I’m a 43-year-old physician who retired due to illness at the age of 39. I have a rare genetic disease called acute intermittent porphyria (AIP). It’s an extremely painful and disabling illness. Due to an enzyme deficiency in the heme biosynthesis pathway in the liver, porphyrin precursors accumulate and are neurotoxic causing visceral neuropathy. The symptoms of the disease are neurological with the most notable being abdominal pain. It is a neuropathic pain which has a burning sensation that is unbearable. The pain is similar to what I’d imagine it would feel like to have a blowtorch against my stomach and my back. It also causes peripheral neuropathy in hands and feet. Along with the pain comes severe nausea, vomiting, headaches, fatigue, muscle weakness, motor neuropathy, fluctuations in blood pressure and pulse (autonomic neuropathy).
About 10 percent of AIP patients have a severe form of the disease referred to as “high excreter, recurrent attacks.” Unfortunately, I am one of those 10 percent. Initially, I only had monthly attacks lasting three to five days starting in late teenage years. Somehow, I managed to complete education and training and become a physician despite this. I was not diagnosed with this rare disease until the age of 39 when I suffered a life-threatening porphyria attack and then it was finally diagnosed. It was almost too late for me at this point as the disease was so severe that I stayed in back-to-back attacks and was no longer able to work or to do much at all. Regardless, I survived! There is about one-percent mortality rate during an AIP attack, and I’ve had hundreds of attacks, so I’ve been lucky — or not?
My big brother died unexpectedly at the age of 39. Genetic testing of autopsy samples later determined he had the same AIP gene mutation as I have. He died prior to my diagnosis, and his gene mutation was discovered as I lay in a hospital bed being told my diagnosis. At first, I felt such strong relief that my life was saved and sadness for my brother. As months passed, and I became sicker and more in pain, I started feeling a bit jealous of my brother. He was able to at least die with some dignity and no longer suffering.
The pain that I experience is extremely severe, and the only thing effective enough to bring it down to tolerable levels are opioid medications. I’ve tried everything possible. Pain is a subjective experience, and — for now — only the person experiencing it can know the severity and what helps to improve it. I’m having difficulty understanding the response from some in the medical community, government, media and the general public who are so focused on “opioid addiction” that they are unable to see patients like me and empathize. The media response is extremely damaging. It seems people do not understand that addiction is a separate issue — also deserving of compassion. Why is it that every time prescription pain medication is discussed, it’s only in reference to addiction and the “opioid epidemic.” What about people like me who live with a life-threatening and severely painful disease? Not many seem too interested in that story. I have watched now as countless pain patients have taken their own life due to discontinuation of their pain medication without any warning or consent.
Physicians are not the problem in this. Physicians want to help patients. Physicians are being misled, brainwashed and even punished into thinking prescription opioid equals addiction. Fortunately for patients like me, palliative care is a growing field, and I’m so appreciative of my palliative care physician. I’m frightened for the future, not only for myself, but really for everyone. Pain will affect everyone at some point in life. Whether it’s the individual or family, or friend — pain will be there.
Everybody should be afraid the direction things are going. Even cancer patients at end of life are being denied appropriate pain treatments. Now insurance companies can deny coverage for pain medications and are getting away with it. I encourage everyone to please use common sense in this climate where the pendulum has swung way too far in the wrong direction.
Lisa Kehrberg is a family physician.
Image credit: Shutterstock.com
