Tori Punch has an extremely rare genetic condition called Proteus syndrome, which causes the overgrowth of her bones, tissues and organs.

The 15-year-old's legs grow out of proportion to her body and bow so severely she has been unable to walk since she was about 18 months old and had just begun to take her first steps.

Space to play or pause, M to mute, left and right arrows to seek, up and down arrows for volume. Listen Duration: 7 minutes 29 seconds 7 m Tori Punch lives with Proteus syndrome ( ABC Wide Bay: Brad Marsellos ) Download 3.4 MB

Tori's skull is misshapen and the growths impact on her eyes. She has had multiple operations.

But it is the growth of her neck bones, which are affecting Tori's breathing, that is of the greatest concern to her parents.

"Tori's neck bones are four times the size they should be," mother Wendy Punch, of Bundaberg North, said.

"This is restricting her airways. Her airways are showing up as the size of a baby's.

"When she is sleeping, the slightest noise and her dad and I are up just in case something does happen."

A new bed would elevate Tori and allow her to breathe more easily when she sleeps. ( ABC Wide Bay: Brad Marsellos )

Doctors are closely monitoring Tori to decide if she needs a machine to assist her breathing while she sleeps.

Proteus syndrome is extremely rare, with only a few hundred cases documented worldwide.

The genetic change that causes the syndrome is not inherited from parents, but occurs randomly in one cell in the early stages of development before birth.

Symptoms become apparent in infants between the ages six to 18 months, and the overgrowth becomes more severe with age.

Tori Punch and her mother Wendy Punch. Tori's current obsession is colourful pony toys. ( ABC Wide Bay: Brad Marsellos )

Hopes for medical trial

There is currently no medication to slow the growth available in Australia, but Ms Punch has heard positive results from a trial medication overseas and is hoping it becomes available here.

"We've been asked if they can get it here if we would put Tori on it and try it," she said.

"I've heard that some of the kids that are on it over there, it is starting to help them.

"If we can get it over here, there might be a chance it can help Tori."

Tori's family plans to do everything possible to provide a good life for her. ( ABC Wide Bay: Brad Marsellos )

New bed could help Tori

Keeping Tori comfortable, especially when she is sleeping, is the main concern for Ms Punch and her family.

They are hoping to acquire a hospital-style bed to elevate and assist with Tori's breathing while resting.

An online campaign has been started to raise the $6,000 needed for the new bed.

"Absolutely everything is wonderful about Tori, she's our world," she said.

"It's been hard, but we're fighters and we will sit here and fight.

"We just want to give Tori the best life we can."