MEADVILLE — Matthew Beightol was enjoying one of the best volleyball matches of his career against one of the state’s premier teams.

He was energetic and enthusiastic. It was the type of performance in a big-time match the Maplewood senior had been looking for since his freshman season. But midway through the second game, Beightol’s demeanor changed.

He began talking to himself and walking in circles around the court. His skin turned nearly transparent, his breaths louder and labored, and his arms and face went numb. The excitement and energy he had shown just minutes before was gone.

His father, Monte, thought it might be the moment he and his wife, Tammy, had feared since the week before Christmas in 1992.

Matthew suffers from a genetic disorder known as hypohidrotic ectodermal dysplasia, a birth defect that effects the skin, hair, teeth, nails and sweat glands to a variable degree.

In Matthew’s case, the disorder also prevents his ability to sweat, a means for regulating the body’s temperature and controlling the risk of heat exhaustion or heat stroke. And on that warm, humid day at Meadville Area High School, Matthew nearly paid the price.

“He had tears in his eyes,” Monte said. “I knew there was something wrong. I thought that was it. I thought he had gone too far. ... I just thought he had gone too far.”



The diagnosis

Monte and his wife, Tammy, welcomed Matthew, their third child, into the world on April 9, 1992.

Within hours of his birth, a team of doctors at Titusville Area Hospital determined Matthew was suffering from pneumothorax, known more commonly as a collapsed lung. The condition made it difficult for the infant to breathe and resulted in his transfer by helicopter to Hamot Medical Center at a mere seven hours old.

Matthew spent a week at Hamot receiving treatment for the collapsed lung before going home for the first time. But just days later, he was flown back to Erie with aspiration pneumonia, caused by breathing in foreign material, like foods, vomit or fluids from the mouth.

“He had aspiration pneumonia several times,” Tammy said. “We were at our pediatrician in Oil City weekly.”

The only thing doctors could point to as a possible cause was the tightly-wrapped blanket they often had Matthew nuzzled in as they had done with their two oldest children, Chris and Rebecca.

They thought the blanket was causing Matthew to become too warm, which then made it difficult for him to breathe.

“You’re always told to keep babies wrapped up tight in blankets,” Monte said. “But apparently we were wrapping him too tight before we knew what was wrong and were causing him to go into respiratory distress.”

It was the week before his first Christmas, and just nine months after Matthew’s birth, that the search for a real cause intensified. Matthew was at his family doctor in Oil City with another bout of pneumonia when the doctor decided to have him transferred to the Neonatal Intensive Care Unit at Children’s Hospital of Pittsburgh. Once there, doctors determined it was possible Matthew was suffering from a hole between his trachea and esophagus, resulting in the numerous cases of aspiration pneumonia.

“They were going to go in and repair that with surgery,” Monte said. “We went ahead and met with an ear, nose and throat doctor to have them take a look before they went in. And there wasn’t a hole there. So we were back at zero.”

“I just remember thinking, ‘What is it? What is it? What could it be?,’ ” Tammy said. “Something just wasn’t right.”

That’s when Monte remembered what might seem to many as a minor detail in his son’s struggles with pneumonia. Monte never recalled his son sweating when he broke a fever.

“I said, ‘I may be a dirt-old farmer from Franklin, but why?’ ” Monte asked. “He had several fevers as a baby. But he never sweat.

“We talked to a lot of different doctors and things would be brought up. There we were in a room with a bunch of doctors and finally I said, ‘In all the times Matthew had a fever, he never broke a fever sweat. Never.’ Right then one of the doctors in the room said, ‘I bet he has …’ and rambled off this long name.

“(Tammy and I) just looked at each other and we said, ‘What’s that?’ ”

“We had no idea what it was,” Tammy said. “But finally we had a name, hypohidrotic ectodermal dysplasia.”



Learning to cope

The Beightols may have finally had a name to associate with their son’s condition, but the real challenge was just beginning.

There are approximately 150 types of ectodermal dysplasia in humans. Hypohidrotic is considered the most common and affects at least one in 17,000 people worldwide. But symptoms in each case aren’t always the same.

Most patients tend to have little hair and what hair they do have is light-colored, brittle and slow-growing. Some also have missing teeth, or teeth that are malformed, and distinctive facial features including a prominent forehead, thick lips and a flattened bridge of the nose.

Their skin is also oftentimes very thin and wrinkled, and they may have dark-colored skin around the eyes and chronic skin problems.

All are noticeable attributes of the now 18-year-old Titusville resident. But it’s a symptom that isn’t so noticeable that can lead to the most dangerous circumstances for a HED patient, as it nearly did with Matthew during a varsity boys volleyball match back on April 15.

“He can’t sweat,” Monte said.

Sweating is a major way the human body controls its temperature. And the inability to do so can lead to dangerously high body temperature and can cause life-threatening medical problems like hyperthermia. It can lead to heat exhaustion and heat stroke.

Simple treatment, right? Limit Matthew’s activity and keep him in cool climate. But the word ‘no’ has never been an option for the naturally gifted athlete.

“They said the older and bigger he got, the harder it would be,” Tammy said. “But everything he has ever wanted to do, we’ve never said, ‘No.’ We’d just soak him down. We’d travel with towels in ice chests full of ice.

“He played junior high football, grade school basketball. He plays soccer, volleyball. We never said, ‘No, you can’t do that.’ We let him do it. Since he was a toddler, he’s known his limits. And we have to trust that he’ll tell us when he’s reached his limits.”

A starter on the state-ranked Maplewood boys volleyball team, though, Matthew, who takes no medication for the condition, is finding it increasingly more difficult to tell anyone when he’s reached that limit. His competitive nature won’t allow it, he says.

“I know I’m not letting the team down, but in a way that’s the way I see it,” he said. “It’s my competitive nature. It’s gotten a lot harder to say, ‘Whoa.’ ”



One scary night

A senior in his last season as a high school athlete, Matthew has admittedly pushed himself harder this season than any other. And on the volleyball court, the work has paid its dividends.

Not only has it helped lead the Tigers, the 2009 state runner-ups, to a fourth-place ranking in the state in Class AA by the Pennsylvania Volleyball Coaches Association, but it’s made him one of the go-to hitters on the squad. But as 20-plus year coaching veteran Sheila Bancroft has learned, all of that is far less important than a person’s life.

“Sometimes when a kid tweaks an ankle, I’m thinking, ‘Just walk it off, you’ll be OK,’ ” Bancroft said. “That’s the competitiveness in me. I think I’m a little too hard at times. But with this situation, there is no second-guessing. You’ll take a loss before you’ll take a win in this situation. It’s reality.

“You have to be realistic about the whole thing. Life is so much more important than the game of volleyball.”

The key is convincing Matthew of that.

Right now, Matthew, who plays across the front row and one rotation in the back row, deals with it like he has his entire life. If he gets too hot on the court, he waits until a time-out or until it’s time for him to be substituted out of the backrow, and then does what he has to to cool down. That can include putting ice cold towels on top of his head, stepping outside for air or covering himself with water from the battery-operated fan water sprayer he carries with him. Anything to make him comfortable and cool.

“I get short of breath and it becomes harder for me to calm myself down,” Matthew said. “I’m gasping, trying to get air and get short of breath. It’s kind of like I’m in a sauna. It feels like I’m trapped in a heat box and can’t get out of my skin.”

Against Meadville, Matthew didn’t wait for a timeout or a substitution. He asked to come out.

“When I saw him going out and saw him really trying to get his breath, it was scary,” said Monte, who along with his wife, Tammy, rushed to Matthew’s aid outside of the gymnasium. “Then he said he couldn’t breathe. I’m trying to tell him to settle down and relax.”

Monte, Tammy and the staff from Crawford County Sports Medicine attended to Matthew, and Monte began throwing buckets of ice onto his son’s back; enough ice that Monte said would have caused him to have a heart attack. But it melted off Matthew’s back as quickly as he threw it on.

“He’ll sit there at times and say, ‘I think you could cook a hot dog or a marshmallow on my leg right now,’ ” Bancroft said. “It’s like he’s on fire. I don’t know how he does it. I don’t understand. No one understands, but him.

“I know when I get hot and sweaty, I can get rid of that; I can cool myself down. But imagine running and working and all of a sudden your body starts boiling. You’d probably just collapse.”

It’s trusting in Matthew to say enough is enough that keeps everyone going.

“He’s the one who has to make the decision,” Bancroft said. “He’s the only one who knows how far he can go and how he feels. So I have to trust that. Sometimes he does push himself too far. But there is no game or no sport out there that is worth pushing him to the limit.

“You have to consider his health. He would go until he fell over on the floor. That’s the kind of kid he is. He never uses it as an excuse. He’s a very hard worker. He’s a motivator. It’s a different team when he’s out there on the floor, without a question. You wish you could have more kids who are able to work through the adversity he has to.”

Maplewood High School is doing all it can to help Matthew through the season. Bancroft said she was approached by school administrators about either purchasing or having a fan available that the team could take with them to other schools to keep Matthew cool when he is off the court. Principal Mike Henegan did pull out an industrial-sized fan for Matthew during Maplewood’s home match with Cochranton on May 4.

Matthew took advantage and sat under the fan during breaks. But when a fan is not available, he relies on his handheld fan, coolers full of ice and common sense to stop when it gets to be too much.

“I think it’s been more difficult lately, because he’s at this age where, ‘I can do this,’ ” Tammy said. “You sit over on the bleachers, the soccer fields, and all you can do is watch. It’s hard when you know he’s reached that limit and he doesn’t do anything about it. It’s real hard.

“We just have to trust him.”



You can help

To support the National Foundation for Ectodermal Dysplasias family services and education efforts, visit nfed.org. According to the foundation, 86 cents of every dollar raised is spent on support, research and treatment.

Lisa Byers can be reached at 724-6370 or by e-mail at lbyers@meadvilletribune.com.