As she watched her second daughter fail to grow throughout her toddler years, Rachel Stuartbecame increasingly worried that something was not right.
Unlike her older sister, young Sophie was "just not thriving", and was failing to put on weight or gain much height.
But it took three years of appointments with multiple doctors, with one performing 14 different blood tests on the toddler, before a pediatrician finally recommended a chromosomal test.
One simple blood test later, Mrs Stuart learnt her five-year-old daughter was missing an X-chromosome – a genetic condition known as Turner Syndrome.
"I had no idea what [Turner Syndrome] was, I was just elated that they had finally found something," Mrs Stuart said. "Then on reading the details about it, I was very sad – I cried for two weeks.
"But at least with the diagnosis we can manage it and do something about it."
The syndrome, which affects about one in every 2500 girls in Australia, limits growth and oestrogen production, causing long-term infertility as the ovaries begin to die from the time of birth.
Many girls born with the condition are not diagnosed until they fail to undergo puberty or struggle to conceive, by which time it can be too late to treat.
Since her diagnosis nearly a year ago, five-year-old Sophie has been injected nightly with growth hormones to help her develop at a normal rate, a procedure that will continue until she is 15 years old.
Shortly after the diagnosis, Mrs Stuart joined the Turner Syndrome Association of Australia, and has since become determined to spark awareness of the syndrome that is common across Australia.
This May she will run The Sydney Morning Herald Half Marathon to raise funds for the charity, to fund research and community support programs.
"I've done two marathons and about four half marathons before, so I thought I'd use the run to raise awareness about the syndrome ... both for the public and for doctors," Mrs Stuart said.
"I decided that since I do run already that I would start fundraising each time I ran to help promote awareness and raise funds for research."
She and her family are hoping her running efforts could provide other girls with the syndrome with better access to information and support systems, with further opportunities for early treatment.
In the long term, Mrs Stuart is hoping to encourage clinical procedures that will allow part of Sophie's ovaries to be frozen before they deteriorate around puberty, so one day she could have children of her own.
"I wouldn't say the doctors are not aware, but it's just not necessarily in their thought process when diagnosing," she said.
"Sophie is a very positive girl, with a positive outlook on [her treatment]. But more awareness will help other people understand why they're not reaching milestones."
The Sydney Morning Herald Half Marathon is on May 21, 2017. Early bird entries, where you can save $25 and earn 1000 Qantas points, are open until March 21. Register at smhhalfmarathon.com.au
