Local woman overcomes 'one in a million' birth defect - Tucson News Now

Local woman overcomes 'one in a million' birth defect

(WMC-TV) - A Mid-South woman is in many ways the "girl next door" except she does not look like anyone you have ever seen before. Even more, she is not supposed to be alive.

Stephanie Turner lives in Wynne, Arkansas and we are asking that you look past her exterior into the hearts of a woman and her loving family, who are witnessing a modern-day miracle firsthand.

"There was a feeling something's not just normal here. That's when they rushed her straight from me. I looked at her dad and her dad just said, 'It's not good. She will not survive over an hour.' I didn't have any idea what to expect," said Stephanie's mother, Donna Palmer. "They just kept saying, 'Please be prepared.' Her mouth was swollen inside out."

"That was 20 years ago and 20 years ago people, babies didn't survive with what I have. It's like one in a million," added Stephanie.

Stephanie Turner is one in a million.

At 21 years old, she is the second oldest American living with Harlequin Ichthyosis, a debilitating skin disease that, until recently, doctors knew very little about.

"They brought a medical book," said Donna. "It was less than a paragraph that just said this is what it is and there's no chance of survival."

Harlequin Ichthyosis is extremely rare.

Stephanie's condition is the result of a specific gene mutation found in both of her parents.

"When I was born I had huge like cracks in my skin and it was completely open to everything, it was awful," explained Stephanie. "Babies would die from dehydration, from infection. The skin was so tight it made it hard for babies to breathe, it was just an awful, awful situation."

Stephanie sheds skin quickly, cannot grow hair, and most importantly, does not have a top layer of skin.

It is the top layer that keeps out bacteria and regulates body temperature.

She does not sweat and without her outer skin, it is dangerous if she overheats or gets an infection.

"All my life it's been pretty much you have to pay to play," said Stephanie. "You know, I really want to play today, I know I'm going to be sick tomorrow."

She added, "But sometimes I get too hot and I just have to suck it up and be tough the next day."

Not only did she beat the odds at birth, she also thrived as a child. She took ballet, became a cheerleader, a hunter, and as an adult, she found true love.

Stephanie met her husband, Curt, on Facebook.

"I messaged him and I don't know what came over me but I messaged him and I was like, just thought I'd let you know, you're pretty cute," she said.

Curt thought Stephanie was cute too and never once asked about her skin.

"I expected him to ask me, but he didn't even ask me," she said. "And I said, 'Are you even wondering about why I'm red? Did that not even cross your mind?'"

"When I was real little, my dad got burned real, real bad. So the whole time I was growing up I'd see his scars, I'd notice it, and it kind of bothered me, but at the end of the day he was still my dad," explained Curt "Big Boy" Turner.

He continued, "It changed my perspective on how I looked at people. You don't look at somebody and judge them by what's happened to them or what they were born with because you never know. They can still be a truly amazing person"

"She's an amazing girl, and I knew the second I met her, I wasn't letting her go."

In May, Stephanie will give birth to a baby boy.

According to the First Foundation, a research group studying Stephanie's case, she will be the first woman with Harlequin Ichthyosis to ever give birth.

"When she was born I thought, what if she never gets married and has a family," said Stephanie's mom. "I don't think she would have this baby if it wasn't completely a gift from God."

Through genetic counseling, Stephanie and Kurt are confident their son will not be a Harlequin baby.

"There's a very very very slight chance, almost none," said Stephanie.

There is no medical prognosis for what is next, but as Stephanie enters uncharted territory, she hopes her story will inspire others to see the world, and themselves, differently.

"There are a lot of kids who have disabilities of all kinds, whether they are visible or not," she said. "Giving up wasn't an option for us and it never, never has been. That's why I don't, I don't let anything stop me."

She continued, "Life is way too short. God made you for a reason, he put thought into making you, there is a time, and a reason for everything. I believe that with everything that I have."

Stephanie's mom says she cannot wait to spoil her grand baby rotten.

Action News 5 plans to follow up with the Turner family later this month, after Stephanie's baby is born.

Contact your OBGYN about testing for Harlequin Icthyosis, but remember, the gene mutation is very rare and both mom and dad must be carriers before it can be passed on to their offspring.

May also happens to be Harlequin Ichthyosis awareness month.

Copyright 2013 WMC-TV. All rights reserved.

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