Little Noah's recovery a world first

By Angela Thompson
Updated November 5 2012 - 6:04pm, first published August 6 2008 - 11:42am
Noah Southall with mum Rosslyn. Picture: ANDY ZAKELI
Noah Southall with mum Rosslyn. Picture: ANDY ZAKELI

Ask Noah Southall what he wants to be when he grows up and he may reply, depending on what he's most recently seen on television, "a Gladiator". He's too young to know it, but Koonawarra's most endearing seven-year-old was born a fighter.Now he's a world-first medical miracle.Noah (pictured with mum Rosslyn) was diagnosed with the rare condition Proteus syndrome 12 months after he was born.A mutation in the gene responsible for halting cell growth allowed several kilograms worth of large, slow-growing tumours to invade his tiny body, crushing his lungs, abdomen and effectively dislocating his hip."He was on pain management four times a day," Mrs Southall said."The pain was unbearable and at that stage he couldn't crawl and the tumours were growing. It was pretty doom and gloom and not knowing what the future held was pretty devastating." Before Noah turned two, doctors told the Southalls to take him home and make him comfortable. He wasn't expected to live another year. But at the same time, something incredible was taking shape in the minds of medical and scientific teams from Sydney Children's Hospital, at Randwick, and the Kolling Institute of Medical Research at the Royal North Shore Hospital. In a world first, the teams proposed treating the tumour growth with Rapamycin, a drug that had been used in the past to prevent graft rejection in kidney transplants but had only recently been recognised as a powerful inhibitor of the unrestricted growth in cancer cells.Within three months Noah showed dramatic improvement in his breathing and nutrition.He came off the painkillers.Five years on, the weight of the tumours is all but gone."(Doctors) were just amazed," Mrs Southall said. "Every time they saw us they thought that would be the last time and we just kept coming back." A tumour that had pushed Noah's hip out of place was reduced dramatically by the drug, allowing him to stand - run even - and delighting his treating doctor, director of the Sydney Children's Hospital cancer centre Professor Glenn Marshall."To see this young man now running into my clinic is amazing," Prof Marshall said. "It's a tremendously satisfying thing to see him as well as he can be now when at the age of one he was expected to die from his tumour syndrome. Prof Marshall said Noah's case offered proof that therapy to restore the missing growth inhibitory gene could work in people, not just in the lab.The results also prompted hope the drug, or similar agents, could be used to control benign tumour syndromes in other patients in the future. Doctors remain concerned at the damage the tumours have caused to Noah's muscles and skeleton and some days he cannot walk easily.But he has taken up life's latest challenge - Year 1 at Dapto Public School - and to the delights offered outside the hospital walls."He likes the trampoline and he likes to kick the ball around - he'll always have a go," Mrs Southall said."He's been through so many tests, hospital visits and he still comes out with a smile on his face."He's an inspiration."

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