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One Mum's love is saving lives |
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Written by Administrator
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Thursday, 19 October 2006 |
Just over two years ago, an average of nine babies were born in
Queensland each year with an undiagnosed metabolic disorder. Because
samples had to be sent to NSW for screening, five of these children
would die and two would suffer permanent brain damage. But, through the
persistence of Maleny mother Rachael Sharman, two years ago the
Queensland Government introduced metabolic screening for newborns
throughout the state. Now at least eight little lives are saved each
year.
Through the persistence of Maleny mother Rachael Sharman, two years ago the Queensland Government introduced metabolic screening for newborns throughout the state. Now at least eight little lives are saved each year.
| Rachael Sharman with daughter Sarah Mackintosh ... We were lucky,” said Rachael, “but no-one should have their child’s life riding on luck when the technology exists to protect them.”
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In September 1997, Rachael and her husband Rob, then parents to 14 month old twins Sarah and Alex rushed their daughter to their GP. “She had vomited blood and appeared to be semi-conscious,” said Rachael. The GP immediately recommended hospitalisation on suspicion of severe food poisoning. “By the time we got to the hospital 45 minutes later, Sarah was fighting for her life.”
At the Mater, all Paediatric registrars and the Consultant had arrived to see Sarah, surgeons from the adult hospital had been consulted, x-rays had been taken, an ultrasound performed and blood products were being flown in.
Dr Frank Bowling, the Mater’s only metabolic consultant examined Sarah and suspected a metabolic disorder. Rachael remembers, “All the other attending Doctors, whilst extremely competent, were completely dumbfounded as to the cause of her problem. Hypotheses ranging from food poisoning to telescopic bowel were being discussed; and despite the input from consultant Paediatricians, it was clear that they had no clue as to what was wrong.”
When Sarah was stabilised, she was taken to intensive care, still in a coma. “Later that evening,” said Rachael, “Sarah was diagnosed with a rare metabolic disorder.” The Mater had never seen such a case and the only people in Queensland who ‘knew anything at all’ about the disorder were Dr Bowling and Dr Jim McGill.
“We now know that, had Dr Bowling not been available when Sarah was admitted to the emergency department, diagnosis would have taken days and she would have almost certainly suffered permanent brain damage.” Rachael’s experience with Sarah prompted her push for metabolic screening throughout Queensland. “I got together with Carolyn Male, MP for Glasshouse, a few years ago,” said Rachael, “And she organised a meeting with the Health Minister. Two months later, it was approved.”
Through the simple heel prick test at 72 hours, all Queensland babies are now screened for these disorders. Fortunately Sarah awoke from her coma two days later and doctors were surprised to find she had no brain damage. Sarah commenced a low protein diet and carnitine therapy at 14 months, “And guess what?” said Rachael. “No more problems sleeping overnight, no more panic attacks and our photo album started to fill with pictures of smiles and giggles.
“We were lucky,” said Rachael, “but no-one should have their child’s life riding on luck when the technology exists to protect them.”
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Last Updated ( Thursday, 19 October 2006 )
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Range News 2005 - ON 
