Unexpected possibility
I had an unexpected, last-minute appointment with my eye doctor today. I’ve been seeing more floaters than usual, enough so that it’s been a distraction during the day, and my right eye has felt more strained by the end of each day. While floaters are quite common, I have lattice degeneration of the retina, a fancy way of saying my retinas are thinning. Given my recent health scare that turned out to be an actual real scare, I wanted to get my eyes checked out.
I met with my eye doctor, someone I’ve worked with since middle school, and provided him with all the observations I’d recorded about my eyes. I also provided him with a list of things that had changed since I last saw him that might’ve caused the increased strain and number of floaters: increased screen time, a change of contact lenses, increased stress, and my new medical diagnosis. He asked me a bit about the diagnosis: what it was, how I found out, and what it was called, before leaving the room to let his assistant dilate my eyes using medicated eyedrops.
The eyedrops take about 15-20 minutes to take into effect, so the physician came back shortly afterwards. He was able to then examine the back of my eyeballs (neat!) and determine if there was anything concerning, such as a tear, happening back there; thankfully all looked good. As he was sitting in front of the computer examining images of my eye, he suddenly asked if it was true there was no treatment for this disease. I confirmed and we went back to discussing my eyes.
Afterwards he finished up our visit and dictated next steps with his assistant. He was getting ready to exit the room, body facing the door and hand on the door’s edge, when he paused, looked at me and said, “there are gene therapies out there you know”.
I froze.
He explained a bit more about gene therapy: how it uses viruses as a vehicle to deliver the therapy (treatment) and how it’s been used for other cardiac conditions. Then he said goodbye and headed out to see his next patient.
I just googled “gene therapy ARVC” — it turns out a San-Francisco based biotech company Tenaya Therapeutics is conducting the first ever in-human study and clinical trial targeting the PKP2 genetic mutation associated with ARVC (this is the genetic mutation I have), and the trial is scheduled to begin during the second half of 2024. In fact, there have been two other PKP2-specific research studies on mice that show potential for gene therapy to combat the effects of ARVC; both were published less than a year ago in Dec 2023 and Jan 2024.
It’s crazy — the little, random interactions and brief moments of connection that can have a ripple effect on our lives. Gene therapy wasn’t something that had crossed my mind as an option, but this unexpected interaction with my doctor provided me with an unexpected possibility. This person, who I see maybe once a year and whose only obligation to me is my eyes, cared about my heart; he saw me as a person, not just a patient. I didn’t ask how he knew or what he researched, but I imagine he did a quick search while I was waiting, wanting to learn more and wanting to share because he cared. It’s moments like these where I’m reminded of how good humans are and how enormous our capacity for love and kindness is, despite cynicism and the news telling me otherwise.
To be fair gene therapy is not a cure-all — hell I only spent half an hour Google searching. I don’t meet the inclusion criteria for Tenaya Therapeutics’ clinical trial and I don’t know if it’ll even be successful. But for the first time, it feels like there’s a real possibility that all of this might not be for forever. And for the first time, I feel a glimmer of hope in this new reality.
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Sidebar: It is also incredibly funny how life turns out. Gene therapy is a type of precision medicine, which is the topic I was researching at my old job. While my work was focused on precision medicine for oncology, it’s wild to think that I was researching and strategizing about a treatment methodology that will likely be the best type of treatment for me.