Stronger Than Rare: Battling Adversity, Fueling Genetic Discovery
Life constantly throws twists and turns at us. These adversities, big and small, challenge us in new ways and force us to decide who we want to be: the person who gives up and walks away or the person who faces that adversity head on and figures out how to fight through it.
Kelly McConnell is a fighter. At 40 years old, she has had to learn to live with multiple rare health diagnoses. She has been diagnosed with a type of Ehlers Danlos Syndrome, a genetic disease without a known gene, that has affected her since she was a kid. She struggled with pain, passing out, and gut issues, but she didn’t feel like she was taken seriously. As symptoms began to worsen as an adult, she finally started getting some answers.
McConnell is also the one in 25,000 worldwide to be diagnosed with diabetes insipidus, in which the pituitary gland doesn’t release the hormones to tell the kidneys to save water. “I was constantly trying to keep water in my body,” McConnell said, “but I couldn’t, so I was also often dehydrated.”
Despite all of that, she was determined to pursue a career in medicine. She graduated from medical school and completed her residency in pediatrics. During her intern year of residency, she became sick again and developed adrenal insufficiency. Her body stopped being able to respond to stresses, so even something as simple as the common cold would make her very ill. Adrenal insufficiency affects one in every 100,000 people. As more issues and injuries cropped up, she suffered from gut failure and had to get a nasogastric tube – a feeding tube placed in the nose – to replace eating.
Nevertheless, she persisted. McConnell completed a fellowship in global health and worked with communities in Guatemala. Because of her health issues, she was unable to travel, so instead she developed systems using telehealth to provide education for community health nurses. She gave lectures on pediatric care to nurses. “The nurses then went out and administered group well checks, taught parents, and examined kids in the local communities,” she said.
“It ended up becoming a feasibility study using telehealth,” McConnell said. She wrote her findings and presented them in 2015-2016. “Initially, it was not well received,” she admitted, but the spread of Zika virus caused people to begin to rethink global health and climate change. When the COVID-19 pandemic hit, her research gained even more traction, and it still being referenced and cited in related research today.
Her own health problems forced her into resigning from clinical medicine at the end of 2017. She struggled with healthcare until she found the right team at Duke. Since beginning her care at Duke, she has been diagnosed with yet another rare disease: median arcuate ligament syndrome (MALS), which compresses the celiac artery – a major branch of the aorta that delivers blood to the stomach, liver, and other organs – and the nerves in the area. Surgery helped, but health flare ups have continued, and she has had to spend weeks in the hospital each year to get her health issues back under control. “In 2023, I spent 138 days in the hospital,” she said, “but in 2024, I only had 99 days, and was happy to have kept that number under 100.”
With her medical background and health issues, she knew that joining OneDukeGen and providing her genetics to researchers could help figure out several health issues. “Understanding these diseases is how we move forward,” McConnell said, “and there are millions of diseases I don’t have. My ‘normal’ genes could help figure out other anomalies.”
She knows she likely will not get any answers or cures for her conditions. “I don’t believe I’m going to be healed, and all these things are going to get better,” she said, but that doesn’t stop her from trying to help others as much as possible.
She is a moderator on an adult tube feeding site and moderates Zoom support groups in the Carolinas for dysautonomia monthly, which has helped her feel fulfilled and provides hope and support to others in similar situations.
Participating in OneDukeGen has provided her with another way she can give back.
About OneDukeGen
There is still a lot that we don’t understand about the connections between DNA and health. The more we study our DNA, the more we will learn what gene variants mean about us. As part of the Center for Precision Health within the Duke Clinical and Translational Science Institute (CTSI) and in partnership with nference, a science-first software company, OneDukeGen will use genetics and precision medicine to make scientific discoveries focused on improving the health and well-being of Duke patients. The team aims to enroll at least 150,000 Duke patients and research study participants. The more people who join, the better chance we have of finding new gene variants and understanding what the ones we already know about mean to our health.