Tuesday, July 11, 2017

The horse has left the barn

After a handful of failed attempts at writing the latest update on the current situation, I feel like I'm coming up empty handed. Putting everything into words is difficult, to say the least. A few weeks ago, Margo and I were fortunate enough to visit the Doheny Eye Institute in Pasadena, California. We were on a mission for me to be evaluated by some of the best neuro-opthalmologists modern medicine has to offer. These people have a level of care and understanding for the inner workings of the eye that are unparalleled. Additionally, they see more patients with LHON than any other doctors in the world. For a disease this rare, that means a great deal. Many ophthalmologists can go their entire careers without ever seeing even one patient with LHON, hence the frequent misdiagnosis of said disease. An interesting fact that blows most people away, myself included: each year, roughly 100 people in the entire U.S. are affected with LHON. A few more things worth noting with regards to LHON: the average patient (especially my mutation) is typically male and around 15-25 years old, so I'm considered late onset. While we are discussing averages, roughly 80% of patients begin with vision loss in one eye, just like my case, and it progresses from there into the second eye within 1-2 months (fast cases can be 1-2 weeks or less). From there, it moves quickly to legal blindness once the second eye is involved. Generally speaking, the vision change lasts for 6 months on up to about a year. At this point, things are mostly settled for the long haul.

As of today, I'm at 4 months in and not currently classified as legally blind (or at least I believe that to be the case, although my vision has rapidly regressed since the Pasadena visit so I really don't know).The long and short of things here is that the doctors believe I am a viable candidate for this study. However, after their thorough evaluation, they believe I'm a mild enough case that it would be too much of a risk to enroll in something that isn't yet proven to have significant results. I glossed over a huge chunk of information there that explains the "meat and potatoes" of their decision, but basically I'll just stay on a supplement that has shown positive results for some candidates here and there in hopes that it works out in my favor. It's a Hail Mary of sorts, but so was the gene therapy study.

So where am I at currently with regards to both the physical and emotional adjustment? I've always been an extremely social person and the love, support and compassion I've received from Margo, my family, her family, and our friends has been nothing short of amazing. Often times, I feel as though nothing is worse in my life at all, but almost everything takes more work. Tasks that were once "brainless" now feel like an eternity (see: shaving, nail clipping, drafting emails, the list goes on). Parting ways with driving has proven to be as difficult as you would imagine but also a smart move. I'm still adjusting to the change, although as my good friend Chris put it--do you want to stop driving too soon...or too late? In the end, I may have been able to squeeze perhaps one more week or two in there, but the risk wasn't worth it. Unfortunately, at this point even crossing the street is a challenge and I have a new found appreciation for all of the sounds that have been implemented into traffic signals for pedestrians. And if you thought grocery stores were overwhelming for someone with 20/20 vision, I can tell you it brings me to new levels of anxiety. Let's just say you probably don't want to delegate me to find you the can of black olives, lest you find yourself instead with a can of black beans (perhaps I did that recently...whoops.).

We had a lengthy Q & A period with our doctor in Pasadena, part of which we delved into the "why" and "how" this disease was set in motion. His blunt reply at the end of that particular segment, which resonated with us beautifully: "the horse has left the barn". You can look in the rearview all you want, but at this point it's better left to the professionals who have devoted their lives to figuring out this goofy neurological Rubik's Cube. I'm not certain there will be a fix for this in my lifetime, but I remain hopeful. In the meantime, I have been working hard at learning the ropes of the visually impaired and connecting with new found friends who share similar struggles. The assistive technology available is extremely impressive and helpful. Talking to those who have been through this before me has been immensely helpful and hearing their stories blows my mind. It gives me strength, perspective, and understanding for my road ahead. I can only hope I handle my situation with as much grace as those I'm being mentored by. I'm still in the infancy of my journey, but someday I hope I can help others as much as everyone else is currently helping me.