An Indian family in Perth, Western Australia is hoping to raise awareness of a rare genetic disease – mitochondrial disease as they ‘fight to keep their daughter alive every day’.
Preeti Raghwani and her husband Janesh Raghwani were devastated when their infant daughter, Ziya was diagnosed with the extremely rare and incurable genetic disease in October last year.
“My daughter was born deaf. When she was three months old, she had a really bad seizure. She was choking, she was shivering and we rushed her to the hospital,” Preeti tells SBS Hindi.
“We were shocked. It was like a horror movie.
“The seizure lasted for eight hours. The doctors had to put her in an induced coma to stabilise her. I often ruminate that had I not spotted it, I am afraid she would have not survived,” she said.
After a series of tests, the Raghwani family learnt their little girl Ziya had a rare and incurable genetic disease – mitochondrial disease.
Ziya has spent months in and out of hospital Source: Supplied
“It is so rare she's believed to be just one of 11 worldwide to suffer from it and the only child in Australia,” Preeti says.
The seizures have continued and the family has spent weeks at a go in the hospital.
“Even today she is not well and my bags are packed to go to the hospital,” she says.
Ziya may not live long. Doctors have told the Raghwani family that it is ‘not something that children can survive.’
Source: Supplied
“Her condition has been continuously deteriorating. She stabilises a little but then again there is a drop.
“Every day is a fight to keep her alive. But we want her life to be meaningful,” says Preeti who has now dedicated her life to raising awareness for Mitochondrial diseases and the potential preventative steps the government can take to help put a stop the condition.
“A lot of good research work is being done in Australia but it is under-appreciated. This condition can be eradicated from the root through mitochondrial donation and I would like to draw the Australian government’s attention to this,” she says.
'There is a breakthrough IVF technique called Mitochondrial donation which allows people with gene mutations like Ziya to have healthy children without this condition stopping the next generation from having it.
'We hope that Ziya's story helps inspire the government to act on this and legalise it as it has been done in the UK,” Preeti says.
The couple also has an elder daughter, Mahi, who they say has been a very resilient child.
Source: Supplied
"She doesn't know how severe the condition is but she knows mum might not be around as she has to be in the hospital. She has grown beyond her years," Preeti says.
Preeti wants Mitochondrial donation to be legalised in Australia so that Mahi has a chance to have a healthy baby.
