Archie waited 32 years to be diagnosed. His nephew waited two months
Dowell’s diagnosis allowed him to receive a stem cell transplant at St Vincent’s Hospital in 2021, replacing his immune system with his brother’s.
“If I hadn’t had the genetic test … I probably would have lost my colon and eventually relapsed into another cancer relapse,” he said. “I’ve gotten out of prison a couple of times, but this is really a fresh start.”
When Dowell’s sister, Caitlin, became pregnant, she knew her son Lawrence had a 50/50 chance of developing the syndrome, which almost always affects males.
Despite carrying the gene herself, she still had to jump through hoops to get a genetic test confirming his diagnosis.
“My obstetrician didn’t even have experience ordering this test… I had to make all the connections myself,” the Melbourne mother said. “I think a lot of people would have trouble standing up for themselves if they couldn’t get past those initial hurdles.”
The only cure for the rare disease is a stem cell transplant. A diagnosis early in life means Caitlin Dowell can more easily plan when Lawrence will be well enough to undergo treatment rather than doing it as a last resort.
The federal government agreed in June last year to screen all babies born in Australia for rare conditions, including a severe combined immunodeficiency disorder known as “bubble boy disease” because their immune systems do not adequately protect them from invading viruses and diseases can.
Carolyn Dews, executive director of the Immune Deficiencies Foundation Australia, said the diagnostic technology should be made available to older people with immune deficiencies, who have had to wait an average of nine years to be diagnosed.
“We’ve been able to work with the government to diagnose babies early, so we’re now looking at how we can use genomic testing to help people of all ages get a quick diagnosis of immunodeficiency,” she said.
A spokesman for Federal Health Secretary Mark Butler said the government is allocating $3.3 million to the National Strategic Action Plan on Rare Diseases, which “provides a blueprint for nationally coordinated efforts to address rare diseases, including primary immunodeficiency.”
Archie Dowell said that while Lawrence’s diagnosis was “quite devastating,” he was confident his nephew would avoid the health struggles he faced at a young age.
“He’s got quite a big fight ahead of him, but having that early diagnosis and support around him from day one gives me confidence he won’t have to go through a lot of the ordeal that I’ve had,” he said.
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