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One In A Million

Written by Genevieve Worrell

Story by Melanie Jamieson

QUEENSLAND teenager Aaron Payne is ‘one in a million’ affected by a rare neurological disease, but his delightful nature and continual fighting spirit throughout his journey are so special and just as rare.

Up until eight years of age, Aaron was a perfectly healthy and energetic young boy growing up in country Queensland with his mum, dad and two older sisters.

However in 2006, with no warning at all, the Payne’s ‘normal’ family life was completely overturned.

An innocent game of tag in the backyard with his cousin and older sister, suffered a life-changing outcome; Aaron fell to the ground shaking.

The family was startled and took immediate emergency action, although mum Kathy said they had very little knowledge on seizures.

“We had never even seen a seizure before,” Kathy said.

A night in the Warwick Hospital was followed by transportation to Toowoomba Base Hospital for further testing.

Provided with medication and a neurological appointment, results confirmed childhood epilepsy with the prediction that Aaron would likely grow out of it. This was never as simple as hoped.

The following months saw Aaron’s right leg ‘flicking’ continually. Seizures increased in severity and number, and Aaron’s condition took a turn for the worse.

After countless appointments and visits to the Royal Children’s Hospital (RCH) in Brisbane, Aaron was diagnosed with a rare neurological disease known as Rasmussen’s Encephalitis (RE).

RE typically targets children aged five to 10, causing permanent damage to brain cells in one cerebral hemisphere. In Aaron’s case, the left hemisphere.

Patients suffer relentless seizures, loss of speech, paralysis on one side of the body and mental deterioration.

Aaron’s diagnosis was devastating for the family.

“John didn’t want to accept it and thought it would just go away, I immediately began researching it,” Kathy said.

Neurologist Dr Stephen Malone from the Brisbane RCH is thankful that RE is rare.

“Over the last 10 years, I have been aware of five children in Queensland with diagnosed or suspected RE,” Dr Malone said.

With no accepted medical treatment schedule for the disease, many children take a range of medications to help scale down seizures.

Aaron trialed alternative therapies, had numerous medication alterations, constant trips to Brisbane and Melbourne, and consultations with neurological researchers and centres in Australia and overseas.

MelanieDespite every attempt to hinder the disease, Aaron’s condition continued to deteriorate over the next six years.

Severe seizures required him to wear a protective helmet after vicious head injuries, and daily administration of an emergency drug midazolam, also known as a date-rape drug.

“Midazolam can cause slowing of the breathing rate, sedation, and after it is administered patients are usually brought to hospital for monitoring as they recover,” Dr Malone said.

With no independence and the right side of his body becoming weaker, the Payne family made the difficult decision of taking Aaron’s treatment to a surgical level.

In Sydney, Aaron underwent a radical surgical procedure to remove the entire left hemisphere of his brain, known as a hemispherectomy.

As very little is known about the cause of RE, hemispherectomy surgery is currently the only known ‘cure’ for the disease.

Carolyn Pinto of Melbourne, whose daughter Freya underwent hemispherectomy surgery for the disease at age 11, speaks from experience.

“A hemispherectomy is a cruel instrument to cure a disease like Rasmussen’s, but with more research hopefully more effective treatments are made available,” Carolyn said.

There is currently a major effort underway with the help of a number of research teams throughout the world to help unlock a cure for the disorder.

The RE Children’s Project, founded in 2010, supports scientific research towards finding the cause and eventual cure for RE.

The American organisation came about by the determination and self-funding of Seth Wohlberg, whose daughter Grace was diagnosed with the disease at age 10.

Since 2010, the organisation has funded leading edge research worldwide.

Progress in understanding the disease is leading researchers to believe that more effective treatments are potentially within reach.

For now however, a hemispherectomy performed on RE patients is still highly successful, with the rate of seizure freedom post-operation at 75% to 85%.

“Hemispherectomy surgery allows the brain’s healthy side to function as normally as possible without the constant bombardment of epileptic activity,” Dr Malone said.

Although, seizure freedom comes at a cost. Earlier days post-surgery for Aaron were a constant battle with reduced vision, weakness, walking with a limp and reduced communicative function.

“I knew I would have trouble, so I wasn’t worried and I thought it would get better,” Aaron said.

“But didn’t know I would say strange things like ‘orange’ all the time.”

Aaron developed thrombosis in his lung, suffered seizures and spiking temperatures, and spent 12 days in intensive care.

“During this time we were thinking that the surgery was the easy part of the whole experience,” Kathy said.

After a month in Sydney, Aaron was transferred to the Brisbane RCH for four weeks. He faced an intensive schedule of daily speech therapy, occupational therapy and physiotherapy, but demonstrated continual improvement.

“He was really coping well with the reduced ability to communicate, rarely getting frustrated and most of the time being able to get his message across,” Kathy said.

Early January this year, Aaron and Kathy became guests at the Herston Ronald McDonald House, allowing Aaron to continue daily therapy as an outpatient.

Six weeks of therapy and schooling within the hospital saw Aaron’s test results exceed expectations, with the scope for even further improvement.

Although Aaron’s journey is far from over, 31 October this year marks the 12 month anniversary since his surgery.

He has continued therapy through the local hospital, community pool and at home, has made a gradual return to school, and became drug free six months post-surgery.

Aaron looks forward to continuing his schooling, further developing his independence and relaxing now that he is seizure free.

A very determined and optimistic attitude is taking his journey onwards and upwards from here.

For more information, visit http://www.rechildrens.org/ or http://hemifoundation.homestead.com/rasmussen.html

Rare Disease Infographic

Rare Disease Infographic