Trisha Sawhney from Melbourne is one of only 120 people diagnosed with Aspartylglucosaminuria (AGU) worldwide. Her parents are fundraising for a clinical trial in the US that could produce a cure for this rare neurodegenerative disorder and save their daughter's life.
When Melbourne couple Vandana and Neeraj Sawhney welcomed their first child in November 2008, they named her Trisha, which means 'A wish, a desire'.
She was a healthy baby girl who was a little late in hitting developmental milestones.
- 12-year-old Trisha Sawhney from Melbourne is the only Australian diagnosed with the ultra-rare disorder called Aspartylglucosaminuria (AGU)
- There are only 120 known cases of AGU across the world
- Her parents are fundraising money for clinical trials in the US that can save their daughter's life
By the time Trisha was three years old, the Sawhneys noticed she was also late in talking.
But doctors didn't find it too problematic and put it down to certain learning and development delays.
It was in 2014 that her symptoms became more apparent, and the parents' concerns grew more serious. When five-year-old Trisha went to school, significant gaps started appearing between her development and that of other children.
"We noticed that she was a bit slower than the other kids, and she was not able to retain whatever she was taught," Ms Vandana Sawhney told SBS Punjabi.
Cognitive and speech delays led the parents to visit a number of hospitals, and doctors started treating Trisha for autism. After many tests to determine the diagnosis, doctors finally found the answer in a urine test.
Ms Sawhney recalled the day when she received a telephone call informing her that her daughter had been diagnosed with a rare neurodegenerative disease named AGU or Aspartylglucosaminuria.
'That one call shattered our lives'
She scoured the internet for a ray of hope but was continually met with the same crushing answer: "genetic disorder with no cure".
"We were shocked to find that Trisha was the only known Australian who suffered from this life-threatening disease," Mr Neeraj Sawhney said.
"The most frightening part of it is watching your child deteriorate over time."
"Till now, there are only 120 known cases of AGU across the world," Mr Sawhney said.
AGU is caused by a deficiency in the AGA enzyme which leads to extensive cellular dysfunction affecting multiple organ systems, including the brain, which is most debilitating.
In most cases, life expectancy is 35-50 years.
"This is a gene mutation disease that no government or agency will tackle commercially because there aren't enough kids who will be treated, and there is no profit involved," Mr Sawhney said.
Now 12, Trisha is sailing through her own emotional journey.
"She can feel that something is wrong with her when she has trouble doing tasks that her 10-year-old sister, Samika, does effortlessly," her mother said.
"Lively and happy, Trisha loves dancing, cooking and TikTok."
Due to her increasingly weak muscles and bones, Trisha recently underwent spinal surgery and has developed scoliosis this year.
"I left my career to care for Trisha, and we are a single income family," Ms Sawhney said.
After years of research, the Sawhneys came across the Rare Trait Hope Fund.
The organisation is raising funds for clinical trials in the US of a new type of gene replacement therapy that could potentially cure the disease.
The mutated genes that cause the disease will be replaced with genes that stimulate the cells to repair themselves during treatment.
They said this link-up made them feel they were not alone, and they have since connected with other families affected by AGU.
"Eight families from Canada, Switzerland, the US, Spain and France, as well as us in Australia, are crowdsourcing the money to cure these AGU kids.
"To reach the masses, we started connecting with Punjabi YouTubers and social media influencers around the world," Ms Sawhney said.
The Sawhneys said they have been amazed by the power of social media. Their cry for help reached Sikh philanthropist Ravi Singh of Khalsa Aid, who shared the cause twice on his Facebook page.
Recently, Punjabi actress Neeru Bajwa voiced her support for Trisha's fundraising drive with a social media post that's been reshared by Punjabi celebrities like Satinder Sartaj, Sidhu Moosewala, Sonam Bajwa, Nimrat Khaira, Rana Ranbir, Amrit Mann and many more.
"I am positive now that if given a chance, these kids can also get a normal life"
These Indian Australian parents are crowdsourcing for a clinical trial expected to begin mid-2022 in the US.
Aiming to raise $1 million for the drug to save their daughter's life and the lives of other children, they have so far raised $259,445 of their total goal.
"We have lived Trisha's experience together over the years, and it has been a long emotional journey to arrive where we are today, but we are not giving up," Mr Sawhney said.
Trisha's father said that around 80 per cent of the money donated so far has come from the big-hearted Punjabi community across the world, for which he is highly obliged.
Click on the player at the top of the page to listen to the Punjabi interview with Trisha's parents: Vandana and Neeraj Sawhney
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