A baby girl, a baffling disease - and the only way to help her is to hurt her

Baby Elizabeth chews on a toy.
Baby Elizabeth chews on a toy. Photo: Katherine Frey/Washington Post

Every morning, Kevin Federici pulls on a head lamp, sterilises a sewing needle and prepares to prick his baby girl all over her tiny body.

She fights him with everything she has, kicking, screaming, writhing as Kevin's mother-in-law tries to hold her granddaughter still. This process can take three hours, sometimes four or five.

And seven hours after it ends, Kevin's wife, Heather, begins it again. Crying as her baby cries. Desperate not to cause more damage to a body already covered in blisters and wounds.

Grandmother Val Whalen offers her a banana.
Grandmother Val Whalen offers her a banana.  Photo: Katherine Frey/Washington Post

It seems like torture. But this is treatment. And for a little girl born with "the worst disease you've never heard of," it's the only one available.

In March 2016, baby Elizabeth was born. She had a round face, strong lungs and, as the nurses quickly discovered, no skin on the tops of her feet.

Soon there were 10 people in the delivery room. Someone was on the phone with the Centers for Disease Control and Prevention. As Heather lay in bed, doctors asked her again and again whether she had herpes. "No," she told them. "No."

Kevin rubs cream over his daughter's blisters and wounds.
Kevin rubs cream over his daughter's blisters and wounds.  Photo: Katherine Frey/Washington Post

Doctors consulted with a pediatric dermatologist, who offered a diagnosis: epidermolysis bullosa. Babies born with EB are often referred to as "butterfly children" because their skin is as fragile as a butterfly's wings. One nurse, changing Elizabeth's nappy, wiped the skin off her bottom. Another gave the baby a dummy that ripped off the skin around her mouth. Open wound. Open wound.

Nine days after Elizabeth's birth, Kevin and Heather were sent home with a pack of nappies, bandage supplies and a baby they were scared to touch.

"Why are they letting us bring her home?" Heather remembers thinking. "We didn't know how to take care of her. We didn't know what to do."

- - -

A few years ago, the Dystrophic Epidermolysis Bullosa Research Association of America, or DEBRA, came up with an ad campaign featuring videos of EB kids with the tagline, "It doesn't hurt to watch." The slogan was effective - but erroneous. It is searing to see a child in agony and parents tormented by their inability to help.

As Heather and Kevin learned the day their daughter was born, most medical professionals know almost nothing about EB. It was the folks from DEBRA, an organisation for parents of EB children, who shared useful insights. The group sent the family a giant box of supplies - the ones from the hospital were actually damaging the baby's skin - and the director, Brett Kopelan, spoke to them by phone. Kopelan coined the phrase "the worst disease you've never heard of" nine years ago, when his own daughter was diagnosed. "He said, 'It's going to be tough,' " Kevin recalled. "So toughen up. But you'll be able to get through it."

That was the most solace Kopelan could offer. And Heather cried upon hearing it.

According to DEBRA, 1 in 20,000 people - or 200 American babies a year - are born with EB, which results when cells are missing a protein that binds the skin together. But the disease affects each patient differently. Some have extremely mild cases that they may not even be aware of, although they probably blister more easily than most after a long run. Others are born with a type so severe that they die in infancy. Another class of EB patients lead lives marked by painful whole-body scarring, fingers that fuse together, internal blistering and a propensity to develop skin cancer that kills them in their 20s or early 30s.

There's no cure for EB, only stopgap treatments. Which means, for the most part, popping blisters so they don't expand to damage even more skin, and then wrapping the sores to prevent infection.

In the first weeks, Kevin and Heather were hopeful that Elizabeth (we are using her middle name to protect her privacy) might have a type of EB that's easily managed. But by her second month, the blisters were spreading like a rash, consuming nearly her entire body. Anything could cause new ones: the collars of her shirts, the seams of her socks, her own hands reaching out to touch her toes.

"We just want her to hurry up and grow up," Heather said during my first visit. That struck me as strange, until she elaborated. A 3-month-old can't be persuaded not to suck her fingers or scratch an itch. A 3-month-old will still need to learn how to crawl, causing fresh damage as she drags her legs across the floor.

A 3-month-old can't tell her parents where it hurts, although they already know. It hurts everywhere.

- - -

In June, Elizabeth's genetic tests came back, showing that she has EB Simplex, Generalized Severe. Because Elizabeth's EB affects an upper layer of skin, she will heal without scarring, her fingers won't fuse together, and she should have a normal life expectancy.

That day, Heather and Kevin cried with relief. Three months later, they got the results of their own genetic testing, to see which of them was the carrier. The answer was neither.

Elizabeth's EB was caused by a fluke genetic mutation. It could happen to anyone. But it seldom does.

"It just hit me very hard," Heather said. "Because I thought, 'Man, what are the chances of that?' "

After Elizabeth's birth, Heather's newly retired mum, Val Whalen, moved in to help.

Heather thought that her new-mum life would be filled with long runs pushing a jogging stroller and scenes of her dog and baby snuggled together. Instead, the dog had to be sent off to live with Kevin's mother, and all of Heather's waking minutes seemed to be spent working, puncturing blisters or wrangling insurance companies. Wound-care supplies alone can cost $1000 a month, and the Federicis switched insurers twice before enrolling with one that would pay 70 per cent of the cost.

Because of the nursing shortage, the Federicis have only been able to get an in-home nurse to visit once a week, and she doesn't change bandages.

On weekends, Kevin and Heather are on the floor together, Kevin with the needle, Heather trying to keep Elizabeth steady while "Sesame Street" plays in the background.

In her first few months, Elizabeth tolerated the procedure fairly well. But as the months ticked on, she began to fight back, her raspy voice calling out in protest.

"Even now," Heather said, "if Kevin is trying to pop a blister on her foot and he tells me to hold her leg, I don't like to hold her leg, because if I'm holding it hard I don't know if it's going to make her skin come off."

The only way to help her is to hurt her. It's a reality that ravages them.

- - -

By the winter, Elizabeth's skin looked greatly improved. Someone meeting her might not have noticed her blisters at first.

Kevin and Heather weren't entirely sure what caused the improvement. It could have been the new ointment they were using as part of a clinical trial, or the cool weather. (They'd learned the hard way that Elizabeth's skin breaks out in temperatures above 23°C.) Or it's possible that her skin was learning to compensate for the protein it lacks.

But even as things appeared outwardly better, they were actually becoming more challenging. Elizabeth was eating solids, which meant that she was producing firmer bowel movements that damaged the skin of her bottom. The initial sore caused by her first diaper change had refused to heal, and a nagging infection set in. She developed a blister in the white of her eye. And the bandage change routine was taking longer than ever. Kevin missed a couple of hours of work every morning to do the first round, while Heather rushed to her office by 6am. Then she'd leave to be home by 4.30pm so that she and Val could begin popping blisters again. On a good day, they might be able to put Elizabeth to bed by 8.30 and then start making dinner at 9pm.

"Half the time I don't even want to eat," Heather said. "I just want to go to sleep." But she knows that won't happen, because Elizabeth, itchy and uncomfortable, is up five or six times a night and needs to be soothed so she won't scratch herself.

Kevin, private by nature, never mentioned Elizabeth's condition to his colleagues. And when co-workers asked Heather about the baby, she'd say, "Oh, fine. And then I'd walk away. And then I'd cry."

- - -

Elizabeth wore a pink crown and a shamrock bib for her first birthday. She wasn't sure what to make of her Cookie Monster cake but found that she shared her favourite monster's love of chocolate chip cookies.

She has fine, straight hair, gray-blue eyes and a nose that crinkles when she smiles. Which is often. "She wakes up visibly happy every single day," Heather says. She loves wagon rides, snuggles, rice snacks and her grammy. In her 13th month, she started trying to stand. She is getting big, just as her parents wanted.

I asked Kevin and Heather if, after a year, they felt any more optimistic about life with EB. Kevin suspects that the summer will be tough, but overall, he said, "I think it's going to get better."

"I'm scared," Heather said. "I'm scared of infection. I'm scared that people are going to be mean to her. I'm scared that it's going to ruin her life."

Then I asked if, a year later, they felt more optimistic about life with Elizabeth, who's now not just an infant with a disease, but the cuddly, giggling little girl they love.

"Of course," Heather said, her eyes filling with tears. "She's just so beautiful."