Enjoying a trip to Noosa’s Main Beach, Megan Perry, 20, of Gympie, is one of a handful of Australians diagnosed with rare genetic disorder Friedreich’s ataxia.
Enjoying a trip to Noosa’s Main Beach, Megan Perry, 20, of Gympie, is one of a handful of Australians diagnosed with rare genetic disorder Friedreich’s ataxia. Geoff Potter

Megan faces life with rare disorder

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 to 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.

FA research shows that five to 15 is the most common age sufferers display 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," she said.

"I knew something was going on."

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 has FA, caused by a defect in the frataxin gene of DNA.

This results 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 down with medication, and physical problems, such as scoliosis improved with corrective surgery.

Two FA clinics exist to support, diagnose and test FA patients - one in Melbourne and a second in Brisbane, which opened in 2010.

Organisations like the Friedreich Ataxia Research Association and the Friedreich's Ataxia Network research, raise funds and offer support to sufferers.

For FARA, which researches treatments and cures, the only form of funding comes from fundraising by the organisation.

However, FARA has been able to fund nine research projects in the past year, including research into stem cell technology to correct gene defects in FA patients.

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.

Currently, an antioxidant drug is being used to reduce effects in some FA patients.

The drug, Idebendone, forms part of the small concoction of drugs Megan takes daily, which may increase in the future if she contracts diabetes or heart problems, as some sufferers do.

FA patients, along with many others suffering from degenerative disorders, are 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 says mental health issues such as depression, anxiety and denial can result after the initial shock of diagnosis of a degenerative disorder.

Both sufferers and their families are at risk of psychological problems.

"It's a huge shock for people," she said.

"People will unfortunately respond in strange ways when they're shocked.

"They might go into denial. They might try to pretend the disorder is not as bad as it is."

Dr Sharman points out that for someone like Megan who was diagnosed later in life rather than from birth, the psychological effects are "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 hopes 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."

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