Hid­den in the genes

Two cys­tic fi­bro­sis suf­fer­ers share their fight for life, and how to make a dif­fer­ence

Central and North Burnett Times - - READ - BY Letea Ca­van­der

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.”

PHO­TOS: CON­TRIB­UTED

◗ 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.

PHO­TOS: CON­TRIB­UTED

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.

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