Living with Ectodermal Dysplasia

Sixteen year-old Daniel Island resident Kobe Pellenz has a button on his school backpack that reads “Normal is overrated.” The statement perfectly sums up just how this tech savvy, quick-witted teen sees the world - and, more importantly, his place in it.

Kobe and his nine year-old brother, Noah, were both born with ectodermal dysplasia, a genetic condition that affects the development or function of the teeth, hair, nails, and sweat glands. According to the National Foundation of Ectodermal Dysplasia (NFED), more than 180 different disorders have been identified as part of the condition. It reportedly occurs in about one out of every 100,000 babies. The total number of patients with ectodermal dysplasia is close to the number of people living on Daniel Island, noted the boys’ mother, Linda Pellenz.

Before Kobe was born, Linda and her husband, John, had never heard of the condition.

“When he was a baby, he pretty much had a lot of issues with congestion,” recalled Linda. “A lot of issues with fevers, which, when we took him to the hospital would miraculously disappear because the ER was so cold. It got to the point where our doctors thought I was this paranoid mom!”

“We were getting a little friction from the medical community because they thought we were crazy,” added John.

Kobe’s fevers were actually a result of his body’s inability to cool itself down, a symptom of his yet to be diagnosed disorder. But it took a particularly frightening episode, when Kobe was just four months old, to truly figure out what was happening. Kobe and his parents were living in Myrtle Beach at the time, but decided to take a trip down to Charleston. While here, Kobe began crying uncontrollably. John and Linda knew he wasn’t feeling well and decided to return home. They were heading north on Highway 17 in Mount Pleasant, near the old East Cooper Medical Center, when Linda noticed that Kobe had begun having a seizure. They quickly turned in the direction of the hospital.

“We grabbed him out of the car and ran into the hospital,” said Linda. “The nurse directed us where to go and got on the phone immediately and said ‘There is a lady running in here with a blue baby!’ Everyone came to him and took his temperature. They were not sure if the thermometer went higher, but his temperature was 109!”

“I probably set the world record for the highest temperature!” added Kobe, a rising junior at Bishop England High School, as he listened to his parents’ recount the story.

Kobe was eventually transferred to MUSC, where geneticists Dr. Shashidhar Pai and the late Dr. Carlos Salinas officially diagnosed his condition. He remained in the Pediatric Intensive Care Unit for almost a week.

“Kobe being diagnosed as quickly and as early as he was saved us from a lifelong’s worth of problems,” said Linda, a strong believer in divine intervention. “I know one child who was born in Ohio the same year Kobe was born ended up dying because they killed his immune system when there is no need for antibiotics. We’re really lucky that we found out when we did…We were at the right place at the right time.”

The Pellenz family quickly plugged into the NFED, which offers a plethora of resources and support for patients and their loved ones. Kobe underwent some genetic testing through the foundation, but they were unable to find the mutated gene that doctors suspected caused him to develop the condition.

Noah, now 9 and a rising 4th grader at Daniel Island School, was born two months premature and struggled initially with breathing problems. Due to his early arrival, Noah’s suck-swallow reflex wasn’t working properly, so his formula needed to be thickened. He also suffered from repeat pneumonias. John and Linda knew ectodermal dysplasia was a possibility.

“We were told that Kobe was a random mutation, because no one else in our family has ectodermal dysplasia,” said Linda. “….There are no mystery babies that have died. Nothing like that…But we also realized that it is genetic. So if we have another child, there is a chance. When Noah was born, the first thing we worried about was just was he going to make it?”

“He came so early,” added John. “It was scary.”

Noah was soon diagnosed with ectodermal dysplasia by the same geneticists at MUSC that cared for Kobe. In his case, it was a deleted gene that caused the condition (something they suspect may also be the case for Kobe). John and Linda worked through a year and a half of breathing issues with Noah that kept them on edge at times.

“We had to hit his back gently, to break up the mucus so he could breathe,” recalled John. “It was a struggle. The energy that he has now really brought him through that period of his life, because he’s a strong kid.”

Kobe is quick to offer a much simpler version of what got the boys through their trying times as infants.

“Both of us saw death when we were babies and we said ‘Nah, I’m good!”

So the family has learned to embrace their new normal, coping on a daily basis with the challenges presented by ectodermal dysplasia. The boys cannot overheat, because their bodies are unable to sweat. To keep cool, they enjoy outings to the pool or beach. They wear wet t-shirts, use water spray misters, or employ small battery-operated fans to maintain a healthy temperature when outside. Even a walk across the Publix parking lot in the summer sun can be difficult.

“There are many different facets to this,” said John. “Of greatest concern is staying cool. Neither Kobe or Noah can sweat. Period. So therefore they cannot cool their bodies on their own.”

Overheating can happen very quickly and can be life-threatening.

“It’s a deadly, deadly thing,” added John.

“Basically, we just have to stay cool,” explained Kobe. “Follow the same tips that you might do with a chocolate bar!”

Both of the boys’ schools have been informed about their condition and have plans in place for handling emergencies. But there is still a learning curve, said Linda, such as the time when Kobe started heating up during a fire drill while a student at Daniel Island School.

“He said ‘I’m hot’ and the teacher was like “We’re all hot!’” recalled Linda. “She didn’t understand. But he was old enough that he just went to the next teacher. He found the right one.”

“And the students knew him, too,” said John. “And they explained what was going on. That’s the great thing about Daniel Island - the people that have been in the school with Kobe and know him, know he has ectodermal dysplasia.” 


The fact that many in the community are familiar with the boys also helps curb bullying, said Linda.

“They’ve been here all their lives,” she continued. “So they’ve grown up with the kids here.”

“The kids here are really, really good,” added John. “It’s been nothing but a positive experience.”

Why live in a climate as hot as South Carolina when coping with ectodermal dysplasia? For the Pellenz family, it makes perfect sense. “Everything here is prepared for it to be hot,” Linda responded. “All of the schools are air conditioned, the shops, the churches, everything. Everywhere you go, there are going to be fountains. We’re more prepared for the heat here, whereas if you lived in New York, for example, a lot of the schools are still not air conditioned!”

In addition to staying cool, the boys also continue to deal with congestion and thickened mucus.

“With Noah, it will build up so badly and it will puff out,” said John. “You can see it just by looking at him. Trying to get it out can be difficult.”

Patients with ectodermal dysplasia also typically have pointed teeth that grow erratically, which can present challenges with eating and speech. Kobe is on his third set of dentures, but he admits they aren’t always comfortable and he doesn’t enjoy wearing them. Plus, they come with a hefty price tag - about $10,000 to $15,000 for each set. Implants are the next step for Kobe. In addition, both boys are autistic. Kobe has Asperger’s Syndrome, while Noah has autism.

Although there is no cure for ectodermal dysplasia, patients can learn to live relatively comfortably with the disease, provided they take the necessary precautions.

“It takes lots of planning to go places, but we do,” said Linda.

While Kobe is very introverted and enjoys his individualism, Noah is more outgoing, energetic and sporty, according to his parents. Noah also enjoys riding his bike and putting together lego sets. He’s even taking surfing lessons, something his brother is considering as well. Kobe on the other hand loves spending time indoors working on computers, a hobby that has led to the development of an impressive technology skill set.

“When he was eight years old, I came home from work one night…and I went to get on my computer to do some more work and he had reformatted the hard drive and installed a new operating system!” recalled John. “Part of me was angry…but then the other side was like, ‘Wow!” he can do things like this?”

So good are Kobe’s computer talents, in fact, that he recently won a business and technology award at Bishop England. He also loves listening to music, particularly Pink Floyd.

“While most people are singing along to a Justin Bieber song, I’m singing along to a Pink Floyd song from 1971!” said Kobe.

“He’s always been considered more of an old soul,” added Linda.

Perhaps it should come as no surprise that one of Kobe’s favorite lines comes from the song “Breathe,” the second track on Pink Floyd’s Dark Side of the Moon album.

“Look around, choose your own ground,” he said, repeating the lyric.

And in an instant, you know that he is comfortable with exactly where he’s landed. Because this special teen and his younger brother have learned that “normal” is just a word that describes something that is typical, standard, or ordinary. For Kobe and Noah, living an extraordinary life is a far better goal.

“Quite honestly we really ‘don’t sweat the small stuff,’ added Linda, acknowledging her intended pun with a smile. “My children face so many obstacles in life, however, they are here to face them. Many of the families that we met in the NICU and PICU at MUSC did not get to bring their babies home like we did…Life is tough for Kobe and Noah, but it is the life they have been given and they are going to live it to its fullest.”