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| Tori Punch |
A teenage girl battling a rare medical condition causing her legs
and skull to grow uncontrollably has cried out for help. According to
Dailymail, Tori Punch, 19, has been left unable to walk and confined to a
wheelchair by Proteus syndrome – one of the afflictions the Elephant
Man is thought to have suffered.
Affecting just a few hundred people worldwide, the rare condition
has seen Miss Punch’s legs grow at an odd angle and unusually long.
She has not been able to stand up by herself since she was 18
months old, and has scores of benign tumours on the bottom of her left
foot, meaning she cannot wear a shoe.
With a mental age of seven, soon she may not be able to use her wheelchair as the condition begins to affect her arms.
Her mother and full-time carer Wendy, 43, is sharing her story in
the desperate hope doctors from around the world may be able to help her
daughter.
Mrs Punch, from Bundaberg, Australia, said: ‘When I was three
months pregnant, one of the scans showed Tori had fluid on the brain and
I was told she was going to have Down’s syndrome.
‘But she was a healthy baby when she came out.
‘It wasn’t until she was starting to stand did they realise with the bowing of her legs there was something that wasn’t right.’
The family were sent to Royal Women and Children’s Hospital in
Brisbane, where they were told the upsetting news she had Proteus
syndrome.
Tori on her wheelchair
‘The Elephant man’, Joseph Merrick, is believed to have a
combination of Proteus syndrome and another genetic condition called
neurofibromatosis type 1, which causes tumours to grow along the body’s
nerves.
A team of geneticists from Queen Mary University of London, King’s
College London and the Natural History Museum are currently working on
techniques to extract DNA from his bones to discover more about his
afflictions.
At the time of her diagnosis, Mrs Punch said she had never heard
the condition and was ‘devastated’ when medics explained it could leave
her severely disabled.
A mutation of the AKT1 gene, the condition causes abnormal growth of the bones and skin.
It means as Miss Punch gets older, certain parts of her body will
grow faster than others. Since she was diagnosed, the teenager has
undergone multiple surgeries – including having her legs broken and
reset twice.
Just six months after both painful procedures, her legs continued
to grow outwards and against her skin in an abnormal direction.
One of her ovaries has been removed after developing a cyst and she
is scheduled to have her other one removed later this year, meaning she
will never be able to have children.
On top of this, the bones of her skull have continued to grow upwards.
She also has dozens of painful benign growths – known as lymphomas –
scattered across the bottom of her left foot – including between her
toes – meaning she cannot wear a shoe.
And now, doctors believe the condition is beginning to affect her
arms, making it difficult for her to use her manual wheelchair.
Mrs Punch said she had to give up work to care for her daughter.
She said: ‘I used to work at a motel, but when Tori started to get sick I gave it up to care for her.
‘It’s hard, but I just keep thinking to myself that it needs to be done.
‘If I don’t take care of her no one will. That’s what gets me through every day – and the family support I’ve got helps me too.’
The condition also means Miss Punch has learning difficulties and
has the mental age of a seven year old – and the family admit they do
not know how the disease might develop.
However, they are hoping to raise enough funds to buy her a power
wheelchair because she will no longer be able to push herself around as
her condition continues to affect her right arm.
They also want to buy a lift for their van to help her enter and exit the vehicle easily.
Despite her condition, Mrs Punch said her daughter is a cheerful
teenager whose obsessions include with the TV show Hannah Montana.
Mrs Punch said: ‘Tori is normally a pretty relaxed girl, as long as she’s got something that keeps her happy.
‘She’s like a regular teenager; she loves playing videogames and pretends she’s Tiger Woods.
‘We’re a very close family and do everything we can to make Tori’s life easier.’
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