TOPEKA (KSNT)- Just looking at Sian Ball you would never think she is any different than any other 10-year-old.
The Topeka girl plays on her scooter inside her home, roller blades inside her home, “I just pretty much stay inside my whole life,” Ball said.
Not by choice, but because of a condition she was born with, “Erythropoietic protoporphyria, in short, EPP,” Kim Merrill, Siam’s mother said.
Not only hard to pronounce, but extremely rare, and there is no cure. Doctors aren’t sure exactly how many people have the condition in the U.S., but it’s probably only a few hundred.
Even Dr. Harold Parr, a pediatrician, at Stormont Vail HealthCare’s Pediatric clinic said when he first started seeing Ball, he had to go look up her condition, “I studied it in medical school, but I wanted to refresh because this is somebody I have to actually take care of.”
Ball is Dr. Parr’s first patient to have EPP, he said even just a little exposure to light, even bright indoor light, can make her have an attack, “It burns super bad,” Ball said.
EPP is a deep tissue burn, so it’s more painful than a sunburn, it’s not just sunlight or even the summer when she has to be cautious, “There is no rhyme or reason, she could walk by the window, and the next day, we have an attack,” Merrill said.
And when Sian is having an attack there is no medicine to make it stop, only things that she can do to make herself feel comfortable, like sitting in cold baths, “She’ll literally sits in the cold bathtub, I mean we are like filling it up, draining it, filling it up, draining it,” Merrill said.
Altering her wardrobe too, “Her attire is always long pants, if she’s got a short sleeve shirt she’s got a jacket over her,” Merrill said.
Recently Sian’s mother got a little hope. The House of Representatives said yes to H.R.6, a 21st century Cure Act that pushed the FDA to research diseases like EPP, “The H.R.6 is supposed to help us, and help the drug company get the medication out there,” Merrill said.
Because of Sian’s condition her mother also has to keep her vehicles tinted. However, Kansas law prevents hers from tinting all the windows in her car, so she still gets exposed. She hopes more awareness about the condition will make the state reconsider its laws on tinted windows for those with conditions like her daughter.