Improved quality of life will be more attainable for people who suffer from a rare and genetic condition.
From November 1, the federal government kicked off funding new treatment for Fabry disease, a move that will also save patients a small fortune.
Galafold (migalastat) has been listed on the Life Saving Drugs Program (LSDP), which provides free access to highly specialised medicines.
The oral medication is the first new therapy to be approved in Australia for treatment of the disease in more than 12 years. Previously, the standard of care for most patients was enzyme replacement therapy.
People with Fabry disease have an enzyme deficiency, meaning their bodies cannot break down fatty substances. It is potentially life-threatening because a build up can lead to organ failure.
Symptoms usually present in childhood, and include rashes, headaches, fatigue, vertigo, fever and vomiting and diarrhea.
Galafold is the 14th drug to be added to the program, which has been supported through a $128 million investment in 2017-18. Without the subsidy, it can cost $444,600 a year.
Medicines funded through the LSDP include high cost drugs that do not meet the criteria to be funded on the Pharmaceutical Benefits Scheme.
The oral tablet, which is now subsidised for patients 16 years and older, works by stabilising the body's own dysfunctional enzyme.
Menai’s Lea Chant, 55, has been receiving the treatment through a clinical trial for the past seven years.
Towards the end of her first pregnancy in 1996, she had high blood pressure, which persisted after giving birth to her son Christopher. At the time, she was 32 and eager to have another child, so she had a kidney biopsy, which led to the diagnosis. Christopher was also diagnosed with Fabry disease, at 10 months of age.
Tingling fingers and toes, heat intolerance and gastrointestinal problems worsened for Mrs Chant, and she began experiencing poor kidney function and chronic urinary tract infections.
“As a TAFE teacher, it was a challenge because I couldn’t leave class,” Mrs Chant said.
“I was the first one in my family to get it, then I was told my son wouldn’t make it to 30, which was very distressing as a new mum. I was advised not to have more children, but I had a daughter, who doesn’t have Fabry disease.”
Her son Christopher, now 23, is undergoing testing to determine which treatment suits him.
“Knowing a diagnosis is half the battle,” Mrs Chant said. “There’s no cure but the medication improves quality of life.”