When Johanna Kelly fell pregnant in 2017, she and her husband Cameron were living in New York – so they flew home to Australia to have their child here because they thought he would have access to better health care.
Instead, they watched him die.
Hunter was born a seemingly healthy and happy baby and the standard medical tests performed in a Melbourne hospital indicated as much.
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For three months, Hunter was perfect. But then his health quickly deteriorated.
“He was vomiting a lot,” Kelly said. “He started rapidly losing weight.”
Hunter was in the hospital for four weeks, with doctors unable to figure out what was wrong with him.
Normal tests didn’t pick anything up.
After four weeks, his lung collapsed.
Hunter then spent five weeks in the ICU, where they finally detected the problem.
He had severe combined immunodeficiency (SCID), meaning he was born with no B cells or T cells.
The most commonly known case is that of a little boy in the US nicknamed “bubble boy”.
SCID leaves those who have it with a severely compromised immune system.
Diagnosed too late
For the first three months of his life, Hunter benefitted from the passive immunity he’d gained from Kelly while in utero.
By the time he was diagnosed with SCID, he’d contracted other illnesses.
Many kids around the world are born with SCID, but are quickly diagnosed and given a bone marrow transplant.
With early detection, children born with SCID have a survival rate of 95 per cent.
Doctors performed a bone marrow transplant on Hunter using Kelly as a donor, but he died when he was five months old.
“The whole family was traumatised,” Kelly said.
“I lay in bed for a year.”
Eventually, she became “really, really angry”.
She picked up the research she had begun doing on SCID while Hunter was in the ICU, and was devastated to learn how easily treatable it was.
“Had he been born elsewhere, he’d be alive,” Kelly said.
Lagging behind
Australian newborn screening did not test for SCID when Hunter was born.
It was added to the tests in June of this year after Kelly spent four years lobbying the government and personally wrote the bill for it to be passed into legislation.
Had they stayed in America, it would have been performed as part of their standard newborn screening tests.
Four babies a year get SCID in Australia, but five babies are born a day with illnesses not detected in our newborn screening tests.
Kelly wants to change that.
She began campaigning for change and has so far met with the head of each state’s health department.
Newborn screening tests are handled by each state and territory.
An election promise
As part of their election campaign, the Labor Party promised to overhaul newborn screening tests nationwide.
The party promised to “make Australia’s Newborn Screening Programs world-class, saving lives, delivering better care and making the system fairer”.
Labor committed on multiple occasions to improve the screening tests, so they detect 80 conditions instead of the then-25 conditions, with $39 million set aside in the budget, over four years, to improve newborn screening tests.
At a recent Senate meeting, opposition health spokesperson Anne Ruston asked for an update on the program.
The department has been working with the states and territories on this election promise, Lisa Schofield from the Department of Health and Aged Care confirmed.
The government is currently working on standardising the conditions screened for across the country, she said, and has improved the number of conditions to about 30.
“The commitment was for 80,” Ruston said. “What’s the current timeline (for) the 80 conditions?”
“We are committed to considering the 80,” Schofield responded. “We will absolutely have a look at all (the conditions).”
“We’re on track, we’re doing the best that we can,” Labor Senator Malarndirri McCarthy said.
Need for urgency
Kelly doesn’t understand the lack of urgency or commitment in the roll-out.
“Five babies a day could have a critical diagnosis made that they wouldn’t have before,” she said.
It costs $10 per newborn to add the extra conditions to the screening process, she said, but this is far more cost-effective than the average $4375 cost per bed per day in the ICU.
“Not discounting the associated costs of trauma inflicted on staff, friends and family of these sick and dying babies, and that most will stay there much longer than one day,” Kelly said.
By the time Australia has caught up, she said, other countries will have moved forward even more.
More than anything, Kelly doesn’t want families to go through the same thing she and her husband did.
“The trauma that I went through is unfathomable,” she said.
“I’ve lost everything. My whole life has changed.
“I watched my baby dying.”
Kelly has complex post-traumatic stress disorder and has gone to weekly therapy for five years.
There’s no money or support for bereaved mothers, she said.
The government could prevent trauma to five families a day, and to delay that is “preposterous”.
‘Can’t save your baby’
Kelly and her husband “thought as a family it was safer and better” to trust Australia’s health system.
It’s “unfathomable” that the babies born today are getting the same screening tests that their parents received.
If she spoke to another parent considering moving back to Australia, her advice would be simple: “Don’t leave America.”
“We can’t save your baby here. I wish we never left.”
‘Early detection saves lives’
Kelly and her husband’s second son was born in 2020, and luckily they knew to ask for SCID screening.
He tested positive.
He’s now well into the terrible twos, making a ruckus in the background of her phone calls that she’s all too happy to deal with.
“He had the transplant,” Kelly said. “He’s happy and healthy.”
“He’s living proof that early detection saves lives.”
A petition is currently taking signatures, open until midnight on June 8, urging the government to honour its election promise.
Butler responds
The government is “absolutely committed” to expanding Australia’s newborn screening tests, Federal Health Minister Mark Butler told 7NEWS.com.au.
The first step was to “ensure that states have a nationally consistent approach” before increasing the number of conditions screened for.
“We are a significant step closer to this goal,” Butler said.
He recently offered a formal funding arrangement to states and territories for screening, he said.
“This is the first time the Australian Government has directly funded states and territories to support these important programs.
“We are committed to delivering an ongoing process to identify and assess conditions, informed by consultation, that is timely and fit-for purpose.”
Not good enough
This is nowhere near good enough, Kelly said.
“Putting each disease through a single five-year assessment process was not the commitment,” she said.
“At that rate, it will take another 250 years to screen for 80 diseases. That’s too many lives lost.”
Australia needs a one-off review to confirm the 80 diseases and list them, Kelly said, as was promised.
“These 80 tests are available globally and have been used elsewhere for decades,” she said.
“The evidence of their efficacy and assessment is publicly available right now.
“There is no excuse. Delayed process is delayed diagnosis leading to the loss of countless little lives.”
Wasting time
The government is simply wasting time, Kelly said, despite having slammed their predecessors for the same delays.
The conversation moving away from 80 diseases added to the screening tests shows “the government is walking away from his election commitment”, she said.
A commitment Kelly said was made “to my family and all the families that relive the nightmare of losing their child to a diagnosable and treatable disease in the hope other families never have to”.
“He promised 80 in a ‘reasonable time’,” Kelly said.
“Given globally this is a commonly used test by millions daily, that exists, and has zero negative impacts, it can and should be implemented within the year as budgeted, scheduled and promised for.”
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