Growing up in an AIP Family
Growing up in a family where AIP was often the topic of choice at family dinners and reunions, discussed as casually as some may discuss the weather, I knew how to live as though I had porphyria long before I was tested for it. These were the rules I was given to live by: eat plenty of carbohydrates; avoid sulfa drugs; and never, under any circumstances, drink alcohol. In college, I was constantly trying to explain to people at parties why I couldn’t drink; rumor soon spread that “Miranda’s, like, allergic to alcohol!” People were very sympathetic, though, offering me hugs while trying not to spill their Pabst Blue Ribbon beer on me in the process.
Because I had not been tested until October of this year, I had to live with a great deal of uncertainty. Depending on my mood, I would either convince myself I had porphyria or convince myself that I was invincible, that surely my mother hadn’t gifted me with any enzyme deficiencies. Other days I would just endlessly research porphyria, as if understanding the inner workings of this disease could somehow relieve me of its burden.
Finally, I received the package that contained the DNA test: two little scrub brushes to collect cells from inside my mouth. Now, it’s one thing to determine porphyria by urinalysis; that test works best when you’re actually having an attack. It’s quite another thing to have a geneticist take a crack at decoding you and discovering what your DNA says, especially for people like me who have had little to no symptoms. All I ever had was the knowledge that half of my family members were affected by a disease, and up until recently we never tested me because I had no problems.
After swabbing my mouth and mailing off my sample to the genomics center at Mount Sinai Medical Center in New York, I prepared myself to wait for 2-4 weeks for my result. I had waited my whole life, so how was it any different now? As a first year graduate student who also teaches college writing, I couldn’t really afford to put my life on hold; my course work and my students certainly couldn’t be put on hold just because I was waiting around, feeling perfectly healthy in the process. Ironically, I received my telephone call with the results while I was holding office hours, waiting for a student to come and discuss a paper with me. I closed my office door, listened to the kindly woman inform me that I had porphyria, and then I said, “Okay, thank you very much.” I did really mean that “thank you” part. I was thankful, and then I went back to work, helping a student out with her paper. Just another normal day.
When people express their sympathy that I have a rare disease, I don’t let them walk away without knowing what exactly I have. I learn new things about AIP all the time, and I am willing to educate anyone who is willing to listen so that I may help demystify this rare disease and make it seem as normal as anything else. It doesn’t hurt that we now have the DNA analysis to test for porphyria; in a lot of ways, it legitimizes our experiences, uniting us with people who are making leaps and strides in the sciences. Knowledge isn’t just half the battle; it’s a continuous battle, and it’s the heart of what we’re fighting for.
Miranda Dennis is the niece of Desiree Lyon, AIP patient and founder of the APF. We're relieved that AIP has not caused Miranda any problems so far, and hopeful that the day-to-day precautions she takes will protect her in the future. Since every week is Porphyria Awareness Week for Miranda, her story is just in time for this issue of the newsletter!