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26.2 Miles Closer to a Cure

Mass Eye and Ear patient, Eavan O’Neill, shares her journey with Stargardt disease and why she is thrilled to run in the 127th Boston Marathon to fundraise for a cure.   

Eavan O’Neill runs at sunrise surrounded by mountains.
Eavan O’Neill during a recent run. Photo by Sam Rouda for Janji

Eavan O’Neill first noticed an issue with her vision in the eighth grade. While playing sports, like lacrosse and soccer, the ball looked blurry and during school, she had trouble seeing the board. Like most children, she hoped her vision could be corrected with glasses and in high school she was prescribed her first pair.

Even with glasses, Eavan was still having trouble seeing but didn’t consider it an urgent problem until college. Chalkboards became blurrier, and eventually people walking by her on campus looked like shadows as she was having difficulties identifying specific features. In her junior year, Eavan was studying abroad when she made a comment to her friend that was a critical sign of how severe her vision loss had become. “We were in Italy, and I said to a friend, ‘the moon is so beautiful tonight,’ and she responded, ‘that’s a streetlamp,’” Eavan shared in an interview with Focus. “That’s when I knew something was very wrong with my eyesight.”

Diagnostic journey

In December 2019, after returning home for holiday break, Eavan was evaluated by her local optometrist in Maine. Afterwards, Eavan’s optometrist immediately referred her to Maine Eye Center due to the signs of her vision rapidly changing.

An ophthalmologist at Maine Eye Center performed more advanced eye tests on Eavan, resulting in a broad diagnosis of cone dystrophy. Cone dystrophy is an inherited eye disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. The doctor explained to Eavan that her peripheral vision seemed to be intact, but her central vision was deteriorating. The ophthalmologist then referred her to Mass Eye and Ear for a more concrete diagnosis.

Close-up photo of Eavan O'Neill's left eye.
Photo by Sam Rouda for Janji

Eavan explained that although she didn’t have the name of the disease yet, she was told any disease correlated with cone dystrophy has no current treatment options and she would eventually go blind. “When I left the hospital, everything seemed so definite,” she said. “It was truly devastating.”

A month later, Eavan had an appointment to meet with Rachel Huckfeldt, MD, PhD, an ophthalmologist in the Inherited Retinal Disorders Service at Mass Eye and Ear. After reading her charts and performing an electroretinogram, which is a diagnostic test that measures the electrical activity of the retina in response to light, Dr. Huckfeldt diagnosed Eavan with a rare degenerative eye disease, Stargardt disease. Stargardt disease is a genetic eye disorder that leads to the buildup of fatty material in eye that destroys the photoreceptors, causing progressive vision loss.

Dr. Huckfeldt sat Eavan and her family down to explain exactly what this diagnosis meant, and what her options were. She explained that although this condition is not treatable yet, the Mass Eye and Ear team was working on multiple clinical trials to find treatment options to preserve vision for people with Stargardt disease. In the near future, Eavan could decide to be a part of a clinical trial.

Dr. Huckfeldt specializes in inherited retinal disorders and explained that she sees patients like Eavan daily and they, just like her, are more than capable of living a fulfilled life and continuing to be successful.

“After speaking with Dr. Huckfeldt, I felt understood. My initial feelings of devastation turned to optimism,” Eavan recalled. “I knew from that moment on I’d be in good hands.”

Sharing her story

Shortly after receiving her diagnosis in January 2020, Eavan retuned to college for two months until the COVID-19 pandemic began in March. College students were instructed to evacuate their campuses, and Eavan finished her senior semester remotely at home in Maine.

During those two months back on campus, Eavan didn’t have a chance to share her diagnosis with her peers. Due to the pandemic, that window of opportunity had seemingly shrunk.  

Eavan O'Neill runs on the road.
Photo by Sam Rouda for Janji

However, while she was back home in Maine, like many people during the pandemic, Eavan began to run to fill time and relieve stress. She would run a mile or two every day, until one day she ran into her neighbor, Madison, who asked Eavan to run four miles with her. Eavan agreed, although unsure if she’d be able to run that far. To her surprise, she completed the four miles successfully, and soon this became a daily routine together.

Four miles turned into five, then six and then seven. After a few weeks, Madison proposed the idea of running a half marathon together. Due to the pandemic, many half marathons were either cancelled or postponed, so Madison suggested that they run their own in their neighborhood and make it a fundraiser for the Foundation Fighting Blindness.

“Madison thought this would be a great opportunity to not only raise money for a cause close to my heart, but to share my new diagnosis with people outside of my immediate family,” said Eavan. “I was scared but the more I thought about it, the more I knew this was what I needed to do.”

The two ended up running their first half marathon together on July 3rd, 2020. During that time, they fundraised by telling Eavan’s story; she was open to friends and family about her new diagnosis and shared how she is moving forward. 

Running for research

On October 3, 2021, Eavan ran the Maine Marathon, continuing to fundraise for Foundation Fighting Blindness by sharing her story. Eavan explained that this marathon was a pivotal moment in her life for two reasons. First, she “caught the bug,” meaning, she was hooked on running long distance and knew more marathons were in her future. Second, she found an effective way to fundraise for promising research and spread awareness about Stargardt disease.

Her next goal was to run the Boston Marathon, and this year that dream is turning into a reality. Eavan is proudly running for Team Eye and Ear in the 2023 Boston Marathon, fundraising this time, for Dr. Huckfeldt’s research at Mass Eye and Ear. Her personal fundraising goal was $10,000, and she has already surpassed this by raising over $14,000.

Eavan shared that the past three years have been an incredible, unpredictable journey. As her vision continues to deteriorate, she has come to understand just how important the role that running plays in both her mental and physical health. “Training transforms the way I see myself. I no longer see myself as someone who can’t, but rather, as someone who can. Even as my eyes weaken, through running, my body, heart and mind strengthen,” said Eavan. “I am absolutely pumped for the Boston Marathon!”

Good luck to Eavan and the rest of Team Eye and Ear! Donate to Eavan and members of Team Eye and Ear.