Rare genetic disorder hits
A FEW days after her 20th birthday, Megan Perry perched awkwardly in a chair in her doctor's office.
Taking in the death sentence calmly delivered by her doctor, she knew not to shoot the messenger.
She did not shed a tear. But as she stepped into the car park, reality hit and she could not help but cry.
Megan, from Gympie, is one of only a handful of Australians diagnosed with Friedreich's ataxia: a rare genetic disorder which will eventually leave her wheelchair-bound and dependant on others.
A degenerative disorder, FA affects the nervous system, possibly resulting in muscle degeneration, loss of balance, co-ordination and muscle control, deafness, or speech and eyesight problems.
Patients may also suffer from scoliosis, diabetes and heart disease, which is often the cause of death. Life expectancy is about 35-50 years.
Scientists estimate sufferers will require a wheelchair within 10 years of diagnosis and despite Megan's later onset of symptoms, she cannot help but feel disheartened about her future.
"There's a girl who's my age and she can't walk unassisted at all, and I hear specialists saying, 'oh, you're so lucky' and 'wow, that's good', but I don't feel lucky or good 10 minutes later," she said.
Five to 15 is the most common age sufferers displayed symptoms.
But Megan noticed her balance and co-ordination had started to decline near the end of high school.
"I didn't think anything of it at the time, but as a year went by and it got progressively worse, I knew something was going on," she said.
An initial doctor's visit proved Megan was right to be concerned.
"(My doctor) made an urgent call to a neurologist.
"They booked me in to have a brain scan to check if I had a brain tumour, which I didn't."
Genetic testing confirmed Megan had FA, caused by a defect in the frataxin gene of DNA.
This resulted in the production of frataxin protein being reduced or absent altogether.
There is no cure for FA, but symptoms can be treated or their progression slowed with medication and physical problems, such as scoliosis, improved with corrective surgery.
For now, Megan has been advised by doctors to exercise regularly while able and has been prescribed daily medication to treat the symptoms, such as increased iron levels and heart problems.
FA patients, along with many others suffering from degenerative disorders, were also at risk of developing a mental disorder.
Megan has been taking anti-depressant medication since her diagnosis.
University of the Sunshine Coast psychology lecturer Rachael Sharman said mental health issues such as depression, anxiety and denial could result after the initial shock of diagnosis of a degenerative disorder.
Dr Sharman said for someone like Megan who was diagnosed later in life rather than from birth, the psychological effects were "another kettle of fish".
"You're looking at someone who's just starting out their adult life," she said.
"They've got a lot of hopes and dreams about careers and family.
"She's going to have to massively reassess a lot of that."
Megan realises her life will be different from others, and from what she expected, which included a career working with animals.
"It's a bit hard to accept that I won't have the life I wanted," she said.
Megan said her parents, older sister and younger brother had been similarly distraught at the diagnosis, but were major sources of support and research for her.
She hoped to continue her life normally for as long as possible.
"I hope I get cured," she said.
"That sounds funny because I don't feel sick."