By Amanda Stringfellow @amanda_l_s
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Stephanie Turner from Wynne, Arkansas, USA was born with the genetic condition, which causes her skin to be abnormally thick and severely cracked.
The 23-year-old cannot grow much hair, her ears and eyelids are receding and the disorder has caused problems with her hands and feet.
She is also highly susceptible to germs that would normally be blocked by the skin’s outer barrier.
But despite these trials Stephanie has beaten the odds to become the first sufferer to give birth to a child.
At 23, she is currently the oldest female with the condition in the US and has had to endure decades of hurtful comments about her unusual looks.
“I’ve actually had someone come up to me and ask if I was in a fire,” Stephanie said.
“If it gets too hot I had to stay in, I’d get sick, pus would come up, my skin would hurt and it would be awful.”
When Stephanie was born her mother Donna was told her daughter was unlikely to survive the first few days.
“They told me babies who are born with this skin condition had no hope,” Donna said.
Stephanie’s survival is partly thanks to a cream, which keeps the bacteria out and lubricates her tough skin and restricted limbs.
“I always spend about 15-minutes putting lotion on because my skin is so tight and doesn’t have any give,” she said.
“The skin is the only thing I’ve ever known, it’s just born like this so I don’t know how to look at myself any different.”
And Stephanie’s positive attitude in the face of constant pain and discomfort is what attracted her now-husband Curtis.
The couple met and married months later in a whirlwind romance.
Curtis said: “When I met her I didn’t see a person with a skin disorder, I just saw a beautiful woman.
“She was funny and she’s always trying to make things positive.”
Soon after the wedding Stephanie became pregnant.
“I always wanted to be a mum but I didn’t know if I could have kids,” she said.
Stephanie knew she was risking her life by deciding to have a baby.
Pregnancy in a woman with Harlequin syndrome was unprecedented.
The big fear was whether the skin on Stephanie’s stomach would stretch, as she grew bigger during pregnancy.
“The doctors couldn’t tell us anything because I was the first one to consider having a baby,” Stephanie said.
But against all expectations pregnancy was beneficial for Stephanie’s rare skin condition and she gave birth to a healthy baby boy.
Now the couple are parents to two children Willy, aged two, and Olivia, aged four-months.
Both parents must have genetic defect for Harlequin to be passed on to children and as Curtis doesn’t have the defect both Stephanie’s babies escaped their mother’s painful condition.
“I can’t tell you what good of a feeling it is just to have your children healthy and happy,” she said.
“I hope the future holds nothing but happiness. I’m sure there will be a few bumps along the road, but that’s life.
“We’re just focusing on my two perfect babies and my wonderful husband.”
Curtis said: “Stephanie is a super-mum, she can be doing 50-different things at once and still have time to smile and take care of both the kids.”
Stephanie's story features in a new series of Body Bizarre on Thursday September 3, 9pm, on TLC.