Is something wrong with Ethan?

Or... Why is Ethan always looking to the right and to the left?

Baby Ethan* - 1 month photos

People always ask me, how is Ethan? And I usually respond, “He’s amazing. He’s doing great. Getting bigger every day. He’s such a love. We’re super happy.” 

However, what I wanted to say was, “I don’t know! I’m freaking out! He won’t look at us. He won’t reach for toys. He can’t really do much of anything. He’s like a blob. And everyone is telling me he’ll grow out of it and he’s fine – but he’s not fine. Not compared to other babies. I know he’s not fine and it’s terrifying me!”

I talked about my fears only to a small subset of people. Some of them told me there was nothing to worry about. Some of them agreed it may be time to get Ethan assessed. Terry and I agreed, which was ultimately the most important thing. It scared us both. This whole crazy plan to have a baby sort of took off in spite of us, which led us to believe this was all “meant to be”. But if it was meant to be, why was it feeling so broken? 

At Ethan’s 4 month doctor’s appointment his pediatrician finally wrote prescriptions to have his eyes checked and to have him assessed by a pediatric developmental center. 

Diagnosis # 1

Baby Ethan  with OMA -
looking to the right

We took Ethan to see a Pediatric Ophthalmologist. There was good news and there was bad news. Ethan has good vision. That was the good news. The bad news, Ethan has Ocular Motor Apraxia (OMA), which essentially means he cannot control his voluntary eye movement. 

Ok, this may not be such a bad thing… right?

What are the short term affects?

• Ethan will soon develop head thrusts, this will be his attempt to begin controlling his eye movement and this will continue for anywhere from 2- 10 years. (Please let it stop before Jr. High)
• Physical delays are extremely common. On average children with OMA begin crawling at 1 year and walking closer to 2 years. 
• Some children experience speech delays as well, though this isn’t directly related to OMA, but rather another shared symptom of what may have caused OMA in the first place
• Reading comprehension can be delayed 
• Some children experience learning difficulties 

What are the long term affects?

• In school Ethan may need longer to take tests, especially reading comprehension tests. Overall, he should NOT need special education type classes. His intellect itself should not be affected, just the time it takes to finish reading. 
• Ethan may have difficulty with sports such as soccer or football, where there is a lot of action happening on all sides. Children with OMA tend to do better at very linear sports such as baseball, swimming, wrestling, etc. As long as we can go hiking with him!
• Children with OMA tend to gravitate towards computers games and reading on the screen because reading the fixed width on the screen is easier for their eyes. 
• By the time Ethan is an adult he will have adjusted to his condition, and lead an otherwise normal life. Again, computers will be a good career for him because of the ease in working on the screen.  He will be able to drive, go to college, get a job, etc. 

How did Ethan get OMA?

We don’t know this for sure. We found out recently that Terry’s sister had OMA when she was a baby, but she seems completely fine now. She may have had a mild case. Because of the connection to Ethan’s immediate family we feel it may be genetic, however it can also be caused by a number of different factors. And it could even be genes triggered by outside forces. 

Is there a cure for OMA?

Nope. It’s so rare that it doesn’t even have the attention or funding. And I sort of understand that. OMA is livable whereas other conditions can be life threatening. However, it does mean life is going to be a little bit more challenging than we had otherwise anticipated.

Diagnosis #2

Ethan and I at Disneyland,
he's looking right again

The day Ethan turned 5 months old we had him assessed by the Stramski Developmental Center. He was diagnosed with severe Hypotonia. Hypotonia means decreased muscle tone. Even at rest, most people have tone, or tension, in their muscles. Basically, it means Ethan is all squishy and floppy, and he has trouble holding his head up (which he might have anyway because his head is huge!). 

Note: This is not the same as having decreased strength – as Ethan is actually quite strong. Low tone means a lessened ability to contract or co-contract muscles. Reaching up or reaching for toys, holding on to toys, pushing himself up, etc. are all very difficult for Ethan. 

We had him assessed using the common Bayley III assessment method. It was somewhat painful to watch. For fine motor he's 80% delayed, for gross motor he's 47% delayed and for receptive language he's 90% delayed. Thankfully, cognitively he was only a few weeks behind, which was a relief. 

Is there a cure for this at least?!

From what I have read the cures are largely dependent on the underlying cause of the Hypotonia. However, from all the message boards, chat rooms, blogs, and Facebook pages I have joined – most parents said that with early intervention their children’s score improved incredibly quickly. 

In fact, the woman who did Ethan’s assessment gave us a set of exercises to do at home with him. Terry and I make sure he does all of them 2 -3 times per day.  In just two weeks he’s sitting up better in my lap, beginning to reach for toys, holding his head up stronger, and he’s able to roll over from his stomach to his back now!

So what’s next?

Taking Ethan to the
Geneticist!

1. After we had Ethan assessed we made an appointment with a Geneticist  to have all of us evaluated. That was a very positive meeting. They definitely confirmed OMA and Hypotonia, but didn’t feel the need at this point to do further genetics testing.
2. We sent Ethan’s MRI to the University of Washington’s Joubert Study.  Joubert Syndrome is a super rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. In some cases Joubert can cause liver and kidney disease and children with Joubert can also be severely mentally delayed. We DO NOT want Ethan to test positive for Joubert.  If Ethan does indeed have Joubert, we will go back to the Geneticist for additional testing to find out where Ethan is on the spectrum. Luckily, the Geneticists did not feel like Ethan had Joubert based on his cognitive abilities and the advancement in just two weeks of the home therapy Terry and I were doing.
3. Ethan begins a rigorous twice weekly Pediatric Physical and Occupational Therapy regiment beginning next week.   Early intervention is key! We will repeat the Bayley III Assessment at 11 months of age to see how he is improving. 
4. We will go back in 6 months to see the Ophthalmologist, have him repeat the Bayley III Assessment, and re-review with the Geneticist.
5. When Ethan is Kindergarten we will likely begin therapy for his eyes as well. This will not be to cure the OMA but to help him with simple workarounds to make life easier.

What is the difference between Pediatric Physical and Occupational Therapy?

Working on our tummy time!

(Only because a few people asked me this and at first I didn't know how to answer). Both disciplines look at muscle tone, strength and flexibility, but in different ways. For OT they focus on fine motor skills, using hands and fingers. They also deal with thinking skills and sensory skills, such as emotional and behavioral reactions.  PT focuses on mobility and gross motor skills – so more crawling, standing, tummy time, etc. Both are very important for a little lad as behind as Ethan. 

Outstanding Diagnoses’

There are several additional diagnoses’ for which we are either waiting for feedback or waiting to perform the diagnosis based on age:

• The results of the Joubert Syndrome MRI review – fingers crossed that he doesn’t have it
• The Geneticist did recommend we do an ultrasound to check Ethan’s kidneys – although at this point he’s fairly confident that they will be ok.  
• Cerebral Palsy test in a few months – though we don’t think he has this anymore because kids with CP are more rigid and he’s just floppy
• Autism test at 12 months. We’re feeling ok about this because Ethan does laugh, babble, anticipate his bottle and food. He does interact with us. He doesn’t look at us well – but that’s most likely a result of the OMA. 

Whole family at Disneyland, Ethan
looking to the right again!

So – that’s where we are in a nutshell. I will talk more about how this has really affected us in the next blog post. I know I just threw a lot of facts and information at you in this blog – but here’s a taste of what we’ve been sifting through ourselves these past few months. I won’t lie – it’s been really hard. But like I handle all things in life, I’m taking this just one little step a time. Thank goodness for Terry!

*Picture courtesy of Sandee Lynn Photography