Elizabeth Federici was born in March 2016, and she was the little girl Heather and Kevin Federici had been waiting for.
The couple moved to Carroll County from Columbia when Heather was pregnant because they liked the school system and intended to raise their daughter there. They bought a house with a pool in Eldersburg and started to prepare for Elizabeth’s birth.
Heather said she pushed about four times that day, but never felt a thing, thanks to the epidural. Kevin cut Elizabeth’s umbilical cord, but the doctors and nurses noticed something odd about the newborn — she didn’t have skin on the tops of her feet.
“All of a sudden, there were more people in the room,” Heather said. “A lot of people were coming in and looking at her. They wiped her off and took skin off the back of her behind … I held her and thought she was so beautiful. She looked fine, eight pounds and 10 ounces, she was a big girl.”
Elizabeth was taken from her parents, put in isolation, and Heather was told the Centers for Disease Control and Prevention was going to be called. She was asked if she had herpes, to which she told them, “No.”
No one knew what was wrong, nor did anyone understand the extent of Elizabeth’s skin fragility.
A rare diagnosis
One of the doctors observing Elizabeth’s condition in the newborn intensive care unit consulted with Johns Hopkins Hospital’s Dr. Bernard Cohen, who completed a biopsy of Elizabeth’s skin. The results came back inconclusive, so the Federicis decided to have a genetic test completed. Those results eventually confirmed the state of their daughter’s condition as epidermolysis bullosa.
According to the Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA), epidermolysis bullosa affects one out of every 20,000 births in the United States. About 200 children a year are born with this rare genetic connective tissue disorder that results in easy blistering and tearing of the skin, practically to the touch.
There is no treatment or cure for the disorder, also known as EB, but researchers are making strides in developing therapies to help those affected to live as comfortably as possible, according to DEBRA.
There are four major types of EB — EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome. Elizabeth has EBS, Generalized Severe, which affects an upper layer of skin. Her skin should heal without scarring, and she should have a normal life expectancy.
“My husband and I did a saliva test and neither of us were the carrier,” Heather said. “It was a completely spontaneous mutation, so if we were to have another baby, we would be like anybody else with the chances of them having EB. If [Elizabeth] wanted to try to have a baby when she grows up, her baby would have a 50/50 chance of having the broken gene.”
Those affected with EB experience skin blistering that can begin any time between childhood and adulthood. It is usually limited to the hands and feet, but blistering can occur anywhere that enough friction or trauma is present. Skin on the palms of the hands and soles of the feet may thicken or harden later in life.
“If she’s sitting on a swing or anything like that, it will cause blisters and skin shearing,” Heather said. “When she gets the blisters, her skin shears off very easily and then she’s left with open wounds. Four and a half years later, there’s still no cure and there are currently no [Food and Drug Administration]-approved treatments specifically for this disease.”
Heather wrote to Maryland Gov. Larry Hogan in the winter, prior to the emergence of the coronavirus pandemic, requesting assistance in increasing awareness of EB. Public outings with their daughter often attract stares and, sometimes, not-so-nice comments.
Elizabeth also has non-verbal autism, and Heather said it is rare for children with EB to have autism. She used common verbiage and resources provided by DEBRA to write her letter to Hogan.
“When the brain undergoes a great deal of traumatic stress over and over and over again, it can greatly impact its ability to grow and learn new things,” Heather said. “With her being nonverbal, we think that it’s possible that it’s because of the pain she’s in every day and the trauma of wound care.”
Heather received a signed copy in the mail of Hogan’s proclamation that officially declares the week of Oct. 24-31 Epidermolysis Bullosa Awareness Week. She said she does not usually share intimate details of what occurs behind the scenes when taking care of someone with EB, but she intends to use the week to educate others about the disorder.
Heather said she has received about $25,000 in anonymous donations and plans to host a “Seams Out Day” on Wednesday for people to wear their clothes inside out to increase awareness.
“Even the seams of her clothes will cause blisters on her skin,” Heather said. “I had the cutest T-shirt on her [last] Saturday and I thought I could only keep it on her for a few hours, but she has two armpits full of blisters that will probably take a few months to heal.”
Continuing to care and advocate
The Federicis first took Elizabeth to the Epidermolysis Bullosa Multidisciplinary Clinic at the Children’s Hospital of Philadelphia in November 2018, when they met pediatric dermatologist Marissa Perman. The clinic provides individualized care plans for patients and provides ongoing support for families during and between visits.
Perman said EB patients need gentle skin care and avoidance of friction to prevent blistering, and the most important treatment is wound management.
“For some patients, that involves applying moisturizing agents on the skin and often applying many specialized dressings that won’t injure the skin,” said Perman, who sees Elizabeth once every six months. “Many patients have abnormal nails that also require careful maintenance. Frequent blistering leads to itching and pain, so patients will often be treated with oral therapies to control these symptoms.
“If they have associated issues of other organs, then multidisciplinary care is paramount in caring for patients with EB.”
Heather’s mother, Val Whalen, left New York to move in with the couple shortly after Elizabeth’s birth to help care for her.
Kevin, Heather and her mother used to have to work together to perform wound care for Elizabeth, now 4 years old, when she was an infant. Whalen would attempt to distract Elizabeth while Heather and Kevin popped their daughter’s blisters with needles.
The couple moved to Elkridge in June 2019 to be closer to Verbal Beginnings, a specialized program Elizabeth attends, and they allocated one of the spare bedrooms in their home as a “wound care room.”
Whalen moved back to New York last year, and Heather and Kevin have since developed a system where Kevin does wound care in the morning and Heather in the evening.
“She doesn’t understand and she gets upset when she can’t communicate her pain,” Heather said. “There’s a big gap between what she actually does understand and what she can communicate … we’ll be watching ‘Sesame Street’ and doing wound care, and all of a sudden she’ll be unhappy and start squirming and screaming.”
Elizabeth’s feet are especially tender for her and are always blistered, so she wears slippers throughout the day. Heather and Kevin use bleach or vinegar in Elizabeth’s bath water to help fight infections from her wounds, and they have to wear fishing waders if they are in the bathtub with her.
She cannot be outside when the temperature is above 72 degrees because the sun only weakens her skin, risking further infection to her blisters. The couple hopes to get a saltwater pool installed at their home because the water should help heal Elizabeth’s skin.
Elizabeth will age out of Verbal Beginnings next summer, and her parents are considering putting her in public school.
Heather said they want people to know that their daughter is not contagious. She is loved, and they will continue to be her voice and to advocate for her until she is old enough to do so for herself.
“My husband and I waited a long time to have kids,” Heather said. “I’m 43, and he’s 51 this [month] ... so we’re not going to be here forever. We need her to have as normal a life as possible and people have to understand that not everybody looks the same.
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“She’s a tough little girl.”