Brave family inspire inclusion of spinal muscular atrophy into pilot newborn screening program

Katanning parents who lost their newborn baby to a rare and incurable disease have had their story heard on the floor of Parliament House and inspired changes to WA’s newborn bloodspot screening program. Health Minister Roger Cook announced last week spinal muscular atrophy would be added to WA’s newborn heel-prick test as a pilot program after hearing the story of Rachel and Michael Dark’s family from Roe MP Peter Rundle. Mrs Dark reached out to Mr Rundle after weeks of campaigning for spinal muscular atrophy to be added to WA’s screening test after the death of her daughter Rosie at only 51/2 months old. “Spinal muscular atrophy is a genetic condition which, if left untreated, will almost certainly lead to an early death for children under two,” Mr Rundle said in Parliament on Thursday. “Any time delay in diagnosis will mean the difference between the baby living with severe disabilities, succumbing to an early death, or leading a full and normal life. “In the most common form, the baby will die before their first birthday from a condition the parents probably did not know existed. “Rachel and Michael Dark, from my home town of Katanning, are these parents ... I welcome them here, knowing that for them this is incredibly difficult, but if we can do anything for the family, their daughter and for future parents, we will have achieved something to acknowledge their little girl. “They watched as Rosie struggled to breathe, lost movement of all her limbs and struggled with the fundamental basics of feeding and swallowing. Ultimately, her muscles became so weak, they could no longer support her breathing needs and she succumbed to SMA.” Mr Rundle explained to the Health Minister how a $10 test could have been life-changing for Rosie and her family. “If Rosie had been tested for SMA in the first few days of her life, she would have received a life-saving drug, which would have given her a much better life,” he said. Mr Cook announced the State Government would launch a pilot program for SMA screening which would lead to a final ruling on the testing by WA’s chief medical officer. “Over the coming months, the WA Department of Health will thoroughly assess the potential benefits, harms and resourcing requirements of adding SMA to the WA NBS program,” he said. “No doubt this comes down, in part, to the great advocacy of Rachel and Michael on behalf of Rosie, and we would like to congratulate you on this outcome.” Mr Cook said he would keep the bouquet gifted by the Dark family to “remind ourselves that we need to stay on top of this issue over the coming months”. Mrs Dark said the announcement gave her a sense of relief. “For us, it was pretty much the best outcome from what we were trying to do, but it was a bit bittersweet as it is a shame that this hadn’t already been in place,” she said. “In saying that ... I feel relief. “This is going to make a difference.”