Pediatric Ophthalmologist - 2nd Visit

Last week, we took Emerson for his pediatric ophthalmologist appointment to check on his strabismus (eyes turning in). It was his first appointment since his diagnosis, but I went in thinking I was much more emotionally and logistically prepared this time. For instance, I carried in his full Early Intervention packet, a list of questions and paper to write notes on. I knew from the last time that waiting time could be several hours, so I also stocked up on plenty of toys to keep Emerson busy! Sure enough, we rolled in at four and finally went back at around 5 or 5:30 so they could give him dilation drops. I don’t know why they don’t just do this from this beginning because after entertaining a squirming baby for over an hour in a small waiting room, we then had to entertain him for another hour in the even smaller patient room.

I’m not sure which was worse, though – trying to keep the baby happy and awake, or trying to keep Robbie from touching every button and pulling open every drawer he shouldn’t be opening. Have you ever stopped to look at all the crap in an eye doctor’s room? Well, let me tell you, it’s an ADD nightmare…especially when you’re talking about an engineer who has to figure out how everything works. Since the office is for mainly small children, they had rigged up some of those cheap electronic dogs (the kind you buy in dingy mall toy stores that bark and move their legs back and forth). They had small red lights to replace their noses in an attempt to get children’s attention on a fixed spot. Robbie quickly figured out that pedals installed in the floor operated these dogs, so I cringed as he filled the office with manic barking and wondered if anyone had ever been kicked out a doctor’s office for something like this.

Finally, the doctor came in and attempted to exam a now-exhausted and increasingly ancy baby. The good news, he told us, was that his refraction was still fine – meaning he didn’t need glasses. And the crossing eyes were not bad enough for patching or surgery. The bad news was that glasses are the only option left to help them stay straight – meaning he did need glasses.

My heart sank. Throughout this journey, I keep saying to myself “He has this, but at least he doesn’t have this (fill in the blank) yet.” Now almost all those blanks have been filled. I tried to ask the doctor about contact lenses instead since it’s my goal to get them someday to add color to his eyes and help with light sensitivity. He brushed this off as unnecessary – which I suppose is true from a medical standpoint, but not from a cosmetic/social standpoint. He isn’t the one who has to track down infant frames (not easy we’re discovering) and then try to keep them on an infant who spends his days rolling around on the floor and chewing everything in sight. And he doesn’t have to be in Emerson’s shoes as he faces the world when he gets older. I suppose I am resigned to the inevitable for now, but I will not let Emerson start school in 5 years without contacts even if I have to go to a hundred different doctors. Kids are just too cruel.

The doctor told us to come back in four months to evaluate how the glasses were working, so I decided to ask as many questions as I could think of while we were there. He didn’t know what kind of albinism Emerson has because he’s too young to test, although the other parents on the NOAH website seem to know for their babies. He also didn’t believe in doing nystagmus-dampening surgery, even though many parents have said it changed their children’s lives. I walked out feeling more frustrated than ever. He’s an eye doctor, but not an albinism expert, so who do I believe – the people who are experiencing it with their kids or the medical professional? I think that’s one of the most frustrating things about dealing with such a rare condition…the treatments and theories range so widely that it’s hard to get consistent care and feel like you have all the information.

Like the other things we’ve been through so far, I am slowly working my way through the stages of grief toward acceptance while Robbie skips straight to acceptance. I am glad for his sake and later for Emerson’s sake that he’s so upbeat about it all, but it also makes me feel a little lonely at times. Thank goodness for close friends and family who will have a good cry with me!

So anyway, we’re now on to the great glasses hunt and will post pics as soon as we can get them purchased and on his face. Unfortunately, most baby frames come in bright colors (why not make them with blinking lights to get people’s attention?), are huge on their tiny faces, and are mostly round…which would make him look like Harry Potter with albinism. We have found two (count ‘em two) frames online that look somewhat decent, so now we have to cross our fingers and hope whichever one we order works. And that he doesn’t eat, crush or otherwise abuse these $200 investments on the first day. Oi vay.

The Diagnosis

A couple of months ago, I sat down to make a copy of some video we had taken of Emerson to send to Robbie’s mom in Texas. Early on in the video is footage of him just a few hours after being born. Underneath the standard-issue pink and blue stocking cap, his dark eyes are bright and blinking. He squeaks and mews, his tiny mouth working like a hungry baby bird. In the background, you can hear me talking to my sister on the phone about what birth was like and how he looks. Of course, the topic soon turns to his unexpected white hair, and I laugh, saying, “He looks like some albino’s baby!”

Watching this months later, I don’t know whether to laugh or cry. I had no idea what was coming! From the moment he was born, I instinctually felt that something was off. In the first week, I even seriously suggested that maybe he did have albinism, but Robbie and my family laughed it off. They pointed out that his skin was so pink, his eyes weren’t red, and none of the doctors or midwives said anything at the hospital. So I put it out of my mind completely and assumed like everyone else that it was our Scandinavian genes.

Then, two weeks after he was born, I began to have difficulties breastfeeding. Our lactation consultant suggested we try a local osteopath who does adjustments on babies to correct their latch. We were exhausted and frustrated and this was our last chance at help before leaving for Chicago the next day, so she graciously agreed to see us that same night. As she did the adjustment, she looked into his eyes and said, “Ah, no pigmentation.” Then she proceeded as if it was nothing. When we got back into the car, we both looked at each other in horror and began questioning what she could’ve meant. We could have asked her right then and there, but in retrospect I think we weren’t ready to know.

With the seed now planted, Robbie hit the internet. We had noticed that Emerson’s entire eye, not just the pupil, would glow red in pictures with a flash, so he found pictures of other people with albinism and showed me how their eyes looked the same. He found pictures of babies with albinism and their shocking white hair looked eerily familiar. He read about the eye problems and skin issues, but I refused to get worried. It was my turn to be the skeptic. And if he did have it, so what? We would just have a really cool, unique kid! Somehow I refused to let the negative information sink in.

On our trip to Chicago, a couple of my classmates suggested albinism as well, noting his unusual eye color. We had begun to see a honey color glowing behind the stormy gray, but we assumed he was just going to have brown eyes.

When we got back, I finally sat down and read the research for myself. That’s when it truly sunk in…it no longer felt so cool and unique. At his next doctor’s appointment, I told her about our suspicions and asked for a referral to a pediatric ophthalmologist. The appointment was scheduled for the same time that my sister came into town, so she came with us.

Thank god she was there to distract me as we waited for over an hour to see the doctor. I kept watching the children playing around me – children with pop-bottle thick glasses, crossed eyes or some completely blind. I couldn’t help but wonder what was in store for Emerson – surgeries, walking canes, patches, glasses. It was overwhelming to think about whether or not he would be able to drive and yet here he was only a month old, still struggling to master the basics of eating, pooping and sleeping!

Finally we were called back, the assistant watching with big eyes as all three of us accompanied one tiny baby. The doctor was unflinchingly honest, almost brutal. He walked into the room, shone a light into the side of his head, and said, “Transillumination.” We knew from our research that this meant albinism, but we were not expecting to be hit with the undeniable truth right away. He did some more poking and prodding, then asked his assistant, “Has Dr. Johnson seen this before? Go get her so she can see it.”

It was like he was a freak show and the rest of us – his family – weren’t even in the room. Finally he turned to us and said his refraction looked good, so he wouldn’t need glasses. We were immediately elated, thinking this meant he had good vision. But we quickly learned that the two were not the same and in fact he could still be legally blind. He gave us the standard spiel on albinism, then launched into a list of resources. When he began talking about services for special needs children through the local school district, I lost it.

The entire time, I was biting my lip and swallowing hard to keep back the hot tears. I was a mother now – it was my job to be the strong one for him. But the idea of him being labeled “special needs” and the challenges of starting school were just too much. My sister comforted me and we both cried together. I don’t think I have ever felt as close to her in my entire life as I did at that moment. We were bound together as sisters and mothers, sharing the immeasurable pain that comes with the immeasurable love you feel for your child.

The doctor stopped and looked at us as if he were seeing us for the first time. He softened his tone, adding, “It’s important to treat him like a normal baby, because he is a normal baby.” We were given instructions on what to look for in the coming months and told to come back at one year. And then it was over and our baby officially had albinism.

The first three months were the hardest. You don’t realize how important eye contact is to socializing and bonding until it’s not there. More than the nystagmus and the unusual coloring and the vision problems, I had the hardest time dealing with the fact that my baby couldn’t look at me. We had good days where I would forget anything was different. Or I would feel strong and remember that it was not that bad compared to what some children faced. Then I would see another baby smiling and watching its parents with intense love and it would throw me into a deep depression.

With time, tears, and a lot of support from friends and family, things slowly got better. The best day of all was the day, at around 3 months, that Emerson was propped up in Robbie’s lap, listening to him talk. Suddenly, he craned his head to look up at him, right into his eyes. We had noticed he was getting better at focusing, but with the eye movement from the nystagmus, it was hard to tell if he was focusing on faces yet. At that moment we finally knew he saw us.

As he improved his ability to focus, he also began to smile and laugh more. And let me tell you, there is nothing better in the entire world than seeing your baby smile. You feel like you can face anything...even the unknown challenges to come.