JT's Medical Fund
Donation protected
Bearing the burden of the painful and potentially life threatening effects of UV rays
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, JT who 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.
JT 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 we had to rush him to the doctor, as well as painful scabby sores on his nose, lips, cheeks, neck and ears. As parents, we actively searched for the cause of such pain. We 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 we had assembled a three ring binder of pictures of all of the episodes, swelling, scabs, scars, etc. Dr. Silverman took one look at our binder and uttered the words that are forever seared in my memory, “I think I know what your son has”. Mere words could not express how we felt finally knowing what was causing JT such pain. The test to confirm EPP is very specialized and a nurse from John Hopkins came to our home to draw the blood in a special covered syringe and tube so JT’s blood would not be exposed to any UV light. The sample was then flown to Mayo Clinic where the final portion of the test was performed. The test came back positive for EPP.
While this new knowledge gave us an arsenal of information about how to keep JT from being in pain, we quickly learned that our sports loving child’s 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. We were able to keep JT 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 must 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 impacted his quality of life and his psyche. All activities that are normally associated with pleasure: picnics, hikes, fishing, parks, sports…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.” Nobody should have to accept that debilitating pain is part of a normal life.
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 FDA has not yet approved the drug for use in the U.S., although hopefully, that will happen in the next few years. For JT, who is now a competitive tennis player for his college tennis team and working toward his degree in physics, he is in need of treatment now.
When we asked JT about being treated with Scenesse, JT indicated that he thought it was too expensive. When I 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, we cannot bear to have JT continue in pain when we know there is relief for him. We are incredibly blessed to have found a doctor in Switzerland who will be treating JT with the drug starting in August. He will receive the implantation of Scenesse every 2-3 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 U.S. approves the use of Scenesse.
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, JT who 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.
JT 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 we had to rush him to the doctor, as well as painful scabby sores on his nose, lips, cheeks, neck and ears. As parents, we actively searched for the cause of such pain. We 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 we had assembled a three ring binder of pictures of all of the episodes, swelling, scabs, scars, etc. Dr. Silverman took one look at our binder and uttered the words that are forever seared in my memory, “I think I know what your son has”. Mere words could not express how we felt finally knowing what was causing JT such pain. The test to confirm EPP is very specialized and a nurse from John Hopkins came to our home to draw the blood in a special covered syringe and tube so JT’s blood would not be exposed to any UV light. The sample was then flown to Mayo Clinic where the final portion of the test was performed. The test came back positive for EPP.
While this new knowledge gave us an arsenal of information about how to keep JT from being in pain, we quickly learned that our sports loving child’s 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. We were able to keep JT 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 must 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 impacted his quality of life and his psyche. All activities that are normally associated with pleasure: picnics, hikes, fishing, parks, sports…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.” Nobody should have to accept that debilitating pain is part of a normal life.
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 FDA has not yet approved the drug for use in the U.S., although hopefully, that will happen in the next few years. For JT, who is now a competitive tennis player for his college tennis team and working toward his degree in physics, he is in need of treatment now.
When we asked JT about being treated with Scenesse, JT indicated that he thought it was too expensive. When I 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, we cannot bear to have JT continue in pain when we know there is relief for him. We are incredibly blessed to have found a doctor in Switzerland who will be treating JT with the drug starting in August. He will receive the implantation of Scenesse every 2-3 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 U.S. approves the use of Scenesse.
Organizer
Gayle von Seggern
Organizer
Belleview, VA
