The American Porphyria Foundation has a section on its website dedicated to telling patient stories.
It gives voice to people’s experiences and allows them to connect with others and share accomplishments.
One of these touching stories is about young Nora, who lives with Erythropoietic Protoporphyria.
It all began when Nora was three. Instead of running about and playing in parks while soaking up the summer sun like many other toddlers, Nora would cry out in pain and retreat for shade whenever outside. She would always complain that her hands itch even though there were no visible signs of a rash. In fact, there were no signs of any swelling or marks on Nora’s body.
Nora’s parents visited several doctors. Each doctor suggested the parents try different solutions, such as allergy medicines and ointment for Nora’s intolerance to the sun. Nothing worked! The only thing that even slightly helped Nora’s condition, according to her parents, is Benadryl. And that’s mostly because it made Nora very sleepy.
One summer at a pool party when Nora was a few years older, her situation hit a breaking point. Nora’s parents knew they had to seek serious help and get some answers for their daughter.
Instead of running around with the other kids at the pool party, Nora tried to hide in the shade and eventually begged her mother to leave! Later that summer, a triangle shaped lesion grew on Nora’s nose. The purple lesion alarmed her parents, who took her to see an on-call pediatrician. Fortunately, the doctor had some knowledge of the symptoms and was able to diagnose it as EPP.
Erythropoietic Protoporphyria (EPP) is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma. The result is sensitivity to visible light that’s usually noticed in early childhood and occurs throughout life. Read more here.
The pediatrician referred Nora’s parents to the APF website which has become a great resource for them over the past two years.
Now, the family is so grateful to finally have a diagnosis after years of uncertainty, confusion, and discomfort for Nora. Through the APF website, they found Lumitene, which has been a significant tool for helping their daughter prepare for the heat of the summer sun.
Nora now enjoys a more balanced and educated life about her condition. She attends a small private school that accommodates her condition. And although she does not do summer sports or outdoor camps, Nora is able now able to independently determine what is too much sun for her. Her life has improved significantly since finding a diagnosis and the APF website.
Read more about Nora here on the APF website.
