CRB1 Archives - Hope in Focus

Living with IRDs: Insights and Inspiration from the Front Lines

The 2025 LCA Family Conference in Minneapolis, MN, offered four informational panel sessions, where the 135 attendees learned about living with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), participating in clinical trials, and the latest research and therapy updates.

The first session, “Living with an IRD,” was moderated by Laura Manfre, co-founder and Board Chair of Hope in Focus. This session is often a highlight for families wanting to learn how to support their children diagnosed with an IRD.

Laura Manfre, Lee St. Arnaud, Elle St. Arnaud, Jack Morris, Leslie Morris

Laura posed questions to the four panel participants, which included 18-year-old Elle St. Arnaud, who has LCA IQCB1/NPHP5 and is attending Boston University this fall, and her father Lee St. Arnaud, and 22-year-old Jack Morris, who has RP CRB1 and is a recent graduate of Brown University, and his mother Leslie Morris.

Below are some of the panelists’ edited responses to Laura’s questions.

What has your school journey been like? What challenges have you faced, and how did you advocate for yourself?

Elle St. Arnaud

Elle was educated in the public schools with a paraprofessional supporting her in class from preschool through fourth grade. She said that a key to her success was learning to advocate for herself early on by participating in her individualized education plan (IEP) meetings, explaining her accommodations to teachers, and taking responsibility for communicating her needs, especially regarding her vision. Elle reflected on the importance of self-advocacy and how it has shaped her life.

“It’s vital for kids to be able to explain their accommodations, as others often don’t fully understand visual impairments,” she said. “While I’ve had positive experiences, I’ve also faced challenges, such as being discouraged from joining the debate team or taking advanced classes. I pursued both anyway, proving that being blind doesn’t limit one’s ability to succeed. Self-advocacy and standing up for your needs are essential life skills.”

Jack Morris

Jack started in public schools and later switched to a private school. His vision was relatively good throughout most of his schooling. Jack thought he might have done even more to advocate for himself. Still, regular meetings with teachers and advisors proved very helpful. He said, “When people understand what you need, they generally want to help.” Although at the university level, he said some professors were resistant to making accommodations.

He stressed that “Accommodations are not favors—they are necessary for success. Blind individuals are not less intelligent; they simply need equal access to materials to perform just as well as others. Having confidence in advocating for these needs is crucial, and legal protections like the ADA support this.”

As parents, can you share a little about your journey? How was it seeking a diagnosis, and what are some things you wish you’d known earlier?

Lee St. Arnaud

Lee explained that Elle and her older brother, Patrick, both have LCA. When trying to diagnose Patrick’s vision issues, he shared how difficult it was when the doctor offered only a brief response, instructing them to return in five months to confirm their son’s blindness. Overwhelmed, the family immediately reached out to resources like the Chicago Lighthouse for the Blind, which connected them with supportive networks and foundations.

Lee stressed the importance of parents being proactive and finding tools like a detailed year-by-year visual goals guide, which they used effectively in IEP meetings to advocate for their children’s needs. He emphasized the importance of being prepared, pushing for necessary services, and actively advocating for the child and family.

The St. Arnauds encouraged their children to participate in outside activities like adaptive climbing and the live hockey association. “So many times we were nervous and sweating bullets. But by the time we got done, the kids were like, you know what? We can do this!” Lee said.

Leslie Morris

Leslie said that Jack’s diagnosis with a recessive form of RP at age five came as a shock because there was no family history. She described feeling heartbroken and overwhelmed by a sense of loss and isolation. Despite these emotions, Leslie and her husband, Jason, chose not to accept discouraging responses from doctors. Instead, they took action—connecting with others affected by IRDs and becoming involved with the Foundation Fighting Blindness, where both serve as trustees.

Advocacy became like a second job for the Morris family, as they worked to ensure Jack had every opportunity for a full and meaningful life. Leslie said they didn’t want the disease to define their son, and they encouraged him to try various activities like baseball, football, swimming, wrestling, and guitar. “We focused on letting Jack decide when to step away from activities while gently steering him toward pursuits that offered long-term fulfillment,” Leslie said.

How do you give your child enough independence to grow and to learn, while also wanting to protect and keep them safe?

Lee St. Arnaud

Lee felt that they didn’t experience significant disagreements with Elle or Patrick regarding their ability to self-manage. He stressed the importance of balancing caution with encouragement and supporting early opportunities for independent experiences in the community without rushing the process. He also reflected on the importance of understanding your child’s interests as they mature.

Elle St. Arnaud

Elle immediately spoke up after her father, expressing her childhood frustration and conflict with her parents over having to take Orientation and Mobility (O&M) training particularly the inconvenience and social discomfort of being taken out of school. Despite hating it at the time, she admitted the lessons had long-term value, especially in promoting independence. She noted the importance of starting children early with independent tasks at home, like cooking and laundry, while pacing community-based skills more carefully. “I think parents should keep their children engaged in O&M even if the child resists,” Elle said. “Because it equips them with critical life skills—such as safely crossing the street—that pay off later.”

Leslie Morris

Leslie emphasized the importance of parental teamwork and unity, particularly when supporting a child’s journey toward independence. She admitted to being a bit of a helicopter mom. “My husband, Jason, and I agreed on things before letting Jack go out and try them,” she said. “Having somebody by your side through this journey is very important.” She added that when parents are aligned in decisions and approaches, it helps minimize conflict and makes the process smoother.

Jack Morris speaking at the 2025 LCA Family Conference

Jack Morris

Jack didn’t recall having major conflicts and expressed gratitude for the trust his parents placed in him. One slight regret he had was not wearing sunglasses earlier, due to self-consciousness. Jack said he appreciated the opportunity to try things—even fail—while still feeling supported and safe.

Much to the amusement of the conference attendees, Jack recounted a brief period when he was legally allowed to drive, a decision made with medical guidance that, in hindsight, seemed very questionable.

“I appreciated that my parents trusted me to be able to take care of myself. This journey makes you resilient, tough, and resourceful,” Jack said. “Kids can be very clever in planning solutions to their unique circumstances, and my parents trusted me in that.”

Community members have expressed that mental wellness and accepting vision loss can be difficult. Elle and Jack, what are your thoughts?

Elle St. Arnaud

“Not wanting someone to see your pain and not wanting to wear sunglasses or use a cane will likely peak around middle school,” Elle said. “No one wants to be different, and you want to be ‘on trend’ with everybody else.”

She added that having a para in the classroom with her all of the time was an inhibitor and made it harder for her to talk with other kids. “Parents should try not to hover when their child is with other children because it can make them feel less confident or social,” she said.

Elle said she made it a priority to share her experiences as a blind person with her sighted friends. “We’d make jokes about it, and I talk about it constantly. I’d share what I’ve experienced and every blind story I’ve had,” she explained. “I think that’s important because when you need to ask your friends for help, they are a lot more understanding because you’ve explained it and talked about it so many times with them.”

For example, she told her friends about walking into a door, which helped them be more aware that she might not see it, allowing them to take the initiative to guide her when needed. “I think the easiest way to be accepted is to talk more about your blindness so it feels more normal,” Elle said.

Jack Morris

“I think there’s a line to be found between letting a disease define you and rejecting that it’s a part of you, because retinitis pigmentosa (RP) has been a huge part of my story—a beautiful but also a tough part. It’s something that feels different and lonely, but also unifying and community-building,” Jack said. “If we can find ways to live in and with our disease rather than despite it, that’s where truth and freedom lie for me.”

He offered advice to parents, saying that they needed to be strong in ways that aren’t obvious. “One of the hardest things for parents is watching their child struggle. But sometimes the biggest strength is allowing them to struggle. Kids need to feel the full spectrum of emotions—challenge, loneliness, empowerment, and togetherness,” Jack said. “If parents can be there as a foundation, even when things are hard, and let them be hard before stepping in with action, that’s one of the most powerful and meaningful things they can do for their children.”

FROM THE WALL: Pushing Boundaries, Building Confidence

Throughout her 29 years, Michelle Ward Caton has embraced life with unwavering curiosity and gusto. Determined to test her abilities and not be limited by vision loss from Leber congenital amaurosis (LCA), she is, among other things, a competitive adaptive rock climber and teacher of the visually impaired (TVI).

Growing up in North Haven, Connecticut, Michelle’s route to an LCA diagnosis took time. Initially, her parents noticed that she wasn’t focusing on faces. “Once I was walking, I bumped into a lot of things! But when this was discussed with my pediatrician, he said it was Michelle being Michelle,” she said. “When I was three, we moved into a new house, and while running around, I hit my head on the kitchen island overhang. My concerned parents took me to a pediatric ophthalmologist, where my poor eyesight was finally confirmed.”

Several years later, the eye doctor detected white blood cells in her eyes and sent her to a Boston eye specialist. By the time they got to Boston, the white cells were gone. However, it wasn’t until she did genetic testing during high school that Michelle was diagnosed with LCA8 from a mutation in the CRB1 gene.

Michelle Ward Caton stands outdoors during a climbing trip with her first guide dog, Ryder, wearing climbing gear

Michelle on a climbing trip with her first guide dog, Ryder

The Journey

Early intervention services started at age three, and by age five, Michelle had a TVI. Refusing to be sidelined, she did everything that her older sister did at the same time. “If she learned to bike ride or swim, I did too!” Michelle said. We were only a year apart, and it was almost like being twins. But determined to keep up, I did many daring things for a blind person.”

Her resolve to play softball in elementary school was dashed, she said, “When my dad took me outside and tossed a few softballs at me until I realized I couldn’t play. When you’re a kid, you think you can do anything. Sometimes, you have to realize you can’t.”

Michelle’s parents exposed her to various activities, including the piano, flute, and bass guitar. Later, she participated in gymnastics and was a ballroom dancer throughout high school. “I did Brazilian jiu jitsu and then Muay Thai, a form of kickboxing, which my dad practiced with me, allowing me to get the rhythm of the sport and have incredible workouts,” she said.

In college, Michelle tackled the gym and weightlifting, and when she was at UMass Boston working on her TVI degree, she met a friend who did rock climbing. “I began climbing with an adaptive climbing group that participated in competitions,” she said. “I went to nationals and placed second, got on the United States team, and went to the international competition in France,” she said.

Rock Climbing Lessons

Michelle and her husband, Jason, continue to climb and discuss competing again. “It’s important to go out of your comfort zone. I still have some vision, and being outside and up high with a view is incredible,” she said. “When I’m climbing in the gym and hit the spot where I’ve fallen many times and finally figure out the right move and body positioning, it’s a small victory. It’s great getting to the top of the wall, whether I can see it or not. The top of the wall isn’t necessarily the prize. It’s the fact that you did it that builds confidence.”

Michelle Ward Caton competes on a climbing wall at the national adaptive climbing competition

Michelle at the 2019 national adaptive climbing competition

Children with visual impairments often find body awareness and balance difficult, but these can also be tough for adults. Sometimes, when Jason tells Michelle how to move on the climbing wall, getting her correct body part to the right location is challenging. “Jason might say to move my right foot three feet, and I move my left foot one foot,” she said.

Helping children with body awareness is something Michelle focused on teaching in her preschool classes during TVI training. “I’d set up obstacle courses for the children to climb over, under, or step through or over,” she said. “I think climbing and jiu-jitsu are some of the best sports for kids with vision impairments because they help build body awareness.”

Vision Changes

When Michelle was about 26, her vision dramatically worsened. “I abruptly lost acuity, and my nystagmus got much worse. There was no time to adjust,” she said. “I’ve always had some nystagmus but could focus through it; now my vision always vibrates.”

As a TVI, Michelle teaches braille, but she also uses it to access all of the appliances in her home. She also does most of her visual work in the morning because the nystagmus exhausts her by evening. “You have to adapt your scenario to your specific needs. It feels like I’m constantly adjusting. I keep puzzling things together to see what works,” she said. “This is the reality for everyone with LCA; each situation is different, and you must finesse things until something works.”

The Right People

Dating during college helped Michelle discern that “it’s the people that don’t care about my vision that make the best friends. I’d meet someone, and when they found out about my vision impairment, they would shift from ‘You’re cute!’ to ‘You’re a science project.’ They’d ask me how many fingers they held up and what I could see. I got all of the stereotypical questions.”

Michelle loves that her husband doesn’t care that she is blind. “Jason does things for me that I don’t even notice. I’ll be looking for something, and he will grab it, hand it to me, and walk away without commenting. Or he will get out of the car and offer me his arm. We never talked about my limitations—he just got it!”

Jason and Michelle, with guide dog Ryder, at Arches National Park

She said finding supportive people who don’t coddle is essential. “Jason encourages me to learn new things that a friend might say are dangerous. Instead, he teaches me how to do it. He doesn’t make assumptions about what’s possible for me.”

A sense of humor is vital for navigating a degenerative condition; Michelle explained, “I trip and fall and knock things over all the time! My visual decline in the last couple of years has been very tough, which makes it essential to find someone who laughs with you. Being morose doesn’t work!”

Family Interactions

Reflecting on growing up with LCA, she said, “My parents always treated me like my sister. Being blind was a characteristic that only meant I did things differently. My sister didn’t acknowledge my being blind for a long time. I don’t think she fully realized what it meant. Instead, she would stare at me and say, ‘Just do it,’ which is what a big sister does.”

“My parents never wallowed in my diagnosis, and we had many real-life conversations about my vision loss. But my dad struggled because he knew my vision would get worse, and I would face lifelong challenges.” Michelle said. “In high school, we met Robin Clark, a teacher passionate about ensuring kids had the independent living skills to live successfully. We implemented creative strategies, worked on things at home, and discussed what would help.”

TVI Responsibilities

As a TVI, Michelle travels between schools in New Hampshire, helping elementary through high school-aged students based on their individualized education plans (IEPs). “I love working with the teams that work daily with the kids to support their vision in class,” she said. “Life with LCA is like rock climbing. Starting out, you have no idea what you are doing, but you feel your way along, and eventually, you’re competing!”

Life Through a Different Lens: They Just Talked About Eyes!

Christine and Anthony Gonzales dreamed of having a large family and were thrilled when their first child, Iliana, was born in August 2018. However, within a few months, their excitement turned to concern. “About a week after Iliana received her four-month childhood vaccine, we noticed her eyes making erratic movements,” Christine said. “We took her to Lucile Packard Children’s Hospital (LPCH) at Stanford and stayed a few days. They ruled out neuroblastoma and did whole-body MRIs to make sure everything was negative. Her eye movements decreased, so she was cleared.”

As Iliana moved into toddlerhood, the couple noticed some things seemed “off.” “Iliana was learning to walk, and occasionally, she would trip and run into things or halt if the lighting changed,” said Anthony. “At other times, she couldn’t locate things or find us. As the months passed, we realized that she wasn’t growing out of it and that something else was at play.”

Increasing Complexity

Then, just before Iliana turned two, her sister Malaya was born in June 2020. At the same time, Iliana’s eye movements increased in frequency.

The couple decided to take both girls to LPCH. “Iliana’s extensive workup, which included genetic testing and an eye exam under anesthesia (EUA), revealed retinal inflammation. They also recommended genetically testing Malaya because getting the results takes a while,” Christine explained.

Although the cause of Iliana’s inflammation wasn’t clear, a member of the Stanford medical team treating Iliana, whose clinical focus was ocular inflammatory disease, suggested treating her with steroids. As a nurse, Christine was acutely aware of possible side effects, and she and Anthony had serious questions about treating the inflammation without knowing its source. But hoping it might help, they consented.

“In December 2020, Iliana was hospitalized again, and the doctor suggested doing infliximab (a drug used to treat autoimmune diseases) infusions in addition to the steroids because the inflammation was so severe,” said Christine. “We started Iliana’s infliximab infusions in January 2021, and Malaya’s first EUA was in February 2021. According to the retinal specialist, Iliana’s inflammation was worse than Malaya’s, causing her vessels to become “leaky.”

At about the same time, the genetic tests revealed that both girls had the CRB1 mutation. “Even so, the doctor recommended continuing Iliana’s once-a-month infusions, which were given for a year,” Christine said.

At Iliana’s follow-up EUA in April 2021, their doctor admitted that the inflammation hadn’t reduced as much as anticipated. But it was still coming down, and he wanted to continue the infusions. “After the December 2021 EUA, he suggested using methotrexate, a chemotherapy drug, but we said no,” said Christine.

Weighing Choices

The fact that their doctor was leaving Stanford, the relative ineffectiveness of the infusions, and that the Gonzales family was moving all contributed to the decision to stop the treatments. This choice provided Iliana with a much-needed break from the poking, prodding, and stress associated with the infusions and testing. It also gave Christine and Anthony the time and space to evaluate their situation, which was now even more complex with Malaya’s diagnosis. They planned to monitor the girls and get a second opinion.

Between 2018 and 2024, the Gonzaleses consulted with eight doctors at four different medical facilities in California to identify what was affecting their daughters’ vision. While the genetic testing revealed the CRB1 mutation in 2020, the focus of the retinal specialist at that time was on treating Iliana’s retinal inflammation. A definitive diagnosis of LCA wasn’t made until 2024, when the Gonzaleses took their daughters to see Jacque Duncan, MD, at the University of San Francisco. Dr. Duncan confirmed a diagnosis of Leber congenital amaurosis (LCA) for both girls and connected the family with the Foundation Fighting Blindness (FFB) to help them find more resources and a supportive community.

Embracing a New Reality

Receiving the genetic diagnosis was simultaneously helpful and crushing. Throughout their medical journey, Christine had done extensive online research, and it was discouraging when she discovered no treatment was available for the CRB1 gene.

It is an understatement to say that the recessive gene mutation had already handed the family a one-two punch, but it wasn’t done. In October 2022, their son Amari was born and found to be a CRB1 carrier. While this diagnosis wouldn’t impact his vision, the information could have implications later in life if he decides to have children. With no family history of eye disease, their children’s genetic diagnoses were shocking for Christine and Anthony and their extended family.

“What was so hard about this process is that young children can’t express what they are feeling or experiencing. There is only so much you can do. It’s like banging your head against the wall, and there is a lot of self-doubt as a parent,” said Christine. “But it’s tough to get the genetic diagnosis. After all of the searching and finding, it comes down to us, as their parents, causing this by passing on a gene mutation we didn’t know we had.”

Amari, Iliana, and Malaya Gonzales sitting together at the table — A sibling photo of Amari, Iliana, and Malaya.

Creative Next Steps

Determined to soldier on, Christine and Anthony decided to homeschool the children. Iliana is currently in the first grade and is a bright and eager student. Malaya and Amari are too young for school and are very active and curious, which means there is never a dull moment in the Gonzales household. The couple share child care and homeschooling responsibilities via a carefully choreographed work schedule. Anthony is employed at a local hospital in the dietary department, and Christine, an RN, works nights at the same hospital. The family is working with the county and school to create an individualized education plan (IEP) for Iliana and one for Malaya when she starts kindergarten.

Regarding the girls’ current vision status, Iliana was tested in 2024 and found to have significant peripheral vision loss. For now, Malaya’s vision may not be as impacted as Iliana’s. “Malaya is strong-willed,” Anthony explained, “and she isn’t very compliant at this point, so testing is tricky! But we’re noticing similarities in Malaya’s vision that we initially observed with Iliana.”

Like Iliana, Malaya struggles with night blindness. “It’s hard when the light is dim at night, and they can’t see us,” said Anthony. “And if Malaya drops a toy, she has trouble locating it. Seeing them both feel around for things hurts.” The Gonzaleses have a follow-up visit for the girls with Dr. Duncan in November to learn more about their daughters’ vision status.

Eager to Learn More

Christine and Anthony Gonzales sitting on a circular outdoor bench with their children Iliana, Malaya, and Amari Gonzales, smiling together — The Gonzales family smiling at the camera outside on a street corner.

When Christine and Anthony heard about FFB’s June VISIONS conference in Chicago, they decided to attend and bring Iliana. During the information sessions, Iliana sat quietly beside her parents, dangling her feet over the seat as she beamed smiles to everyone around her.

The Gonzaleses were relieved to learn more about inherited retinal diseases (IRDs) and LCA at the conference. Anthony said it was impressive to see so many people managing well with a visual disability or blindness, but it was also emotionally challenging. While the information was beneficial, it confirmed that the repercussions of LCA would be a life-long journey for their family.

Excited to be at the conference with her parents, Iliana absorbed as much information as a five-year-old could. When the family returned to California, Iliana’s grandfather asked her about the conference. She quickly summarized her experience without missing a beat by saying, “They just talked about eyes!”

The Gonzaleses met the Hope in Focus (HIF) team at VISIONS 2024 and plan to attend the HIF Family Conference in Minneapolis, MN, on June 20-21, 2025. There, they hope to meet other families and members of the LCA community and glean more information and support to help them guide their children on this unexpected life journey.