According to a story from Rare Disease Report, Nichol Kirby, who was diagnosed with acute intermittent porphyria in 2015, faced an arduous path to her diagnosis. Her constant pain, which she could not explain, led to suspicion from others that she was seeking to obtain opioids in order to abuse them. Unfortunately, for many rare patients, getting diagnosed can be one of the most agonizing aspects of their experience of living with a rare illness.
Acute intermittent porphyria is a genetic disorder of the metabolism that affects the production of heme, a component of hemoglobin that is essential for binding oxygen. Hemoglobin is the substance found in red blood cells that allows them to carry oxygen throughout the body. The symptoms of this disorder can vary widely; urinary activity is often affected, including symptoms like incontinence, urinary retention, painful urination, and dark urine. The most common symptom severe abdominal pain. Other symptoms include changes to blood pressure, high heart rate, palpitations, tremors, and sweating. There may also be psychiatric issues, such as anxiety, confusion, delusions, and hallucinations. People with the condition are at risk of other diseases such as cancer, kidney disease, and chronic pain. To learn more about acute intermittent porphyria, click here.
The epidemic of opioid addiction in the U.S. is one of the worst health crises that the country has faced in recent years. It is also preventable, and in many ways, the responsibility of the drug industry. Nichol is a from Indiana, a state that has been greatly affected by opioid addiction; she says she knows several people from her high school days that have been impacted.
Nichol began experiencing abdominal pain, the most common symptom of acute intermittent porphyria, but without an explanation for what was causing it, most providers assumed she was just seeking pain killers to abuse. She recalls her feelings of resentment and frustration at the powers that be that allowed her situation to happen, such as “big pharma” and the government.
Her last resort was checking into a hospital and reporting all of the other symptoms she was experiencing without mentioning pain. That was what it took for her to actually get medical attention, and the timing was critical. Within hours of being at the hospital, she suffered a severe seizure, another symptom that can appear with her disease.