Abdominal issues and difficulty swallowing sent Stephanie Van Doren to a local hospital near her home in Debary, Florida. Unable to eat or drink, the 40-year-old mother of three had lost significant weight. At the hospital, she was diagnosed with gastritis — inflammation of the stomach lining — and sent home.
But when symptoms continued, including chest pain, Stephanie knew she needed another opinion. A friend recommended Mayo Clinic.
In early 2017, Stephanie traveled to Mayo Clinic's Florida campus and met with Timothy Woodward, M.D., a gastroenterologist. He diagnosed her with eosinophilic esophagitis — a disorder that causes buildup of white cells in the lining of the esophagus and is a major cause of digestive system illness.
"I liked him immediately because he took time to talk to me and listen to my answers," recalls Stephanie of her first encounter with Dr. Woodward.
Together, the two developed a care plan and, over time, Stephanie's condition improved. On a subsequent visit, though, Dr. Woodward recognized Stephanie might have another issue.
"It's important for me, when I'm taking care of someone, to look at them each time they come in and go over any concerns," Dr. Woodward says.
Over the years, numerous people in Stephanie's extended family had died as a result of aortic dissections. An aortic dissection is a serious condition in which the inner layer of the large blood vessel that branches off from the heart, the aorta, tears. The condition is often fatal.
"Although we had settled her esophagus issues, I was concerned when we were talking about her family members and how many had passed suddenly from these heart issues," Dr. Woodward says.
In his physical exam, Dr. Woodward recognized Stephanie's long, thin limbs and hyperflexible joints as traits that can be associated with several genetic disorders. He knew if such a disorder was identified promptly, Stephanie may be a candidate for therapy to reduce her risk for future problems. He referred Stephanie to the Department of Clinical Genomics for evaluation.
"Most doctors talk to you about their one area. Dr. Woodward talked to me about me. He talked to me about my family, my life," Stephanie says. "He really cares about his patients."
Stephanie's evaluation in Clinical Genomics uncovered a significant issue. She learned she had a mutation in the ACTA2 gene that has been shown to cause thoracic aortic aneurysms and dissections. It is estimated that approximately 20,000 people in the U.S. die annually from these conditions.
"To some degree, I knew something was amiss, but never expected this," Stephanie says.
She was unnerved by the news. "It was definitely scary knowing what could happen to me," Stephanie says. "I felt like I had a ticking time bomb."
But once she met with Mayo Clinic experts in Cardiovascular Medicine to learn more about the condition and how to reduce her risk, Stephanie became more confident.
"I still have to live my life, but I know what I can and can't do," she says. "And I know my providers are watching me closely."
Based on the knowledge Stephanie gained, her family decided that her children also would be tested for the genetic variable. The oldest is not affected, but Stephanie's younger son and daughter tested positive. And though Stephanie admits she struggles some days knowing her children have more to worry about as they grow, she's glad her family has the information.
"They will become more educated as they age and be able to make proactive decisions to live their lives to the fullest," she says.
Thanks to the collaborative nature of Mayo Clinic, Dr. Woodward remains involved in Stephanie's ongoing care — even sharing updates on potential medication that could slow or prevent the progression of her disease.
"One of the pleasures of being here at Mayo Clinic is having time to be proactive and pursue ideas that may positively impact our patients," he says.
"I'm so thankful to Dr. Woodward and the team at Mayo Clinic," Stephanie says. "I feel good. I live every day, and I have hope for the future."