The decision to include a drug called ORKAMBI into the government’s Pharmaceutical Benefits Scheme may not mean much to some, but to one Byford family it means the world.
ORKAMBI can be used by infants aged two to five years old who have two copies of the F508del cystic fibrosis gene mutation.
It can improve the quality of life of infants living each day with the genetic condition and can make everything from basic digestion to regular attendance at school possible for those affected.
For Tianna Deliu’s 18-month-old daughter Willow, access to the drug via the Pharmaceutical Benefits Scheme has given the young family a new kind of hope.
“It was previously listed as costing $250,000 per year and this was in no way achievable,” she said.
“Willow is unable to attend day care so we are already experiencing financial hardship with me staying home with her.
“It would have destroyed us knowing there was a treatment out there and that we just couldn’t afford it for our daughter.”
Willow was diagnosed with cystic fibrosis at just two weeks old after doctors conducted the Guthrie test, a routine neo-natal blood screening test.
Her daily treatment includes 15 minutes of physiotherapy twice daily, the consumption of vitamins A, B, C, D, E and K and probiotics and antibiotics twice daily, just to name a few preventative measures.
But many would have little to no idea that Willow lives every day with a life-limiting genetic condition.
“Willow is a happy, very independent toddler with an unbelievable attitude,” Miss Deliu said.
“She can walk, talk, climb and do everything that other children can do with the exception of staying away from stagnant waters, germy places including day cares and play centres and muddy areas.”
For Willow and many other infants facing life with cystic fibrosis, last week’s decision to approve the world-class medical treatment is a massive weight lifted off their shoulders.
“Having access to ORKAMBI has given Willow the best chance at fighting cystic fibrosis and will allow her to have the best quality of life that she can possibly have,” Miss Deliu said.
“It has also bought us more time with her to watch her grow and hopefully have her own family one day.
“We still hope and pray for a cure every day but ORKAMBI is definitely a great starting point for us.”
