On the Mayo Clinic Ophthalmology Podcast, a patient and her mother discuss Leber congenital amaurosis and the first U.S. Food and Drug Administration (FDA)-approved retinal gene therapy.
Welcome to the Mayo Clinic Ophthalmology podcast brought to you by Mayo Clinic. I'm your co-host, Doctor Brittany Scruggs, and I'm your co-host, Doctor Eric Botham. We're here to bring you the latest and greatest in ophthalmology, medicine, and more. Today's episode is a very special one. We are joined by Anna and her mother Shelly to discuss what it is like to live with labor congenital amaurosis or LCA and understand the patient experience of receiving retinal gene therapy or Luxturna, the first FDA approved gene therapy in medicine. Anna was the first patient to receive Luxurna in the state of Minnesota after Mayo Clinic became an approved treatment center in 2024. Anna enjoys crocheting, fishing, water sports, and attending orchestra concerts. Her courage and undergoing gene therapy surgery helped pave the way for future children and families facing inherited retinal disease in our community. Anna's mother, Shelly, is also here with us today. Shelly has a master's degree in theology and previously worked as an archaeologist. In this conversation, we explore the diagnostic journey, the realities of raising a child with visual impairment, the experience of undergoing gene therapy surgery, and how life and vision have changed since treatment. Most importantly, we hope listeners come away with a deeper understanding of what patients and families experience long before they ever enter the operating room. Welcome, Anna and Shelly. So Anna, tell us about yourself. Tell us what makes you happy, what hobbies do you have? Yes, thank you. It is a pleasure to be here today. My hobbies have changed significantly since the surgery. And as mentioned, I enjoy water sports, crocheting, and recently have started collecting tamagotchis. You, you said you, I, I want to dive into before. I mean, as we set the stage, as people were introduced to you, can, we're gonna talk to your mom too. I'm a pediatric eye doctor. Brittany is a retina specialist that specializes in kids. But what was it like for you before you came to see Brittany Scruggs? What was your vision like growing up? The best way I can describe my vision before surgery. If you put on really dark sunglasses and then put 2 toilet paper tubes up to the ends of your eyes and then covered the ends of the tubes with Saran wrap. That's impressive and articulate and sounds tough. What was, did you have hobbies or what were you able to enjoy doing before then with that amount of vision functioning? My hobbies included. Drawing to some extent. Though I could not see the colors very well, especially yellow, that was quite a hard color to understand. I am still working on the names of colors. Because since I can never see them before, I never paid attention to the names. What was it like for school or to try to do sports? It was rather difficult as my early experiences with school, I was put in a special needs room. And there were only 2 other children who had visual impairment issues like me. And only one of the children came regularly. But the activities that we did. I had already done at home. So they would have me stick my hand in a box and feel what was in the box, but me and my mother had already done that. They would have me read and write in braille, but we had already done that too. Mhm So my question is for Shelly. Um, can you talk through when did you first know that Anna had any issues with her vision? Thank you for asking that. I noticed almost immediately after she was born, she didn't look at anyone or anything in particular. She had a very vacant sort of a gaze and although infants tend to be drawn to light, she could stare at the sun directly for an extended amount of time. So much so that it was unsettling and I went from doctor to doctor looking for answers, but was told repeatedly that there was probably nothing wrong with her. I was an older mother. I most likely didn't remember what it was like to have a child, and that's how all babies were. But I felt there was something wrong, correct, I felt there's something just not right here and so I went from pediatrician to pediatrician until finally in desperation I went to my doctor. And had a complete breakdown. I said, You need to send me somewhere where I'm listened to, where I can explain the difficulties that she seems to be having with her eyes and where those difficulties are acknowledged and taken seriously. And that's when she sent me here to the Mayo Clinic. And it was amazing the difference in patient care, empathy, and as I had mentioned, we had come to see you when she was probably 3 at the time for the listeners she's talking to Dr. Bothan as a pediatric ophthalmologist. Yes, yes, yes. When what age remind me was she diagnosed with LCA? She wasn't diagnosed until after we had come and spoken with you. I had gone through our um. Local school district we had a teacher for visual impairment and they still didn't have a diagnosis, but upon evaluating her they could see clearly she had some deficiency in her vision and so we started that route then. What was it like to finally get a diagnosis? Well, um, After experiencing the Chronic invalidation to have. An actual diagnosis was, although difficult because at the time we didn't think anything could be done, a relief. Um, finally, I had somewhere to start because if finally I had someone who would really listened and took the time to Look at my daughter. And determine, oh, you're right, you're right, there's a problem here. So before gene therapy, um, talk to us a little bit, and this can be to both of you, but what resources were the most helpful for you to navigate the world and go to school and do as many hobbies as you could. So walk through what life really looked like from a resource standpoint before gene therapy. Hadley was very helpful. I took Braille myself so I could. Instruct her in Braille. They gave classes on just about everything you could imagine and I took every single one of them. In addition to that, perhaps Anna can describe, we found a ski instructor. So she started, we, we downhill ski as a family and at Right under 3 years old, she began downhill skiing. So it's amazing. Yes, well, there is a little story that I might as well tell you. I was still on the bunny hill. It's about 1/3 of my way down the hill. And I believe if I recall correctly, there were many people on that hill, or at least that's how it seemed to me due to my lack of vision. And I didn't realize that another person was close behind me, which spooked me, and before I knew it, I was skiing down the hill backwards. The ski instructor used all auditory. Commands to instruct her on which way to go down the hill and how to navigate and he was quite um. He had quite booming voice, so other people tend to get out of the way. However, on occasion she still did get mixed up with her, which way is up, which way is down. And what was your preference for navigation? Did you use a white cane? Did you hold on to someone's arm? How did you get around town? Oftentimes I would stick with my mother and my brothers, but occasionally I would venture out with my cane. I had mobility training with it and my life was not bad, but there were situations maybe. That provided unique and not altogether my most ideal desires for life. What's the hardest part, Mom, about raising a child with vision impairment? One of the most difficult things was adjusting the entire family's dynamic. We had to move our house around in the sense that furniture couldn't be adjusted. It had to stay in the same spot all the time. We had several lights put in the house and we're Very, very, um, bright lights put in the house, um, and The anticipation of what she could or couldn't do as she grew was probably the most difficult. So although some of those, the uncertainty, yes, yes, definitely, um, as a pediatric ophthalmologist we deal and Doctor Scruggs knows this too from a retina side of things, um, we try to support families with resources you brought up Hadley. There's this transition into school age or near school age learning experiences, and it's, it's always difficult to know what resources to help and each school district, each school is unique in its ability and and resources. Can you just just highlight also then as you've changed the home life, how stressful was it to adapt the environment to support her in school? That was a bit of a challenge. National Federation for the Blind was very helpful in that regard because we live in a rural area and there isn't a lot of assistance out where we are. I found that Just digging into Anything and everything myself as much as I could was really the only avenue that I could go for her. So tell me when you first heard about gene therapy and what your thoughts were and questions and I'm Do you remember where what you were doing? I remember exactly. Excuse me, I get a little emotional. I will never forget. Uh, the call I received on the weekend from you, Doctor Scruggs. It was life altering news and it established a deeply indelible and significant moment in our lives to hear about gene therapy. Anna was swimming and I was sitting on the dock watching her. You explained to me the Lexurna and potential gene therapy that she may be eligible for. It it's Very true. Beautiful are the feet of those who bring good news. That moment. Will forever be Life changing. What was the biggest questions that you had, Anna, before as you heard that there was something that could be done to help your vision? I talked to Doctor Scruggs about it. And as soon as he started explaining. I just knew that you would be as careful with me as you would with your own daughter. So my questions We're not many. Yeah. I assume there was some level of nervousness or fear, but also you must have had great courage. But can you talk about what it was like to think about something that was new and as a reminder, being the first person in the state to receive gene therapy in the eye in the state. That's a that's a big deal, Anna. Yes. And I am so proud of you, but I know that that was, that was scary, right? I mean, those were nervous days. Yes, but the faith that in you, Dr. Scruggs, overcame that fear. And one thing I might as well mention is that when we first heard about that the surgery had only been done on pigs, my brothers teased me by pulling up a bunch of videos of pigs, and my mom actually got me a pig stuffed animal that I still have. For the listeners, I operate on a lot of pigs, um, but yes, you were so brave, and, um, we became, so there are for the for the people listening, there are 17 Luxurna sites now in the US, um, there are several other sites in non-US, um, countries, um, but you know we're one of 17 sites in this country and it is an honor and privilege to be able to offer this type of therapy. And so, um, I guess talk us through, uh, what was it like, um, maybe on the day of surgery. In terms of the the advocacy and the The care team, um, for maybe someone who's listening who is going to get gene therapy or for the physicians who are signing up their patients for gene therapy, what was your experience going through that surgery? It was wonderful. The care team was so helpful and generous, and I was very grateful because my mother was with me all the way until I got into surgery. And just some things that stood out on that day were the kindness that was displayed and I was very, very comfortable. The nurses kept bringing warm blankets and activities to keep my mind off the surgery and my auntie Molly called and she said, how's it going? And it was a very, very pleasant day. I have a question for Doctor Scruggs, or maybe she can, for the listeners out there that understand Lexturna is, you know, a novel groundbreaking approach in terms of changing a person's gene function in their eyes. Share with, uh, listeners out there that might not understand what you do, how is that treatment, you know, performed? Happening surgically when you um perform an external injection. Anna, are you OK with me talking about this? OK, sounds good. So when we do gene therapy, um, at least right now, the standard of care is to do first a vitrectomy. So we go inside of the eye. I like to think of it kind of like laparoscopic surgery. We use ports to enter the white part of the eye. And That allows me to remove all of the jelly inside of the eye, so the vitreous, once the vitrectomy is done, that gives me access to the back of the eye, and we use a tiny little cannula, so it's kind of like a needle, but it's, it's not sharp, um, and it goes through the retina. Um, and that allows us to get in that space between the retina and the RPE, which is the retinal pigment epithelium. So that's the layer of cells that the retina sits on, and those are the cells that are affected in your type of LCA, Anna. And so RPE 65 related LCA is what Luxturna is approved for. And so we put the medicine, the gene therapy, which is a clear solution. Um, in that space between the retina and the RPE, um, and that concentrates this virus under the retina, um, allowing the cells, the RPE, to be infected. So we're essentially putting a virus in that infects the cells and gives back the gene of interest. In this case, the RPE 65, um, the RPE then start to function appropriately, um. They have improved pump function and um they really are important cells to keep the homeostasis, essentially the environment of the retina, um, but also the visual cycle. It's really important that the RPE are healthy so that when light comes in the eye, it's sensed appropriately and the signal gets sent to the brain. So the surgery, um, to answer the question, uh, vitrectomy plus subretinal bleb, which is essentially a localized retinal detachment, and we do one eye and then about 10 to 14 days later we do the second eye. And then we get to hear what happened, but before, just for the listeners out there that care about numbers and visual acuity and ophthalmology, can you frame just kind of her visual functioning before surgery? Sure. So right at the level of legal blindness, so somewhere around 2200 in both eyes, but with significant night vision issues and peripheral vision loss. And as Anna so articulately put it, it's more like a tunnel vision, kind of with Vaseline in the center. So the central vision and the peripheral vision both are affected significantly. Yeah. OK, OK, can we talk about recovery and what happened? Yeah, I wanna know when did you first know something is changing? I was in the kitchen one day and I took out a red bell pepper from the fridge. The color of the red bell pepper was extremely vibrant, so much so I actually started to get a headache from looking at the pepper. Then we had after surgery, I was mostly downstairs and even then we had to put curtains on the windows which we had never had before because the lighting downstairs had never been enough. How soon after surgery did you start noticing that? Was that weeks or? I would say it was a week or two. So I, I'm going to weigh in for a second because I remember we were about to do the second eye. So only one eye was treated at this time. So we were somewhere in the 1 to 2 week frame. Um, time frame. And Anna told me, I just saw my first movie. And I thought that was really interesting that you were able to to see the TV and follow a movie visually for the first time in your life and you only had one eye treated. Yes, it had always been through audio that I watched a movie and one thing was I was able to ride a bicycle for the first time in my life. And that may sound sort of silly for someone of my age, but I never could keep my balance due to my lack of vision. Yeah. Mom, what do you remember in those early weeks? It was amazing. It was a little startling. We have a fall festival right across the street from our house every year, and Anna's always loved going to the fall festival, but typically when There was heavy cloud cover or nearing dusk, she would cling to me and immediately want to go home, no matter where we were. Well, after she had the surgery done, and this is both eyes, we were at the fall festival and it was getting dark out and she was still playing the games and dancing to the band and had absolutely no desire to go home. She just wanted to stay and I guess party the night away. Even when we went home, we were walking on the street since our house is quite close. And I was able to walk by myself without need of assistance, and I just found that absolutely incredible. So you're from a relatively small town and you, you were this child who needed assistance and then you had surgery and now you're like partying and walking around by yourself. Did people notice? I would say they did. It especially affected friendships with those who did not have LCA. But those who did, as I've met some from National Federation for the Blind Conferences and so on. I do not know so much that they would have noticed. So Brittany, how far, how long has it been and where does she stand now with her acuity and function in the clinic? Almost 2 years post Luxurna and your vision is in the near normal range in terms of visual acuity. Yeah, phenomenal. The most striking, Anna is a superstar patient, so it was always like such a good. Um, patient, when it comes to testing, I would say better than most of my adults. Um, but when it comes to like microprimetry, which is a great way to follow gene therapy results, um, the microprimetry, uh, I, I think we could show it on the, on, on YouTube, um, but it is, it is wonderful to see the improvement to go from essentially black to, do you want to share what it looks like now? Yes, I remember the 1st or 2nd time we had come in after gene therapy. You gave the news, Dr. Scruggs, that I'd gone 6 lines down on the chart. Which was just incredible. And before I'd always said when I was younger, I thought it was a test, so I had to do good on the test. Which line do you want me to start on? They'd say, oh, the top one. I'd say, OK, what letters are that? So they'd tell me the letters, and then I'd repeat the letters on the test. Mom, how, when you think back or think of where she was and what life is now, what's changed the most for you? What stands out as, as just remarkable reflections? I think it's remarkable how she's become more confident. In fact, it became very aware or very, very apparent, excuse me, to us when we were at a gathering with my sister and her best friend at their cabin. And Anna just ran downstairs to play ping pong with her daughter, whereas in the past she would never have done that. She'd always memorize a room and insist on holding my hand or being very, very near to me until she was comfortable in her surroundings. Now. She's so much more confident and um freer to move about. So what, what is your vision like to you now? You described it very well pre-gene therapy with the toilet paper rolls and the Saran wrap. Um, what, what is it like right now looking around the world? There is so much of a change. I sometimes say that it's almost like having 360 degree vision like an owl, uh. But playing ping pong, that was quite a struggle for me. The ball just seemed like a bird that hadn't taken the idea of capture and was just hovering in one place so long it tantalized you. And now, It's hard to even describe how my vision is. Are there challenges to your vision though you currently still manage, and if so, what would those be? I would say Most challenges were before my surgery. One example was unloading the dishwasher. I did not like to touch dirty dishes, but I never could tell if they were clean or dirty. So sometimes I'd end up putting dirty dishes with clean. And I didn't want to feel any everything, especially silver. And so now I can unload the dishwasher and see if the dishes are clean or dirty. So one thing that I, I do know is probably still a little bit of a struggle. Things look kind of bright. Right, so you still have to deal with like tinting of your glasses to make sure the world isn't overwhelmingly bright. Is that accurate to say, Anna? Yes, whenever we go down to the lake, I have to make sure to have my darkest pair of sunglasses. We've actually started to put curtains up in the home because of the light that is coming. And that's completely different than before surgery. We didn't even have opposites. You were adding light before. Now you're protecting yourself from light sensitivity. We didn't even have curtains before in our home because I just wanted so as much natural light as possible. And now when we came out of the parking ramp, for example, today. I was having trouble seeing the steps coming down to the stoplight. And so I actually had to stop, pull out a darker pair of sunglasses to see, and you could see the steps were. It's fascinating. Yeah. Do you have advice for other children and families? I'd like to hear your thoughts on other, you know, facing a similar decision, proceeding with gene therapy or even other intensive procedures that they're nervous about. I would say talk to Doctor Scruxs. As soon as you talk to her, you will know that gene therapy is a wonderful thing. And your parents care about you too. So if they say, let's move forward on this, I would greatly suggest getting gene therapy. And mom, do you have advice for other families that even if it's not LCA but managing similar big decisions in their life? I would tag on what Anna said, finding a care team that you really have confidence in. And that listens and is working actively to assist you is more important than anything. And we've found that here at Mayo Clinic when we're so happy and grateful for that opportunity. We definitely have the care team here is excellent and my favorite nurse, ALL, she always comes out to say hi and everyone is just so kind and thoughtful and making sure that I have time for breaks to rest my eyes in between tests. We have a bunch of doctors listening, um, typically these podcasts. Do you have advice for them on how they communicate with patients or deliver bad news? I would say the care and Understanding. That the doctor has really come through the most. impactful thing that Anna ever said was, Doctor Scruggs always gives me a hug. It meant so much to her and As a parent, seeing that meant so much and means so much to me. Well, you know, you know I love taking care of you and it's been a privilege. It's honestly it's an honor. So thank you for trusting us. It's an honor for me. Thank you. Um, my question for you is regarding like what you thought you were going to be pre-gene therapy and has that changed? It has changed quite a bit. I didn't think other people see differently than I did. I thought perhaps I'd be able to see a little clearer, but nothing close to what I see now. I did not know that my peripheral vision would improve so much and has it changed how you think about your own future? Like what you would do as an adult and obviously things could change, but I'm just curious how you, how you perceive and think about your future. To some extent during that time since I was 12 when I had the surgery, I was not exactly thinking about my future and where I would go ahead, but people would often say, what are you gonna do since you have LCA? And I was rather confused by that question because I did not understand what they meant as I thought everyone saw like I did. Yeah It's good to remember. It is, it is. I just, I, I just thank you both for coming and having the courage to be here and to share your inspirational, you know, we're hearing stories like this, you know, we, we try to help patients, um, whether in early diagnosis or in tough decisions or even in outcomes that are not as highly hopeful as we would like to achieve, and it just, it's just inspirational to see your life change through. Science through healthcare through the hands of people that care and um just exciting to see as Brittany's talking about your future, what your life is gonna be with this new vision. It is wonderful to have received Luxurna gene therapy, and Doctor Scruggs is the best doctor in the whole world to get this treatment from. Thank you. Thank you both for sharing your story, um, the struggles, the challenges. I know that this has not been easy. Um, so we appreciate you for being here and sharing. Um, and thank you for sharing with the world what it's like to go through this experience. Yes, thank you. It's a pleasure to be here today. You can find all episodes of the Mayo Clinic Ophthalmology podcast on our website, YouTube, or in most podcast platforms. Thank you for listening and we definitely look forward to sharing more on our next podcast.
