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.

Friday, June 9, 2017

The new normal

It's pretty common for someone in their early 30's to need corrective lenses, so when I noticed a blur in one eye, I did what almost anyone would do: I promptly called an optometrist and scheduled an appointment. The symptoms, which mostly included more of a blind spot rather than a blur, appeared to worsen even in the span of a week. A little bit of a back story here: my mother dealt with fairly extensive vision issues the last few years of her life and was diagnosed with "Leber's Hereditary Optic Neuropathy" (LHON) in 2013. She had so much going on with multiple types of cancer that none of us, herself included, gave that diagnosis the credit it was due. "It's probably all of the chemo and radiation, right?". She gave us the particulars about LHON, explaining that it's a genetic mutation that a mother passes down to ALL of her offspring and told my brothers and I that we certainly carried this gene. It often lies dormant for many carriers, but on a certain percentage of people it will eventually surface. I did the usual light Googling on the subject and didn't think too much more about it. When the blind spot popped up for me in March of 2017, LHON was in the back of my mind. But it couldn't be? There's just no way that would happen to me, surely it's something else. After a week of symptoms and the optometrist appointment looming still two weeks away, I couldn't handle the suspense. I contacted a friend whose father is an optometrist and he was kind enough to call me, even on a weekend. After a series of questions he suggested that I visit his retina specialist immediately. Impressively, I was there the next morning getting tested and having my eyes dilated. The retina specialist concluded my retinas were fine, but there were obvious deficiencies. He referred me to a specialist at the University of Washington, a neuro-opthalmologist named Dr. Courtney Francis. Interestingly enough, she had worked with my mom and diagnosed her with LHON, so when she saw my name pop up she was immediately concerned and ready to take action. She and her crew ran their own set of tests, concluding that I had pretty good vision. They also noted I was passing all of their tests quite well but there were clear deficiencies and I was falling through the cracks in places. Additionally, I had a swollen optic nerve in one eye--common for someone in the acute phase of LHON. With a newly established baseline for her to see with regards to my ocular health, she concluded that I would have to return in a handful of weeks to reassess the situation. On May 25th, 2017, my fiancee Margo and I anxiously walked into UW on Capitol Hill hoping for positive news. Dr. Francis and her team once again ran through the tests. Her conclusion: my vision had noticeably regressed in a span of weeks and I was formally diagnosed with LHON. Margo and I were both a mess after we heard this devastating news. A million questions and emotions popped into my head knowing that I was officially careening towards legal blindness. Why this? Why me? Why now? How is there no fix or cure available for this? I can't just get glasses or lasik and be done with this?

Armed with very little knowledge or understanding about what all of this meant, or what was ahead, the next couple of weeks were terrifying. I was depressed, sad, upset, and angry. This isn't fair and it isn't right, I told myself. After a few days of sulking I picked up the paperwork my doctor had given me that had just been sitting on my kitchen table. It detailed the available resources and who to reach out to for help. Through that, I started looking at LHON.org and that website led me to a Facebook group. Considering how irritating social media often seems to be these days, it's comforting to know that in situations like this, there's quite a bit of good that can come from it. For every ridiculous "what type of (insert whatever you want here) are you?" quiz, there's also entire groups of people with rare diseases that connect with each other and help one another out. Since joining that, I've now been fortunate enough to have access to a plethora of people who either have this disease, or are closely related to someone that does. It's a unified front against an incurable disease and we are all fighting the same fight. I've also been able to realize that in an odd way, I was fortunate to reach this diagnosis as quickly as I did because my mom already had this disease. Many people go to hell and back trying to figure out what is causing their vision loss and it often takes many months to arrive at a final resolution. Knowing what I have and being able to put a plan in place is really valuable and it helps keep the emotional side of this in check. If I didn't have this network, especially my friends, family, and fiancee, it would be easy to slide into a very dark place and let this take over my entire existence. I could sit around and be upset and complain about it, but we all know that's not the type of person I am and I certainly won't let myself turn into that guy.

As I'm wading through the murky waters of what my doctor calls "the acute phase", the tricky part is navigating this new normal. How extensive is this vision loss going to be and where is my "trough"? It's different for everyone and nobody can predict where it will ultimately settle. How do I continue to feel and actually BE productive with my career? I haven't 100% decided yet, but I'm pretty sure the last time I will ever drive a vehicle has already happened, which is an odd thought. Although, I never loved driving to begin with, so there's that. I'm finding that those I've met and talked to who are afflicted with LHON live incredibly wonderful and fulfilling lives that aren't different at all than anybody else you know. I've also been told by my doctors that almost nobody with this disease fully loses vision--just central vision with peripheral intact. As a person who is under 6 months from my first symptoms, I'm also eligible for enrollment into an experimental study at the Doheny Eye Institute in Pasadena, California. This study is headed by some of the best ophthalmologists this planet has to offer and can also lead to break throughs for other diseases that are adjacent to mine. Margo and I will be flying to Burbank this weekend for an appointment to see these doctors on Monday. We hope they will accept me into this program, but there is no guarantee at this time. No word yet on some crazy glasses that turn me into a real life "Geordi La Forge", but stay tuned on that one.

In the mean time, you can expect me to continue being me and living my life as I always have. I've realized that even if I'm no longer able to drive or that reading much of anything becomes difficult if not impossible, my vision is only one aspect of who I am and what makes me "me". There's still an expansive amount of things I can experience and offer this world. This is a huge hurdle and it's not going to be easy, but I'm confident in my support system and I'm lucky to have so many wonderful people in my life. Most importantly, I'm confident in myself.