caring for kids with rare genetic eye disease is about staying strong for them
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the mcfarlanes took themselves on a trip around the world to see as much as possible because their sons, felix and atticus (centre left), will eventually go blind.
the mcfarlane family: andrew, felix, atticus, talia and victoria. felix and atticus have an inherited retinol disease.
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according to family legend, a rare genetic eye disease passed down through several generations had ended. so that’s what victoria mcfarlane believed. she wasn’t a carrier and her kids would never get choroideremia.
this inherited retinol disease (ird) causes progressive vision loss and eventually complete blindness. victoria’s grandfather went blind from choroideremia and that’s how her eldest son felix, 13, remembers great grampy sitting in a chair and having everyone around him but not being able to see them. her son atticus, 12, was younger and can’t recall this as clearly.
“it never occurred to me that i could have inherited this disease from my grandfather or be a carrier,” the halifax mom and lawyer says. she started seeing some black spots in her line of vision a number of years ago, and testing confirmed that she does have a mild form of choroideremia and is a carrier. she learned that her kids had a 50-50 chance of having the disease—they had a 50-50 chance of going blind.
genetic testing detected choroideremia, which leads to blindness
victoria and her husband, andrew, worked with the local children’s hospital to discuss the pros and cons of genetic testing and decided to go ahead. this was in 2019 when the boys were just eight and six.
“knowledge was power at this age and stage, even though at the time and currently, there’s no cure for choroideremia. if they had it, it would be important to know and to provide them with the community that they’re going to be a part of and to also hopefully advocate for a cure, which is where we are today.”
the family is connected with the national fundraising and advocacy charity fighting blindness canada and shares their story to mark inherited retinol disease awareness month in september. andrew is also a board member.
both boys were diagnosed with this ird, changing their life trajectory and leaving their parents with a sense of grief and guilt of not being able to provide them with the same life as their friends would likely have. their youngest child, daughter talia, 9, was not affected. about 21,000 canadians live with ird.
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“it was beyond devastating, even though we anticipated that that could be the result of having these tests done and having learned that this disease ran in my family and in my genes,” victoria recalls. “you still can’t prepare yourself for sitting down in a room and hearing that. two of your children have an inherited retinal disease that will cause them to be blind as they age, and there’s no deviation from that at this time. it is a foregone conclusion. it was a heavy hit on our hearts to hear that and to know that we could do nothing.”
vision loss has a profound impact on life
but they did turn to action, learning all that they could about adaptations for vision issues and moving to a quieter street where they built a house that had special features like running lights up the stairs. the disease causes loss of night vision first, then affects peripheral vision to the point where it’s like “you’re looking through a straw.”
andrew, a lawyer with another firm, grapples with the fact that loss of vision, out of all the senses, is so profound. “your ability to just do tasks, to drive, it’s something that affects so much of what you do and your life can become very limited.”
about 85 per cent of the information we take in is through vision. he’s also read about kids with choroideremia who were tripping and falling downstairs at age five, so he’s thankful that his boys are still living fully functional lives right now. they’re playing sports and going out with their friends, doing what young teens like to do. although it’s not impacting their everyday experience, there’s “a black cloud kind of hanging over your head like, is today going to be the day they wake up and tell me that they see black spots? that’s always in the back of your mind, like when is it going to go south?”
as victoria says, many days you don’t think about it, and then there’ll be a day where we’re driving and one of the kids says i can’t wait to get my license and it’s gutting because you don’t know if they’ll ever be able to drive.”
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the boys know they have the disease, but don’t dwell on it. still, the family wants to make the most of their vision ability while they have it. there’s no certainty about when the disease will start progressing with noticeable challenges. so, they decided to do something incredible to create lasting memories—a six-month trip around the world in 2025 to see 16 different countries. they saw the egyptian pyramids, went on safari in africa, rode motorbikes in vietnam and more.
and what did the boys like best?
“for kids, i mean, where we see danger, they see excitement,” says andrew. “so i see a street that’s just like nine rows of tuk tuks and scooters just about running over your feet and to them that’s like a video game. it’s the coolest thing ever. they rode on motorbikes when they were there and that’s the stuff they’re going to remember. we did so many neat things like boat rides and snorkelling in the great barrier reef.”
lessons about living in the moment
as well, the boys impressed their parents with their appreciation of all the places, experiences and people they met. “i expected them to grow into that appreciation if we were lucky,” victoria notes. “but they didn’t have to grow into it. they were so present and grateful to be able to see what they were seeing and do what they were doing in the moment.”
the reality is that they might not see these places again. the family is already planning for another trip, although a less ambitious whirlwind of travel. for now, they focus on having hope and supporting others through the work of fighting blindness canada.
“i would definitely say it’s something where it hits you like a ton of bricks and you need to take that time to process it and grieve on behalf of your kids,” says andrew. “you need to take your time, but you also need to be strong for them. it’s a tough balancing act, but people are strong, kids are strong and you know, we’ll get through it. just never give up hope.”
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