Diagnosis: Acute Intermittent Porphyria

On September 17th 2008, at age 38, I was officially diagnosed with Acute Intermittent Porphyria by Dr. H. Bonkovsky at Carolinas Medical Center. The Geneticists at Mount Sinai say I have, “a missense mutation, R116Q in one of my HMB-synthase alles”.
My exterior looks just as non-descript as the next female human. I am void of any obvious physical deformity, yet plagued by an internal environment that parallels some of the world’s worst electrical storms. Often, I have tried to reach out to others, only to be hurt by their lack of understanding. How can people support that which they cannot see or understand? They doubt my story’s validity. I am offered counseling or psychiatric pharmaceuticals. Acquaintances loose investment in the relationship and move on.
As a young girl my internal turbulence would manifest itself in a variety of ways.
- I would have nightmares, waking to a rapid heart beat and a brow drenched in sweat. In my dreams I was haunted by a terrible being that trapped me, frightened me and inflicted horrible pain on me. The most disturbing part of my dream was that when I tried to cry out for help… my voice was mute! I can remember clutching my bible to my heart and praying for protection against the demon as I tried to return to sleep.
- I have always been intellectually driven yet emotionally and physically inconsistent at best. My menstrual cycle began at age 10 and resurrected a premenstrual personality in me that could easily rival “Mr. Hyde” at his worst. Everything was uncomfortable, everyone was irritating, I would get chronic urinary tract infections (UTI), and my bowels would cease to function properly. I was miserable to say the least!
- My family tried to address my situation the best way that they knew how. I went to doctors who prescribed medications that made me feel even worse: birth control pills to “even out” my female cycle; sulfa drugs to treat the UTIs; anti-anxiety drugs, for my nerves; antidepressant drugs, for my moodiness; sleeping pills; and more. When I continued to complain the physicians told my parents I was just being a “difficult youth”.
My adult years continued down the same path. I would experience intermittent internal tsunamis without external validation. I remained that terrified little girl controlled and muted by the demon within.
In 2002 my husband and I visited an Endocrinologist Specializing in the Invitro-fertilization process. For the next year I fueled my “internal demon” with hormones, daily injections, pills and insertable creams. I developed Ovarian Hyper-Stimulation Syndrome. I became more miserable than I had ever been in my life!
From 2002 through 2008 I stayed chronically unwell and continued to take medically prescribed drugs that only made it worse. The brief reprieves I used to enjoy became a thing of the past. I became more and more eroded until I said ENOUGH!!! I AM a Registered Nurse and I KNOW that there is something wrong with the way my body functions.
It became my independent mission to “expose my demon” and take back my voice! I took note of every symptom. I gathered copies of every medical test within 5 years; I requested a running ledger of all prescriptions that I had filled at my pharmacy over a 3 year period. I stayed up many nights re-reading my old nursing text books and searching the web. I made connections. My connections led me to the American Porphyria Foundation web site. Cinderella found her slipper!!! And her VOICE!!! I contacted Dr. Anderson who referred me to Dr. Bonkovsky. My demon’s name is Acute Porphyria.
Even now that my demon has been exposed and I have my voice back, the journey continues to be challenging. Medical professionals are not familiar with Acute Porphyria. They have obvious difficulty digesting information offered by a patient. My Porphyria Demon is so tricky! Even though I took my voice back, when I try to communicate the language is foreign and unrecognizable to the majority of people. I remain primarily independent/ alone and isolated related to my Porphyria medical case management.

Boy do I get frustrated sharing my body and my life with Porphyria!

I have recently decided to try immersing myself in an atmosphere of people who understand the distorted language of Porphyria (American Porphyria Foundation). I hope to gain more control over Porphyria by learning everything that I possibly can about it. Then take even more of its negative power away by teaching others like me to do the same!
Professionally, I am a Registered Nurse Specializing in Medical Case Management and Health Education. Some days, nervous system corrosion makes physical movement painful and mental focus foggy but my will to persevere is strong. As a Registered Nurse I understand how disease affects the mind and body. As a person with Acute Porphyria, I have personal experience interpreting what it is like to live with a chronic disease and how living with a chronic rare disease effects even the most casual everyday life situations. As a Medical Case Manager and Nurse Educator I have the opportunity to decode challenging communication barriers “dis-empowering disease” and effectively empowering those affected by disease, beginning with Acute Porphyria.