Our sweet baby Jesse had his 4 month checkup in early September. At the time I didn't think much about it and even asked my husband to take him alone since I was way behind at work. He graciously agreed and I went on with my day.
That afternoon he called to tell me that everything went well but that the doctor was a bit concerned about Jesse's eyes and she wanted us to see a specialist.
Okay, I thought. Not a problem. Jeremy has terrible eyes, so I just figured that Jesse got the short end of the straw and was blessed with his genes in this area.
It took forever to get the referrals to the right people, but by the end of the week we are able to make an appointment for him at Oakland Children's. Initially they tell us that we won't be able to come in until the end of September, but after some sweet talking and urging at our doctors request we are able to get squeezed in for the next Friday. Great.
At this point we've hit the weekend and we are headed to Monterey for my first big triathlon. We have a great time on Saturday and head back in the afternoon.
About halfway though our drive something inside of me clicks. "Why would our pediatrician be so insistent that Jesse get seen by the pediatric ophthalmologist "sooner rather than later""?
So I start googling... and googling... and googling.
It wasn't good.
I quickly came to the conclusion that Jesse had a condition known as nystagmus. Here's an excerpt from the American Optometric Association:
Nystagmus is a vision condition in which the eyes make repetitive, uncontrolled movements, often resulting in reduced vision. These involuntary eye movements can occur from side to side, up and down, or in a circular pattern. As a result, both eyes are unable to hold steady on objects being viewed. Nystagmus may be accompanied by unusual head positions and head nodding in an attempt to compensate for the condition.
Jesse's eyes move rapidly horizontally, especially when he is tired. Sometimes it's a slow movement or none at all, but even when there is no large horizontal movement there are small quick jerks when he tries to focus on something. He's also begun to develop a 'null spot' (where his eyes can remain stable) to the left and looking up.
Jeremy and I spent the next few days feverishly searching the internet for anything we could find. At this point we hadn't yet seen the doctor, but we knew in our hearts that's what it was. And pretty soon we started thinking back to all those moments when we said "man, look at him looking around the room, he's so curious" Nope, not curious, okay well maybe curious, but all that looking around the room was his eyes not being able to focus.
The week went by slow, very slow. Finally Friday came and we visited with the doctor at Oakland Children's Hospital. I should mention that at this point we'd already determined that no matter what this doctor told us, we wanted a second opinion. I quickly scheduled something with the doctors at UC Berkeley's Infant and Toddler clinic for the end of the month.
As soon as we walked into the ophthalmologists office I just didn't feel right. I knew this doctor wasn't going to be the one for us, but we still needed to find out as much information as we could.
About 30 seconds into the appointment she said "yep, he has nystagmus" I'd like to say it was like getting sacked in the stomach, but really we had been prepared to hear that, so it more just reaffirmed what we already knew.
Beyond the diagnosis of nystagmus she wasn't able to determine much. She said he has no refractive error (which is good and bad), and his optic nerves look good. He is able to follow objects but how much he can really see is unknown. She looked at his retinas, twice, and told us that the looked okay but slightly suspicious; he may have optical albinism. Optical albinism reduces the pigmentation of the retinas and possibly the iris, though Jesse's iris's look good. It can lead to severe reduced visual acuity and depth perception. The other possibility is that he just has nystagmus and that his vision is fine. Well not "fine" but fairly good.
Unfortunately this doctor couldn't tell us much more than that and sent us away with a directive to come back in a month.
Now a few things. Why could it be bad that he has no refractive error? Because that means that no matter what, glasses will not help him. He can see just fine, it's the signal getting from the eye back to the brain that is having trouble.
How bad is his vision? In short, we don't know. We do know that it is good enough to track objects. It's good enough for him to start to balance standing up. He can reach out for objects and mostly grab them. He can start to wiggle his way across the room to objects that he sees. He can also tell if you are smiling at him because he will smile back, though he's not looking directly at you (which is really heart breaking). But how well he can see those objects or your face is just unknown and we won't know for some time. Part of it is development at his age, only 5 months old, the other part is that he simply can't tell us.
In short, we weren't impressed with the first doctor. Not only did I know more than she did about a condition I'd only learned about a week earlier, but she immediately told us there were no treatment options and that he'd probably have to have vision therapy, large print books, and help in school. I am very glad that we took the initiative to look up a second doctor and I am excited to see if the infant and toddler clinic has more information for us on what could be causing his nystagmus.
At this point my every waking moment is dedicated to my kids and as soon as they sleep I'm up researching everything I can about nystagmus. Life has taken us on a journey that we are completely unprepared for, but I know we will make it through. I will do everything that I need to in order to give my little boy, and BOYS, the most normal childhood and life they can have.
Part II: Treatment Options