She has thicker skin now
Phoenix 9-year-old tackles life with a rare genetic condition
It’s apparent within moments of meeting her that sitting around isn’t really Lizzy Hendrickson’s thing.
She plops down on the orange sectional in her family’s Phoenix home and gets up a second later. She walks over to Buddy the blue cat, sprawled out on the leather ottoman, and pets him. She sits again and fidgets. Her face twists for a moment as she appears to mull something over. She turns to her mother, Kristin, and asks, “Can I get changed?” “Yes, you can get changed,” Kristin says.
Lizzy scoots off the couch and bounces off, her brown-bobbed head held high. She re-emerges from her room minutes later in a floral dress not too different from the one she wore before. “OK,” she says. “I’m ready.”
Lizzy is a typical 9-year-old in many ways. She makes slime — a large Tupperware container full of blue goo can be found on the Hendricksons’ kitchen counter. She acts, sings and dances, having played a pirate in a Desert Stages production of “Peter Pan” and a
guard in “Shrek the Musical.” She hangs out with her friends on the weekends.
Five years ago, Lizzy’s parents, Rob and Kristin, didn’t know if typical 9year-old things would be part of Lizzy’s life. That’s because five years ago, Lizzy started and ended each day lying on the kitchen counter as she and her parents removed and reapplied Aquaphorslicked foam bandages wrapped around her legs. The ordeal often left Lizzy writhing, crying and screaming in pain, but it was necessary. It protected her tissue-paper-like skin and the blisters that occupied it from infection.
Lizzy’s skin is weak and prone to blistering because she has a form of epidermolysis bullosa, a rare, incurable genetic condition. EB, sometimes called “butterfly syndrome,” causes the top layer of Lizzy’s skin, the epidermis, to tear, peel and blister at lighter-than-average bumps, nudges or even touches.
Treatment for 31⁄2-year-old Lizzy meant the hours-long, debilitating peeling of bandages off her raw, blistered skin, then draining, cleaning and disinfecting the blisters — the “boo-boos” or “bubbles,” as she knew them.
Lizzy still manages her EB, every day. But management doesn’t resemble the painful dressing changes of days past. And some of the EB-related anxieties that preoccupied her parents five years ago don’t fixate them so much anymore.
These days, Lizzy doesn’t start and end each day unwrapping and rewrapping her legs. She doesn’t wear thigh-toankle bandages at all. Now she spottreats bad blisters with patches that resemble large Band-Aids.
Kristin and Rob decided to stop covering Lizzy’s legs five years ago. They wanted to try it, just for a day, out of desperation and curiosity. The unwrapping, draining, cleaning and sanitizing process was “the most horrific experience,” Kristin said.
They never went back after that day. “And nobody could have advised us to do this,” Kristin said. “Because nobody could have known what would happen. But it turns out that it made her skin stronger, taking those bandages off.”
Uncovering Lizzy’s legs offered her and her family a sense of normalcy that aligned more with what other people might consider normal. “We still have things that we deal with, but it’s more of an inconvenience to us now than it is a lifestyle,” Kristin said.
Lizzy plays softball, minus the sliding, with her sister Katie, who’s 11. She swims to cope with the hot Arizona summers. She rides down water slides, even though she recently lost a 2-inch chunk of skin on her ankle doing so.
Lizzy doesn’t do trampoline parks, but she doesn’t blame that solely on her EB. Another kid accidentally landed on her ankle while jumping and broke it.
“He smashed my ankle,” Lizzy said. Kristin pulls out a photo of an X-ray on her phone — the crash landing more or less split Lizzy’s tibia and fibula in half.
It blistered, too. She had to wear a cast for six weeks, not only to correct the fracture, but also protect her blister.
“I never want to go there” — the trampoline park — “again,” Lizzy said, a grimace plastered on her face. She describes herself as a confident, but cautious person. “But I don’t really worry about boo-boos. They just happen.”
Kristin and Rob say they had to decide whether to shelter Lizzy or to let her live as normal a life as possible. After learning by trial and error that Lizzy’s skin was stronger when it wasn’t fully bandaged, they dispensed with the coverings and now adjust when needed.
“Lizzy,” Rob said to his daughter. “Is there anything you don’t get to do because of your EB?”
“No,” Lizzy replied. “Not really.” She avoids playing contact sports in physical-education class. That’s about it.
The freedom Lizzy has experienced throughout her life is possible thanks to the milder nature of her EB, the expert advice she has received for it and her openness to try new treatments.
Lizzy has EB simplex, the most common subtype of EB, according to one of Lizzy’s doctors, Dr. Harper Price. Price is the director of Phoenix Children’s Hospital’s Pediatric EB Clinic, one of only four specialized EB clinics in the United States.
Price said simplex is usually the mildest and most manageable out of the four subsets. She has treated Lizzy since she was diagnosed with EB a week after she was born. Price said all people with EB, even if they have the same subtype, experience and exhibit symptoms differently. Although Lizzy’s skin has become more resistant to blistering over time, that’s unique to her. Other people with simplex may not show the same progress. They could start out with stronger skin that weakens over time. They might not even see a change.
“It just depends,” Price said. That’s a recurring theme with EB — the severity and treatability of it depends on the individual. There are ways to try to predict how a person’s condition will progress, Price said, but they aren’t absolute.
Rob and Kristin recognize that most of the one in every 20,000 Americans living with EB aren’t as lucky as Lizzy in regard to health-care access. Lizzy has had top-of-the-line care and education about her condition practically since birth, thanks to the Phoenix Children’s EB unit. The family’s insurance provider, after some kicking and screaming, agreed to cover Lizzy’s wound-care supplies as “medically necessary.”
This is an uncommon success, Price said. Many, if not most, insurance companies don’t cover wound supplies. Those supplies can cost thousands or tens of thousands of dollars a year, depending on how much skin a person needs to cover and how often that person needs to change bandages.
Also, people seeking treatment for EB often run into walls trying to get medical advice. Doctors and members of the EB community call it “‘the worst disease you’ve never heard of,” because outside of the clinicians who work in EB specialty clinics, many providers — even dermatologists — have never treated anyone with EB before.
“The trend we typically notice with providers that aren’t as familiar with (EB) is fear, rather than active participation in the care,” said Alex King, the outpatient occupational therapist at the Phoenix Children’s EB unit. “They’ll kind of say, ‘Whatever works for you’ is what we hear.”
That’s valid advice to an extent, King said. Doctors and other health-care providers should and do learn from what EB patients say has been successful or not so successful in managing their symptoms. But telling people to do “whatever works” for them is hard when they might not know where to begin.
The lack of education and hesitance from a medical provider — the one person expected to know the most about a condition — can cause people with EB and their families to become cynical about the medical system, Price said, especially if those people can’t get care at an EB clinic like the one at Phoenix Children’s.
“You can’t blame them,” Price said. “They fell through the cracks, and they were left to navigate the system by themselves. And they had nobody to help them, nobody to order their wound supplies or make sure they had all their medications and appointments.”
The Hendricksons aren’t strangers to educating non-EB clinicians about Lizzy’s condition. They had to when she broke her ankle — the emergency-room doctors thought she might need surgery, which would have been complicated and dangerous with Lizzy’s skin — and they have to step in most times when they’re not interacting with the crew from Phoenix Children’s.
Rob and Kristin know their daughter’s experience and access to specialized health care isn’t the norm. That frustrates them to no end. They say more needs to be done to help people who are in worse shape than Lizzy or who live in places not near clinics.
“When she was born, two hours later, she was (taken by helicopter) to Phoenix Children’s,” Rob said. “We instantly were part of that. And the number of kids who don’t luck into that ...”
“The disease doesn’t discriminate when it comes to rural areas, socioeconomic status, race, creed,” Kristin added. “It’s gonna hit wherever. And just because we were lucky — there are probably thousands and thousands of people out there who don’t even know (EB) is what they have. Because they haven’t had access to the quality of health care we’ve had here.”
When Lizzy was 31⁄2, testing a potential long-term EB treatment or cure in clinical trial was said to be 10, maybe even 15 years out. Those estimates were wrong, though. Lizzy is part of a trial now, five years later.
Lizzy, Rob and Kristin can’t share many specifics of the trial, because it’s in progress. Lizzy can say, though, why she wanted to participate in it.
“I want to help other people,” she said. She cares about helping other kids and adults like her so much, she puts up with getting her blood drawn at every three-hour trial evaluation, even though she despises it. Lizzy just finished the last week of the eight-week trial. Every night for 56 days, she had to apply a hydrogel cream to her skin while her parents took detailed notes of their observations. They’ll continue observing her progress for the next eight weeks, as the post-trial process concludes.
The topical cream — created by Troy Hills, New Jersey-based pharmaceutical company Castle Creek — is supposed to reduce inflammation in blistered skin. Reducing inflammation could cause the skin to become stronger, long-term, which would hypothetically make it blister less or stop blistering altogether. Kristin, who is “cautiously optimistic” about a full cure to EB, thinks targeted gene therapies, “where they can go in and actually fix the area of the mutation,” will be the answer.
“But it’s so far from being — I mean, it hasn’t really been tested on humans yet, in any disease,” Kristin said. “So, it’s out there, I think it’s going to happen. But it’s going to take time.”
Price, of Phoenix Children’s Hospital, concurred with Kristin: Gene therapies are the future. But they aren’t necessarily cures for EB, and they haven’t been tested widely in the United States.
Price said pharmaceutical companies like Castle Creek have expressed interest in testing therapies for treating and potentially curing skin conditions like EB over the past few years. “We get an email every two to three months about someone else who is interested in working with us,” she said. “And that’s never happened. It’s bursting.”
Price attributes this to researchers viewing skin as a window to the body’s general health. “If skin heals, the inside is generally doing better, too,” she said.
Lizzy understands that most people have never heard of EB. She understands most might not have any idea why her skin looks the way it does. She is patient on these fronts.
That doesn’t mean she doesn’t get frustrated when people make ignorant comments or ask her ignorant questions. “Certain questions kind of bother me,” Lizzy said. “If they say something like ‘What the heck do you have?’ — that a little bit bothers me.”
Mostly, she brushes them off. She tries to not let any unintentionally or intentionally mean comments get to her.
Katie also gets frustrated when people judge her sister based on her skin. Once, four or five years ago, a person called the police on her dad while they were grocery shopping. They told the dispatcher they suspected Lizzy was being abused, based on the blisters on her face, arms and legs.
“Just because she had so many booboos,” Katie said, scowling.
Rob doesn’t harbor any bad blood against the officer or the person who called the police. “He did exactly what I hoped he would do, and the person who called the police? I wasn’t devastated about them, either. They were trying to look out for kids.”
What really devastates him and Kristin is that neither the officer nor the police-calling shopper could fathom the endless hours, the sleepless nights, the early mornings that have gone into caring for their daughter.
“And to have somebody saying we may be abusing her?” Rob said.
“If only they knew,” Kristin replied. “If only they asked,” Rob said, looking down.
Lizzy maintains a positive outlook about herself, despite questions, observations and comments from peers and strangers. And she has advice for other kids who have EB or any other visible skin condition. Surround yourself with people who will stand up for you when people are ignorant, she said. For her, that person is often Katie.
But, more importantly, she advises: Block out the noise, and keep going.
“If they’re being mean … just say, ‘Bye, Felicia!’ Have hope in yourself because, one day, there will be a cure,” she said. “And you’ll get better.”