JT von Seggern knows how to deal with pain and adversity. He has lived with it every day by just walking outside into the sunshine. JT suffers from Erythropoietic Protoporphyria (EPP), a rare and potentially life threatening disease. There is no cure for EPP and currently in the US, there are no effective treatments.

“Imagine sitting in your college quantum physics class, trying to stay focused on your exam, while your hands feel like they are continually being stung by bees, and someone is pouring boiling oil on your neck. That is what it is like for our son”, said Gayle von Seggern. “Now imagine playing tennis outside in the most competitive environment. I’m amazed at his courage and resolve.”

A FOUR YEAR LETTER WINNER at Langley High School, JT was twice a State finalist. He was recruited out of high school to play at Randolph College and was named MVP of the team his freshman year and as a sophomore was named to the All-ODAC tennis team – a first in Randolph history. All of this with zero protection from the sun.

JT had experienced years in pain: wringing his hands and crying in pain for no apparent reason while he was a toddler, swelling of his hands, forearms and face, swelling in his feet so extreme that the blood vessels in his feet ruptured and was rushed to the doctors, as well as painful scabby sores on his nose, lips, cheeks, neck and ears. His parents actively searched for the cause of such pain. They went to numerous dermatologists, several pediatricians, Johns Hopkins, all to no avail. Finally, when JT was in fourth grade a doctor at Georgetown University Hospital recommended a pediatric dermatologist. By that time his parents had assembled a three ring binder of pictures of all of the episodes, swelling, scabs,scars, etc. Dr. Silverman took one look at the binder and uttered the words that are forever seared in his parents’ memory: “I think I know what your son has”. Mere words could not express how the family felt finally knowing what was causing JT such pain. Tests later came back positive for EPP.

While this new knowledge gave the family an arsenal of information about how to keep JT from being in pain, JT quickly learned that his sports loving life would be forever altered. At the time, JT was playing both baseball and soccer. Knowing that he could only bear limited exposure to UV light, one of the outdoor sports had to go. JT dressed in sun protective clothing as much as possible, which allowed him to continue playing soccer. Most other normal childhood activities were challenging at best. Family trips to the beach meant JT had to stay inside until sunset, golfing with his grandfather could only happen in the very late afternoon and he had to wear protective clothing, and his new passion, tennis, had to be played indoors. Even trips to amusement parks were challenging and usually left JT in pain. Class field trips to anywhere outside usually ended with JT in pain and missing school for a few days while recovering.

While JT has handled this burden remarkably well, it has definitely made an impact in his quality of life and his psyche. All activities that are normally associated with pleasure -- picnics, hikes, fishing, parks, sport -- are a source of pain for JT. While playing in the State tennis tournament in high school, Dr. Silverman remarked, “I don’t know how JT got through States, his ability to push through the pain is nothing short of incredible.”

MIRACULOUSLY, there is now a drug, manufactured by Clinuvel, called Scenesse that is the first drug to treat patients with EPP. Scenesse provides EPP patients with their first taste of normalcy. Unfortunately for JT, and the approximately 500 other EPP patients in the U.S., Scenesse is not available in the U.S. The first phase II study of Scenesse was conducted in Switzerland in 2006. Since that time, there have been successful trials in the U.S. in 2010 but the FDA has not yet approved the drug for use in the U.S., although hopefully, that will happen in the next few years.

When John and Gayle asked JT about being treated with Scenesse, JT indicated that he thought it was too expensive. When they asked him if he could imagine going to school in the fall and not being in pain, he said, “No mom, I cannot even imagine that”. As every parent out there knows, they could not bear to have JT continue in pain when they knew there was relief for him. The von Seggerns feel incredibly blessed to have found a doctor in Switzerland who is treating JT with the drug starting last August. He will hopefully receive the implantation of Scenesse every 2 to 3 months.

While traveling to Switzerland every few months for medical treatment may seem extreme, it is JT’s only option to live pain free until the drug is approved in the U.S.

“Despite this disease that JT has had to live with his entire life, with no cure in sight and no treatments in the U.S., JT has fought his way through each and every painful exposure,” says Gayle. “He has refused to let EPP define him or destroy who he is – an athlete and an incredible young man just trying to live his life like the rest of us.”