Woman with rare genetic condition defies the odds

A young woman has become the oldest person in the United States to live with the rare genetic condition Harlequin Ichthyosis.

Stephanie Turner from Arkansas was born with thick, hard skin all over her body. Doctors told her mother then that she might not survive past infancy.

However, Mrs Turner defied the odds and turned 23 years old this year.

According to the US National Library of Medicine, Harlequin Ichthyosis is a severe skin disorder that affects the patients' skin . It is caused by a mutation in the ABCA12 gene.

Babies with the condition are born with large, diamond-shaped plates of skin that are separated by deep cracks.

In the past, complications arising from the skin abnormality caused many infants to die from dehydration, respiratory failure, and infections in the first few weeks of life.

Now, improved medical treatment has increased their chances of living into childhood as well as adolescence.

"This skin is the only thing I've ever known, I'm just born like this so I don't know how to look at myself any different, " Mrs Turner told Barcroft TV in an interview.

The Daily Mail UK reported that  she applies a special cream to moisturise and protect her tight, dry-looking skin .

Besides surviving into adulthood, the young woman was also the first person with the condition to give birth in 2013 .

Mrs Turner recalled: "Doctors couldn't tell us anything because I was the first one (with the condition) to even consider having a baby."

The couple's greatest concerns were whether Mrs Turner's skin would stretch as her belly grew larger during pregnancy, and whether their child would inherit her condition.

She gave birth to two healthy children, as her husband Curtis is not a carrier of the defective gene.

The young mother remains optimistic about her future.

"I hope the future holds nothing but happiness. I'm sure there will be a few bumps along the road, but that's life," she said.

minlee@sph.com.sg