Craig Leppert never went outside for a fire drill in grade school.

“I would go as far as I could to the entrance of the building and in the hallway and just look at everybody lined up,” Craig said. “I would just wait there and then they would say, ‘’Everybody come back inside,’ and I would be the nice little cute boy who held the door open for everybody as they went in.”

Craig, a freshman television, radio and film major, has erythropoietic protoporphyria, a form of a rare genetic condition that makes him sensitive to visible light. Sun exposure results in swelling, burning, itching and redness of the skin — a feeling Craig compares to having hot wax being poured over him. The National Institutes of Health estimates one in 500 people worldwide have a form of porphyria.

Craig experienced symptoms of EPP at 18 months, but he was not diagnosed until age 5. He acted hysterically at 18 months old when his mother took him to the community pool in his home in Maryland.

“We were there maybe 15 minutes and he just started to scream like something had happened to him, but I was right in front of him and didn’t see anything happen to him,” said Tracy Leppert, Craig’s mother.

Craig did not appear sunburnt but clawed at his face and hands.

“I woke up the next day and my hands looked like little boxing gloves and my face was all distorted,” he said.

Doctors initially thought Craig was allergic to chlorine. A blood test performed by EPP specialist Dr. Micheline Mathews-Roth verified Craig had EPP. Craig has taken on raising awareness of the various types of porphyria in college. He spoke in most of his classes during National Porphyria Awareness week April 17 through 24 after hearing about Colton Blake, a 2-year-old with severe liver trouble because of complications with EPP.

“That just kind of hit me home because I remember being young, not that young, and really being upset because you aren’t what you see with your friends. You don’t get to do what your other family members do,” Craig said. “So any opportunity for that young kid to avoid that, I will go to the ends of the earth for.”

Craig’s hope to help others with EPP is now becoming reality. He is part of the second set of clinical trials of Afamelanotide, a new drug from Australia’s Clinuvel Pharmacies that was FDA approved March 29. A dissolving implant is inserted into the abdomen and releases the drug over two weeks to increase levels of melanin in the skin to help shield against UV radiation and sunlight via an abdominal implant roughly the size of a grain of rice. Craig will start testing at the Mount Sinai School of Medicine, likely at the end of May.

Craig said he tries to remain lighthearted, but dealing with EPP in college can be hard because new people do not always understand immediately.

A typical outfit for Leppert is a hooded sweatshirt, hat, long pants and his medical alert necklace. He wears his hat low, keeps his hands in his pockets and jumps from shadow to shadow when he walks outside. He has never worn sandals, despite being born in Hawaii and currently living down the road from the Jersey Shore.

Craig said growing up he learned through trial and error what limits he had to cope with. If he wanted to attend a pool party, he came after dark. He was a captain and All-Conference football player in high school but wore two Under Armor turtlenecks, a cutoff ski mask, tinted visor and gloves with his uniform.

Craig uses titanium zinc oxide sunscreen and goes to a tanning booth in the summer to darken his skin, which helps build a resistance to visible light.

The disease has left Craig with a lot of alone time, and he frequently is awake late at night or early in the morning.

“I talk to myself a lot because when you get burned, you’re up all night and you’re all alone a lot of times,” Craig said. “I cope a lot by talking to myself and I talk to God a lot. I’m not really religious because of it because it’s not always a good conversation.”

Michael Leppert, Craig’s father, said he did not see any negative ramifications for his son’s participation in the study. “It’s pretty significant that he could be outside having a normal life for two hours in the sun,” he said.

But Tracy, his mother, said she is a little hesitant about the study but knows it could be a big improvement in dealing with EPP.

“Just seeing them going through the pain that they have to go through probably for about three to four days until it’s over, that’s the hard part because, really, there is nothing you can do for them,” she said about helping those with EPP. One of her daughters, 15, also has the condition.

Craig tried a beta-carotene treatment, currently the most popular EPP medication, but was unhappy with the effectiveness. Beta-carotene, a product naturally found in green plants, neutralizes the chemical reaction in the body that creates the itching and pain associated with EPP.

Mathews-Roth, the doctor who diagnosed Craig, was involved with his case when he was a child and is now an EPP expert at Harvard University. She has been studying EPP since the mid-1970s and said she is hopeful for the new trial. Both she and Craig were concerned about the injection process.

“I’ve got to admit, for me, I don’t happen to like needles and I’m a doctor. I don’t like needles and I would find that rather unpleasant,” Mathews-Roth said. “But it’s worth a try.”

Despite the complications EPP has brought to his life, Leppert has tried to be as active as possible and does not see it as a limitation.

“I just take it as something that unfortunately is a big part of my life, but I can work around it,” Leppert said. “I can work at night.”

Published on April 25, 2010 at 12:00 pm

Contact Dara: dkmcbrid@syr.edu | @daramcbride