Rare diseases: the real X-Men

“The greatest gift we have is to bear their pain without breaking and it comes from your most human part, hope.” X-Men: Days of Future Past Download the butterfly from the road.

The movies present the X-Men as people with genetic mutations that give them superpowers. Although real world X-Men and – women exist, they would never describe their rare diseases as superpowers:

Congenital insensitivity to pain (CIPA)

You wouldn’t put your hand on a hot stove, right? It seems like a stupid question, but what if you couldn’t feel pain? At first, it may seem like a great prospect: ‘No pain? That would make me invincible!’ Not so much. When you can’t feel pain, your brain has no idea when your body is in danger, which can result in a lot of injuries.

The challenges:

  • A sufferer is unable to feel any type of physical pain. They could fall and not even know that they’ve broken their leg!
  • Can lose their sense of smell (anosmia)
  • Other diseases may be hidden
  • Reduced life expectancy

Harlequin-type ichthyosis

The majority of us have had dry skin at some point. We dab on a bit of moisturising cream and it’s back to normal pretty quickly.

But imagine that you had thick, dry and cracked skin over most of your body? This severe genetic skin disease is called Harlequin-type ichthyosis.

Feel your finger nails for a second – that’s what the skin will most probably feel like. It’s because the affected gene causes an overproduction of keratin protein (the protein that makes up your fingernails.)

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The challenges

  • Limited movement of arms and legs
  • Your skin is unable to retain water
  • Unable to regulate body temperature
  • Your body is unable to fight infections
  • Breathing difficulties

Progeria

You’re 10 years old. You love watching cartoons and playing with action figures – the only difference – you look like you’re 40 years old. This peculiar condition is called Hutchinson-Gilford progeria syndrome.

Progeria (as it’s more commonly known) is a genetic disease that causes children to age very rapidly. Other characteristic symptoms include slow physical growth rate, hair loss and joint deformities. However, it’s their facial structure that is most affected. These characteristics include: bulging eyes, a thin nose and lips, a small chin, and ears that stand out.

The challenges

  • They have a short lifespan (an average of 13 years)
  • Arteries harden at a young age, and keep getting worse as they age
  • Their chances of a heart attack or stroke are very high

Remember when you celebrated your 21st birthday? Or maybe you’re still looking forward to that day? The embarrassing speeches, seeing all your friends and family together – think of how lucky you were to be able to do this! People with CIPA or Progeria may not live to celebrate that birthday milestone. Your life is a gift.

Sources:
http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain
http://ghr.nlm.nih.gov/condition/harlequin-ichthyosis
http://rarediseases.org/rare-diseases/ichthyosis-harlequin-type/
http://thechirurgeonsapprentice.com/2014/08/11/disturbing-disorders-a-brief-history-of-harlequin-ichthyosis/
http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome
http://www.mayoclinic.org/diseases-conditions/progeria/basics/causes/con-20029424
http://healthylifemed.com/craniopagus-parasiticus-cases-that-will-astound-you/
http://forums.superherohype.com/showthread.php?t=358015