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.

FAQ

What can they see?

People with albinism have a hard time explaining this because it differs for each person and they have no way to compare it to "normal" vision. The best explanation I've heard so far is that it's like a picture taken with a low resolution digital camera - you know what the picture is, but you can't see the details very well.

In terms of numbers, their vision can range from 20/60 to over 20/400 (which is legally blind) Although both boys haven't been able to perform an actual eye exam yet, the Teller Acuity Cards indicate they are in the legally blind range. So far it appears Fionn's vision is better than Emerson's.

Can't glasses or surgery fix it?

Unfortunately no. Let me try to explain (if there are ophthalmologists out there who want to correct me, please feel free!) For the average person with bad vision, it's the front of the eye where it focuses that is affected. This difficulty focusing makes their vision blurry.

For people with albinism, the retina and the nerve pathways from the eyes to the brain do not develop normally. This causes them to lack visual "acuity," or the ability to see details. They can also have problems focusing, and that can be helped with glasses, but their overall vision will never be fixed.

If they have severe nystagmus (see below) that doesn't get slower with time, or if their eyes start crossing, there are surgeries to fix those problems. Also, when they gets older, they can get colored contacts that will give their eyes a little pigment and help with light sensitivity.

Why do their eyes "glow red" sometimes?

Their eyes are pale blue, but since there isn't much pigment, lights often shine through and reflect off the back of the eye where the blood vessels are. This is also why their entire eye will turn red if you take a picture using the flash. It doesn't matter if the "red-eye" reduction is on...trust us.

Why do their eyes move around so much?

This is called nystagmus and just about all people with albinism have it. Their world doesn't move with their eyes, but it does affect the quality of vision. Their ability to slow it down is getting better with time and eventually it won't be as noticeable. It does tend to get worse when they are tired or upset, so we have to keep that in mind.

Will all your children have albinism?

Two out of two aint bad! Since it is a recessive gene, every pregnancy has a 25% chance of being a child with albinism. There is no way to test your first pregnancy for it, but now that we know we are carriers, we could find out about future pregnancies. It would require getting an amnio and comparing the baby's DNA to their DNA. But we wouldn't do it...the results would not change how much we'd want that baby.

What other problems are associated with albinism?

They have to take extra precautions to protect their skin from sunburn. (But really all children should be doing this!) Their eyes are also sensitive to light, so they wear extra dark sunglasses and hats outside.

Developmentally, Emerson has been behind while Fionn has been on track. No one seems to know if Emerson's delays are related to vision or not, but our anecdotal experience indicates that poor vision often affects fine motor and sometimes speech development. Having poor vision also certainly affects social development (how can you tell what social cues someone is giving you if you can't see the details of their face?) However, we are working with a team of therapists and have heard from other parents that almost all children with albinism eventually catch up.

Despite some general myths out there, the boys are not totally blind, they don't have to stay inside during the day, and it doesn't affect their intelligence. They also aren't arch villains and they don't have magical powers. Yet.