Our Porphyria Journey: How It Started, How It’s Going
My 16-year-old son Brady agreed to pop on a #PorphyriaTogether T-shirt and pose with Mom for last Friday’s #PurpleForPorphyria global event in honor of Porphyria Awareness Week 2022. I am a happy mom anytime he cozies up to me.
The resulting image took my breath away. Staring at me was this tall, smiling, beautiful soul. My mind flashed through time as I thought about how far he has come. A trip down memory lane and through years of photos brought me back to the beginning of this porphyria journey. It reminded me of Maya Angelou’s wisdom: “You can’t really know where you are going until you know where you have been.”
How it started
In 2009, at age 4, Brady was diagnosed with erythropoietic protoporphyria (EPP), a rare disease that causes phototoxic reactions to the sun. Mere hours at a pool on the first day of vacation turned into a week of hell with a toddler that was writhing inconsolably and unable to sleep or find the words to share that his body was burning from the inside out. I cringe at the “sun protective” shirt he wore that day. EPP requires full-body protection, and a thin, sleeveless T-shirt barely counts as a barrier.
All Brady had to show for his manic behavior were slightly red arms. A trip to the emergency room produced more questions than answers. EPP is mostly invisible, making it difficult to attract clinical suspicion for testing. Although he was diagnosed within months of that episode, he has lived through years of unimaginable pain from unintended exposure.
That day at the pool long ago is the last time Brady ever felt free outdoors. After paying a terrible price in pain, the goal becomes to constantly avoid it. “Shadow jumping,” a term that describes EPPers who “jump” between shady patches of safety, is Brady’s way of life now for protection from the sun’s brutal rays.
How it’s going
After Brady’s diagnosis, we formed a community that became our support system. We educated other family members. His two older brothers became his best friends and fiercest allies.
We met people with all types of porphyria who know this disease and were willing to share their expertise. Recently, a fellow EPPer sought intel about the disease by consulting his “EPP family.” And that is exactly what we are: family.
This family also includes porphyria specialists, the clinicians and researchers whose work means everything to us. I’ve even had the professional opportunity to co-author peer-reviewed publications with some of them, including a patient-reported outcome study of the prodromal, or initial, symptoms of an EPP reaction. That study, titled “Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure,” was published last year in the journal Genetics in Medicine.
Living with a rare disease brings many challenges. Yet the burden is lighter when you can count on family, friends that become family, and a team of professionals.
Brady is driving — which is more difficult than you might imagine — and thriving as a junior in high school. He secured a summer job and volunteers to support others with his disease. He still hugs his mom and dad every day.
We have always hoped that our journey would help others on their own path. I am blessed to have that opportunity every single day in my role as president of the United Porphyrias Association. There are thousands of patients with all types of porphyria to support, including those who are undiagnosed.
One of my last calls the night before I wrote this column was from a mom who was finally able to have her child correctly tested for and diagnosed with EPP after struggling for years. Within the space of a few hours, I connected her with a world-renowned specialist who picked up the phone to answer her many questions. She quickly secured an appointment with someone I had waited years to meet.
I shared with her something I wish I had been able to tell myself 13 years ago: Life will be different, but it will be great. This disease will bring pain, but also opportunity. Your son will learn courage, resilience, character, and time management. You will find an expanded family that understands him and has your back.
Take every opportunity to teach him to self-advocate and protect himself. There is a team behind the scenes with researchers, physicians, pharmaceutical partners, and advocates, all uniting to make his life better. Let him experience his emotions and love him when he is feeling down. Then pick him up and offer the hope of a bright future.
I’m in this with you because we are #PorphyriaTogether.
Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to porphyria.