For the remainder of 2017, I successfully blocked everything out as best I could and enjoyed the holidays with Finn and our families as intended. But, January came and with it my maternity leave was over and the second surgery was looming. Returning to work full-time after having a child is a struggle — I think all working moms will attest to this. For me, I also felt I had been robbed. I had envisioned this beautiful three months off work to bond with my son and I had, but it had also been wrought with the cloud of uncertainty and fear. I still hadn’t processed everything completely and for the first few months back, neither my head nor heart were really in it. The best word to describe this time was just BLAH. I was going through the motions. Luckily I get to work from home so we decided to get a nanny instead of going the daycare route to ease the transition for us all. We weren’t ready to put Finn in the hands of someone else outside of our home not knowing yet what his needs may become.
Finn’s second surgery was on the books for January 30th. The holidays were behind us and we had yet to hear anything back from the genetic testing. I started calling the dark hole that is Vanderbilt Children’s Hospital’s phone system. Don’t get me wrong, I have many wonderful things to say about VCH. In fact, my husband and I worked there as “comfort cart” volunteers the year prior to Finn’s birth. I never in a million years thought then as we roamed the different floors offering comfort items to families there with their sick children, myself pregnant at the time, that we would be among the parents on the receiving end of treatment there for our child just a year later, but such is the irony of life. (I knew then, and I know now, that there were and are children there dealing with much more serious and dire conditions than what Finn has and not a day goes by that this is lost on me.) VCH is a wonderful hospital with exceptional doctors, but, it is also a busy place where every person calling is likely a parent or caregiver desperate for answers and help for a child just like we were so we sometimes felt lost in the shuffle. This was one of those times.
It took no less than a dozen phone calls and voice mails for me to get a call back from our genetic counselor and that was only after I left a tearful message on her personal cell explaining that Finn was scheduled for surgery and I desperately wanted a diagnosis to ensure we were doing the right thing by proceeding. Just a week before the surgery, I finally got a call back from our sweet and unsuspecting genetic counselor. I was in no mood and patience had worn out so I completely lost my cool and let her have it for leaving me hanging for so long. In these instances, your child is the only child in the world. After screaming at her about my child’s health, her lack of responsiveness and sense of urgency, I stopped and realized the results we’d been waiting for might finally be here. I braced myself for Norrie’s Disease — at this point I had been convinced this was Finn’s fate. Instead, she said that everything they’d tested for came back negative. NEGATIVE. I couldn’t believe it. I wasn’t sure whether to celebrate or cry. I’d been desperate for answers – for a true diagnosis and something we could treat, for lack of a better word. With a diagnosis, even if there was no cure now, maybe one day there would be. Without one, what did we have? I felt so relieved on the one hand that Norrie’s and other frightening disorders seemed now ruled out, but terrified on the other hand that something worse would be looming, something we hadn’t prepared ourselves for. With no diagnosis, we didn’t fit into any group alongside other families who could turn to one another. We didn’t have a blueprint for what to do next. We were on our own.
With that came a very unsettling feeling so we pondered doing a second panel of genetic tests. The first test looked at about 20-30 potential disorders that cause blindness at birth and were in line with Finn’s symptoms. The second would look for another 20 or so that are linked to blindness, but weren’t necessarily close matches for Finn’s symptoms. I’ve learned a few things with genetic testing: 1. Without a positive result, you can easily fall down the rabbit hole of looking for answers forever. For example, if Finn were to show a new symptom a few years from now — say loss of hearing, we could then go back and test for a slew of other disorders that cause hearing loss. 2. There are a million different genetic codes and disorders so there’s no way to just test for everything (even if you are an irate and desperate mom pleading with the geneticist to do so). You have to know what you’re looking for. 3. They are extremely costly even with good insurance. Despite all of this, we had a blind newborn and no idea why so we continued down the rabbit hole a bit longer and ordered the second test. I wasn’t ready to give up.
Around that time, my mother-in-law attended a luncheon where she lives in Pasadena, CA. As fate would have it, at this luncheon she met a retired pediatric retinal surgeon with whom she struck up a conversation about Finn and our struggles to find a diagnosis. Shortly thereafter I received a call from this very kind doctor who wanted to help. She explained that without seeing Finn there was only so much she could offer in terms of diagnosis, but she also mentioned both FEVR and Norrie’s Disease. Her suggestion for us was to get a second opinion before we proceeded with surgery. She told me of another retinal surgeon and researcher in Detroit who was of the best in the country. We’d actually heard of him before as our surgeon here in Nashville studied under him. She offered to make a few phone calls to see if she could get us in for a second opinion before Finn’s surgery which was scheduled the following week. I called his office the next morning and was given two options: 1. Fly to Detroit the following morning for an office visit OR 2. Cancel the surgery we had scheduled with our surgeon in Nashville, fly to Detroit, spend two nights there and have Finn examined under anesthesia with the possibility of proceeding with surgery on the spot. I had no idea what to do and time was not on our side. I told the receptionist I’d call right back and immediately went to Patrick with the options. We were torn — everything was so rushed and we still had no genetic test results to give us a definitive diagnosis so it all felt like a big crap shoot. All I knew is that I had to try everything for Finn, but the thought of switching surgeons last second and staying days in Detroit felt too unfamiliar and overwhelming. So, we went with option one. We booked flights that evening, took a 6am flight the next morning and despite flight delays and our being serious rookies when it came to traveling with a child, or to installing a car seat in a rental car for that matter, we somehow made it to our 11am appointment. I remember boarding the flight with excitement — it was Finn’s first flight and we felt we might be on our way to see Finn’s savior — the best doctor in the country who could potentially save his vision! Woo hoo, let’s go!
Well, I’m sure you can see where this is going. I’d say this doctor’s appointment was the worst we’ve ever had to date. Dr. Death, as we now call him, was not Finn’s savior. He spent maybe 15 minutes with us — Finn’s eyes were dilated and then he used these horrific metal tools to pry his eye lids open, took a few minutes to examine them and then he was done. He told us that his opinion is that Finn likely has Norrie’s Disease despite our genetic tests coming back negative. He said that genetic diseases only show up in 48% of tests (so what the hell is the point?!?!) and that his clinical diagnosis was Norrie’s. I told him that Finn was rolling over, smiling and hitting his milestones, but he disregarded that as any sign that it could be something else. He then went on to tell us that children in European countries with Norrie’s are often put in “wards” and to brace ourselves for the future. I don’t think I’ve ever been dealt a tougher blow nor heard more crushing words. This supposedly renowned, amazing doctor was losing credibility with us by the second. I don’t care what the reality or diagnosis may be, no mother should ever be told the words, “kids like yours end up in wards.” I understand that doctors have to provide information, facts and/or their expert opinions, but bedside manner and the way that information is delivered is crucial. I didn’t even think the word “ward” was a thing anymore! I could have sworn we’d been transported back to the 1950’s. Dr. Death said he’d keep Finn at the top of his list if any cutting edge research came to the forefront and affirmed that we should indeed proceed with the second surgery because “it can’t hurt.” I took Finn into the restroom, holding back tears as I fed him and changed him and then we walked out. It was freezing, gloomy and snowing outside — the weather matched my mood perfectly. We got into the rental car and returned to the airport for our 4pm flight home. Patrick and I barely spoke a word the entire drive. On the flight we finally erupted, both so angry, so sad, so defeated yet again. I am sure this doctor has done wonders for many families, but he was not the doctor for us. I thanked my lucky stars we had not committed to surgery with him. We returned home and proceeded with the surgery on Finn’s right eye as planned the next week.
The routine was the same — depriving Finn of food for 8 hours, checking into the hospital in the early hours, meeting with the anesthesiologist, and finally waiting while the surgery was performed. It was deja vu. The surgery was again a technical success, but the odds of any vision for Finn were unchanged and still bleak. Dr. S. came in afterwards and told us that looking at the eyes this time, he felt that things were more consistent with Persistent Fetal Vasculature, but that again not everything fits with that diagnosis. It was becoming more and more obvious that our son is a bit of an anomaly. He reiterated that watching Finn over the next year to see if he hits milestones and develops normally would be the most telling. We told him about the genetic testing and our trip to Detroit. He was glad we’d taken the trip to get a second opinion and didn’t seem at all offended that we had. (I was relieved because I’d had a moment of panic when booking the trip that had felt like we were cheating on him.) He felt that Dr. Death’s expertise and experience were valuable, but disagreed with his 48% statistic about the genetic testing. He said the results should be more in the 90-95% accurate range which was also what our genetic counselor had said. Sometimes in life you are given two completely different answers to the same question and you have to make a choice as to which to believe. For my sanity, and for my son, I decided then and there that the 48% statistic was bullshit and that our trip to Detroit had never happened.
And then Dr. S. said what has become one of the most valuable pieces of advice we’ve received, and exactly why we’re glad he’s our surgeon. He said that Dr. Death doesn’t know Finn. That even he, only somewhat knows Finn. He said, that Finn is not just a statistic – he is our son, and we are the ones who truly know him and live with him every day, and our opinion matters as much as the medical opinions. He tasked us with just letting Finn be Finn. Watch him grow, let him show us what he will become. In his own time, he would let us know exactly what the future holds and what he needs. Basically, I needed to stop trying so hard to fit Finn into a box and accept that we may never find the answers we were looking for — most importantly, that perhaps we were better off without them.