Is it possible to overcome Ocular Motor Apraxia?

I have to start by saying that Patrick's abnormal eye movement wasn't severe. But it was noticeable. And it was often. When the eye doctor saw him for first time, Patrick was about 11 months old. I still remember that appointment very well. One single item moved in front of Patrick from left to right, at a slow speed, and Patrick's eye couldn't follow it properly. The doctor knew immediately: This is called Ocular Motor Apraxia. Patrick has Joubert Syndrome. He suggested to see him back a year later to check on his vision.

Weeks later we saw a Neurologist, who requested an MRI, which showed Patrick's brain didn't have the "tooth" sign, hence he didn't have Joubert. Ever since, the only diagnosis we have is "underdeveloped cerebellar vermis" which can cause speech delay, balance and coordination issues, and the abnormal eye movement among other things. We have also been told that there is no surgery, medicine or anything that could possible cure the brain abnormality, and the only way to help our son is to address each of the developmental delays we may encounter along the way. But, what about the eyes? Well, we were told he wouldn't completely overcome it, but he could learn to manage it as he grew older, hopefully by the time he became a middle school age child.

We were told all that.
Patrick showed us otherwise.

Ready for school

I made myself educated in OMA, but, as most parents of kids with rare conditions, we have to follow our instincts on most things as it's very difficult to find information or to even get it from the doctors. He still can't talk, and back then he was only a baby incapable of explaining what he felt and how, so I had to guess. I also learned to read my son's body. Very soon I figured out that his abnormal eye movement was even more noticeable when he was tired, so I made sure he slept well during naps and overnight. It helped. The more I was reading articles and his very own body, I began to do other things, which I have been sharing since I began my blogging journey.

Every now and then I would check on his eye movements, by performing the same simple test the doctor did at his office. As the months were going by, I had to speed up the movement of the objects, because he stopped having problems with the slower ones. Was he getting better, that fast? I didn't want to get too excited just yet. Friends and family also would tell me that it seemed like he was getting better. The first time I took him to Mexico, my family found out about his OMA. Seven months later we went back, and they all told me how less noticeable it was. You seemed too worried last time you were here, and look, he is fine now! Were they just trying to make me feel better?

One day I sat down to pay close attention to Patrick's eye movement while he was playing with his little brother. He was playing to throw the ball and make a basket, something he enjoys doing despite of being told by the doctor how uncomfortable he would be with such activities. I hardly noticed the eye delay throughout the whole time. With the incredible yet apparent progress, and having Patrick just turned 3, I figured it was time to see again the eye doctor. I was very curious to see what he had to say in regards to his Joubert Syndrome, since it was him the one who assured us that was what he had.

Favorite game at ChuckEcheese? Throwing balls!

Once at the doctor, Patrick was very shy but cooperative. One object, left to right. No problem. Next object, faster, right to left. No problem. The doctor had to do it several times, faster and faster, to eventually catch the delay. The doctor turned to his computer to take a second look at the impressions he wrote down on the first visit 2 years ago. The doctor couldn't believe his eyes (no pun intended) -the fast improvement was obvious. That's when I started asking him about why he believed that Patrick had Joubert Syndrome despite the neurologist saying otherwise. He said the neurologist makes a diagnosis based on the readings of an MRI, whereas he makes a diagnosis based on the symptoms. According to the symptoms Patrick had back then, he had Joubert Syndrome. He acknowledged how doctors know very little about this rare condition, so he said most of them categorize them all under Joubert Syndrome. Like with any other health condition, there is a spectrum... and we believe some kids are more severely affected, some kids less.

Then he took another look at Patrick and how well he was performing the tests. We told him about his speech delay but that he has been walking and running very well, and developing -slower than most kids, but otherwise well. He took a quick look at his medical records, and saw that his kidney tests (a common issue in JS) and other tests came back all perfect. He then realized it can't all be Joubert Syndrome, as it would be too silly to say Patrick just happens to be in the lowest end of that spectrum. We told him about the study UW is doing and that we have decided to participate. He said hopefully they will be able to tell us the name of whatever rare condition Patrick has. He was very happy we were cooperating in these type of things, and asks us to share the results with him whenever we got them back.

At the end of the appointment, he expressed again how amazed he was to see how quickly Patrick had progressed. I needed to hear that. I have been hearing it from my husband, from friends, and I have even noticed it, but I needed the specialist telling me that he has progressed so quickly it feels like a miracle. Patrick is doing so well I don't have to see him again, unless, of course, there is regress... But, he is doing unbelievable well. Whatever it's you are doing, just keep doing it.

I will keep praying. And hoping. And loving him unconditionally, because that's all I have been really doing.

Happy New Year dear friends and family.