Invisible, Thoughts on 22q and Being Public With Our Son's Diagnosis

Someone recently asked me if Isaac actually has a disability, and the answer is yes and no and yes and maybe and I don't really know.

This question would have frustrated me even a year ago. Now, I have complicated feelings about this and I am not exactly sure how to explain or respond.

Isaac is doing so well that people from afar cannot immediately spot his struggles. This increases his chances of "passing" or assimilating into a world that others medical differences, both physical and neurological. He's three years old though, so things may change or be more obvious as time moves on.

Early on I had wondered about his diagnosis. He does not fit the typical 22q symptom profile. His case, thank the Lord, is really physically mild, non life threatening. He doesn't have a heart defect, has never needed surgery. This fact alone makes the doctors take a second look at his charts. He doesn't get sick often. We have avoided many interventions that often people choose out of fear when there are multiple options, and so have avoided complications from those more medical interventions. Mostly we are darn lucky at that outcome. We tow the line with it though, ever vigilant.

Being a special needs family is the hardest thing that has ever blessed our family. Every single time something difficult, hurtful, heartbreaking, or scary has happened to us.....something more beautiful and precious and perfect has been born from it. That's how I feel once I got my sea legs about Isaac's diagnosis, once we were out of the abyss of "failure to thrive" and he'll be deaf/never walk/ect stormy seas.

I know that because he keeps proving doctors wrong that this is the basis for questioning his diagnosis or the seriousness of 22q syndrome. I did. I most certainly did. Genetic defect is a dangerous label and one I do not want for him. If I could go back and never run the test, just deal with symptoms, I would. There has never been a time in history where having that label has a good outcome for the person wearing it. Maybe this era will be different, but as a history professor I kind of doubt it. I fearfully doubt it. This is something that keeps me up at night.

Really. More so than last year wondering if he would ever walk. Which he did, right before his third birthday. Wondering if he was really deaf, he passed his first hearing exam at 18 months. Wondering if he would never learn to read and enjoy books like I do, wondering if he'll ever be about to tell me about his dreams with words in the middle of the night, wondering if he understands what the world is really like.

I am grateful for his diagnosis too. Because of it, we are blessed with the most amazing friends. The 22q community online helps connect people. Through Isaac's struggles I met several local people who have kids with medical differences too, including another 22q family, and I now count them as some of my closest friends. They know. They know how much they mean to me because I remember to tell them often. That is something else I learned from them.

I have someone really special, magical, life changing playing outside in my back yard. He's singing to the chickens and sliding and swinging and tormenting his sisters with mudballs (which they LOVE) and when you see him from afar he looks and acts and seems just like a normal three year old. I am totally ok that folks think that. It's his cover identity. If that allows folks to get closer and get to know him and us, maybe that many less people will be afraid of "genetic defect". Maybe that many less "defective" babies will be aborted (yup, I went there). Maybe my fears that history will repeat itself will not come to fruition in his or his children's lifetime.

Maybe.

He is lucky that he doesn't have an obvious, physical medical need that reveals his story like a badge to onlookers. It is much harder for children who do, that's for sure. Much much harder. There are so many more children who have silent diagnosis. Maybe that kid melting down at the mall isn't a victim of bad parenting, maybe they struggle with sensory issues. Maybe the kids crying at the birthday party accidentally ate gluten filled cake and his tummy is cramping. So many families hide their issues for fear that talking, sharing, makes them a target of gossip. That's the last thing anyone needs and when you are in the depths of just trying to survive another day, one less thing to worry about is one less thing. That's one of the many reasons some families become reclusive and silent.

Not everyone gets the gift of our story. Gossip is like Diet Coke. It's fun in the moment, but on a cellular level it is killing you. Getting to know us is like peach pie made from scratch when the Missouri peaches are perfectly ripe. That pie is precious.  This life is precious.