Choroideremia (CHM) is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina. It occurs almost exclusively in males. In childhood, night blindness is the most common first symptom. As the disease progresses, there is loss of vision, frequently starting as an irregular ring that gradually expands both in toward central vision and out toward the extreme periphery.
At a very young age, my eye doctor saw something in my eyes that wasn’t normal. He sent me to see a specialist in the area where I was (mis)diagnosed with Retinitis Pigmentosa. (Which is what my family had always been diagnosed as having). At such a young age I didn’t understand what that meant for my future. Many years went by, into my 20s I knew my vision was starting to deteriorate but also knew there was nothing I could do about it. I couldn’t see my golf ball in the air after I hit it, I would walk into things on the floor, I couldn’t see at night to TP a friend’s house, I couldn’t see my teammates’ hands at the bowling alley trying to give me a high five after a big strike. Others didn’t understand, partly because I didn’t want to admit to them (or to myself) that I was going blind. I was in denial. I regularly trip over pallets, run into wet floor signs, I even remember running into a large cardboard cutout at the grocery store one time. It hurt when people would laugh, but they just thought I was clumsy. The only way to feel better was to laugh with them even though on the inside it was extremely depressing.
At some point I had heard that a family member was diagnosed with Choroideremia but knowing it didn’t matter at the time since there were still no treatments, I didn’t do anything to find out exactly what I had. A couple of years went by and I started to think that I should really find out what condition I actually have. I contacted my regular eye doctor about it and she sent me back to the area specialist who (mis)diagnosed me in the first place, who in turn referred me to Dr Heckenlively at the University of Michigan. My whole family and I went to U of M for an all day appointment which consisted of many eye tests and a blood test to determine what condition I actually have. It took 6+ months to get the blood results, but they came back showing that I did indeed have Choroideremia. I went back to U of M a couple of times in the next few years just to track the progression, with still nothing that could be done to help me.
One day I just happened to be researching Choroideremia and I saw that Penn University was conducting some research studies. I sent an email to the address on the page and shortly thereafter Cory emailed me back saying that he’d pass my information on to Dr Bennett at Penn. When I finally heard back from them at Penn we set up an appointment for me to come out and participate in their retinal imaging research studies. My dad, sisters and I drove to Philadelphia through the night for my appointment the next morning. We spent most of the day at the Perelman Center for Advanced Medicine doing tests. We even went to a Phillies game that evening and enjoyed some Chickie’s and Pete’s fries. We left knowing that they were working on a gene therapy clinical trial, but also knew it was a ways off. I made sure that they knew I was very interested in participating in the trial whenever it might happen but never thought I’d have any chance of being selected. I kept in contact with Dr Morgan just trying to keep up with how things were progressing with the trial. I hadn’t heard from her in quite some time, until Friday January 9th, 2015 at approximately 4:30pm. I was getting ready to go meet my dad for dinner before going to the Fairview girl’s basketball game when my phone rang. It was a random number from Maryland but I decided to answer it, and thank God I did. She said she was Dr Morgan from Penn (like I didn’t know who she was lol), there was a little small talk before she dropped the bombshell: they finally got approval to move forward with the trial and wanted me to participate in it. My jaw hit the floor and I was speechless. I don’t remember most of the conversation because I was in such shock that it was actually happening. I still have to go out there for more testing to be sure I fit the criteria to be included in the trial, but if all goes well I’ll be getting a subretinal injection within the next few months! I will do my best to keep this updated as I learn more. Thanks for reading!