Raising my hand for inherited retinal disease (IRD) research

March 4, 2020

Susan Purr’s vista changed after her father stumbled across a National Geographic article spotlighting advancements in inherited retinal disease (IRD) research.

Susan Purr and her husband, Stuart, celebrate their 1999 engagement.

During my first year of life, my parents noticed that I was having problems with my eyes—I wasn’t seeing the way my siblings had, and my eyes moved around a lot. After many tests and visits to eye doctors and specialists, they determined that I had a rare retinal condition called Leber congenital amaurosis (LCA). At the time, there was not a great deal of available information about LCA. Doctors told my family that I would have limited sight, and light sensitivity, and that I could eventually lose all vision entirely. They added that there was no treatment and no cure.

Aside from a few minor accommodations, I grew up pretty normally. My eyesight was stable all the way up through college and grad school, and even into my first “real” job. I couldn’t drive, but I could read regular-sized print and travel independently. I started noticing a decline in my sight at around age 27 but it stabilized again, and so I went on living my life. It became clear that retinal specialists knew of LCA academically, but that there was a lack of available information about current research into the condition. Although it is the most common cause of blindness in children, LCA still only occurs in two to three out of every 100,000 births.

But by age 40, I noticed a great deal of decline in my sight. I have gone through two cataract surgeries, which improved clarity, but the LCA has now progressed so that now I cannot read print without extreme modifications. I have a hard time recognizing faces, and I cannot travel independently without a cane. Perhaps it will come as no surprise that all of this has plagued my spirit. Forgive the pun, but I have had many dark days.

Last year, my dad found an article in National Geographic about a huge scientific push in the fight against blindness. Of course, I was excited about what I read and started digging through countless online resources, looking for more information. I found the researchers involved in some of the most promising studies, which led to emails, blood draws, genetic tests, phone calls, and finally, a year and a half later, I went up to Pennsylvania to meet with researchers.

Susan and her father, Dave. It was her dad who encouraged Susan to look into the latest gene therapy research efforts for LCA.

Clarity of my diagnosis
Often, one of the benefits of volunteering for clinical research for inherited retinal diseases is finding out more about your condition through genetic testing. That was the case for me. To be honest, getting the results from my genetic test was overwhelming. To know that the information helped someone understand my disease to the point where they knew where to locate my mutation, was like looking at a map and saying, “It’s right there!” I remember calling my dad laughing and crying and saying, “They know what it is!” He and my mom were ecstatic. My husband was thrilled. And me? I can’t even put into words what it meant to identify the cause of my disease, understand more about my condition, and then discover that someone was working on my specific mutation.

I now know more about my specific form of LCA than I ever knew in my life. It is caused by two mutations in the CEP290 gene. I have only 30 percent of the cones as a normal eye. The rods and cones that I do have are healthy, except for one problem: the cilia on my cones are not working well right now. To understand the function of the cilia on our retinal cells, think of a TV antenna. If the antenna is damaged, the signals won’t work right. The antenna of my cone cells are broken and that prevents my eyes from seeing correctly. It just so happens, however, that a research team in Pennsylvania is working on that problem!

I can’t even put into words what it meant to identify the cause of my disease, understand more about my condition, and then discover that someone was working on my specific mutation.

Joining a clinical study
Once I identified the research being done, I didn’t have a second thought about joining it. Growing up, people said to me, “They’re going to come up with something.” They said it my whole life, but nothing happened. I had finally resigned myself to my fate, but when I saw the National Geographic article, I didn’t hesitate. I was like “Sign me up. I will do whatever I need to do to keep the research going!”

I’m excited to be part of the research effort to fight my form of inherited retinal disease. The scientists I’m working with seem very confident in their efforts. I need this confidence badly. Leber congenital amaurosis is extremely rare and I’m ready for science to go after it. It probably goes without saying that I am hopeful the study is a success. I certainly have never known “perfect” vision and, to be honest, that’s not what I need or expect. It would be enough to simply regain some of what I have already lost.

No one knows what the future will bring, but I’m ready for the ride. Buckle up, everyone. Here we go!

Susan Purr

Susan Purr, recipient of the 2019 Irene Adler Prize, is working toward her M.F.A. in creative writing. She lives with her husband and 14-year-old daughter near Charlotte, North Carolina.

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