Ethan May Have Joubert Syndrome

Ethan about to go to
school!

So... remember a few posts back when I said we were waiting on the MRI results for Joubert? Remember how I said we really, really did not want Ethan to have Joubert? Well, we sort of got the results back.

What does "sort of" mean?

There is one key element they look for in an MRI called the Molar Tooth indicator, which is the final verdirct in Joubert testing. Unfortunately, several doctors reviewed it and his MRI (which was taken when he was 2 days old) was unclear. Therefore, they cannot definitively give us a yes or no answer.

Not Ethan's MRI, this was a sample
taken to show how they check for JS

However - there are several of other abnormalities in the brain that Ethan has that are linked to a Joubert
diagnosis. For those who geek out, this is the medical jargon sent to us that we're still piecing together: He does have cerebellar vermis hypoplasia, dysplasia (abnormal shape of the top of his cerebellum), and an abnormal configuration of his 4^th ventricle consistent with abnormal orientation of his superior cerebellar peduncles.  These findings are all seen in patients with Joubert syndrome.

At this point we have been advised to begin treating Ethan as though he does have Joubert Syndrome, which essentially mostly means Physical and Occupational therapy, which Ethan is already in.

What the heck is Joubert Syndrome?!

According to the Joubert Syndrom and Related Disorders Foundation, "Individuals diagnosed with JS have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination."

What does Joubert affect?

Like Autism, Joubert has a spectrum ranging from mild to severe. Here are some of the things we can expect if Ethan truly has Joubert:

• Hypotonia - check, we know about this
• Eye movement issues - check, we know about OMA
• Impaired coordination
• Intellectual disabilities which can range from mild to moderate are pretty typical, but intellectual abilities can range from normal to severely disabled
• Failure for the body to properly flush the kidneys and the liver

See the complete Fact Sheet:
http://www.jsrdf.org/PDF/Joubert_Syndrome_Fact_Sheet_06-03-13.pdf

What are the next steps for Ethan?

1. We have begun the paperwork to get Ethan tested by a geneticist, because of the range its important to know which specific genes were mutated, causing the JS. Note: The unfortunate thing about genetics testing is that it takes a long time, AND its not 100%. If he received negative results, that may mean the test didn't take and not necessarily that he doesn't have anything. However, my understanding is that positive results are accurate. Go figure... 
2. We are enrolling Ethan in the University of Washington Joubert Syndrom Study. These are the folks that are reading his current MRI and suggested we get a new one. Here is their link: http://depts.washington.edu/joubert/joubertsyndrome.php
3. We will schedule another MRI for Ethan, which scares me because they have to sedate him
4. We will get his liver and kidneys tested

What are the next steps for Terry and I?

Ethan playing in his
jumper after eating 

1. Cry, freak out, be sad, be angry, throw a pity party for ourselves and our son; mourn the loss once again of the vision of what we thought having a child would be like. 

After that...

1. Terry and I will get tested by a geneticist to see if we are affected or unaffected carriers of the gene; we both have to have the recessive gene but the level in which we have it will make a difference in the likelihood future children will have this as well. At this point the likelihood could be as high as 1 in 4... eeks..
2. Just continue to be strong for our beautiful son and for each other

And we have to remember - he may not have JS afterall. The chances are just really, really high right now. And if he does have it, he may have a mild case. I am sad also because I thought we were close to having everything figured out, but we're not - we're far from it. The journey continues.

How the Diagnosis of OMA affected Terry and I

Receiving the diagnosis of OMA (Ocular Motor Apraxia) was wrought with very mixed emotions. Prior to the diagnosis I knew something was wrong. Ethan wasn’t engaging with us – he wasn’t reaching for toys, he wasn’t looking at us or looking at other people.  I hate to admit this, but I began fearing going out in public with him. People can be horrifically abrasive and judgmental – I literally had strangers AND good friends alike wave their hands in his face, snap their fingers in his face, clap their hands in his face, all in vain attempts to get his attention. I was embarrassed because it was only further confirming my fears and I was angry that people would be so unremittingly rude.

I was also afraid to hang out with close friends who had kids themselves because I felt like with Ethan’s obvious delays, especially when sitting (or laying) next to my friends’ fat and happy babies, it was more like a giant neon sign pointing out my son’s condition. And that really only made me feel so much worse. I needed companionship and support, but I started really becoming more of a recluse for a while. 

And then I started back to work, which was devastating for me. Terry stays home with our son part time and part time we have him in a lovely, lovely daycare.  At work people were gushing, asking for pictures, asking me all about it… but I could barely talk about him.  I wanted to say all positive things about him, but it was clouded over by how scared I was that things were really, really bad.

Our whole family -
doggie included

It really wasn’t until I received the diagnosis that I could catch my breath a little. At least I had something that felt tangible. There was a picture to look at it. There were milestones to meet. There were steps to follow. Don’t get me wrong – I cried for about 2 solid days and buried my brain in online research… for better or for worse. I read forum posts, blog posts, research papers, and I joined a Facebook group for people or parents of people with OMA. Some of what I read made me feel truly inspired, and some made my heart break so profoundly. The long and short of it is that OMA and Hypotonia are certainly not the worst things in the world, but they’re not nothing. They’re challenging. It’s going to be hard.

So how do I feel now?

Honestly, I am pissed off.  I am angry. First off, I am angry for myself. Everyone around me has been having kids like crazy, as if a memo to procreate was sent out to everyone and somehow missed my inbox. All the babies around me are happy, healthy and it is so hard to be one person whose precious little guy has challenges. I am the only one who has to take my son to a geneticist. I am the only one who has to take my son to physical and occupational therapy. I am the only whose son won’t look us in the face or reach to be picked up…  and it makes me mad because that is all that I have wanted for so, so long. And I know life isn’t fair, but really… this was the one time it should have been.

And I’m angry for Ethan. I’m mad that life is going to be challenging for him. I’m mad that reading may prove to be tiring for him. I’m mad that he’s going to have to work harder than other people around him to do the same basic things. I’m mad that he may get bullied (and I will turn into one crazy Mama Bear if I ever see that happening…). I’m mad that he may not be able to play all the sports he wants to play. I want everything in life to be amazing for my son, and I’m mad that I can’t make it be easier for him.


But you know how else I feel? Joyous. Grateful. In love. In awe. And Charmed… Ethan is one of the most charming lovable babies I have ever known. Everyone who meets him takes an immediate shine to him, and everyone who knows what he’s going through asks how they can help. He is going to have a way with people, I can tell. He is a Pisces after all… He is so quick to learn new things, and he loves to absorb, to discover and to try. I am so proud of him every day. Wherever we end up after all this craziness, I know I am going to be so proud of the man he is going to become.

Ethan's 6 Month Photos - He's a Charmer! :-)

How does Terry feel?

I have never been able to sit down and get him to write for this blog... but I will say this about Terry - he's an absorber. He absorbs all that is going on around him. He's not quick to react. He doesn't blow up or fall apart. He doesn't brush things off. He lets me run through my range of emotions as he waits for game-plan we'll eventually put together. He's so smart and so kind. He does let me be the sort of front-runner, the planner and the researcher. I think mostly he trusts that I will keep the ball moving forward and in the right direction. But I don't actually do anything without thinking it all through with him. We're a team. And, quite frankly, we're a good team.


So – we’re going to be ok. Ethan going to grow and develop at his own pace. And Terry and I are going to do everything we can to be there for him; to remove all the obstacles within our control; to encourage him and always make sure he feels secure, confident and loved.

Our unique little family

Lastly, I want to make sure I don’t get caught up meeting the milestones and miss the moments. Before all this, I really had one month of just enjoying my baby. If you think about the timeline: he almost died at birth, he was in the NICU for 7 days and by his 6th week I already had the feeling something was wrong.  On top of the developmental delays Ethan was so fussy, he was really underweight and on reflux medication – it felt like I could never catch a break with him. I rarely just sat and played him, basking in his baby company. Because of that I completely missed out on just enjoying my little tiny man get bigger and bigger. I know every parent goes through this on some level… but now that I have a sort of “handle” on things – I am going to work hard to enjoy all the little moments. It’ll go quickly – whether I’m paying close attention or not. Might as well be as present as possible. :-)