HEDGESVILLE, W.Va. – At only 27 years old, Daniela Powers felt like she was dying. What began as unexplained rashes exploded into a debilitating illness in just a four-year span. She visited numerous medical centers along the East Coast, desperately searching for an answer, but it was only after visiting experts at WVU Medicine that she finally received her long-awaited diagnosis.
swelling, especially to her face, eyes, and jaw,
from a disease that doctors misdiagnosed
for years until she finally found answers
at WVU Medicine.
Powers was an active, seemingly healthy woman living between Baltimore, West Virginia, and Boston, when she started getting random, painful rashes in 2019. Her condition spiraled downward rapidly after the onset of swelling in her face, hands, legs, and abdomen in mid-2022. Fatigue, tremors, migraines, and seizure-like episodes followed, and these symptoms only worsened as time passed.
“There were moments where I was just passing out,” Powers said. “There were moments I could not walk from weakness. My pain was through the roof.”
Initially, doctors determined Powers had a mold allergy. Another doctor diagnosed her with anxiety and prescribed Prozac. As her condition deteriorated throughout 2023, Powers was tested for Cushing’s syndrome, lupus, and multiple sclerosis, none of which she had. A neurologist suggested she had fibromyalgia, but he assumed anxiety was worsening her condition, so he simply told her to take her Prozac as prescribed.
Powers had reached her breaking point. She was angry that doctors were gaslighting her into thinking she wasn’t sick. But she was also afraid. Her body was breaking down, and she felt that none of the doctors offered any type of solution or even a follow-up plan. In fact, Powers said many of them had been dismissive of her symptoms.
“I knew what I was going from to what I was becoming,” Powers said. “I was having nightmares that I was dying, that I was going to die. And I began to just think, my death would have been avoidable.”
Four years later: A glimmer of hope
In March 2024, Powers had become so consistently sick that she quit her job and moved in with her mother in the Eastern Panhandle of West Virginia.
Desperate for answers, Powers visited the WVU Medicine Shepherdstown Medical Office Building, where she saw rheumatologist Saadia Waheed, M.D.
“She was thoughtful and creative and cared,” Powers said, adding that she felt like she’d finally found someone who believed her.
Even though Dr. Waheed believed Powers, she wasn’t quite certain what her symptoms meant.
“Although she had some symptoms that may present with some rheumatic diseases, they were just not fitting into one of our diseases the way they should,” Waheed explained.
Testing confirmed that Powers did not have an autoimmune rheumatic disease, like rheumatoid arthritis or lupus. But Waheed had another plan.
“I knew Morgantown was a long drive, but I really wanted her to see an allergy immunologist,” Waheed said.
She put in a referral for Powers to see Brian Peppers, D.O, Ph.D., at WVU Medicine Pediatric and Adult Allergy/Immunology, for possible angioedema, or swelling in the deeper layers of the skin and tissues.
A long-awaited diagnosis
Because the connectivity within WVU Medicine makes medical records readily available between the hospitals, Dr. Peppers was able to easily review the referral from Waheed, along with the tests and lab work. A few weeks later, Peppers called Powers.
“It was about a 30-minute phone call,” Powers said. “He listened intently. He asked all the questions that other doctors weren’t asking.”
“In my field, a lot of things are so rare that you really have to listen to the story,” Peppers said. “It’s not just what people say, but it’s also what people don’t say and how they don’t say it.”
As he listened to her speak, Peppers identified several keys to help him narrow in on a potential diagnosis. He noted the complete desperation in her voice, the lack of identifiable triggers for her rashes, and her anxiety. By the end of the call, Peppers told Powers he wanted to test her for hereditary angioedema (HAE).
of her disease, she felt well enough to live a normal life.
Unfortunately, as the disease progressed,
Powers became much sicker, and times like these had
all but vanished.
HAE is a rare genetic disorder that causes recurrent episodes of severe swelling in various parts of the body. According to the U.S. Hereditary Angioedema Association (HAEA), an estimated one in 10,000 to one in 50,000 people are affected by this disorder. The disease is hereditary, but the HAEA states that up to 25 percent of new cases result from spontaneous gene mutation without a family history.
Diagnosis of HAE is challenging, as lab results don’t always fall in line with defined thresholds unless someone is in the middle of an attack. Sometimes the only way to truly diagnose HAE is by treatment of cure, or administration of the rescuemedication to see if swelling subsides.
When Powers received a dose of the HAE rescue medication icatibant, it helped provide relief, which confirmed the diagnosis. Surprisingly, neither of Powers’ parents have HAE, which means that she is the first person in her family to have the mutation randomly.
Powers was so overjoyed to finally have a diagnosis that she began to cry. She added that while the disease sounded frightening, Peppers completely reassured her while still being truthful and honest.
“It was really miraculous for me in that moment,” she said.
No cure, but life-changing treatment
To help control her HAE, Powers self-administers an infusion of haegarda, which helps prevent an attack, once every three days. She also has icatibant syringes on hand in case of attacks. Unfortunately, medications for HAE are exceedingly expensive – Powers said six months’ worth of her treatment costs nearly $370,000.
Powers said that not only has Peppers helped make sure her medications are covered, but he’s also been available to answer questions about her symptoms and how to live her day-to-day life.
“He has been so informative, so gracious, so receptive to my questions,” she said. “And it’s not just him. Every person in his office is lovely. Almost always, somebody responds between 24 and 48 hours. I would imagine that most of their patients are a lot like me – needy. And yet, they never seem like that’s burdensome to them.”
Powers expressed gratitude to the WVU Specialty Pharmacy, calling each staff member “helpful, lovely, empathetic, and informative.” She also noted the kindness of the staff at WVU Medicine Berkeley Medical Center, who listened to her and let her explain her condition.
Today, Powers is much improved and building back her life.
“Without exaggeration, as melodramatic as it might sound, Dr. Peppers – with his attention to detail, his creative medical brain, and his empathy and dedication to his patients – he’s legitimately given me my life back,” Powers said. “I am very grateful to him and to all of his staff.”
Peppers, who said he’s very touched by Powers’ sentiments, stated that he could not take sole credit for diagnosing her, considering he arrived at his diagnosis in part because many of the common conditions had already been crossed off the list.
“I try my best to walk humbly amongst the giants,” he said.
Powers said her overall experience with WVU Medicine “has been like a big hug.” She noted the positive impact the System’s expansion, improvements, and staff have had on the region.
“I think WVU Medicine as a healthcare network has a lot to offer,” she said. “They should be celebrated.”
For more information on WVU Medicine, visit WVUMedicine.org.
