Joubert Conference - Part 1

Well, we did it.  We successfully made it through our first Joubert Syndrome & Related Disorders Foundation Conference.  I was quite nervous about the whole thing – not sure if I could handle it emotionally, especially after returning from an 11 day servant trip just 36 hours earlier.

All registered and ready for the
conference to begin!

When we entered the hotel, we were greeted by the only other person I knew there, Jackie – the conference chair whom I had been helping with hotel stuff.  She and her teenage son with JS gave us a warm welcome and pointed us to the registration table where we received a goody bag and a binder full of information.  My mom also attended and my sister came along to watch the kids so we could focus on the conference.

Our first session was a couple hours later and it was a compelling presentation by someone who shared views counter to what culture and medicine usually say.  She talked about doing away with the term “special needs” and about not devoting all of ourselves and our kids into the various therapies.  That all of this would eventually make them feel like something is wrong with them and that we’re trying to fix them. While a lot of her points made sense in a perfect world, I found it strange that a room full of parents and caregivers of kids with special needs were hearing her challenges to “the norm” as one of the first sessions.  A lot of what she said rubbed me the wrong way – maybe because it challenged so much of what I pour myself into – and I got a little crabby for the night, afraid that I was going to feel this way the whole conference.

So then it was dinner and a some socializing over a welcome cake.  We met a couple other families with older JS kids and chatted a little before heading to bed.  I was overwhelmed by being around other families. “Is this or that going to be what Connor is like when he gets older?” kept running through my head with every interaction we had.  The range of abilities was tremendous – everything that the literature had said was true – some people with significant delays in almost all areas of development and some who appeared and acted fairly “normal”.  Where on the spectrum would our little guy end up?  I cried that night (proud that I made it to the evening before I shed my first tear!) This feeling is the strangest mix of fear and hope. 

On Day two we heard several lectures – one as an overview with a focus on genetics and the latest testing being done, another on disordered sleep in JS. They were both quite interesting and given by doctors and researchers who you could tell really cared about our kids and helping them succeed.   Right now there are 21 identified genes that can cause JS.  Connor’s JS comes from none of these, so we wait for more research and then more testing.   There was also a great lecture from an ophthalmologist on the various eye issues and research.  Connor has two of the most common issues – nystagmus and strabismus.  We learned about a few additional tests we’re going to ask our CHOP ophthalmologist about.  Brent chatted with the doctor after the session and asked if he would take a look at Connor later in the day.

That afternoon we had a small group session with two other families and several doctors.  I must say the access to the top Joubert Syndrome researchers and doctors in the world was a highlight of the conference for me.   Sitting and talking about Connor to a doctor who had actually seen and treated other JS kids before was a treat!  We chose the small group with the ophthalmologist in it since that is one of Connor’s main medical issues.  He’s a great doctor from the National Institutes of Health (NIH).  Also in our small group was a couple whose 3 month old baby girl had been diagnosed with JS just six weeks earlier.  I couldn’t believe they were at the conference and holding it together as well as they were.  We’d see and talk to them frequently throughout the rest of the conference and when I gave kudos to the mom for being there with all of this being so new for them, she gave a half smile and said “Knowledge is power”.

Friday, day three, brought a good presentation on the Neurodevelopmental research from NIH.  From all the researchers, though, there was a lot of “we just don’t know” as there are so few JS folks in the world, their issues range so greatly and the research is slow to be funded and to happen.  The next session was a 45 minute lecture on Ciliopathies - not my thing and waaaay over my head.  There's a reason I took Health as my physical science in college. :)

In the afternoon there were various workshops to attend more “practical” topics.  We attended one on iPad applications for early childhood put on the by the PACER center in Minneapolis.  What a fabulous organization and resource!  While Connor is too young and/or delayed for the apps they showed us, we hope that all these apps will still be around when he is ready.  The second workshop we chose was on Applied Behavior Assessment (ABA) therapy.  It’s obvious that a host of behavioral issues are present for many kids with JS.  I feel like this workshop never “got there”.  She talked a lot about the philosophy (of which I knew a lot of already) and never really applied it to life.  So a little disappointed with this one.

Later in the afternoon, we took part in two studies that the NIH and the University of Washington were doing at the conference.  The first one was studying the growth patterns in JS individuals.  They took all kinds of measurements on Connor, Clara, Brent and I.  We met and chatted with the head of the research department at NIH and she expressed an interest in including Connor in their current research even though it’s officially closed.  All she needed to start with was his brain MRI, so we were happy to get those records for her!  She is studying the variations in the brain malformation of people with JS and seeing if there are correlations between specific malformations and the person’s clinical realities.  This is huge as it could help to give parents and those affected a better idea of a prognosis for future development.

Best buddies

Then we went to the other study which was collecting skin biopsies on affected and unaffected kids.  With a bit of coaxing, Clara agreed to give a sample.  I was bursting with pride over her willingness.  Just another example of what a wonderful big sister she is to our little man.  I didn’t realize how much skin they actually take, so I was surprised, nauseated and heartbroken over what my kids had to endure.  Clara was  trooper and barely shed a tear until it was Connor’s turn.  She hid in the bathroom with the fan on because she didn’t want to hear him cry.  And cry he did.  Screamed like a little wild thing.  But he was comforted quickly and recovered nicely.  I can only hope that their contributions will help us and future JS families.  I cried that night, too…overwhelmed and angry that my family, my kids had to be a part of this.  Feeling bad that I basically made them both suffer through the biopsy, but knowing it was for the good of the cause.

To be continued...