Erythropoietic Protoporphyria (EPP)
Sian Ball is a young woman who has exemplified courage her entire life despite facing numerous severe health challenges, including EPP. Sian was born with a heart condition that caused shortness of breath, exhaustion, etc. followed by hearing loss at age three.
At the age of four, Sian was diagnosed with EPP. Her diagnosis came about when after a long day at Six Flags, Sian began screaming in pain. The family headed home immediately. Sian screamed the entire 5-hour drive home where they sought medical attention. The poor child was enduring the searing pain of EPP but no one knew the source of the pain. One nurse even said, “She is just making up this pain.”
Imagine how Sian’s mother, Kimberly Merril felt when hearing such an inane accusation about a three year old child.
Kimberly began searching the internet and finally read a blog by a mother in Europe and knew immediately that she had found Sian’s diagnosis. Sian is an adult now and has even participated in trials and will be receiving treatment soon.
Her next diagnosis was erythema nodosum which is a painful disorder characterized by tender bumps (nodules) under the skin and severe bruising. Later she was diagnosed with Addison Disease also called adrenal insufficiency, which is an uncommon illness that occurs when the body doesn't make enough of certain hormones. In Addison's disease, the adrenal glands make too little cortisol and, often, too little of another hormone, aldosterone.
If there were not enough to deal with, Sian recently discovered a breast tumor. At present, it is being tested to determine if it is benign or not. Despite all of these health challenges, Sian maintains her Brave, hopeful, positive attitude. She is an example for all people to follow no matter the challenge or problem. Sian is now in college majoring in Psychology, a perfect field for someone who has handled well the far too many challenges.
Thankfully, her mom, Kimberly lovingly assists Sian and fights the good fight with her. Plus, she has a particularly wonderful Friend, Ariana, who understands her illnesses is willing to accommodate Sian’s EPP into their activities. Life with EPP and other porphyrias can be extremely isolating. Thank God for friends like Ariana. Thank you, Sian, for sharing your life with us.