To watch the presentation by Dr. Bart P. Leroy at EURETINA, please click on the link at the end of this article.
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The first pediatric patient in the world to receive voretigene neparvovec did so as a child as part of the phase 1 study, which took place in Philadelphia, PA, USA. Over 10 years later, and now a young adult studying psychology at university in Belgium, he spoke with Dr. Bart P. Leroy to share his experiences.
Bart P. Leroy, MD, PhD: Prior to receiving treatment, what symptoms did you experience living with an inherited retinal disease (IRD)?
Patient: It was a long time ago, so my memories are a bit limited, but my father tells a story of being on a family holiday in Turkey. In the bright sunlight of the daytime I was able to run around the swimming pool with my sister with little sign that I had any visual impairment. However, in the evenings when we went out to eat at a restaurant, I couldn’t see a thing on my plate and was basically blind. That’s something that I remember quite well—when I was inside, during winter, or when it was dark outside, I couldn’t see anything. I was basically completely night blind.
Dr. Leroy: What do you remember about the treatment itself?
Patient: I remember that after the surgery when all the patches were removed it was painful because of the light. The doctors wanted to look into my eye using a torch, which really hurt because I wasn’t used to that amount of light. Then, when we left Philadelphia, we flew out in the evening after dark. When the plane took off, I could see the lights of the city with my right eye—the eye that had received the treatment—but I wasn’t able to see them with my left eye. With my left eye it was completely black.
Dr. Leroy: How did this treatment impact what you do on a daily basis?
Patient: It has greatly affected my day-to-day life. Before the treatment, I worked completely in braille. After treatment, I started working on the computer with the aid of magnification. In my free time I use my vision to do things that I wouldn’t have been able to do without having treatment. In the week I live alone, and I’m more mobile now. My visual field is still not normal, so I do use a cane, but I use my cane in a different way than a blind person. I don’t follow walls or guidelines with my cane—I navigate around a city visually. I just use my cane for safety, in case of an object that I haven’t seen and also as a signal to others that I’m visually impaired.
Dr. Leroy: What message would you have for clinicians who may be seeing patients with IRDs such as yours?
Patient: My message would be that this is a really important treatment for two reasons. One is the visual improvement. Although my vision is not perfect, the improvement from what it was like previously makes a huge difference in day-to-day life. The second reason is something that, in my opinion, is underestimated, which is stability. I know that without treatment I would have been completely blind by now. Comparing the vision that I have today with the prospect of complete blindness makes me really value the stability of my vision.
Dr. Leroy: Your parents have previously described to me how they had to visit many different eye specialists before finally receiving your IRD diagnosis. What do you think about being referred as a patient to a super-specialist center?
Patient: It took my parents 7 or 8 years just to know the name of my disease and what caused it. If you are a doctor examining a patient, and you don’t know for sure what condition they have, I think referring them to someone who is a specialist in that area is one of the best things you can do.
To watch the presentation by Dr. Bart P. Leroy at EURETINA 2019, please click here.