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.