A 12-year-old girl born a healthy baby is just one of 120 people in the world and the only Australian to suffer from an extremely rare deadly condition.
Trisha Sawhney was diagnosed with Aspartyl Glucosaminuria (AGU) when she was five years old after her parents Vandana and Neeraj Sawhney found herself struggling to keep up with other children her age.
Symptoms of the genetic neurodegenerative disease usually appear from about two or three years of age and can be mistaken for autism.
‘Trisha was our first child, when she was born she was actually a normal child. All of her checks were fine, ”Mr Sawhney told Daily Mail Australia.
Trisha Sawhney was diagnosed with Aspartyl Glucosaminuria (AGU) when she was five years old. She was an otherwise ‘healthy’ baby
Trisha is pictured with her parents Vandana Sawhney and Neeraj Sawhney and their other daughter Samika
But the couple began to notice that something wasn’t quite right when Trisha was 15 months old – and her differences became even more apparent when she entered kindergarten.
Unlike other children her age, Trisha struggled to remember nursery rhymes and was unable to write her own name.
The parents went back and forth with their doctor, thinking that maybe Trisha was just “taking her own time.”
Their pediatrician then diagnosed Trisha with AGU and sent the family to children’s hospital, admitting they weren’t even aware of the condition.
‘Their [the children’s hospital’s] response was’ there was nothing we can do ‘,’ there is no cure in this world ‘,’ said Mr Sawhney. “We were devastated.”
Sawhney said his wife was unable to return to work after the birth of their second daughter Samika due to Trisha’s condition.
The Melbourne couple then embarked on their ‘long journey’, which was both financially and emotionally draining, in the years that followed seeking answers for their daughter.
Trisha’s parents were worried when she was in kindergarten and she struggled to remember nursery rhymes and couldn’t write her own name
They contacted researchers and spoke to families of other children who have the same condition as Trisha.
“It’s so extremely rare that there are only about 120 cases in the world,” Sawhney said.
“Most children around the world are not detected that early, most children are treated for autism for most of their lives.”
They suspect that Trisha is the only child in Australia with the disease.
The Sawhney family, along with eight other families from around the world, are now on a mission to raise money for a clinical trial – which could change Trisha’s life forever.
“We are very positive, the families that are currently involved in it, if we give these children a chance they can live a good life,” said Mr Sawhney.
They need $ 2 million to produce the necessary drugs for the clinical trial at a university hospital in the United States.
Trisha is suspected of being the only person in Australia with aspartyl glucosaminuria (AGU)
“The goal of this GoFundMe is to collectively raise the $ 2 million through other fundraising efforts,” the Australian fundraising page reads.
“We partner with eight families around the world, including GoFundMe campaigns in the US, Canada, Switzerland, Spain and France.
Additional fundraising will be required later to pay for hospital costs during the clinical studies. That could be another $ 2 million. ‘
The condition is caused by mutations in the AGA gene, which cause proteins to build up in the brain, disrupting cell functions.
Life expectancy is between 35 and 50 years.
‘When you look at her [Trisha] right now she’s a happy go lucky kid, ‘said Mr Sawhney.
Symptoms of the genetic neurodegenerative disease usually appear from about two or three years of age and can be mistaken for autism. Trisha is pictured
However, she continues to struggle intellectually. Trisha is now in year 7 but works at the level of a year 2 student.
She was placed in a special education school this year.
The 12-year-old has also developed scoliosis.
Mr. Sawhney said research on the condition was lacking due to limited funding.
“Big drugs don’t want to come forward because it’s not financially viable,” he said.
Trisha is the only known child in Australia. All the money we raise goes to the US. We are really alone in Australia. ‘
You can donate to help Trisha and her family here
‘When you look at her [Trisha] right now she’s a happy go lucky kid, ‘said Mr Sawhney