When Edith Lemay and Sebastien Pelletier learned that three of their four children had a rare, untreatable genetic condition that causes vision loss, they experienced the stages of grief — denial, anger and sadness. When they reached acceptance, they decided to enjoy life. For them, this involves traveling the world and giving their children the chance to create “visual memories.”
“Whenever problems (arise) my way to cope is just to get into action,” Lemay, 44, of Montreal, Canada, told TODAY Parents via What’s App. “The thing is with the diagnosis, there’s nothing you can do. The doctor tells you, ‘Well, your kids are going to be blind, but we can’t do anything about it.”
For a year, she considered how she could provide Mia, 11, Colin, 7, and Laurent, 5, with “tools” to help them. That’s when a counselor suggested offering them experiences.
“So really the best thing for me to do would be to actually offer a fuller visual memory. And she said, ‘You know just put as much imagery in her head as you can. For example, you can look at an elephant or giraffe in a book so once she’s blind, she’ll have like an image to refer to,’” Lemay recalled.
That sparked an idea.
“I thought to myself, ‘Well let’s go and show her elephants and giraffes in real life that way she’ll really remember it,’” she said. “We might as well do it — like all just go see the world and show them how beautiful the world is. We want to fill their visual memory with as much beautiful things as we could.”
Trouble seeing at night leads to diagnosis
Lemay and Pelletier first noticed that Mia, then about 3, stumbled around when it was dark.
“We realized that something was wrong with her vision because during the night she would get up and start bumping into furniture and the walls,” Lemay said. “I would hand her some things in a dim light and she wouldn’t see it while I was able to see it really good.”
They visited an optometrist, who checked Mia’s eyes and didn’t notice anything before recommending they see an ophthalmologist.
“The ophthalmologist did the same thing, he checked her eyes but it’s not something that we really see in the eyes in the early stages of the disease,” Lemay explained.
They asked for genetic testing, which Mia did, but still it revealed little explanation as to why she struggled to see. Lemay and Pelletier also underwent genetic testing. That’s when they learned what Mia had, a condition called retinitis pigmentosa.
“It took almost two years before we actually got the results. So, Mia was 7 when we got the diagnosis,” Lemay said. “Our first reaction was disbelief and shock because when you have kids you have an idea of how their future is going to look like, what your life is going to look like. And in a blink of an eye, you need to rethink all of that.”
Colin and Laurent were also diagnosed with it, but Leo, 9, was not. Retinitis pigmentosa is a catchall term for several conditions that causes the retinal cells to degrade over time leading to vision loss and blindness, according to the National Eye Institute.
“The cells in the eyes slowly die. They’re going to slowly lose their vision from the outside toward the inside,” Lemay said. “The field of vision is shrinking over time. They don’t really know how long it’s going to take for them to lose vision. They can’t predict it and it can be different from one of my children to the other.”
As far as the family knows, the vision loss occurs slowly, and the children might be able to see until they’re middle aged.
“Their daily vision is super good. Their field of vision is still good, but their night vision is gone. Actually, I think it was gone from birth,” Lemay said. “We need to use flashlights or hold hands when we walk outside in the dark. And also my elder, my daughter, developed this sensitivity to bright lights. So, whenever she’s out in a sunny setting she needs to wear a hat.”
If not, Mia’s eyes water and they struggle to adjust making it difficult for her to see.
While there is gene therapy for one subset of the disease, it is not the type the Pelletier children have.
“We have hope, but we don’t want to live waiting for a cure,” Lemay said. “We want to make sure we live the best life where we can and make sure we’re ready for the future with the disease. And if a cure comes, if there’s a treatment then I think it’s going to be like super happy. But we’re not waiting on that.”
A postponed trip begins
The family hoped to travel in the summer of 2020, taking the Trans Siberian railroad through Russia, Mongolia and China, but they canceled that because of the COVID-19 pandemic. In March 2022, they decided to try again, this time with a less defined schedule. The family considered where it was easy to travel with the pandemic and what the children hoped to do.
“We didn’t ask really the kids what country they wanted to visit because I don’t think they have a real clue, which country is what,” Lemay said. “What we did was a bucket list of activities.”
Mia wanted to horseback ride and swim with dolphins, Leo wanted to see Pokemons (which might not happen), Colin wanted to go on a train and Laurent wanted to “drink juice on a camel.”
“We actually did that when we were in Mongolia and all of the kids were really excited,” Lemay said. “(I said), ‘Make sure you bring a juice for Laurent.’ So, we took a picture of him on the camel with his juice box. It was pretty funny. It’s like a running joke in the family, juice on the camel.”
The family also rode horses on the steppes of Mongolia, perhaps one of the best memories for Mia.
“She was so happy,” Lemay said. “When she got down from her horse, she was all teary eyed because she was so emotional. It was a great moment for her.”
Colin’s favorite experience was taking a 24-hour train ride through Tanzania on a “really old slow train” because he really wanted to sleep on a train. Leo enjoyed hiking the foot of Kilimanjaro and Laurent loved when they took a hot air balloon ride in Cappadocia, Turkey. Lemay and Pelletier told the children they weren’t able to take a balloon ride at first to keep it a surprise. When the children realized what was happening they felt thrilled.
“It was actually amazing because we did get up before the sunrise and we walked in that really dark field where we couldn’t see much and then all of a sudden the big huge hot air balloon starting filling up,” Lemay said. “It was like a big lantern rising all around us.”
That ride was so special for them and Leo noted “it looks like a dream.” The family also collectively loved the safari.
“Seeing the elephants and giraffe was just amazing and the kids were so excited to see them in real life,” Lemay said. “They were so impressed how tall the giraffe was from close up and the same for the elephant.”
While Lemay and Pelletier hope the trips help their children create “beautiful memories,” they also help that the uncertainty of travel will teach the children coping skills for the challenges and losses they’ll face later.
“We want the trip to help them to be more resilient because with RP what happens is that they’re going to lose their vision but really slowly. They’re going to need to adapt all the time,” Lemay said. “(I hope) they’re going to learn that when a situation is not comfortable or unpleasant that if you focus on what’s (bad) it doesn’t make it any better it just makes it worse. While if you focus on what’s good even in a bad situation, if you focus on a solution, then it makes things easier.”