Hereditary Coproporphyria (HCP)
If I hear the word “inconclusive” one more time, I might scream.
It started with exhaustion: bone-tired exhaustion. Then the pain began. I went to the doctor, and they ordered tests. We thought it was lymes, lupus, or mono. Then it was cancer. Then it was in my head. So, I signed up for therapy and begged my therapist to fix my brain because I didn’t want to wake up in pain anymore.
But it wasn't in my head.
Some days I felt fine - great even - but it never lasted. My skin prickled in the sun, popping hives around my neck if I spent more than twenty minutes outside without sunscreen and shade. I stopped eating because everything tasted like ash. My eyes turned yellow. My urine was dark. The hours before an attack peaked, a white-hot fire would ignite inside my bones, and I knew it wouldn’t be long until I felt the familiar, intimate fingers of a ghostly hand slither beneath my skin and squeeze my liver until I couldn’t breathe. I would vomit bile and silently sob in the bathroom at work afraid to let everyone know how close I felt to death… and how I often wished it would come.
But the tests came back “inconclusive.”
In 1997, my father died. He turned yellow, the same shade as the legal pads he used to write his sermons on. They said it was liver failure, but they weren’t sure why. His tests came back inconclusive too. They treated him for a hepatitis he didn’t have and took x-rays, and biopsies, and CAT scans. They told him his blood tests were fine. His liver was fine. He was fine.
He wasn’t fine.
I remember his face when he was in pain. I remember the way his smile didn’t meet his eyes. I remember the bottle of Tylenol on his desk, always empty. Because he was fine, remember? You don’t need pain medication when you’re fine.
I was nine when he died.
The first hematologist I visited suggested porphyria. She did one test. It came back inconclusive. Shrugging her shoulders, she said, “It's not a no, but it's not a yes,” and referred me to more specialists.
My liver enzymes were elevated and the lymph node in my neck stuck out. I went on antibiotics, got a biopsy, and still more tests. My arms turned purple from the needle sticks, so they stuck my hands. For months, I bled into tubes and peed into cups and received abnormal - but inconclusive - results. I remember my husband yelling into the phone as I threw up in the bathroom, again - “Can you rule it out? Can you tell me it’s NOT porphyria? Because we just want her to feel better. Tell me it’s not so we can move on!”
But they wouldn’t. They just said we needed more tests.
I took a leave from my job; we drained our bank account, savings, and daughter’s college fund to pay for expensive lab work. We fought with phlebotomists that exposed my samples to light again, and again, and again costing us hundreds of dollars with their carelessness. I had to go back to work. We were out of resources. We were out of options.
Then the positive DNA and biochemical results came in.
I wasn’t sure if I was going to write this. I don't want to be sick. I don't want people to treat me like I'm fragile. I don't want my illness to limit my education, my career, or my dreams. I want to deny my HCP, continue hiding my pain, and continue saying “yes” to things when I should say “no.” For a long time, I thought if I ignored it, maybe, just maybe, it will all go away…
But I don't want to leave my daughter without a mother. I know what it's like to lose a parent. I owe it to her, and my late father, to live.
I have HCP… I hate writing that. I'll try this again:
I have HCP. It’s something I'll live with for the rest of my life. We can treat it, but we can't cure it - yet.
That feels better. I'm going to end this with some much-needed thank you's:
Thank you to my doctors - especially my brilliant primary care physician - who never gave up on me. Thank you for listening to me, for finding treatments, and for supporting my desire to work, live, and grow despite my HCP.
Thank you to the APF for all the work you do spreading awareness, offering resources, and supporting research for treatment and cures.
Thank you to my employers and my university for accommodating my unique needs of flexibility, blue light filters, and remote hours so I can continue to work, go to school, and reach my goals.
Thank you to my family and friends. Thank you for taking 2 am phone calls, for holding me when my body shakes, for being okay when plans change or cancel, for seeing through my “I'm fines,” and for encouraging me to take the pain medicine (that's what it's there for!). I would not be here without your love.
And thank you to my husband. You knew something was wrong, and you never gave up fighting for me - even when I gave up on myself. Thank you for carrying me when I fell.
To everyone living with porphyria: we are strong. We will make it through this even if we have to take it one day, one hour, one minute at a time. I see you. I hear you.
And I am you.