The story of Amanda
My name is Amanda Boston and I am 27 years old. When I was 24 I started having abdominal pain and a rash on my hands, chest and face. I went to dermatologists and emergency rooms when the pain got real bad. In March of 2012 I was admitted because my kidneys were failing and I was unable to walk at all. From there, I was misdiagnosed with something called Guillian Barrae Syndrome. They started me on plasmapheresis to treat it but since this was a misdiagnosis it paralyzed me from the nose down. The doctors were baffled. They didn’t know what to think. But finally in June of 2012 a resident doctor brought up a rare metabolic disorder called Veriegate Porphyria. It causes such symptoms as rashes on hands, face and chest, severe abdominal pain, seizures, hullucinations, purple or dark urine, headaches, body aches, weakness or tingling in arms and legs, and neurological symptoms. They tested me for it and it came back positive. I was then giving the only treatment besides a diet rich in carbohydrates called Panhematin. I slowly began to feel my legs, then my arms and hands and everything. But I still had a long road ahead of me. I was hospitalized for eight straight months then was released to my parents. I continued and still continue to receive my treatment of Panhematin weekly. It is infused through a port in my chest. I started physical and occupational therapy outside of the hospital and am progressively getting stronger. I went from using a wheelchair, then a walker, then a cane, now I walk without assistance. I am even driving again. I never thought all of this would happen to me but I was able to turn a bad thing into a good thing by participating in research. I have been flown to Texas twice to participate in two different studies, the Panhematin study then here recently to participate in the Anylam study. There is currently no cure for porphyria but I am hopeful that by participating in research a cure will be found.