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.