Every routine pregnancy check up had gone well. Angie Foy’s baby had a strong heartbeat, 10 fingers, 10 toes and a cute button nose. There was never any indication something was wrong. So, when the day finally arrived almost a year ago, and Foy started feeling contractions, she and her husband rushed to the hospital feeling excited.
Unfortunately, their excitement soon turned into something else: disbelief.
“We were thrown into a whirlwind,” said Angie Foy.
“I’ll forever remember that moment,” said Foy’s husband, Kevin Foy. “Everything was normal. The doctor told me to get my camera out and take a picture. And then everything just became quiet.”
The world around them stopped, right before chaos erupted.
Foy didn’t get to hold her baby girl in her arms. Instead, her baby, Harper, was immediately taken to the neonatal intensive care unit (NICU).
“She wasn’t suppose to make it”
Doctors where Harper was delivered had never seen anything like it. Harper was encased in a hard, thick skin. She was covered in thick plaques, much like armor, all over her body. Her skin was pulled so tightly that her eyelids had flipped inside out and the blood flow to her extremities was being constricted, causing discoloration in her limbs.
Her outlook looked grim, and so doctors had Harper transferred to Seattle Children’s level IV NICU to see a team of specialists.
Harper was diagnosed with Harlequin Ichthyosis (HI), a severe and extremely rare genetic condition that affects the skin. It is estimated to occur in only about 1 in 500,000 babies.
“This specific defect affects the outermost layer of the skin, called the epidermis,” said Dr. Deepti Gupta, a dermatologist at Seattle Children’s. “The epidermis functions as a barrier to the outside world and protects us from infection, getting dehydrated, and helps us maintain our body temperature. The defect that patients’ with HI experience keeps the skin from performing these functions. The result is the skin does not shed normally and is constantly red, dry and scaly.”
Due to the rare incidence in cases of HI, there was limited literature aside from anecdotal approaches to help steer the direction for treatment, and so Seattle Children’s specialists from dermatology, plastic surgery, anesthesia and neonatology worked together to make a plan for Harper.
“I had never seen a case like this in person, and I’ll probably never see one again,” said Dr. Raymond Tse, a plastic surgeon at Seattle Children’s. “My first question was: is this child going to survive? From what we learned about the condition, there’s about a 50% mortality rate, which usually occurs in the first few weeks of life due to infection. We knew if we were going to save her limbs, we were going to need to do something quickly.”
A team approach to care
The first few weeks of Harper’s life were filled with difficult decisions. Doctors were concerned she was going to lose her fingers or limbs if they didn’t surgically release the skin that was constricting blood flow. In some cases, constriction of extremities can result in auto-amputation where the limbs turn black and detach on their own.
“In the past, survival rates in patients with HI were poor, with high rates of mortality in the first few weeks of life due to problems breathing, infections and dehydration, but with advances in neonatal care, the use of oral retinoid medications, and new surgical procedures, survival rates have improved,” said Gupta. “One of our main concerns early on was to try to preserve her quality of life by reversing poor blood flow to her extremities that could result in auto-amputation.”
Harper’s thick skin wasn’t cracking at her hands and feet, and so doctors performed a series of surgeries to split the skin to release the constriction and increase blood flow.
“We ran into a lot of questions that we didn’t have answers to,” said Tse. “We had to come up with solutions quickly. General anesthesia was too risky, but surgery was going to be difficult on a baby who was awake and slippery because she had to be covered with ointment. Her fingers were only a few millimeters wide so we had to be precise. I think Harper’s case shows the value in teamwork. There were a lot of people involved in her care and the collaboration allowed us to come up with ways to save her limbs and keep her alive.”
As soon as the constriction was surgically released, Harper showed dramatic improvement. Her blood flow improved and doctors were able to save most of her fingers.
Finding hope in the chaos
“When people are faced with certain types of chaos, you have to figure out how to deal with it,” said Kevin Foy. “In the beginning, we were just finding ways to cope. It was like we were sleep walking. We met so many different people, from chaplains to doctors and nurses. You name it and they came by. We had a community of support around us. We needed them all because her condition was so complex.”
Harper’s care presented unique challenges for doctors and nurses as she continued to progress. Since her skin was so fragile, even simple tasks like keeping her hydrated, changing her diaper or feeding her a bottle presented challenges. Many of the usual nursing techniques couldn’t be utilized on her, and so the neonatal intensive care nurses found creative solutions to every problem that arose.
For two months, Harper stayed in Seattle Children’s NICU, under the watchful eye of a team of nurses and doctors.
“When we first saw Harper her outlook looked grim,” said Dr. Craig Jackson, medical director of Seattle Children’s NICU. “But we didn’t give up hope. We thought she would make it, and we were willing to go the extra mile for her. The nurses who cared for her every day were key to her survival. We see children who have the rarest conditions and through meticulous management, we help get them better.”
Seattle Children’s was the first hospital in Washington state to have been designated a Level IV NICU, the highest designation possible, equipped to care for the tiniest and most critically ill newborns.
Going home for the first time
Just before Halloween, the family was finally able to bring Harper home for the first time.
“Every day we faced a new challenge, but we took it all in stride,” said Angie Foy. “Once the plaques of her skin started to come off, you could see our beautiful Harper emerge.”
Harper’s parents liken her skin to that of a snake. Every two or three hours she sheds her skin.
“Everywhere she goes, she leaves a little trail behind,” said Kevin Foy. “She’s unique and she’s great.”
Harper still makes visits to Seattle Children’s for occupational therapy and physical therapy to help with minor delays she still has with movement, but she’s made tremendous progress. Cognitively she has no delays, and eventually she should be able to catch up with her peers.
Celebrating her first year
“She started at a harder place than most people, but she has made significant leaps and bounds,” said Gupta. “Harper’s family wasn’t aware of her severe skin condition and the effects it would have on their daily life prior to birth. They have done an amazing job and are her true advocates. Patients’ with HI have a defect of the epidermis, but the defect is only skin deep. Though Harper will have red, scaly and dry skin throughout her life, which may have stigmatizing effects and will require constant skin care, her intellectual development should be normal, allowing her to live a relatively normal life.”
Although Harper will always live with HI, her family is hopeful about her future. Looking back at her first year of life, it’s hard to believe how far they’ve come.
“We want her to be just like any other kid,” said Foy. “Society today places a lot on looks. We’re hoping she can overcome some negative stereotypes and thrive. She’s already overcome so much. We didn’t think she’d survive, and now she’s celebrating her first birthday. She’s our miracle!”