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3 March 2010
‘The hardest thing was not knowing if all this (combination of symptoms) was related, and if so, what was causing it. Why was all this happening to my child?’ Sharlene Dadd, mother of Marcus Dadd, diagnosed with Waardenburg syndrome.
When a child presents with many unexplained symptoms, the inability to immediately diagnose can be frustrating for all involved, including the family doctor.
Marcus Dadd, now aged 10, developed bowel problems and severe allergies just after he was born. His parents then discovered he was deaf. It seemed every week there was something else, another appointment to be made with a different specialist. There were years of unanswered questions for the family.
“We’d been to so many specialists: physiotherapists, gastroenterologists, audiologists, auditory verbal therapists, neurologists, the whole lot. We were just exhausted.
When Marcus was eventually diagnosed with Waardenburg syndrome, a rare genetic disease affecting the nervous system, his parents, although devastated, were relieved they were no longer searching for a name to the problem.
Through this, the Dadds learnt about the research at Children’s Medical Research Institute (CMRI) and they are now keen supporters of CMRI and its major fundraiser Jeans for Genes®.
“For us it is crucial to support an organisation that is going to stop people from going through what we have been through, to stop children like Marcus from going through what he’s been through, because it’s not fair for a child to have to deal with that kind of pain.”
Sadly the current statistics suggest there are many more like Marcus. In Australia, 1 child in 20 suffers from genetic disease, congenital abnormality or chronic illness.
This startling statistic is a motivating factor for Professor Roger Reddel, Director of CMRI. He understands the frustration faced by doctors and families when answers are not evident. After he studied medicine he practised as a medical oncologist, and has often faced the question 'There must be something you can do?'
To find new treatment options, Reddel went into medical research and has since made his mark internationally. Reddel and other leading scientists at CMRI have played a major role in research into cancer, epilepsy, gene therapy and embryonic development.
It can take many years for research to find the answers that patients, their families, and their medical advisors are looking for. However, it is this vital link - between research, the medical profession and the community - that gives everyone involved a sense that something IS being done.
The Dadds' family story was recently sent as a fundraising appeal to clinicians and benefactors of CMRI. For more information on the institute please visit http://www.cmri.org.au/
To make a donation to Children's Medical Research Institute, please click here.
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