Indian-origin girl with ultra-rare fatal disease waiting for treatment – About Your Online Magazine


At the age of 5, Trisha was diagnosed with the disease known as Aspartylglucosaminuria (AGU)

At the age of 5, Trisha was diagnosed with the disease known as Aspartylglucosaminuria (AGU)

Melbourne [Australia]April 8 (ANI): Twelve years ago, life was going well for Neeraj Sawhney of Indian origin and his wife Vandana in Australia, they were blessed with their first child, a girl. They called her Trisha.

A few years later, they realized that Trisha was different from other children her age and a little slow.

Her parents didn’t know it yet, but Trisha was beginning to show signs of one of the world’s rarest diseases, a genetic neurodegenerative disease that begins to appear when children are two or three years old, Australian news.com.au reported.

“She was our first daughter, she was just a carefree girl and it was only when she went to kindergarten that we realized that she was not on the same level as the other children,” said Neeraj.

“They wanted the children to register and write their name every day, but she just couldn’t do it. She couldn’t recite children’s songs and just wasn’t as active as the other kids,” he added.

At the age of 5, Trisha, now 12, was diagnosed with the condition known as Aspartylglucosaminuria (AGU), so rare that she is the only one in Australia to have it. His parents suffered a devastating blow when they were told that the disease had no cure.

Only about 120 people have it worldwide, most of them in Finland, and it is often initially diagnosed as autism, according to Australian news.com.au.

AGU is a hereditary disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint problems. The disease is caused by a defect in an enzyme known as aspartyl glucosaminidase.

“She took the genetic mutation from me and my wife, and that means that proteins accumulate in your brain, the cells will die and that will lead to early death – anywhere between 35-50 years of age,” said Neeraj Sawhney .

“The doctor told us that there was no cure. We were simply devastated,” he said.

After being told there was no cure, Neeraj and his wife have been looking for clinical tests for a new type of gene replacement therapy in the United States that could save Trisha’s life.

If successful, the treatment – which consists of a single injection – can clear the protein buildup in your brain and bring back the connections that have been stifled by the disease.

“The theory is that about six to nine months later, she could make a full recovery and return to normal,” said Sawhney. “She would have to start learning again from scratch, returning from second grade, where she was stuck in her apprenticeship.”

Sawhney said he and his wife were “being positive” about the treatment because it was the only option they had to see their daughter grow up to adulthood and lead a normal life.

“It is killing us to work full time, take care of two children, one with special needs and work full time, but in reality, there are only two options – sit and do nothing or see if it works,” he said.

“Even if it improves, we will be happy,” he added.

Hoping to receive treatment for their daughter, the Sawhneys joined forces with eight families around the world, from the United States, Canada, Switzerland, Spain and France, to raise the $ 2 million needed for the innovative clinical trial that could potentially cure the disease.

According to news.com.au, people can donate to help the couple secure a spot on the Trisha on Go Fund Me test. (ANI)

Paula Fonseca