By William Smith
Lily Pearson, 2, of Burlington is like most girls her age.
She’s expressive. She’s energetic. She doesn’t know a stranger. And she loves to hug.
“She has a bright personality. She wants to play with everybody. It doesn’t matter who you are,” her mother, Alexus Pearson said.
Lily was born with an extremely rare condition — AEC (Ankyloblepharon Ectodermal Dysplasia and clefting) — a condition characterized by abnormal development of ectodermal tissues, which includes the hair, skin, nails, sweat glands, and teeth. There are about 150 variations of AEC.
“We were tested, and we don’t have it (AEC),” Alexus Pearson said. “Lily’s AEC is a genetic mutation.”
A rare genetic mutation
Only one in 100,000 children suffer from the genetic condition, and Lily was born with a litany of problems that go along with AEC. She was born with a cleft palate and a webbed toe. The corners of her eyes were fused shut, and she wears thick glasses to correct her vision. Lily also suffers from hearing loss and wears a hearing aid strapped to her head.
She also is extremely susceptible to eczema, which causes skin erosion on her head that can get infected and turn into lesions.
“When she was born, her head was all raw to the touch. She looked like a second-degree burn victim, honestly,” Alexus said.
The two defining characteristics of AEC, at least for Lily, are her reduced sweat glands and weak tooth enamel.
“She can’t sweat properly. She gets overheated, and it can become life or death,” Alexus said.
Due to her weakened tooth enamel, several of Lily’s teeth have already broken off. By the time she’s an adult, she will likely have dentures or teeth implants.
“We have to put fluoride on her teeth every two weeks,” Alexus said.
Lily’s parents — Alexus and her husband Jacob Pearson — are saving money for an upcoming dental surgery that would cap her teeth and give them extra longevity. The surgery is considered cosmetic, so it won’t be covered by insurance.
They are hoping for the passage of Ensuring Lasting Smiles Act (ELSA), which would require all private insurance groups and individual health care plans to cover medically necessary services resulting from congenital abnormalities. That coverage would include services and procedures for any missing or abnormal body parts necessary to achieve normal body function, including teeth.
The act passed the U.S. House of Representatives in April. But there are still more steps to go.
“We’re running out of time here,” Alexus said.
Living with AEC
Lily is a regular at the University of Iowa and Clinics and has undergone multiple surgeries.
“She will be going in for lower eyelid surgery soon,” Alexus said.
Lily is too young to be aware of her physical limitations, and she never stops moving. It can make for a dangerous combination for her reduced sweat glands. Winter can be just as dangerous, as Lily is far more prone to succumbing to hypothermia.
And not every physician has heard of AEC. Jacob and Alexus discovered that the hard way.
“We have had to learn to advocate for her because her condition is rare,” Alexus said.
Not long ago, one of Lily’s eyes swelled shut. Alexus was pretty sure Lily had facial cellulitis – an infection of the dermis on the face. Lily had facial cellulitis before and is susceptible to it because of her condition.
The first time Alexus took Lily to the hospital for the infection, Lily was running a 104-degree temperature, but they were told by medical staff that facial cellulitis only occurs in both eyes.
“They didn’t know what it was. They said there was no infection,” Alexus said. The Pearsons then took Lily to her usual eye doctor in Iowa City, who also didn’t have the answers they were seeking.
Desperate, the family rushed Lily to the emergency room at the University of Iowa.
No one there had heard of facial cellulitis either, but the Pearsons weren’t budging.
“We weren’t going to leave Iowa City until we got answers,” Alexus said.
Medical staff eventually discovered that Lily not only had facial cellulitis but also had MRSA (a form of staph infection) in her eye. An antibiotic treatment wiped out the infection in just a few days.
Lily isn’t the only child living with AEC, but there aren’t many. Alexus has been able to connect to some of those families through Facebook and is planning a 5K run/walk for next spring in Burlington that will raise awareness and dollars for National Foundation for Ectodermal Dysplasias (NFED).
The money donated to the NFED will then be used for vital health and cosmetic items such as wigs and cooling vests, as well as medical research. Alexus and Jacob attended their first family conference in St. Louis, Mo., last month, and met fellow parents who are dealing with AEC.
“We had doctors come all the way from Germany to explain how their research was going, what kind of new developments they have,” Alexus said.
For now, life will go on as usual. Alexus is starting a new teaching job at Corse Elementary, while Jacob continues to work as an IT professional at Catfish Bend Casino. Lily is starting preschool, which her parents hope will develop her social skills further.
Lily already knows how to love. Now she will start learning to live.
“It’s mostly getting her aware of her (physical) limitations. That’s our biggest issue right now. She doesn’t want to stop. She wants to keep going. She would be outside for hours if we let her,” Jacob said.
Jacob Pearson adjusts the hearing aid for his daughter Lily Pearson, who was born with Ankyloblepharon Ectodermal Dysplasia and clefting (AEC) syndrome, on Monday, Aug. 29 at their Burlington home. Photo/John Lovretta for The Beacon