When Tori Punch was born, nothing foreshadowed trouble, but soon doctors diagnosed her with a terrible diagnosis - Proteus syndrome. This means that certain parts of her body are enlarged and the disease will progress with age.
Many probably remember the famous Joseph Merrick, better known as the Elephant Man, he had Proteus syndrome complicated by type 1 neurofibromatosis.
Proteus syndrome is a very rare congenital disease characterized by excessively rapid and atypical growth of bone and skin. It is often accompanied by tumors of certain parts of the body.
Now Tory Punch is 19 years old, she lives with her mother in the Australian city of Bundaberg and from childhood can only move in a wheelchair.
Proteus Syndrome made Tori's skull elongated, swelling and bumps on her legs, and twisted legs. Because of the bumps on her feet, Tori can't even wear shoes. In addition, she has mental retardation, now at nineteen her intelligence is at the level of a 7-year-old child. Tori has difficulty even driving a wheelchair because her illness is progressing and her arms are also curved.
The girl's mother, Wendy, looks after her daughter around the clock, this is her job for the last 19 years and she is completely desperate. She told the press about Tory's story, hoping that some of the doctors would take over her treatment. Currently, a group of geneticists from Queen Mary University of London is working on a method for obtaining DNA from Tory's bones in order to study her in detail and learn all about her disease.
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- When I was three months pregnant, I was told that the fetus had fluid in the head and that he would have Down syndrome. But she was born the most ordinary child. The alarm was sounded when she began to stand up and tried to start walking, something was wrong with her legs, they were twisted.
Tori's legs have grown crooked and unnaturally long, she cannot stand up and walk
The mother and child were sent for examination to the Royal Hospital for Women and Children in Brisbane, where doctors diagnosed little Tory with Proteus syndrome. Wendy Punch was completely devastated by the news, especially when she was told that her daughter would be seriously disabled.
Every year Tory's condition worsens, she has already gone through several operations after she had broken legs, one of her ovaries was also removed due to the development of a cyst, and soon an operation is planned to remove the second, that is, Tory's children will never.
The bones of her skull continue to stretch upward, and small tumors are actively growing on the soles of her feet and between her toes, which is why she cannot wear shoes.
Now the doctors are sure that her hands are also losing their functionality, it is very difficult for her to master a wheelchair. Her mother was forced to leave her former job and devote her life to caring for her daughter.
“I worked in a motel, but when Tory was diagnosed with her, I had to quit. It is very difficult, but I keep thinking to myself that I am doing everything right because it has to be done. The support of my family helps me to hold on.
In the future, Wendy wants to buy a motorized stroller for Tori, as with an ordinary girl it is difficult to handle, her twisted hand brings her down. There are also plans to purchase a special lift for the car, so that you can sit in it without getting off the stroller.
Despite the difficult diagnosis, Mrs. Patch is sure that her daughter is cheerful, she says that she loves to watch the funny show Hannah Montana and loves to play video games like any teenager.
