What is Joubert? How Bad Can It Be?

I feel in a way we've almost done a disservice to the families out there also dealing with Joubert Syndrome. I think people can look at Ethan and the progress he's made and think to themselves that Joubert Syndrome is not really that bad. And for that, we are extremely  lucky. Joubert, like any other disorder, has a spectrum. Clearly we're on the mild end of it, but the other end is no joke. Its debilitating, it's painful, and it can be fatal.

So what the heck Joubert Syndrome?

Overview: Joubert syndrome is a rare brain malformation of the brain stem and the cerebellar vermis - an area of the brain that controls balance and coordination.

The most common features of Joubert syndrome include:

• abnormally rapid breathing
• decreased muscle tone
• abnormal eye movements and the inability to coordinate voluntary muscle movements. 
• mild, moderate or severe intellectual disabilities. 

Joubert Syndrome affects multiple other organs, causing decreased respiratory function, liver disease and renal, or kidney, failure. Within the first year these are often fatal. Many children with Joubert suffer from chronic episodes of apnea, or failure to breathe.

Treatment: There is currently no cure. Treatment is for the symptoms only and  consists of infant stimulation, physical, occupational, and speech therapy. Also, annual monitoring of the liver and kidneys, as well as follow-ups with a pulmonologist, neurologist, nephrologist, and ophthalmologist.

Ethan in the NICU - the first
time I held him

Ethan's Apnea: I don't know if you remember my terrifying post when Ethan stopped breathing and needed CPR for 3 minutes right after he was born - we know now this was likely caused by his Joubert. We didn't know it at the time and if we did, he would have had a home breathing monitoring system through the first year of his life. (Blog Post:  http://ethanconquersjoubert.blogspot.com/2013/08/What-happened-during-delivery.html)

How Bad Can It Be? 

You've seen the mild side of Joubert. Sure we had some pretty intense scares, but overall we're doing pretty good. Children on the extreme end of Joubert suffer from truly debilitating symptoms:

• They may never walk, remaining wheelchair bound their entire lives
• They may be severely mentally disabled
• Some are never able to speak, even some who have only moderate cognitive disability are sometimes unable to verbally communicate
• Some never mature past a certain grade level. 
• Some suffer from chronic apnea, where they literally stop breathing multiple times per night. This can be and certainly has been fatal
• Some have liver or kidney failure, requiring organ transplants. This can be and again, certainly has been, fatal
• Some never live past 10 years old. 
• Some never live past a year. 

It can be very very bad.                            

What We Do for Ethan

Other than thank our lucky stars everyday!? We had Ethan in twice weekly PT and OT. He has recently graduated to once per month for monitoring! We do eye tracking therapy with him. We get his liver and kidneys tested annually by both blood tests and ultra-sounds. His last tests were slightly abnormal so we are working with a nephrologist to monitor his levels. His eyes are checked every 6 months. We will do this until he is a teenager. We don't know yet if there is or will be any cognitive delays. There certainly don't seem to be any so we are relentlessly optimistic and yet always on the look-out.

We do know with his Ocular Motor Apraxia (OMA) he will have a harder time doing certain things, like reading a book, taking tests, playing certain sports. OMA is the brains inability to control voluntary eye movement. Basically he has to turn his head to move his eyes. It decreases peripheral vision and definitely affects his balance. When we read we move our eyes right to left - he won't be able to do this. Ethan will have to move his whole head right to left so reading will get tiring for him. Luckily - tablets and computer screens seem to be easier for people with OMA. Thank goodness we're in the technology age!

So, please say a prayer for all those kids and adults out there with Joubert Syndrome. And help to raise awareness if you can! Here are some links to review:

Sites:

• Joubert Syndrome Foundation: http://www.jsrdf.org/
• University of Washington Research Study: https://depts.washington.edu/joubert/joubertsyndrome.php

PDFs:

• This is the most amazing PPT ever - it covers everything: http://www.jsrdf.org/pdf/jsrdf2011conference_whateverygcwantsyoutoknowdanaknutzen.pdf 
• This is an interesting link done by surveying parents of children with Joubert to chart milestones: http://www.jsrdf.org/PDF/Milestones_Survey_Results_06-03-13.pdf

You can see Ethan is doing very well - but you can also see how debilitating this can be

Next Blog Post - Baby #2? 

So, now you're asking - what does this mean if Terry and I want to have more children? It means a lot, so check back for our next post!