Columns

The rare disease community took some serious hits in 2020. Critical clinical trials were halted and orphan drug funding targeted the development of COVID-19 treatments. As an extra slap in the face, legislation supporting telemedicine was approved, after health advocacy groups had called for policies to…

I have to stop beating myself up for being unable to accomplish things my healthy body could. The day I achieved a personal record running a 10K, I couldn’t celebrate because my head was in the hole of a port-a-potty. When I coasted across the finish line on a downhill,…

When my fiancé, Michael, first asked me out, he never expected to one day be my caregiver. In honor of Valentine’s Day, I dedicate this column to him. Michael is a rock, a support beam holding me up, keeping me steady despite anything acute hepatic porphyria throws my way.

I love coffee, but it doesn’t play well with my acute hepatic porphyria (AHP). Caffeine stimulates the central nervous system, and in recent years I’ve grown more sensitive to its effects. My AHP already causes me anxiety, irregular blood pressure, and insomnia, and as much as I may…

My undiagnosed rare disease sabotaged friendships. For years, I kept my acute hepatic porphyria (AHP) hidden for fear of being viewed as weak or seeking pity. As a result, I showed up in the world as guarded and aloof, shy and uninterested — traits that do not align well…

I would rather put on a strong face than admit to anyone the sheer amount of pain I’m enduring. I’m less focused on describing the actual pain at doctors’ appointments. Instead, I distractedly worry about whether I will be believed. I’ll reason with myself, thinking I can deal with these…

Last month, my primary care physician (PCP) referred me to a cardiologist for suspected postural orthostatic tachycardia syndrome (POTS) after I blacked out (again) on the massage table. According to many testimonies on porphyria message boards, POTS is frequently cited as a comorbidity of acute hepatic porphyria (AHP).

It’s that time of year again, when many of my friends and those on social media are making vision boards and charting paths to achieve their life goals. New Year, new you, right? As a human who is chronically ill and limited by pain, it can all feel overwhelming and…

Like others, I’m guilty of hating on 2020. In relation to in-person gatherings, I’ll be the first to admit I’ve said things like, “After all this is over, …” and, “When we get back to normal, …” But if my acute hepatic porphyria (AHP) has taught me anything, it’s…

Last week, we decorated for the holidays. Mugs of cocoa steamed on the dining room table, and jolly holiday tunes played in our living room as the kids maneuvered around our tree, bestowing treasured ornament-shaped memories onto perky plastic branches. In my hands, I held a rust-colored piece of metal…