Do yourself a favor and Don't google [google]HARLEQUIN ICHTHYOSIS[/quote]. Or, if you feel you must, link provided to do so.Man Survives Rare Skin-Shedding Disease
Harlequin Ichthyosis Usually Fatal At Birth
UPDATED: 3:01 PM EST November 16, 2004
SAN DIEGO -- A young San Diego man has overcome the odds and has survived a rare skin disorder that is usually fatal at birth.
HARLEQUIN ICHTHYOSIS
Man Defies Odds Of Deadly Skin Disease
Caring For Rare Skin Disease Is Full-Time Job
The birth of a child is a time of celebration and anticipation. Anna-Marie Gonzalez wanted what every parent desires -- a healthy child.
"I was just hoping that he had a little nose," Gonzalez said.
But when she first laid eyes on her newborn son, Ryan, she was shocked, reported KGTV in San Diego.
"When I first saw Ryan, I just started crying. It just looked so bad," Gonzalez said.
Ryan was born with a rare genetic skin disorder called harlequin ichthyosis, where the skin sheds seven to 10 times faster than normal. Ryan's skin is as hard as a coat of armor.
"All over him were these big, thick scales with cracks. There was a little bit of hair and there cracks and fissure all throughout," Gonzalez said.
Dr. Brian Saunders, a Kaiser Permanente neonatologist, said, "When I saw Ryan, I knew what he had, and I was always taught what he had was lethal."
Saunders cared for Ryan during the first critical hours of his life.
"Because of the scales around the face, his mouth was open like a fish," Saunders said.
Ryan's tight skin was crushing his lungs.
While doctors and nurses fought to keep Ryan breathing, Saunders searched worldwide to find a way to treat him.
"We found a baby in England, who at the time was 2 years old and had been treated with a vitamin A derivative," Saunders said.
The drug Accutane had never been used on a baby, but Ryan's mom didn't care.
"I said, 'I want you to do whatever you can do," Gonzalez said.
The big, thick scales that were all over the skin became smaller and thinner. The drug kept his newly shed skin from hardening again -- but it was just the start. Ryan faced an uphill fight.
Growing up was difficult.
"Every time you walk out the door, you have to brace yourself for people's reactions," said Ryan, who is now 18.
For Ryan, managing his condition is a full-time job. Because his skin is constantly shedding, he needs to consume 7,500 calories a day. He tube-feeds himself pure protein every night while he sleeps.
"Ryan is the only one I know his age that has not only survived, but how many people do you know that are triathletes?" said Dr. Susan Bioko, Ryan's dermatologist.
Ryan is training for his second triathlon. He swims three days a week in the pool and every Saturday in the ocean.
Even though the salt water stings Ryan's tender skin, his stroke -- and his determination -- are strong. After swimming a mile in the ocean, he's still smiling.
Afterward, lotion was slathered on Ryan -- a ritual he does seven times a day to keep his skin from hardening.
Amazing that someone could survive like this.
