Aspartylglucosaminuria: Australian girl's battle with one of the world's rarest diseases

Trisha is the only known child in Australia with an ultra-rare, fatal disease called Aspartylglucosaminuria. Photo / Supplied

Trisha Sawhney was born a healthy baby girl and began her life any normal child growing up in Australia would, but when she started going to kindy her parents noticed something wasn't quite right.

Her dad Neeraj Sawhney told news.com.au he and his wife Vandana noticed their daughter was late to hit her milestones around 15 months.

She could barely walk at that age, but the family from Melbourne were reassured when she learnt to walk without any support a few months later.

"She was our first child, she was just a happy-go-lucky girl and it wasn't until she went to kindergarten that we realised she wasn't at the same level as the other children," he said.

"They wanted the kids to check in and write her name each day, but she just couldn't do it. She couldn't recite nursery rhymes and she just wasn't as active as the other kids."

Her parents didn't know it yet, but Trisha was beginning to show signs of one of the rarest diseases in the world, a genetic neurodegenerative disease that begins to show when children are two or three years of age.

The fatal condition called Aspartylglucosaminuria (AGU) is so rare that Trisha is the only child in Australia to have it. Only around 120 people have it worldwide, the majority of them in Finland, and it is often initially misdiagnosed as autism.

Only around 120 people worldwide have AGU. Photo / Supplied

When Trish's parents first took her to the doctor, everything appeared to be normal, but a year passed and they realised that whatever was happening to her was worsening.

"She wasn't talking to anyone and we just thought she was really shy," Sawhney said.

On the playground, she was clumsy and never attempted to take on the equipment like the jungle gym or the climbing walls.

When Trisha was aged five, her parents decided to take her to a paediatrician, and she was given a urine test that finally picked up AGU — a disease that even the doctor had never heard of.

They made the heartbreaking discovery that the disease would slowly chip away at her mental and physical functioning — meaning her life expectancy would drastically shorten.

"She got the gene mutation from me and my wife, and it means that proteins accumulate in her brain, the cells will die and it will lead to early death – anywhere between 35-50 years of age," Sawhney said.

"The doctor told us there was no cure. We were just devastated."

Trisha has been in and out of hospital since the age of five. Photo / Supplied

Trisha is now a 12-year-old girl who loves TikTok, cooking and dancing, but she has also spent the last seven years in and out of hospital.

She now has severe learning difficulties and still finds it difficult to improve her basic reading and writing skills. She is only able to give one word answers to her peers and teachers.

She needs support with daily activities such as dressing up, washing, and keeping safe. She also needs support in public areas and needs to be reminded of the basic hazards around her.

Due to an underlying disorder, Trisha has also developed scoliosis — sideways curvature of the spine — and has had surgery for knock knees, making physical movement even more difficult for the 12-year-old.

"She can't jump or take big steps, and she moves up and down the stairs like and 80-year-old lady because of her weak muscles," Sawhney said.

"It is heartbreaking to see Trisha not able to read, write and play in the same that her younger sister does. There are just so many unknowns about how her future will look with this disease — she may not even be able to swallow by the time she's in her 20s."

After being told there was no cure, Neeraj and his wife have been looking at clinical trials for a new type of gene replacement therapy in the US that could potentially save Trisha's life.

If successful, the treatment — consisting of a single injection — could clear up the accumulation of proteins in her brain and bring back the connections that had been stifled by the disease.

But due to the complexity, extreme rareness and limited data on AGU, it's almost impossible for the family to attract the necessary interest and funding from big investors and medical research organisations to get a place on one of these trials.

Now they are trying to crowdsource the money so that Trisha can participate in a clinical trial to be carried out at a university hospital in the US early next year.

"The theory is that around six to nine months later, she could have full recovery and be back to normal," Sawhney said. "She would have to start learning again from scratch, back from grade two where she was stuck with her learning."

He said he and his wife were "being positive" about the treatment because it was the only option they had to see their daughter grow into adulthood and enjoy a normal life.

"It's killing us doing full time work, looking after a two children, one with special needs and working full time, but in reality there are only two options — sit and do nothing, or see if this works," he said.

"Even if she makes some sort of improvement we will be happy."

After reaching out online, the Sawhneys have joined forces with eight families around the globe, from the US, Canada, Switzerland, Spain, and France, to raise the $US2 million ($2.61 million) needed for the groundbreaking clinical trial that could potentially cure the disease.

If you would like to donate to help secure a spot on the trial for Trisha, you can donate online on the family's GoFundMe page.