Lindsay woman with rare condition looks forward to starting new chapter of her life
Ever heard of porphyria (por-FEAR-e-uh)? Or maybe a specific kind of it, erythropoietic protoporphyria (EPP)? Me neither. In fact, some doctors have not heard of it and even disbelieved Lindsay resident Megan Nicholas when she told them she felt like she was burning up, despite no outward symptoms.
Along with her family, Megan, who has lived with the condition her whole life, has had to endure accusations, isolation and disadvantages that few do. But now the 19-year-old is part of a medical trial nearing completion that could offer a breakthrough for her and others facing the same issue.
Porphyria is a rare group of disorders that disrupt the chemical steps to the production of a substance called heme, which is vital for all the body’s organs. Only about one in 74,000 is diagnosed with the EPP disorder Megan has; hers primarily affects the skin.
“When I go out in the sun,” Megan explained, “my skin will start to feel like it’s burning, I’ll get itchy, my skin gets red, and it gets hot to the touch. I also get blood clusters, like little red blotches. Usually my hands and feet are the first to feel the effect of the sun, and the effects can last for 12 hours to even a few days.”
EPP causes sensitivity to the point where even sunlight that passes through window glass or sunlight during a cold winter can cause a reaction. Megan told the Advocate she at least has been lucky to have friends who stick by her, including a best friend who would stay in with her for recess at school and always understood when she would have to head inside, but the rest of the world has not been as kind.
Joye Daniels, Megan’s grandmother, recalled one doctor telling Megan she needed psychiatric help. “It was devastating,” said Joye.
Megan’s mother, Robyn Mathe, had to fight to ensure her daughter could stay in for recess when necessary, too.
“There have been times my mom and I have gone to the zoo,” said Megan, “and we’d have to go on the days it was cloudy. There has never been any planning on it. It’s more like, ‘Okay, it’s cloudy right now, let’s go right now.’”
About a year and a half ago they noticed a social media post from the American Porphyria Foundation, noting a scientific trial was underway to develop a new medicine. COVID delayed things but two phases were completed in the U.S., with good results. Megan — one of only 10 Canadians — has been participating in the third and final trial before the new medicine is sent for approval.
Twice now Megan and her mother have visited the Kaye Edmonton Clinic in Alberta’s capital as part of the trial. When she returned home with the new pills, she learned to keep a log every time she went out into the sun. The family hopes to hear soon about the trial results.
This fall, Megan is going to Fleming College in Peterborough for a three-year program in child and youth care. As she nears this next chapter in her life, she may have not only helped herself, but others like her who have endured a challenging disorder for so long.
