My Son and Joubert Syndrome – Accepting What Is

Family Christmas in
San Francisco

I have been having a really hard time writing this blog lately – and I thought it was because I was busy. Busy with my beautiful son, busy getting Terry into college, busy with my extremely fast paced job, and busy with other things – birthday parties, travel, properties and trying to catch up with friends. But no – that’s not really it. I keep crazy hours and there is always time to write if I am motivated. No – the truth is I have never really come to terms with what is. I feel like I have pigged out on the smorgasbord of emotions, but up until just tonight I have not really accepted that “what is” cannot be changed. And I have to learn to not only accept it, but to continue to thrive in the wake of all we have been through and all we may have yet to face.

It’s interesting that this epiphany comes to me after a week of a deep depression, and the depression coming just weeks before Ethan’s first birthday. I have a colleague who had a baby just a month after Ethan was born. We were chatting it up at the water cooler and he told me what a trip his daughter is, how she walks into the bathroom with them in the morning and watches he and his wife get ready. She stares in the mirror alongside them and tries to mimic them. This was for all intents and purposes a super sweet and simple story. 

But it broke my heart. 

A big head makes
tummy time hard!

It broke my heart because Ethan isn’t even close to that. Ethan can’t walk, he can’t crawl, he won’t even roll over yet! He can’t focus his eyes enough to watch us, to look at what we’re doing. He can’t control his body enough yet to mimic our movements – more than clapping hands or banging on a table. He’s basically a 6 month old – but in a one year olds body.  I can’t get him to understand that he can roll over and crawl to whatever he wants. If something is out of reach for him he just cries. And I feel like every month the gap between where he should be and where he is gets wider and wider.  I solve problems – that’s what I do for a living. And I can’t solve this and its really, really hard on me. For Joubert – for Ethan, it’s just a little work every day, every day, every day. It’s patience. It’s persistence. It’s little rewards and a lot of labor.  I just wish I could pop into the future to when Ethan is 5 years old and see what his prognosis is - then I can just know and stop worrying about the unknown. But I cannot do this... I have to learn to be comfortable with uncertainty. 

The more I read about Joubert Syndrome the more awful I realize this condition is. For what we know now we lucked out with his condition being mild but I don’t consider us lucky. Joubert is one awful thing. In some cases Joubert is fatal due to kidney failure, liver failure, kids failing to eat, and/or respiratory issues. Some kids are fully mentally retarded. Some kids get fluid in the brain that has to be removed surgically. We will have to monitor Ethan constantly should one of any of those issues above rear its ugly head. And with Hypotonia he’s still mostly sedentary. And with Ocular Motor Apraxia his little head shakes when he’s trying to focus his eyes on something.  

And I look at my friends and family, who have so many kids between them and I can’t help but to feel so confused. I have spent years delighting in their children’s achievements and successes. Sharpening my mothering skills on their expertise. Waiting for the time that I could finally delight in a child of my own. And as I look back on this first year, I feel like I have been dragged across the coals. My joy hampered by fear. My excitement hampered by stress. My pride hampered by my embarrassment. Yes, embarrassment. It’s hard not to be a little embarrassed when you’re trying to explain to other mommies at nursery school why their younger child is already moving to the “Wobblers” section and yours won’t be there for a long time to come. It’s hard in a one minute exchange to say, “My son has this rare genetic disorder called Joubert Syndrome that affects the part of the brain that controls balance and coordination. He’ll get there eventually.”

My Christmas
Charmer

But – when I think about what has hampered my love… well, my love was hampered by nothing. I love my son so very much. And I don’t just love him because he’s mine. I love him for who he is. He’s charming. And he’s funny. He’s inquisitive. And he does mimic us as best he can and he loves it when we mimic him. He enjoys other people and other kids. He’s actually built relationships with some of the other babies at school – genuinely happy to see them when they’re there. He likes learning new things. I can't help but wonder sometimes what Ethan would be like without that one stupid mutated gene - but that is a fruitless thought and I am reminded to be in the now and focus on the what is. And overall - I think he’s going to be a pretty awesome little dude. 

So here I am alone on Friday night because Terry is working and I’m watching “Steel Magnolias”… don’t judge. And I know what’s going to happen – Julia Robert’s character is going to die. And I think about Sally Field’s character – having to say goodbye to her daughter and I’m a total wreck. And I think to myself how utterly shattered I would be if anything ever happened to Ethan – and suddenly my depression is gone and I realize I just have to accept what is. I have to learn to live with fear and turn it into an action plan, I have to manage the stress and I have to get over the embarrassment. I can’t wait to see who this little man grows into. Ethan doesn’t know anything is wrong with him and I owe it to him and to myself and my family to make sure that I work on not letting things hamper my joy, my excitement and my pride.  He requires more work than the average baby – but hard work has always been my modus operandi. 

I love my little
joyful character!

So there you have it. It won’t be easy – I know I will get stressed, embarrassed and fearful again. But I will just have to try and get back to this moment – here watching Steel Magnolias – remembering Dolly Parton’s line - “Laughter through tears is my favorite emotion.”

I aim to be able to listen to those water cooler stories and be genuinely happy for other parents and their children’s successes. Because when I am truly happy and feel blessed for having Ethan in my life, I am able to be truly happy for everyone. And that is a good place to be.