My family and I are just back from a trip to Pennsylvania, where I knit quite a bit, we visited with Day's (that'd be my husband) family, and visited an eye specialist in Philadelphia, at the Scheie Eye Institute Center for Hereditary Retinal Degenerations. Our family and friends have wanted more details about this doctor visit, and now that we have filled in the closest family, I thought I would provide some information here for those who are interested. If you aren't interested in that, skip this post and know that we'll get back to the yarny things soon.
A little backstory: Day was born with a hereditary condition called Retinitis Pigmentosa (RP). His RP was diagnosed when he was about 14 years old, when he began to have vision trouble in low light situations. At the time of his diagnosis, he was told that he had X-Linked RP, and often the progression of this disease leads to complete blindness by age 40. Over the years, Day has participated in several scientific studies that have aimed to slow the progression of the disease. We believe that this research and his participation in these studies has led to a slower progression, where at nearly 45, he still has useful eye sight, though some situations and environments are particularly challenging.
Several years ago, Day discovered that researchers were working on gene therapies for specific genetic defects related to RP, and found that that most common form of X-linked RP was related to a gene called RPGR (or RP3). Day researched and found the Carver Laboratory who could test his blood and determine what gene was causing his RP. The results of this testing were promising, because it was confirmed that he had a common form (RPGR with the ORF15 exon). We both felt that this was good news, because it would seem that the most common forms of the disease would be the focus of the first treatments.
After that information, Day began reading abstracts and gaining information about what sort of research was showing promise. Through a somewhat convoluted process, he was put in touch with Dr. Jacobson and the research team at the Scheie Eye Institute. He has been emailing back and forth with Dr. Jacobson and Sharon, the genetic counselor, for a couple of years now, and was told that when they were closer to a human trial, they would contact him to schedule an appointment. (In order to be considered as a candidate for participation in clinical trials, Day needed to be assessed by Dr. Jacobson and his team.)
While waiting for that scheduling call, Day followed the studies that precede a human trial for a new therapy, and knew that they were in their second animal test, and that the results coming from a study on dogs were encouraging. Day also researched the necessary steps to getting to a human trial, and discovered that two animal models needed to be completed, funding for future studies needed to be secured, safety data needed to be collected and protocols needed to be written, then there would be a meeting with the FDA to determine if approval could be granted.
So, we were called to schedule an appointment in February, and we made plans to go to Philadelphia as soon as we could. We were told to plan to be at the facility from 8:30 AM until 6:00PM, so we prepared for a long day. We expected that the testing would be similar to the testing he had done at previous research studies: visual field testing, testing of night vision, color vision, and an ERG. The tests involve heavy dilation of the eyes, so someone needed to stay with the him, helping with getting around, gathering food and whatever else may help, and that was my role in the day.
The process began with determining Day's current eyeglass prescription, and other activities typical of a standard Ophthalmology visit. Then we went upstairs to the research area, and they tested color vision, and Day began clicking buttons to let them know what he could see.
Dr. Jacobson and his crew had discussed the characteristics of an ideal study patient, and had determined that, at least at this point, their ideal candidate would have "large swaths of peripheral vision" that could be treated with the therapy.
At some point in the day, it was determined that Day had these large swaths of peripheral vision, so Dr. Jacobson looked at the preliminary tests and altered the tests that were planned for Day to include further testing of his visual field. This was done to ensure that he was a good candidate for future trials, and to minimize our need to return to Philadelphia for more testing.
So, from this point on, Day was completing a Goldman Visual Field Test, which you may be familiar with if you've been tested for Glaucoma. They tested both eyes, in both light and dark adapted situations. The tests took about 9 hours, according to Day. (I was in the waiting room visiting with the family of another patient, knitting and listening to podcasts.)
At the end of this testing (about 9:30 PM), the test administrators Rebecca and David went and met with Dr. Jacobson, and discussed what they had found. Then Dr. Jacobson came and met with Day, looked at his eyes, and then brought me into the room.
Together, we talked about how Day could best use the vision that he still has, what nutrients and supplements may be useful to strengthen his eyes, and finally, the fact that Day was, at this point, a prime candidate for the research they are planning. Dr. Jacobson described himself and Dr. Cideciyan as people who don't get extremely excited by the research they see very often, and he said they were very hopeful and encouraged by the canine studies that are occurring now. At about 11:00PM, we finished meeting with Dr. Jacobson, left the facility, and drove back to Allentown to meet back up with Ethan who had stayed with the family there.
Now that we are back home, we are sort of in a waiting game. Dr. Jacobson had some advice for how Day could make the most of his vision, so we will be trying out his ideas. We are working on adding Lutien to Day's diet (actually we were already doing most of that anyway, so this is just adding a supplement), and continuing his high doses of Vitamin A Palmitate, and we are waiting for a call that says that the time has come for the treatment. We were told to expect to hear from them when they are ready to begin a trial, and thanks to Day's dedication to keeping up with the research, we should be able to see the progress as time passes.
When that call comes, Day will have a choice to make of whether to take the treatment or not. The treatment will be injecting the gene therapy into the sections of his retina where the vision in those peripheral ranges was strongest. It will be intended to stop the progression of the disease in those areas. At this point, Dr. Jacobson is not planning to treat the central vision areas, for complicated reasons, but that may become an option in the future, or something else could help with that down the road. There is obviously some risk with a clinical trial, so the doctors are trying to balance risk with opportunity to provide the most useful amount of vision for the longest period of time.
Despite the fact that it was a very long day, it was extremely encouraging. The faculty and staff of the Center for Hereditary Retinal Degenerations were extremely kind, considerate, and helpful, not to mention dedicated to helping people facing blindness. Meeting with the head of the research program until 11:00 at night, researchers who continuously offered to help us in any way they could throughout the day and evening, getting the news we had hoped for, and finding that an answer was potentially close made this long day feel very good.
I know this post has become rather lengthy, but I was so impressed by the people I met at the Scheie Eye Institute that I feel like I have to say more.
While we were waiting, we met a family who has a son with a different condition. His vision is at least as diminished as Day's vision, except that he is 16, not 44. I didn't ask to share their story, so I won't say more than I've already said, but if you remember the things your were considering at 16-17 years old, and imagine making those decisions with blindness factored in, you can begin to understand what they are facing. Add to that the fact that they were told that they are at least 5 years from a treatment, and you'll begin to understand how incredibly fortunate our family feels.
The study that Day is interested in is now funded by a pharmaceutical company (which is actually making it possible to move forward at all), but one thing preventing further research is money. I wasn't asked to do this, and money was not mentioned to us while we were there, but if this post, or the thought of the family we met there compels you to give financially, you can do so at either of the following places: