“I thought it would be an easy road to good health now that we could put a name to what I had.”
My name is Kelly, I was diagnosed with Variegate Porphyria in 2016 at the age of thirty nine. My first memory of being sick was in early elementary school. Something just wasn’t right as I felt really sick all the time. I couldn't breathe. I had chest pains and stomach pains which caused extreme nausea. By the end of the day my head was pounding, my skin was burning, and I would ache all over. I thought that was just how life would be for me. For as long as I can remember I would tell the doctors all my symptoms seeking answers to resolve the pain and nausea. I longed to participate in normal activities and go to school regularly rather than always being sick. When I reached puberty and throughout high school my symptoms were exacerbated which continuously had me in the emergency room.
In 2016 I became severely ill and subsequently I was sent to see a specialist. I was sent to see many specialists, I also went for many lab tests that weren’t commonly done. Due to an oversight at the lab I was tested for Porphyria. The Porphyria test would later come back positive. There are 8 types of Porphyria, and it would take some time to narrow down my diagnosis to Variegate Porphyria.
Once I was diagnosed, I thought it would be an easy road to recovery however, that didn’t happen. I am unable to lead the life I want to due to constantly managing and trying to avoid attacks. My life has changed drastically. I had to give up my job and avoid situations where I might be in the sun, heat or unsafe lighting. As a mother this drastic change has proven to be extremely challenging.
Having a diagnosis has helped me manage my symptoms. I make sure that I am well rested. I avoid stress I take prescribed medications to manage my stomach, anxiety, and insomnia. I also take vitamins to supplement the lack of sun. I eat enough carbs and glucose, as well as getting plenty of fresh air and exercise. UV hats, umbrellas, shade, zinc sunscreen combined with a high rated UV sunscreen help to protect Porphyria patients skin from the sun. UV clothing has proven to be beneficial as well. Avoiding triggers such as stress, high UV rating, hot heat, sunshine, improper lighting, gas fumes, chemicals, alcohol, sulphites, medications on the unsafe porphyria list and extreme temperature changes is extremely important for porphyria patients. In 2019 I had a partial hysterectomy that stopped the regular attacks I was having. The hysterectomy surgery was the best decision I've made as it put an end to the three week cycle of Porphyria attacks. The Porphyria attacks were so severe it would result in hospitalization and heme treatment.
When I have a severe attack, my doctor will order a heme infusion (Panhematin or haem arginate) with a hospital stay. It is a blood product that is made with the heme component that I do not have. This lifesaving treatment makes all the symptoms subside. Moreover, with the heme treatment you regain a quality of life. However, getting my heme treatment has proven to be difficult. My Porphyria levels either have to be a certain level before they can be ordered based on Island Health guidelines or can be received through emergency rooms by getting admitted and accessing the heme treatment through that process. It is frustrating to go through emergency it is a slower process as you are waiting for bed space versus a bed and treatment being booked for you.
It needs to be understood that Porphyria isn’t a particularly rare disease however, the testing for it is.
A Porphyria diagnosis can be the beginning of a long journey. Do not give up as you are your best advocate. Treat your well-being as you would for someone you love. Make sure you have your lists of questions for your medical professionals, as it is important to always ask questions and research everything. Be persistent until you get your answers. It took me 31 years of stubborn persistence with medical professionals before I got my answers. I now sit proudly on the board of the Canadian Association for Porphyria to support my cause and hopefully make a difference. Furthermore, there are exciting advancements giving us hope. Panhematin is now available across Canada through Canadian Blood Services and a new treatment, Givlaari (givosiran) that has been approved by Health Canada for the use in Acute Hepatic Porphyria. These are all positive advancements towards managing this life altering disease known as Porphyria.
~I sincerely thank you for taking the time to read my story. ~
Permission to publish was obtained from Kelly in 2022