Kalisa Conley from Vicksburg, Mississippi was nearly killed by her rare disease because her symptoms were misdiagnosed for over a decade.
The inherited genetic disorder, Porphyria, causes a malfunction in the body’s production of heme which transports oxygen to cells. Chemicals known as porphyrins can accumulate in cells if any step of the synthesis is blocked, which can cause a variety of problems. Porphyria is not a single disease, but a sub-group of eight related conditions that manifest differently. Fewer than 200,000 people in the United States have porphyria. Conley was instructed not to drink alcohol, smoke, take hormones, go on low-carb diets or fasts, or take certain pain relievers, antibiotics or seizure medication, as they are triggers for the disease.
Doctors mistook Conley’s symptoms for more common ailments for 15 years, including pancreatitis, psychological problems, and dehydration, until she was sent to Dr. Art Leis at Methodist Rehabilitation Center for studies to gauge electrical activity in her muscles and nerves. Leis and certified nerve conduction technologist Dr. Isvan Alvarez Herrera identified the trend of recurrent abdominal pain attributed to pancreatitis and amber or burgundy urine over the years as a possible indication of porphyria.
Porphyria was hardly a top of mind condition for doctors, according to Leis. The diagnosis is something they read about in medical school, but most physicians never make that diagnosis in their lives, he said. Herrera, on the other hand, had long been fascinated by the rare disease and first heard of it while in medical school in his native Cuba. The diagnosis can be confirmed via blood, urine, stool, and genetic testing. During an attack, a porphyria patient’s urine may be red to brown in natural light and pink to reddish purple in fluorescent light.
Once Conley was correctly diagnosed, she began treatment at the University of Mississippi Medical Center. Conley had first noticed symptoms of porphyria at age 8 or 9 and had symptoms including stomach pain, vomiting, altered mental status, and extreme weakness in all four limbs. However, she did not let it stop her from living her life to the fullest between attacks. After the worst episode of porphyria she had ever experienced, which began in November 2021, she was unable to walk, becoming wheelchair-dependent.
Most doctors miss the diagnosis of porphyria, and patients can die because of interventions by doctors, according to Herrera. The same medications that porphyria patients are taught to avoid are sometimes prescribed, which can exacerbate the disease.See a typo? Report it here.