Why I Prefer the Cloudy Days With Porphyria
Usually, when someone wins a lottery against high odds, it’s a good thing. Perhaps they win cash, a holiday vacation, or a special prize. In my case, the prize was a rare disease known as porphyria cutanea tarda, otherwise known as PCT. While the odds differ depending on which research is conducting the census, it is widely thought that approximately one in 10,000 people have PCT.
Obtaining a diagnosis of PCT can be difficult, often requiring visits to various medical specialists, most commonly dermatologists, hematologists, geneticists and general practitioners. There are multiple types of porphyrias that exist due to the metabolic and sometimes genetic factors involved. These components play a key role along the pathway that involve certain DNA markers and the synthesis of of heme. Additionally, some medical conditions can bring upon the onset of PCT, such as hepatitis C. Needless to say, it only gets more complicated from there. Technically speaking, porphyria that is not brought about by another underlying medical condition is generally considered to be an inherited metabolic disease that affects the synthesis of heme, which is crucial to the metabolic stability of the human body.
In my case, PCT makes it nearly impossible for me to be in the presence of UV light, which of course most people get from sunlight. I have notable dark pigmentation on my hands and face, blister in sunlight even with the application of sunscreen, and an immense amount of hair that grows rapidly wherever it chooses. To research it online, old myths about vampires and new breakthroughs by medical science can be found side by side.
Living with PCT is a daily challenge, one that requires me to adjust my schedule, what time of day I run common errands, watching the foods I eat carefully and mindfully, and attending ongoing medical appointments. Through all of this, it’s been important to me to be an advocate for those who have rare diseases and to maintain a sense of humor. Humor, for me, is both therapeutic and can be a tool that changes my perspective.
Laboratories, as well as many physicians, are unfamiliar with treating such a rare disease and some may go their whole medical career without having a porphyria patient. Personally, I think it’s important to be a self-advocate as well as being a person who keeps an open mind as these professionals learn alongside me. We work as a team to achieve the best results, whether that be my emotional or my physical well-being. Diagnosis is a lengthy process as proper confirmation is sought, and maintaining a line of communication and dialogue can go a long way. I am fortunate to have a wonderful hematologist who is familiar with the different types of porphyrias and she is always working to learn about the best treatments so that I can feel better. I am the only porphyria patient currently that she has, and she took the initiative to inform the staff and their on-site lab as to the correct procedures for addressing someone with my needs.
I believe that anyone living with, or caring for a patient who has a rare medical disease can go through quite a lot emotionally. There are good days and bad days. I hide from the summer sunshine as so many vacation at the beach, and I relish cloudy or rainy days. My house is decorated in special UV-blocking curtains and I do my grocery shopping after the sun goes down.
Knowing that my condition requires me to construct my life carefully, I chose to see a licensed clinical therapist who uses dim lighting in order to have a safe place in which to express my personal anxieties. It has worked wonders. Not only do they help me prioritize my concerns, but sometimes you just need a listening ear and a friendly face.
For me, sharing my experiences and how I manage life with PCT –including humor –is an act of advocacy for myself, others like me, and those who are an integral part of caring for someone living with porphyria.