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One question parents ask paediatrician Ravi Savarirayan often meets with silence. “What can you do to help my child”?
“We had no answer for that,” says the energetic geneticist, who specialises in bone disorders. “I decided I’d like to spend my time trying to see if we could answer that question.”
This turning point came about five years ago. Ravi, who studied medicine at Adelaide University before specialising in paediatrics, moved his research towards trying to find treatments for genetic diseases.
One of those is achondroplasia, the most common type of dwarfism.
For a start, children with the genetic condition are seven to eight times more likely than other babies to die from Sudden Infant Death Syndrome (SIDS) in the first year of life. They also have spinal, leg and hip problems which can cause pain and will likely require surgery down the track.
New treatments are not just about correcting short stature but trying to avoid the need to undergo operations.
Ravi leads the Melbourne arm – the largest site worldwide – of an international trial testing a drug on the growth of children with achondroplasia.
The trial involves 20 children in Melbourne and 36 worldwide. Results to date are extremely encouraging, with the drug shown to be safe and effective.
“The first six months of treatment increases the growth of the kids by 50 per cent,” Ravi says. “They were growing at around four centimetres a year and now they are growing six centimetres a year – a 50 per cent increase.
“It’s been a wonderful story and now it looks like we are going to have funding to continue this trial for at least seven years of treatment because there are no serious side effects.”
Ravi likens the overactive gene responsible for achondroplasia to a tap that gets turned on and overwaters the plant, stopping its growth. The drug, injected under the skin, doesn’t turn the tap off, but puts a kink in the hose to allow normal bone growth to resume. The drug, which is injected under the skin, uses a natural human protein that stimulates bone growth.
“It’s about minimising and decreasing the medical complications of this condition with a targeted therapy, rather than making people with dwarfism taller,” he says.
The next phase of research will look at starting treatment earlier, at six months of age rather than four years.
If it continues to prove effective, hundreds of thousands of children around the world could benefit. There are 30,000 children in India alone with achondroplasia so Ravi is intent on ensuring it’s not just kids in places like Australia, the UK and Europe who benefit, but those in developing countries too.
It’s a cause close to Ravi’s heart. His parents, both doctors, migrated to Australia from South India and settled in the South Australian town of Whyalla, where Ravi grew up.
While his heritage meant he looked different to those around him growing up, it certainly hasn’t held Ravi back. He oozes charisma, positivity and enthusiasm. Now a father-of-four – an 18-year-old, 15-year-old and 11-year-old twin girls – he channels his energy not only into his work but into a charity he started with his wife and two friends.
The Yatra Foundation establishes schools in India to increase access to quality education for the most severely disadvantaged children.
“My attitude is that you can do a hell of a lot and it’s what we can do that scares us, not what we can’t do,” Ravi says.
Now he gets the response from parents he wants when they ask him what can be done for their sick child.
“It’s very exciting. They can’t believe it,” he says. “And that’s very empowering.”