Ariel: Facing the world head on

May 17, 2021

Ariel has always taken the staircase of life two steps at a time. A highly motivated young woman, Ariel completed both high school and college in only six years. She reached even higher, graduating from law school, building a renewable energy practice with an energy consulting company, and starting a family. Ariel’s star continued to rise, and she felt good about making a difference in the world. But then, a few weeks after turning 30, “I literally tripped over my own feet and broke my nose in front of a conference room full of people,” she says. And that changed everything. Though she didn’t know it then, this moment was the beginning of her new life, one in which she would face her biggest challenge yet: battling a rare genetic disease.

Heading face-first into trouble

Ariel’s broken nose required surgery to rebuild her shattered septum. The surgery went well, but a week after returning home from the hospital, Ariel spiked a fever and developed stomach pain that quickly got worse. “At one point I tried to stand up, but the pain was so overwhelming that I passed out,” she says. Fortunately, her husband found her on the floor and took her to the ER. Initially the doctors thought she had developed either a post-operative infection or a complication related to the anesthesia. She was discharged, yet she returned to the ER several times where she was finally admitted and spent a week vomiting and in terrible pain. She eventually got better and was sent home, believing she had simply had difficulty recovering from her surgery.

However, the pain and vomiting returned six weeks later, this time with a rapid heart rate, dangerously high blood pressure, and hallucinations. By the third hospitalization in as many months, it was clear that something was terribly wrong.

Finding answers

After being run through the gauntlet of several medications, a dozen specialists (including a psychiatric consult), five misdiagnoses, and dozens of tests, Ariel found a gastroenterologist at a larger hospital who not only believed her symptoms were real, but also vowed to figure out what was causing them. During Ariel’s next bout of symptoms, the doctor conducted many tests, scans, and diagnostic procedures. After ruling out more common conditions, the doctor began testing for rare diseases. At last came a definitive diagnosis: porphyria, later confirmed by genetic testing as Acute Intermittent Porphyria (AIP).

“The whole time I was sick, the surgeon who fixed my nose kept saying, ‘When you hear hoof beats, you look for horses, you don’t look for zebras,’” Ariel recalls. “After getting diagnosed with AIP, he said, ‘I can’t believe it. It was a zebra all along.’” It took the support of her family and a medical team willing to think outside the box to find the zebra—the very rare disorder AIP—and to provide the help and care Ariel needed.

Making the world a better place—two steps at a time

Since being diagnosed, Ariel now has peace of mind knowing what’s happening in her body and working toward improving her health. Although managing AIP can be challenging, she’s finding success by developing and following a care plan that works for her busy life. Her can-do attitude never left, and she’s tackling challenges, working full-time to develop renewable energy solutions to make the world a better place—not only for her daughters, but for everyone.

“I want to make a difference and have a positive impact on the world,” she says. “I don’t want this disease to define or limit me.” Ariel is sharing her AIP story to help encourage others to keep searching for answers, options, and an accurate diagnosis.