New oral medicine for patients with the rare condition Fabry disease announced.
FEDERAL Health Minister Greg Hunt has announced a new oral medicine for patients with the ultra-rare condition Fabry disease.
Fabry disease is a rare, genetic and potentially lifethreatening disease in which people are missing or do not have enough of a specific enzyme responsible for breaking down fatty substances.
The build-up can affect key organs such as the kidneys and heart, potentially leading to multi-organ failure including kidney failure, heart attack and stroke.
Halls Head’s Tania McDonald has been receiving treatment through a clinical trial for seven years.
The 57-year-old was diagnosed with Fabry disease at 32, just after her daughter Cara, now 37, was diagnosed.
Cara was just 12 years old when she developed symptoms and, thanks to the only doctor in WA who knew of the disease, she was diagnosed, as was her mother soon after.
Since childhood, Mrs McDonald experienced burning sensations in her hands and feet and had always felt there was something wrong.
But as time passed her symptoms worsened, involving problems with her kidney and heart, intense pain, burning sensations, and an inability to sweat, although she also experienced excessive sweating from her head.
In 2011, Mrs McDonald heard about a clinical trial for a new oral treatment for Fabry disease and was determined to be part of the trial and make her daughter’s life simpler.
At the time, Cara could not take part but Mrs McDonald was accepted, travelling to Adelaide nine times in the first year for blood tests, kidney biopsies and ongoing monitoring.
Mrs McDonald said Fabry disease could be isolating.
“Everyone says you look so well and they can’t believe there is anything wrong with me,’’ she said.
Her husband Donald also acts as her carer.
“He’s my rock, he’s amazing,” she said.
“I don’t know how anyone could do it without a partner.”
Tania McDonald and granddaughter Luna.