The alarm bells started going off for Allison Galloway when she watched her son, Logan, play. She’d see other kids running up and down stairs and flying down slides on the playground, yet Logan was cautious with every step. When Galloway handed her son a toy, it would take him a little too long to reach for it.
Multiple eyecare providers told Galloway that Logan was too young for vision testing. Yet when he was 2 years old, Galloway took him to a specialist who diagnosed Logan with retinitis pigmentosa (RP), a type of inherited retinal disease (IRD) that involves the degeneration and loss of cells in the retina—the tissue lining the back of the eye that detects light and color.
Thanks to genetic testing, Logan’s diagnosis became even more specific and identified a severe form of RP that typically causes visual impairment beginning in infancy that can worsen over time. Months later, genetic testing confirmed that Galloway’s daughter, Zoe, had the same IRD.
When Galloway first heard Logan’s diagnosis and asked about next steps, the doctor replied, “There’s really nothing you can do about this.” But that answer wasn’t good enough for Galloway. It’s also not good enough for the Janssen Pharmaceutical Companies of Johnson & Johnson, where work is underway to help develop cutting-edge gene therapies for certain types of IRDs.
For World Sight Day, we talked to Galloway to learn more about what it’s like facing this disease—and how gene testing has helped her create a plan to support her children, locate clinical trials that will hopefully help scientists find a cure and connect with other parents whose kids are living with IRDs.
Allison Galloway: “I’ll never forget the day Logan was diagnosed with RP. We’d been to multiple eye doctors who essentially brushed off our concerns. But that morning, with 7-month-old Zoe propped on my hip, I told my husband, ‘If I don’t come home with a prescription for glasses for our boy, I’m going to be mad!’
Instead of a prescription, I was handed a sticky note with the words ‘retinitis pigmentosa’ scrawled in the doctor’s handwriting. When I discovered it was a blinding disease, I was in shock.
That doctor told us to go to Children’s Hospital in Denver for an electroretinogram (ERG), which would measure the electrical responses of the light-sensitive cells in Logan’s eyes. Logan also needed a CT scan to make sure the bouncing, involuntary movements of his eyes called nystagmus weren’t due to a brain tumor. Logan would go under general anesthesia so doctors could perform both tests at the same time.
Thankfully, there was no brain tumor. However, when the doctors dilated Logan’s pupils and shined lights into his eyes to see if his brain recognized the light, they got a flat line. Logan’s RP diagnosis was confirmed, and the doctor encouraged me, my husband and Logan to get genetic testing so we could understand the exact gene mutation that was causing this malfunction in our son’s eyes. At that point they didn’t recommend Zoe get tested because she didn’t have any symptoms.
What I’ve come to understand about our genes is that mutations are like little spelling mistakes. Because my husband and I have the exact same misspelling in the exact same gene, our children had a 25% chance of developing this IRD.
Three months later, we got the results: Logan’s RDH-12 gene is mutated, which means his body doesn’t make the enzyme needed to clean the eyes’ rods and cones, which are photoreceptors that are required for daylight vision. This prevents his eyes from transmitting light to his brain.
What I’ve come to understand about our genes is that mutations are like little spelling mistakes. Because my husband and I have the exact same misspelling in the exact same gene, our children had a 25% chance of developing this IRD.
For about a year after Logan’s diagnosis, we thought Zoe was totally fine. She’d rip around the playground and read books and she didn’t have any of the symptoms we noticed in Logan at the same age. My husband and I thought, ‘Oh, this is what it’s supposed to be like!’
Yet one night the four of us went out to dinner, and I looked in Zoe’s eyes and saw one of them bouncing up and down. Immediately, I had a sinking feeling and just knew that Zoe had the same disease.
Just when I thought I couldn’t get any lower, I felt knocked to the floor.
Facing the Fear of the Unknown and Preparing for the Future
The next day we were at a local lab to get Zoe’s blood drawn for genetic testing. Sure enough, it confirmed that Zoe has the same IRD as her brother.
As a parent, it’s terrifying to think about the day my kids will go blind. The stress and sadness overtake me every once in a while, and when that happens, I remind myself that they’re the most loving, intelligent, wonderful kids whose diseases are progressing differently, with different patterns of degeneration.
Logan, who’s 11 years old now and in 5th grade, is legally blind. The best way to describe his vision is this: Imagine taking a piece of cardboard and popping a bunch of holes in it, then trying to look through those holes. And Logan can see well through those holes! In fact, I’ll see him move his head every so often to try to see something through one of the holes. It’s just that over time, those holes will become fewer and fewer.
Zoe is 8 years old and in 3rd grade, and she’s still a visual learner. She has good days and bad days. She loves art, and on those good days, she’ll see well and look like she’s having a blast. Other days, you can see her frustration, or she’ll say something like, ‘I hate reading.’
Logan is a braille reader now, and we’re teaching Zoe braille as well. Both are learning cane training, because we want to prepare them for the future. My husband and I both deal with the fear of the unknown. Logan’s vision has been pretty stable for the last two years, but it could be that he wakes up one morning and he’s worse. Zoe is in more denial about her condition than her brother and will often remind us that Logan has more vision problems than she does. We try to be really upfront with our kids about their vision issues; we explain the science and tell them about what’s going to happen. If they ask a question, we don’t sugarcoat the answer.
The more scientists we have studying IRDs and the more funding they receive, the better. It’s really the only way we can feel some tiny bit of control over this disease. It’s what inspires me to hold out hope for a day when my kids wake up and say, ‘Mom, I can see your face!’ I often think about those happy tears I’ll cry.
It breaks my heart when Zoe comes up to me and says, ‘How will I do art if I can’t see?’ or when Logan shares a story about feeling left out at school. Just the other day, he had a substitute teacher who put on a movie in Spanish with English subtitles—a nice gesture for a new student in their class who doesn’t speak English. However, Logan couldn’t read the subtitles. It’s hard to hear him tell me that story and say, ‘Yeah Mom, that kinda sucked.’ It’s so hard when you can see how their condition is affecting them emotionally. But I feel honored that they feel like they can talk to me about it.
I often wonder if I’m preparing them well for their future, which will almost certainly include blindness by the time they’re in their 20s. I ask myself, ‘Am I doing right by them?’ My husband and I are trying.
Navigating—and Celebrating—Different Abilities
What’s helped tremendously is having our family’s genetic testing done. It’s not only helped us to identify a road map for how to move forward, but it also enabled us to look for clinical trials our kids may be eligible to participate in as well as connect with other patients and parents of people with this disease.
When the kids were first diagnosed, I felt like I was on an island. Finding people I could talk to, cry with and celebrate with was so great for my mental health, which is ultimately crucial for supporting my kids. In the last year, we’ve had the most positive news yet about the potential for clinical trials. The more scientists we have studying IRDs and the more funding they receive, the better. It’s really the only way we can feel some tiny bit of control over this disease. It’s what inspires me to hold out hope for a day when my kids wake up and say, ‘Mom, I can see your face!’ I often think about those happy tears I’ll cry.
For now, we try to expose Logan and Zoe to adults with vision issues. For example, there’s a skateboarder who’s blind and uses a cane. There’s a famous blind explorer who’s climbed the world’s highest peaks. We share their stories with our kids and say, ‘See guys? You can do anything! We just have to figure it out.’ And I think that’s all we can do, really. We can try to make them feel confident about themselves.
Recently, Logan said to me, ‘Mom, I don’t have a disability. I have a different ability.’
That was a great day.
