FOR the first time since both her children were diagnosed with Cystic Fibrosis (CF), Karen Hobson says she can finally imagine a future for them – thanks to the new drug, Kalydeco.
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It’s something Karen and her husband, Andrew, have never dared to do after a fateful week in August 2006 when their eldest, Myles and his little sister, Emily, tested positive for the genetic illness.
They were diagnosed within a week of each other; at the time Emily was three months old and Myles three-and-a-half.
It was not detected at birth because they have a very rare form of the disease, which was not tested for prior to 2008.
The Singleton couple soon learned there is no cure for the condition which causes a thick-build up mucus in the lungs, pancreas and other organs.
This build-up decreases pancreatic function making it hard for sufferers to put on any weight and, ultimately grow.
It also traps bacteria in the lungs, resulting in recurrent infections which lead to irreversible damage.
Lung failure is the major cause of death for someone with CF.
After years of intensively treating the symptoms, Myles’ condition took a turn for the worst in August.
Karen says the 12-year-old weighed 22.26 kilos despite eating 180g of fat per day then ingesting another 2000 calories per night via his PEG (feeding) tube.
“His lung function dropped to 47 per cent, which is well below the average of 82 per cent is was very concerning.”
“He was always pale and sickly; he had no energy and was continually taking antibiotics on top of his normal regime of medication along with this two physio treatments a day.”
Standing at just 131cm tall, Myles was just so much smaller than his peers, she explains.
Watching her son’s health deteriorate was heartbreaking but then came the news Myles was eligible to take part in the trial of a ground-breaking new drug, Kalydeco.
“We knew the drug was out there and had been watching the fight to get it listed on the PBS for two years now,” she says.
“It was a terribly frustrating process, knowing there was a way to help him but not being able to access it.
“So when I heard about the trials at Westmead in Sydney, I asked our paediatric team at John Hunter Hospital about it.
“Two days later they rang me and Myles was offered the last spot in the trial. He is number 20 of 20.
“It is the first drug that treats the underlying cause of the condition rather than the symptoms and costs about $400 per tablet,” Karen explains.
Medical experts consider Kalydeco to be the most important development in the treatment of the disease since the discovery of the cystic fibrosis gene in 1989.
It works by “turning off” the genetic defect that causes cystic fibrosis, allowing the body to break down and drain mucus in the lungs and digestive system.
Although only in the initial stages of the trial Myles’ health has improved dramatically.
“He started on September 16 and at the two-month mark his lung function had improved to 87 per cent, he grew 5cm and weighed 27.6kg.”
“So far Myles has made more progress in this time frame than we had anticipated he would in six months.”
He has not touched an antibiotic in three months, she confirms.
Myles says he actually feels hungry now and has lots of energy.
“The little boy we once use to have to force feed is up at 1.30 in the mornings looking for food,” the excited Mum interjected.
The quietly-spoken little lad says he is looking forward to putting on more weight so he can grow as tall as his friends and play more sport.
Myles’ progress is not the only good news for the family; now the drug has been approved his sister Emily will be able to start taking the medication early next year.
Karen describes the small blue pill as “life-saving” and as a development “they have always hoped and dreamed of.”