Edith Lemay and Sebastien Pelletier noticed their daughter, Mia, had trouble seeing at night when she was just three years old. The couple – who live in Montreal, Canada – sought answers first from an optometrist, then an ophthalmologist.
Mia’s ophthalmologist suggested genetic testing, a process that looks for changes to a person’s DNA to help diagnose medical conditions and guide treatment. In Mia’s case, doctors wanted to find out if she had changes in her genes that could be linked to retinitis pigmentosa (RP), a group of conditions that affect the retina, or light-sensitive tissue at the back of the eye.
The retina captures light and sends it to the brain so we can see. With RP, cells in the retina – called rods and cones – break down over time, leading to vision loss. Symptoms can include trouble seeing at night, loss of side, central, and/or color vision, and light sensitivity. While there is no cure for RP, some treatments can help slow it down, and low vision experts can help people with RP make the most of the vision they have.
At first, Mia’s tests didn’t provide any answers. But a re-test a few years later showed a change to the gene that affects a protein complex in the rods of Mia’s eyes. Edith and Sebastien finally had an answer – and by then, their family had grown to include sons Leo, Colin, and Laurent. While Leo’s night vision was normal, both Colin and Laurent had trouble seeing in lower light. Their genetic tests confirmed the same change – both boys also have RP.
RP progresses differently for everyone, even siblings with the same genetic mutation. This means that Mia, Colin, and Laurent may not experience vision loss the same way, or at the same rate, as they get older. There is also no way to predict when and how their vision loss will happen.
Doctors encouraged Edith and Sebastien to show their children pictures to help them create visual memories, but the couple wanted to do far more than that.
“I didn’t want to just show them pictures of elephants,” says Edith. “I wanted to show them actual elephants, and how beautiful our world is.”
Edith and Sebastien began planning a trip around the world so the kids could experience as many different landscapes and cultures as possible. Since 2022, they’ve visited more than 15 countries across Africa, Asia, the Middle East, and South America, checking experiences like horseback riding and learning to surf off their to-do list. Multiple news outlets have covered the family’s adventures, and National Geographic is producing a documentary about their experience.
In January 2024, Edith, Mia, Colin, and Laurent took another trip – this time to Pittsburgh, to the UPMC Vision Institute and RP expert José-Alain Sahel, MD. Dr. Sahel, chairman of the Department of Ophthalmology at the University of Pittsburgh School of Medicine and director of the UPMC Vision Institute, has spent his career studying RP and developing new ways to diagnose, treat, and improve quality of life for patients with the condition.
The children underwent various tests with low vision expert William Smith, OD, at the Vision Institute’s new headquarters at the UPMC Mercy Pavilion and met with Dr. Sahel about two clinical trials for people with RP. Although Mia, Colin, and Laurent are too young and healthy to participate, the family will stay in touch with Dr. Sahel and the Vision Institute team to determine if future studies would benefit them.
“For now, we wait and see,” says Edith. “And we continue to make memories as a family.”
