Nine-Year-Old Marley Is The Only One In The World With Her Condition

Marley was whisked away from her mother the minute she was born.

After a perfectly healthy pregnancy, she wasn't breathing.

"Marley had a condition called trachemalacia (a collapsed airway), she couldn't feed properly, she had jaundice," her mother Shantelle Tagg told ten daily.

"There were a lot of little things that accumulated."

It was a week of countless hospital visits that Shantelle, a first time mum from Sydney, remembers vividly.

"We were almost numb," she said. "We hadn't really prepared ourselves for anything like this. I remember looking at my husband and thinking, where do we go from here?"

Mother Shantelle and daughter Marley in 2018. Image: Supplied

Shantelle and her husband had a visit from a geneticist when Marley was just one week old. Two weeks later, she was diagnosed with what's called Trisomy chromosome 5q33 and Monosony chromosome 11q24.4.

It's an extremely rare genetic condition -- so rare in fact that she's the only person in the world to have it.

"There was no handbook... we had nowhere to look."

Marley's condition is caused by an unbalanced translocation -- or rearrangement -- of parts of two chromosomes. In simple terms, she is missing part of her Chromosome 11 and has an extra part of her Chromosome 5.

Such abnormalities happen when there is an error in cell division, which causes too few or too many copies of a chromosome.

"Because of the chromosomes that are affected and the breakpoints in those chromosomes, Marley's condition is totally different to anyone else in the world," Shantelle explained.

This was a frightening diagnosis for the new parents, who were left with two "vague" guidelines: that Google was not going to be their ally, and that their newborn child would not grow into a functioning adult.

'We were trying to keep her alive'

Marley, now nine years old, is significantly affected by her condition. She is non-verbal, has hearing impairment and vision problems and struggles to chew food.

Looking back, Shantelle said the early years were the toughest, when they were trying to keep their beloved daughter alive.

"She had a few surgeries early on, including open-heart surgery at six months," she said.

"We had to weigh her weekly and were in and out of hospital. She would turn blue when she was feeding and fall asleep because it was taking so much energy for her to feed that her heart couldn't cope."

Shantelle remembers standing outside on cold, winter nights taking off all of Marley's clothes to keep her awake.

"We were in survival mode," she said.

In time, caring for her daughter became a matter of "finding a problem and looking for a solution".

Marley uses a TAPit board to communicate. Image: Supplied
'I just got on with it'

After  a brief chat with Shantelle, you can feel her grit and optimism to make the "absolute best" life for Marley and her other two children, Kai, 7, and Clio, 5.

"I'm the type of person that just gets on with life. Marley was quite sick when she was first born, but then we just got on with it," she said.

With no specific treatments for Marley's condition, life became a series of visits to speech therapists, occupational therapists, physiotherapists and behavioural psychologists.

Sometimes, Shantelle and her husband would "look outside the box", which led them to the Steve Waugh Foundation, that raises awareness and funds for over 400,000 Australian children with rare diseases.

The foundation has funded a picture exchange communication system and a portable smartboard to help Marley communicate.

"Since we've had those devices added into her life, she has so much more control and is so much happier," Shantelle said.

Steve Waugh and other ambassadors, including Anna Meares and Adam Goodes, will in two weeks take part in an annual six-day cycle to raise important funds.

'I don't know what's coming'

Right now, Marley is in a great place. She's mobile, developing well and is now challenging herself with her eating.

"You have ups and downs of course, but the last six to eight months have been great for her," Shantelle said.

Shantelle, too, is endlessly proud of Kai and Clio, whom she had through IVF after finding out she was a carrier for Marley's condition.

"They are two of the most empathetic children I know," she said.

"They've coped with this beautifully. They don't see Marley as being different, because they have her and look after her every single day."

While it's safe to say Shantelle's life and work has dramatically changed its course -- she now runs an inclusive dance school for children with and without disabilities -- it's one she wouldn't give up.

But she chooses not to look too far ahead.

"As long as family is always there to look after her and give her opportunities to be the best version of herself, then I'm happy."