WTF Bad genes, bad diet, or just bad luck?

Discussion in 'The Howard Stern Show' started by Shithead, Mar 24, 2016.

  1. Shithead

    Shithead Well-Known Member

    Reputations:
    91,508
    Joined:
    Jan 16, 2012
    Messages:
    13,330
    Likes Received:
    21,496
    Teenage girl whose legs and skull are growing uncontrollably due to rare 'Elephant man' condition

    A teenage girl is battling a rare medical condition causing her legs and skull to grow uncontrollably.
    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.
    [​IMG]
    +10
    Tori Punch, 19, is battling a rare medical condition causing her legs and skull to grow uncontrollably
    [​IMG]
    +10
    Miss Punch has Proteus syndrome – one of the afflictions the Elephant Man is thought to have suffered - which causes benign tumours known as lymphomas to erupt all over her foot
    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.
    '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.
    [​IMG]
    +10
    Proteus syndrome causes her legs grow at an angle and to an unusually long length. She has not been able to stand up by herself since she was 18 months old
    [​IMG]
    +10
    [​IMG]
    +10
    Since she was diagnosed, the teenager has undergone multiple surgeries – including having her legs broken and reset twice. Pictured are the growths on her feet which leave her unable to wear a shoe
    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.
    [​IMG]
    +10
    The condition also means Miss Punch has learning difficulties and has the mental age of a seven year old
    [​IMG]
    +10
    The condition is beginning to affect her arms, making it difficult for her to use her manual wheelchair
    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.
    [​IMG]
    +10
    [​IMG]
    +10
    Her mother and full time carer Wendy Punch, 43, is sharing her story in the desperate hope doctors from around the world may be able to help her daughter
    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.'
    For more information visit: www.gofundme.com/f98a4nm4
    WHAT IS PROTEUS SYNDROME?
    [​IMG]
    +10
    Miss Punch was diagnosed with Proteus syndrome as a baby, when doctors noticed bowing of her legs
    Proteus syndrome, thought to affect only a few hundred people worldwide, results in bone overgrowth.
    The word 'Proteus' comes from the name of the ancient Greek god of change.
    Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
    In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body.
    This overgrowth is usually asymmetrical, so corresponding body parts are not affected in the same way.
    Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss.
    Proteus syndrome results from a mutation in the AKT1 gene.
    This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth.
    The AKT1 gene helps regulate cell growth and division and cell death.
    A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally.
    More men are affected than women, but it is not known why.
     
  2. Mark Mayonnaise

    Mark Mayonnaise You look like a tree! VIP

    Reputations:
    315,698
    Joined:
    Sep 8, 2010
    Messages:
    177,191
    Likes Received:
    59,185
    :jj:
     
    John Mahlin and Lemmy like this.
  3. Stretch5000

    Stretch5000 Well-Known Member

    Reputations:
    102,808
    Joined:
    Mar 17, 2014
    Messages:
    4,226
    Likes Received:
    10,241
  4. sfgirl

    sfgirl Well-Known Member VIP

    Reputations:
    37,582
    Joined:
    Aug 30, 2010
    Messages:
    4,484
    Likes Received:
    3,081
    so many other things I could comment on....being the snarky person I am....but I feel bad for the kid; medical condition, teeth weight...
    ok so there, I said it.
     
  5. FishySausage

    FishySausage Original Nuttah VIP Gold

    Reputations:
    154,647
    Joined:
    Aug 25, 2010
    Messages:
    12,769
    Likes Received:
    21,814
    Thanks for bummin me out, shithead
     
  6. Winston Ono

    Winston Ono Well-Known Member

    Reputations:
    -5,030
    Joined:
    Apr 1, 2012
    Messages:
    1,504
    Likes Received:
    1,966
  7. MadWoman777

    MadWoman777 Well-Known Member

    Reputations:
    34,635
    Joined:
    Mar 2, 2012
    Messages:
    3,793
    Likes Received:
    5,695
    This made me cry.
    (And Hitler had to commit suicide.)
     
  8. Snotty

    Snotty My Snothand be strong!!! VIP Gold

    Reputations:
    83,070
    Joined:
    May 13, 2012
    Messages:
    25,289
    Likes Received:
    17,754
    What, No "Would hit it" Yet?
     
    rabbigottfried and kingship like this.
  9. Pooh bear

    Pooh bear Well-Known Member VIP

    Reputations:
    343,550
    Joined:
    Jan 9, 2014
    Messages:
    16,542
    Likes Received:
    41,326
    Poor thing.....you have to wonder why these things happen to people :crying:
     
  10. Mugsy

    Mugsy Well-Known Member

    Reputations:
    13,971
    Joined:
    Aug 14, 2013
    Messages:
    1,757
    Likes Received:
    3,503
    Nuclear radiation, emitted during the ancient nuclear war between the Targzissians and the Skreed, you understand...
     
  11. yaddc

    yaddc Well-Known Member

    Reputations:
    103,971
    Joined:
    Jan 13, 2014
    Messages:
    23,120
    Likes Received:
    20,685
    Wow and I was complaining about a pimple that looks like I have a 3 rd eye.
     
    Trophy Knife, natepig, Tracy and 3 others like this.
  12. Lemmy

    Lemmy Douchebag Extraordinaire Gold

    Reputations:
    428,725
    Joined:
    Jan 16, 2012
    Messages:
    30,311
    Likes Received:
    31,047
    Mr. Potato Head likes this.
  13. yaddc

    yaddc Well-Known Member

    Reputations:
    103,971
    Joined:
    Jan 13, 2014
    Messages:
    23,120
    Likes Received:
    20,685
    I'm gonna go with bad luck.
     
  14. Lemmy

    Lemmy Douchebag Extraordinaire Gold

    Reputations:
    428,725
    Joined:
    Jan 16, 2012
    Messages:
    30,311
    Likes Received:
    31,047
    :owned:
     
    RenchFries likes this.
  15. goldtopper

    goldtopper Well Known Heterosexual Gold

    Reputations:
    308,396
    Joined:
    May 31, 2013
    Messages:
    17,098
    Likes Received:
    43,456
    poor baby.
     
  16. Dirty South

    Dirty South Large Member

    Reputations:
    267,947
    Joined:
    Jul 16, 2012
    Messages:
    24,627
    Likes Received:
    25,054
    That's really sad.
     
    stanggirl and LaserT like this.
  17. Shortwave98

    Shortwave98 A-Number 1 Banned User

    Reputations:
    178,992
    Joined:
    Nov 9, 2013
    Messages:
    31,231
    Likes Received:
    31,971
  18. Krinkle

    Krinkle What?

    Reputations:
    75,207
    Joined:
    Oct 14, 2013
    Messages:
    2,014
    Likes Received:
    5,430
    No jokes for the innocent.

    Poor kid.
     
  19. Mark Mayonnaise

    Mark Mayonnaise You look like a tree! VIP

    Reputations:
    315,698
    Joined:
    Sep 8, 2010
    Messages:
    177,191
    Likes Received:
    59,185
    Freak!
     
    AcquiringSignal likes this.
  20. AcquiringSignal

    AcquiringSignal Girthy VIP

    Reputations:
    92,332
    Joined:
    Apr 16, 2012
    Messages:
    6,586
    Likes Received:
    17,102