would be passed on to any daughter fathered by Royce.
It was difficult for Angela to see Georgia start taking phosphate supplements at 3 months of age, saying “it seemed like she gagged on it.” She was also concerned as to how Georgia’s medication could be administered at kindergarten, not to mention all the paperwork required for workplace health and safety precautions every time the dosage was changed. She worried too about the possibility that Georgia might refuse to take the medication and was concerned that, as she got older, she might throw it away as Georgia’s father did with his phosphate medication when he was at school. As well as phosphate supplements, Georgia was prescribed active vitamin D twice a day to help manage the condition.
The frequent medical appointments and assessments required to manage Georgia’s condition were also difficult for Angela and Royce: “it’s heartbreaking when you’ve got to pin your child down”.
Angela is very conscious about the possible issues that Georgia might face as she grows older such as restricted growth, bowing of the legs and “how other kids would treat her.” Indeed, XLH caused Georgia to be pigeon-toed and affected her gait. She would also fatigue very easily with Angela commenting: “That would turn into her being naughty” because being so little she couldn’t express how exhausted she was. “From the beginning” she says, Georgia was “a really cautious child. She would avoid physical activity” like riding her bike.
Royce says that since becoming Georgia’s father and through the influence of Angela, who he says is “such a good partner and such an amazing mum,” his outlook on XLH has changed considerably. The effect that XLH has had on Georgia and the emotional impact it has had on his wife Angela has “certainly made me more aware of how the condition can be quite hard to deal with emotionally, physically, mentally and how there are a lot of hurdles to overcome with medications, appointments and any complications that could arise.” He considers himself to have “gotten off really lightly” from XLH and is aware that Georgia may not “get off as lightly as I have.”
Royce and Angela are not only concerned about the challenges that face Georgia while she is young but also those she may face as she ages. Their hope is, as with all families dealing with XLH, that advances in treatment therapies mean patients will soon be able to live lives free of the many burdens associated with the condition.
Disclaimer: This article was written by a medical writer based on an unpaid interview with Angela and Royce about their experience as parents of a child with XLH. * All comments in inverted commas are verbatim quotes from Georgia’s parents, Angela or Royce.