Rosie’s legacy: Katanning mum’s mission to get spinal muscular atrophy added to WA’s newborn screening tests

A young Katanning mother is pushing for the State Government to extend genetic tests on newborn babies to save other families from suffering the same heartache they went through. Rachel, Michael and Tommy, 3, Dark had to say goodbye to their newborn baby, Rosie, in June, only five and a half months into her life. Rosie had been diagnosed with type 1 spinal muscular atrophy at seven weeks of age — a rare and incurable genetic condition which stops motor neurons communicating with muscles, leading to muscle wasting and loss of function. SMA affects an estimated one in 10,000 births, or about three children born in WA each year. Rosie’s mother, Rachel, said it did not have to be that way if the newborn blood-spot screening heel prick test had detected SMA in the first few days of her life. “The only treatment that is available on the Pharmaceutical Benefits Scheme in Australia at the moment, the only way it actually gives children any improved quality of life is if you administer it pre-symptomatically,” Mrs Dark said. “For children born with SMA type 1, like Rosie, this is virtually within the first few weeks of their life.” In NSW and ACT, newborn babies are screened for SMA as part of a pilot program. Based on the success of the pilot program, the Federal Health Department encourages States and Territories to implement the test. However, the NBS test administered in WA does not screen for SMA. The estimated cost of adding SMA to the NBS test is $10 per baby. Mrs Dark said it took a couple of weeks for her family to realise Rosie was suffering from neuron degeneration, but by then it was already too late. “We took her to the doctor and by then she had already lost virtually all of the movement in her legs and probably about 90 per cent of the movement in her arms,” she said. “By that stage the treatment wouldn’t have given her any more function than she had. “We were both shocked that we didn’t have much time with her in the end.” While there remains no cure for SMA, Federally approved drug Spinraza can slow the progression of the disease. Spinraza has been listed on the PBS for pre-symptomatic children and infants who have been diagnosed with severe SMA. In a bid to drive change, Mrs Dark has joined Mackenzie’s Mission author Rachael Casellar and two other women to help generate momentum at a State and Federal level. Ms Casellar successfully lobbied the NSW Health Department to fund a genetic screening program after she lost her daughter Mackenzie to SMA in 2018. In an open letter to Health Minister Roger Cook, Ms Dark has called on the State Government to add SMA to the list in WA. She believes there should be consistent screening across the country to give Australian families equal opportunity. “I believe that access to treatments for affected babies and children should not be subject to where they live or delayed,” Ms Dark wrote. Federal Member for O’Connor Rick Wilson has thrown his support behind the Dark family in a letter to Mr Cook in a bid to “prevent the tragedy endured by the Dark family being repeated”. “This is just a terribly sad situation and it happened to someone in my hometown, who knows my family,” he said. “For what appears to be a very small cost and with the support of the Commonwealth, I would urge the State Government to add SMA to the heel prick test. “I am really motivated to try and make something happen.” Roe MP Peter Rundle has also indicated his support for the Dark family and said he would be happy to liaise with Mr Cook and consider taking the issue to State Parliament. Ms Dark has called on the community to let the State Government know that change is needed. “No baby should suffer this cruel condition and no family should have to know such loss, especially knowing a $10 test could have saved them,” Ms Dark wrote. “Five-and-a-half months ago we had a new baby, and now we don’t. If we can save one family from going through this then it will mean that Rosie didn’t go through it for nothing. “Rosie’s life mattered — let’s do this for her.” The Department of Health and Mr Cook’s office were contacted for comment but did not respond before our deadline.

Rosie’s legacy: Katanning mum’s mission to get spinal muscular atrophy added to WA’s newborn screening tests

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