One medical condition or many medical conditions?

Patrick has Oculomotor Apraxia, hypotonia and pronation (and may soon add speech delay to the list). In the next few weeks I will dedicate a single post to each condition to explain them further.

In the meantime let's talk about having many diagnosis. So by the age of 18 months, there we were with 3 medical conditions for Patrick. The next few months I kept wondering why Patrick was born with many unrelated "defects" and feared that there would be more down the road. Why Patrick seemed to have so many different problems was a total mystery to me... Up until I came across this website and other similar forums was when I got an answer: Patrick really has only one condition: Oculomotor Apraxia (OMA). Hypotonia and any developmental problems that may come ahead, he will have them only because he has OMA (and he has OMA because of the underdeveloped cerebellum, so we could actually say that he has all these medicals conditions because of the small part of his brain that didn't develop fully.)


Think of a child with Down Syndrome. More than 80% of children with DS have low muscle tone, mental retardation, similar physical characteristics among them and stunted growth. But parents of DS children don't go around saying "my son has mental retardation, also low muscle tone, and also stunted growth..." all they have to say is "My son has Down Syndrome" and we immediately assume (and most likely rightly so) that their son has mental retardation, low muscle tone...

Unlike Down Syndrome, Oculomotor Apraxia is a rare disorder. Unless you know someone that has it, you would never know about it. When I tell people that Patrick has Oculomotor Apraxia and kind of explain that it is a problem in the eye, they still look at him and wonder why he still walks with the hands up trying to get balance when he is almost 2 years old. That's when I have to explain that Patrick just started to walk because he also has low muscle tone. Then they look at the way his legs move and that's when they notice the braces on the feet. So there I go to explain that Patrick also has pronation. I know that in the next few months when is more noticeable that he can't talk well like other kids his age, I will be explaining that he also has speech delay.

Learning to walk - Video of Patrick walking at 21 mos.

Patrick wearing his AFOs (braces)

Then you will think that Patrick was born with way too many health problems, just like I used to think. But I'm happy to know now that is actually just one. Everything else is just a consequence, or a symptom of his Oculomotor Apraxia (or more specifically, of the slightly underdeveloped cerebellum). Just like the many issues that children with Down Syndrome have, aren't really many unrelated issues, but rather just part of the bundle.

Based on the personal stories from the forums I read, I put together a list of the most common related issues that children with OMA have. Some kids have the problems more aggravated than others, but no matter what the degree is, it seems like all the related issues can be treated.

• Low  Muscle Tone. Patrick has it, and has improved significantly. His therapist just told us that he will likely move from twice a month sessions, to once a month sessions given how well he is doing now. Yay!
• Speech Delay. He will have a full evaluation by a Speech Therapist in a couple of weeks, but I have been told by his PT that perhaps he will require once or twice a month therapies.
• Fine motor delay. In Patrick is borderline so he doesn't require specific therapies for this, but his PT gives me a few suggestions to get him up to speed. 
• Difficulty potty training, which goes to around 4-5 years of age. Boys are usually potty trained later than girls, at around 3 years of age. He isn't 2 yet so I don't know whether he will have a problem on this or not. I'm mentally preparing myself to the possibility of changing his diapers for another 2 years though!
• Lag behind in school the first years due to difficulty reading. I sort of new all along reading would be a problem because of his eye issue, and assumed it would impact a bit his learning at school. We shall see how big or small is the impact in him.
• May be near or far sighted, thus need to wear eye glasses. So far he doesn't have this problem, but who knows a few years from now, too young to tell!

How is that for a bundle huh? As I finish writing this, I can see him few steps away from me trying to figure out how to take down the gate to get to the kitchen. He just looked at me to see if I was watching him, and so he gave me the biggest smile, his signature "ham" smile that melts my heart and makes me smile instantly. Sure for me he IS a bundle... my little bundle of joy.

Patrick's crazy smile

A close-up on that smile!

Learning the diagnosis

Appointment with the Neurologist:

In the last post, I talked about how we ended up getting an appointment with a neurologist to find out more about Patrick's eye issue. That appointment went well. The neurologist was extremely nice and patient. We had so many questions, and we also had to answer so many questions. Patrick was very good cooperating with the simple tests the doctor performed at his office, like following objects from side to side, and checking up his body, his reflexes, abilities and such. He said Patrick had something called "Oculomotor Apraxia". The way he explained it, made my husband and me feel better about the whole situation. "He was born with it, it won't get better, but it won't get worse. He will learn to deal with it, and will learn to compensate it as he grows. Overall he can have a normal life".

We were told that an MRI was necessary to find out more about the "level" of the damage, the causes, and such. He referred us to a Pediatric Neuro-Ophthalmologist that specializes in his condition. We had a trip planned to Mexico to celebrate Patrick's Baptism in 3 weeks, and Patrick and I would spend one month in Mexico, so time was kind of an issue. The Neurologist was nice enough to tell the eye doctor to squeeze in an appointment before we had to leave for Mexico. The MRI was scheduled 3 days after our return from the trip.

Appointment with the Neuro-Ophthalmologist:

The visit with the Pediatric Neuro-Ophthalmologist didn't go well. As a matter of fact, it was the worst day of my life. He said that Oculomotor Apraxia was one of the indications of something called "Joubert Syndrome". Another indication was decreased muscle tone, which Patrick seemed to also have because by then, at almost 10 months old, he wasn't crawling, pulling up, and had just started to roll over. He said the MRI would only confirm what he was telling us.

How mommy instincts helped my son

My husband and I were spoiled with Patrick in so many ways. He wasn't a colicky baby, he took always good naps and learned -on his own- to sleep through the night by the time he was 3 months. Despite that it took me some weeks to figure out the breastfeeding part, once we got it going it was easy and I enjoyed it very much. He was very personable, and very, very smiley. Very smiley. He learned early to play with rattles and other baby toys. He learned to sit without support by the time he was 5 1/2 months old.

Patrick, 4 months old.

But by the time he was 3 months, I noticed something wasn't right with his eyes. It seemed like they wouldn't "follow" his head movements smoothly. Sometimes it was more noticeable than others, and in fact, some people wouldn't even notice it at all. I told my husband and some family members, expecting to hear "oh you are right, you should take him to the doctor" but all I heard was "mmm no, I don't see anything wrong". I didn't want to look like a crazy mother, and to be honest, at that point I had no other reasons to worry about him. He was otherwise healthy and happy, so I figured I could wait a bit longer to see how it developed.