Fifteen-year-old Hunter Steinitz is one of just 10 people in the U.S. with a rare disease called Harlequin ichthyosis
Hunter Steinitz’s appearance is jarring. She knows that.
A teenage girl with bright pink skin, a hairline that starts on the top of her head, and a body that is constantly covered in a layer of moisturizing ointment tends to grab attention.
Add to that the fact that her condition is caused by a genetic skin disease that is so rare only about 10 people are now living with it in the United States, and it means most people have no idea why she looks the way she does. Sometimes people ask whether she is a burn victim or just has a really bad sunburn. Sometimes, she can tell, they think she must have a contagious disease and they try to avoid her.
Given that, and the daily difficulties of living with the disease — Harlequin ichthyosis — Hunter would be forgiven if her desire was simply to avoid people altogether. But she doesn’t.
“I want to educate people,” said Hunter, 15, of Brighton Heights, who got a big platform to do that, being featured this month in a National Geographic Channel show, “Extraordinary Humans: Skin.”
She was chosen for the show — part of a larger series that looks at rare genetic conditions — not only because National Geographic wanted a case study to explain her disease, but because they wanted someone upbeat and articulate.
They got that with Hunter. The precocious sophomore theater major at Pittsburgh CAPA six-12 school can slip from a serious discussion of the retinoid drugs she takes to a giddy recitation of the wide variety of music she likes to listen to, from Taylor Swift to the Beach Boys.
“I tell people: I’m a normal kid. I just have a bad disease,” she said.
The fact that she even grew old enough to explain her disease and her life on her own was unexpected.
She is part of the first generation of Harlequin babies who survived beyond infancy in significant numbers. Just 20 years ago the majority of babies born with the disease did not survive infancy.
“And 40 years ago, before there were newborn intensive care units, almost all of these kids died,” said Leonard Milstone, professor emeritus of dermatology at Yale University and an expert on ichthyosis.
The disease is the result of both parents carrying the rare, mutated ABCA12 gene that causes the disorder, although the parents themselves don’t have it.
The gene provides instructions for a protein to transport lipids (fat) to the right part of the epidermis, the outermost layer of skin. Because of the mutation, that protein is not produced and the lipids are barely or not present in the skin.
Because the lipids act like mortar to the skin cells’ bricks, without them the skin cells are porous, leaving them open to infection. Researchers believe the body reacts to this abnormality by overproducing skin cells.
Hunter’s body produces cells at such an accelerated rate that her skin is about 10 times thicker than the typical person’s. She constantly has a haze of dried skin on her clothes and body as the abnormal mass of older cells slough off, leaving her skin with the texture of fine sandpaper.
Her hairline is receding because her skin grows so fast that when a hair falls out, the skin covers the follicle, preventing further growth.
Her skin is bright pink because her irritated, thick skin makes it hard for her body to stay cool, making her body warmer to the touch than typical.
Because she lacks the lipids to trap moisture, she loses about six times more water than the typical person — which is why about every two hours she has to apply a strong moisturizer, Aquaphor, which contains lipids, to keep her skin moist and supple.
More time to educate
As bad as these conditions are for her now, they were many times worse when she was born.
Harlequin babies almost always died then “either because they dried out because their skin doesn’t hold water well, or they died because they got an infection,” said Dr. Milstone.
Because their skin has been growing unmonitored in the womb, by the time the babies are born, the old skin is like armor plating — often in a triangular shape, like costumes on Harlequin clowns, hence the name. The plating can be so thick that it restricts breathing.
In addition, thick skin around the eyes pushes the inner, red eyelid out so that it covers the eyes, giving the babies an appearance that sometimes has people derisively calling them “devil babies” or “alien babies.” The same condition pushes the mouth inside out, giving them an unearthly appearance.
While Hunter’s doctors and nurses at Magee-Womens Hospital worked on her for weeks to keep her alive and then trained her parents to care for her, her mother would say she was “training to bring her home so she could die.”
But Hunter survived. Now, Dr. Milstone said, her condition has improved to the point that it seems to resemble a much more common and less severe form of ichthyosis called Congenital Ichthyosisform Erythroderma.
“At the time that she was born, if you could get past the first year of life, she should have a relatively long period of life,” Dr. Milstone said.
But the long-term prognosis is unclear because there have been so few people who survived it for very long.
Hunter sees her pending long life as more time to educate.
Her educational message starts with the disease itself — “The big point is: Hey! You can’t get anything from it!” she says with an irrepressible smile.
But she has a larger message that she believes she and her disease embody.
“Everyone with ichthyosis in general looks at life differently because of the way we have to live our lives,” she said.
“We look at things not based on appearances, I guess because we don’t want to be looked at that way.”
In fact, she has come to see that as her life’s mission. Now about to enter her sophomore year at CAPA, she said she wants to go into the ministry to use her condition to drive home the point that everyone is different — just as God intended us to be.
“My skin could be my ministry,” she said.
Her perspective is not only that of a teenager forced to find a way to deal with such a disfiguring disease but of a mother, Patti, who early on told Hunter it was her job to educate people, and a father, Mark, who insisted she live one day at a time.
“I tell people I’m very proud of what she has turned into. But I really don’t know how she became who she is,” said Mr. Steinitz, 55, a former consumer electronics sales director who works part time at a restaurant so he can raise Hunter and help care for his wife, 51, who was diagnosed two years ago with pancreatic cancer.
Show her no pity
Mary Sheehan of UPMC Shadyside was part of the team that consulted on how to keep Hunter alive in trying hours after her birth. She has gotten to know Hunter even better the last five years as her dermatologist.
“I’ve worked here for 20 years and of all of the children I’ve looked after, this girl is exceptional,” Dr. Sheehan said. “She seems to see beyond the horrendous incident that she’s in. It’s like she has this inner core of resilience that drives her.”
At meetings of the Foundation for Ichthyosis and Related Skin Types (FIRSTskinfoundation.org) Hunter is a regular, cheerful presence.
“I’ve known her for 10 years, and she’s an extraordinary human being,” said Jean Pickford, FIRST executive director.
Beginning when she entered kindergarten — “Before I could even say words like ‘ichthyosis,’ ” Hunter says with a laugh — she was pushed to educate her classmates by her mother, a retired Pittsburgh police officer. And a few years ago Hunter created cards to hand out to people she caught staring at her in public that gave a brief explanation of her appearance.
“Well, I figured I’m not going to always be around to do it for her” and explain her condition to people, Ms. Steinitz said. “She had to learn how to handle it as soon as possible.”
Hunter did her typical beginning-of-the-year presentation to her classmates at CAPA this year, and her English teacher, Liz Hustwit, said she couldn’t contain herself when she saw the pictures of Hunter as a baby.
“I was crying and Hunter put her arm around me and was like, ‘It’s OK. It’s OK. I’m OK,’ ” Ms. Hustwit said. “She’s touched us all.”
Which is not to say that everyone is receptive to her, education or not. Hunter can rattle off some of the incredibly insensitive treatment and remarks she has endured from classmates over the years — squirming in disgust if she tries to hand them a pen or paper or calling her names like “strawberry” or “tomato” — and people’s reactions when she gives them her card.
“Sometimes people think I’m asking for money,” she said.
And for all of her self-confidence about reveling in her difference, her father tells her during an interview with a reporter: “I don’t hear that from you every day after school.”
She is, after all, a teenager prone to change her mind.
But the one aspect of her life she doesn’t vacillate about is her refusal to feel sorry for herself, just as her parents taught her.
“Some people feel bad for me because of how I have to live,” she said.
“I tell them, ‘Don’t feel bad for me. Don’t pity me. Because I wouldn’t trade this life for anything.’ “