Russell Stedman inhales just 10 per cent of the oxygen a healthy person does – because of a genetic condition he says thousands of people are unaware they have.
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Alpha-1 Antitrypsin Deficiency (Alpha-1) is passed on through genes and can result in serious lung and/or liver disease at any age.
The Shepparton man, who stopped in Wodonga on Friday during a tristate tour to raise awareness, said family history of liver disease or emphysema – without smoking – were signs people should get tested for Alpha-1.
“If diagnosed, treatment can stop progression of the disease and it as simple as a weekly top-up of the missing Alpha-1 Anitrypsin, which has been available in other countries for 30 years but not in Australia,” he said.
“There’s 4000 Australians right now who have severe Alpha-1 and don’t know it; they’ve never been tested or diagnosed and there’s 1200 Australians who need treatment right now, and those are moderate figures.
Mr Stedman said there had been treatment available in other countries for decades, which could slow the worst effects of the protein deficiency including irreversible damage to the lungs and liver.
Many young children who have the condition will require transplants before adulthood.
And although former prime minister Malcolm Turnbull promised to fast-track pharmaceuticals for people with rare diseases in 2016, it had not yet happened for people with Alpha-1.
“While the disease isn’t recognised in Australia it’s very difficult for companies to get new and novel treatment,” Mr Stedman said.
“Treatment has been approved by the FDA and can increase life expectancy.
“People have a right to be tested and get treatment.”
Mr Stedman said many people were unaware they were a carrier of the gene, and has come across many people whose loved ones died young from something like emphysema, who may have had Alpha-1.
“Seeing as though this hits a lot of parents in their 40s, and they end up not being able to go to work or support their families – it’s a huge devastation,” he said.
Mr Stedman will meet with the the chief adviser to federal health minister Greg Hunt in Canberra next week, in the hopes of fast-tracking an assessment by the Medical Services Advisory Committee.
