Before we even met with our first optometrist, I knew I would want a second opinion. I did a bit of research and found that the UC Berkeley Optometry School has a facility on campus that has a specific infant/toddler clinic. Perfect.
Fast forward 3 weeks and today was our appointment with Dr. Deborah Orel-Bixler.
First of all, let me just say that she is AMAZING. The facility is amazing, the doctor was amazing, overall I couldn't recommend it more. What really stunned me the most was when she told me that they book a full hour with each patient. Yes, an HOUR. Wow, what service.
After going over some family history she got down to business. Instantly we knew this was going to be much different from our first appointment with Dr. Dimiceli at Childrens Hospital.
Dr. Orel-Bixler started with some flash cards. She held up two large cards, one white, one white with a black smiley face). She then watched Jesse's eyes to see if he would fixate on the one with the smiley face. Of course fixate is a strong word, more like pause to notice, which basically indicated that he could see the image. She continued this with the smiley faces going from black to various shades of lighter and lighter gray. Jesse did good on this test.
After that was the color test. This was a little more difficult since babies don't always have great color perception at this age anyway. She gave him a cautious passing on this test as well, but said we would need to do it again at 9 months so we could be sure.
The next test involved a large card with a simple contrasted picture either near the top or bottom of the page. She would show it to Jesse to see where his eyes went before looking herself. She said this kept her honest since she could judge his eyesight without first knowing where they should be going.
Jesse did good, but was quickly getting bored of this game.
We then moved on to some peripheral vision tests with some bright lights, which he did great at. She also darkened the room and shined a light near his eyes to see if the brightness would bother him. It didn't, which is good.
She then moved onto what you would think would be part of a normal eye exam. She looked in his eyes at his retinas for discoloration, then she dilated his eyes and looked at his optic nerves and for any refractive error. These were the same tests that Dr. Dimiceli did too but Dr. Orel-Bixler seemed just so much more at ease doing them. She sang to him and just really kept him calm. So much so that she was able to get a really good look at his eyes.
After all the testing we were able to come to a few conclusions.
He probably does not have leber's amaurosis (effects the retina) or achromatopsia (color blindness). His optic nerves look great, so his nystagmus probably isn't caused by optic nerve hypoplasia (OHN - underdeveloped optic nerves) either.
That was all wonderful news to hear.
After looking at his eyes for a while, she's also probably ruling out ocular albinism, though we are still cautious about that as it is early to rule this out without doing an ERG, but more on that later. He also has no refractive error, so at this point he doesn't need glasses.
Remember, decreased visual acuity caused by nystagmus cannot be fixed with glasses unless there is a refractive error. There is some talk about using contact lenses to calm the eye from moving or glasses with prisms or negative lenses to also help the nystagmus, but that's not the same as trying to fix a refractive error, and from my understanding it's only helpful in certain cases. For example, the negative lenses may help bring objects that are farther away seem closer so that it is easier for him to focus on them; convergence they call it. But at this point it isn't something we are looking at because it's a bit too early to tell if they would help, especially since we haven't yet seen if he will develop a null point and where that might be.
Note - a null point is the point where the eyes will naturally gravitate toward where he can see best. Often this is the point where the eyes are most calm and don't move as much. It can result in severe head tilt depending where the null point is. This is where surgery may really help.
The doctor also looked for signs of strabismus (lazy eye). He doesn't appear to have this, however kids under 6 months old often have trouble coordinating their eyes, so eye misalignment is common at this age and makes it difficult to say for sure if strabismus is present. She also ruled out any type of transillumination defects.
So at this point it is most likely that Jesse has what they call congenital motor nystagmus - CN, also known as ISN (infantile nystagmus) with no real underlying condition. His nystagmus is pendular in nature (side to side) and seems to travel less as objects get closer to his face with smaller faster movements when he tries to fixate on an object (fixation nystagmus).
If he has to have nystagmus, this diagnosis has the best chance for good vision. We are hoping for something better than 20/50 but it's far too soon to tell.
Most likely he will have trouble with stereopsis or fine depth perception. Things like concrete curbs or all beige stairs may give him trouble. However, this is only one factor that aids us with depth perception and he has all the other depth perception indicators, so he should quickly learn to overcome this setback.
One test that we did not do today was an ERG or electroretinogram. The ERG is a recording of the bioelectric potential of the eye. This test could be done to fully rule out some of the conditions mentioned above, specifically issues with the retina's and optic nerves. However there are some risks. Should Jesse cooperate the test could go fine, but if he doesn't they would need to sedate him, and that always carries risks, especially at his age. At this point we are on the fence and will probably spend the next few days/weeks talking it out before deciding if we want to get that test done now. Having the information would definitely make us feel better, but at the same time it wouldn't change any course of treatment at this point, so it's a tough call, especially given the results from today's tests.
We may also do a VEP (visual evoked potential) test in the future as well, but again he is too young right now. Maybe at 9 months or a year. An MRI is also an option, to rule out any neurological issues, however unless his weight drops off his curve or he presents other developmental issues we will probably hold off as the MRI definitely requires sedation.
For me, today was amazing.
It's all about getting him as much help, testing, diagnosis, visual stimulation, vision therapy, and surgery (if needed) for him to lead the most normal life that he can. I would love to see him be able to drive someday, something that most of us take for granted.
I can't tell you how much Dr. Orel-Bixler made us feel at ease and better about Jesse's condition. I know it's going to be different than what we had expected for our little boy, but it's going to be okay. Some days will be harder, some easier, both for him and I. I know that there will still be many sleepless nights in my future, staying up late to research the next greatest treatment option or worrying over something that I'm sure I'm making a bigger deal out of than he ever will. But as his mom, that's my job. My job is to worry without him ever knowing.
Next month we will have a follow up apt with Dr. Demiceli and one at 9 months with Dr. Orel-Bixler. We were also able to get a consultation appointment in LA with Dr. Lingua just before Thanksgiving. Since we will already be there, we figured it wouldn't hurt to take the time to see him and learn more about the procedures that he performs. We already know that he won't do his procedure before Jesse is 2 years old and his null point is established (if any), but if it gives us an opportunity to learn more about his treatment options then the appointment is worth it. And of course we are on the wait list for Dr. Hertle, most likely sometime in January or February.
One thing I mentioned to Jeremy tonight is how lucky we are that we can just focus so much energy into care and research for Jesse. For so many people they would never have the opportunity to see 2 doctors within a month, to drive to LA, to fly to Ohio, to get a 2nd, 3rd, 4th opinion.
Part V: The Best of the Worst