Hidden in the genes
Two cystic fibrosis sufferers share their fight for life, and how to make a difference
AT 25 YEARS old, Renee Falconer was preparing herself and her loved ones for her death. She was sleeping on a ventilator, had to sit down while showering, and could not easily walk from one end of her house to the other.
“It was just a horrible situation. My mind was still active but I pride myself on being independent and to be in that situation was very demeaning for me,” Mrs Falconer said.
“It was no one’s fault but I just didn’t want to be in that situation.”
The cystic fibrosis sufferer’s lungs had been in rapid decline since she was 22.
Cystic fibrosis, or CF, is an illness that causes malfunctions in the exocrine system, which controls our body’s saliva, sweat, tears and mucus.
It affects the digestive system and the lungs, and the most common cause of death in sufferers is lung failure.
Mrs Falconer enjoyed a relatively healthy childhood but underwent a heavy and regular regimen of chest physio and medication.
Her parents moved from Brisbane to the Sunshine Coast when she was about 10, on the doctors’ advice that sea air and sea water would help ease the symptoms of her illness.
At about 18, as her friends with CF began to die, Mrs Falconer was also forced to assess how her illness would affect her own life. She knew she could not carry a child, even though motherhood was her fervent wish.
“Having kids was not something I could physically do. I have to be aware that my body just wouldn’t cope carrying a child,” Mrs Falconer, now 26, said.
“There’s nothing more that I would want than to be a mum.” She graduated high school, and then university with a Bachelor of Business and Tourism, and an Associate Diploma in Event Management, before marrying her boyfriend Adam in 2013.
The same year she was married, her lung health began to decline and she found herself bouncing in and out of hospital for about a year.
Her long-term plans went out the window and she began to prepare for her own death.
“I remember when we bought our first dog, I was aware that he would probably live longer than me,” Mrs Falconer said.
As her lungs continued to fail, at 24 and 25, she felt as if she was trapped in the body of an old person who could not even stand up to shower.
In December 2015, as her lung capacity dropped to 15%, Mrs Falconer received a transplant.
“I was ready for that transplant, definitely, because I knew if it didn’t work I was going to die quick and that was comforting for me,” she said.
“Because mum, dad, Adam ... I was just stressing them out and they were watching me disintegrate.”
The lung transplant was a success, and without infection or rejection at this stage.
“The lungs are happy,” Mrs Falconer said.
‘‘ I remember when we bought our first dog, I was aware that he would probably live longer than me.
“I’m starting to plan holidays again, and we got another dog because I know I’ll be around to take care of them.”
An average of one in 25 Australians carry the gene that causes this incurable disease.
The gene, which experts believe appeared in the human genome about 5000 years ago, occurs equally in men and women.
And most carriers of the gene have no idea of their situation because they display no symptoms.
According to the Cystic Fibrosis Australia website, in Australia one baby every four days is born with the illness.
Fellow CF sufferer Peter Oxford also was well as a child but, like Mrs Falconer, had to undergo a rigorous tablet-taking routine and chest physio to maintain that good health.
He remembers being traumatised at meal times and being singled out to take his medication at school. At age six he would sometimes find a bin and dump his tablets straight into it.
Mr Oxford was diagnosed with cystic fibrosis soon after his adoption, aged one, in 1971.
“My parents always told me it was a shock for the whole family at the time, and they remember thinking the child welfare people would make them return me to foster care. However they told me there were no refunds back in those days,” he joked.
“There was an endless amount of chest physio that my parents took shifts in doing, and making a three-year-old take tablets was a challenge on a daily basis.
“Every time I ate food I was forced to take up to 15 capsules. Eating was a scary time.”
Mr Oxford, now 46, has outlived the life expectancy of most sufferers of the illness. These days, that life expectancy is about 37 years old.
“If I was to go by the medical journals on the life expectancy of someone with CF I am now past my expiry date and would be seen as a vintage wine,” Mr Oxford said.
He has the support of his partner of nearly four years, Andre Sarzio, who he met on a flight to Berlin in July 2013.
Mr Oxford said he becomes tired if he misses his daily medication regimen, usually involving a nebuliser, that takes him up to an hour to complete.
“CF lives with me and needs to be worked into my busy schedule,” he said.
“Travelling a lot as I do can also be a challenge with time zone changes, and as most of my medication requires refrigeration I am always freaking out that I get to a hotel in time and keep the medication cool.”
From a young age, Mr Oxford has defied doctors’ expectations and lived a colourful life.
He founded Australia’s first national dance competition, Showcase Dance, has dominated the Australian dance competition scene and launched Australia’s first gay cruise, All Gay Cruises, which was a full ship charter of more than 1400 people, in 2007.
And in 2012, he created a documentary about a children’s orphanage in Saigon, Vietnam, to raise awareness and funds to support the 120 orphans.
He said having the disease had made him more determined. “I also don’t make a big deal about it to others as then it also becomes other people’s concern as well,” Mr Oxford said.
“When I have been unwell, it makes you think about what’s important in life and more determined to go do better and do more in life.
“However there were times I thought, ‘should I be signing that 20-year mortgage’?”
Mr Oxford said the medical system in Australia had to change so there were more hospital beds available for cystic fibrosis
sufferers, and medication also needed to be more affordable.
“I can pay up to $400 a month just for the basic CF medication,” he said.
“I work full-time and keep healthy so I am a lucky one that doesn’t end up always having to go to the emergency department just to get a bed.”
But Mr Oxford, like all of those with the illness, still needs to visit hospital for what he calls “tune-ups”.
“One time I was so desperate for treatment I ended up at a non CF hospital,” he said.
“The CF team (at Westmead Hospital in Sydney) are great and do such a great job, but are always hitting road blocks in being able to deliver much-needed treatments due to no beds.
“I have probably now opted to do my treatment at home over 60 times over the last 30 years as there are not enough beds.”
A New South Wales Health representative said hospitals and health networks provided daily care to people with cystic fibrosis. The NSW Government Agency for Clinical Innovation works with six cystic fibrosis specialist services across the state.
The representative said the agency delivers lifelong care through an expanded statewide service model.
“At the local level this has seen cystic fibrosis specialist services working within local health districts and networks to identify service delivery needs and priorities,” the representative said. “Telehealth for components of cystic fibrosis care is a priority within several local health districts and networks including Western Sydney Local Health District and the Sydney Children’s Hospitals network.”
The representative said the government had also increased the capacity of Hospital in the Home services to manage acute respiratory infections in cystic fibrosis patients, and that was being rolled out in Sydney and Western Sydney local health districts.
In the sunshine state, the Queensland Health Adult Cystic Fibrosis Centre at The Prince Charles Hospital in Brisbane provides health services to those with CF.
“ACFC staff work with respect, compassion and dedication to promote self-management, education and preventative care. They undertake extensive research activities involving clinical studies, basic laboratory studies and microbiological research,” a representative said.
Care is also delivered at the Mater Hospital Brisbane and the Gold Coast University Hospital, and the Prince Charles Hospital provides outreach services to North Queensland.
“Care for children with cystic fibrosis is delivered statewide by the Lady Cilento Children’s Hospital Cystic Fibrosis clinic, which also provides an extensive outreach service and uses telehealth as required,” the representative said.
Since 1986, all newborns in Australia have a heel prick test that screens for a number of diseases including cystic fibrosis.
The children’s illness is confirmed through a sweat test. Excess salt is another sign of the illness. Mr Oxford said living with CF was a daily struggle.
“We need to keep awareness out there as there is no cure. However with medication and a positive outlook someone like me can make a difference to the world in more ways than one,” he said. “Everyone wins.”
Mrs Falconer, too, has been busy since she received her transplant.
She has committed to volunteer with Donate Life, which promotes awareness of the importance of organ donation.
“I pride myself on making myself the best person I can be for my donor,” she said.
And the young woman remains humble despite her incredible story.
“In truth, it’s your natural instinct to want to live,” Mrs Falconer said.
“If you personally get faced with adversity you’ll do just the same as what I would.
“It’s your want to experience life, so you’ll take anything. Naturally, you’ll move mountains to be here.
“Put in the same position, everyone would do the same thing.”
◗ Renee Falconer with her mum, Deyarn Vitelli, at her university graduation in 2012 and, right, Mrs Falconer with her husband, Adam, on their wedding day in 2013.
Clockwise from top left, Peter Oxford receives treatment for cystic fibrosis while in Germany; Mr Oxford (right) with his partner Andre Sarzio who both support the National Cystic Fibrosis 65 Roses Campaign; and Oxford as a baby, soon after he was diagnosed with CF. LIVING LONGER: In 1959, the median age of survival of children with CF in the US was six months. In 2010, survival was estimated to be 37 for women and 40 for men.