The Gift of 22q

I always knew Peyton was different. From the moment he was born he just acted differently and we reciprocated appropriately. Of course, then we just thought it was because he was the youngest, we knew we were done having children; so that’s why we held him a little longer, gave in a little easier, and coddled just a bit more.

Looking back on it, I think we instinctively knew that he needed more from us.

We always knew he was developmentally delayed-the benefit of having 2 older kids to compare him to, but weren’t too worried about it. He would catch up, just later than his siblings did, and later than other kids.

He was diagnosed with “unspecified seizure disorder” at 15 months old and that would be blamed for much of his language delay. Our pediatrician suggested we do genetic testing to make sure we were treating everything correctly and it wasn’t a part of a bigger umbrella diagnosis. We thought he was overreacting and it was going to be a very expensive checkmark on an already long list of things we’ve checked for Peyton, but since we trust our doctor, and since he only had a handful of words by 3 years old, we agreed.

So, we were not prepared to get this diagnosis or all of the information and appointments that came with it.

The diagnosis: 22q

I had taken Peyton into his primary doctor’s office for an ear infection, and while waiting they said, ‘oh this came for you from the geneticist.’ Apparently, my cell phone was being weird and their calls weren’t going through, so the geneticist’s office forwarded the results to our primary pediatrician.

That’s how I got life-altering news: nonchalant fax.

22q deletion syndrome is a fancy way of saying you are missing part of your 22nd chromosome. The symptoms can vary based on how much you’re missing and where. It’s common to have kidney, heart, palate, immune system, and language issues. Immediately after diagnosis, we had to schedule an echocardiogram, an ultrasound of his kidneys, an EEG, and appointments with an ENT, Immunologist, and Cardiologist.

We asked the geneticist ‘What is his life going to look like? Will he live on his own? Will he ever even be in regular school?’ and they couldn’t answer because it is such a spectrum disorder. Jesse and I went to dinner alone after that appointment to process, to think out loud, and honestly to grieve a little. We said ok, they can’t tell us what his life is going to look like and that sucks but the flip side is that they can’t tell us what it WON’T look like. No one could say to us that he WON’T talk, that he WON’T be able to do a million other things.

It was a whirlwind of appointments, paperwork, and information. Suddenly we had “a team”, and I appreciate everyone but sometimes you stand back and realize, omg my child needs A TEAM of doctors and therapists, how crazy is this. Peyton’s tests all came back normal. His biggest hurdle is speech so far, but he’s making a lot of progress.

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he’s so cool he doesn’t even need all his chromosomes: The Gift of 22q

I will say the best thing about having an actual diagnosis is the instant community that you belong to. I loved taking ECFE classes, that’s where I’ve met some of my best friends and it’s always been a huge part of my parenting. Now I felt like I didn’t belong anymore because I couldn’t relate to their struggles. I then joined a special needs ECFE group but I felt like that wasn’t the place for me either. One kid had an inoperable brain tumor, another had debilitating sensory issues, and here I am like “uh…my kid can’t talk.”

It was like my kid was too special needs for the mainstream classes, but too high functioning for the special needs class. We didn’t belong anywhere.

I immediately got involved in the local 22q mom’s groups and that has been great. From getting doctor referrals to just talking to someone who gets it.

The gift of presence

It is so easy to get caught up in future planning and looking ahead to things. We all do it, it’s natural, but you miss out on what’s happening now. We have been forced to live in the present, to focus on NOW. He’s healthy. He’s happy. He’s learning new words and phrases every day and is proving to be feisty, and a little smart-assey. 22q has given us the gift of presence with our other 2 as well, and I think our whole family has benefited from that mindset. Jesse and I have always been pretty laid back, type B people, but living with something like this, as I’m sure other families can attest to, makes you just more relaxed about stuff. Some of the things you thought were a big deal before, just aren’t in the grand scheme of things.

We grieved, we adjusted, we see our blessings and the gifts we’ve been given, and we’re just living our best lives…With 22q.

Check out my blog post WHAT YOU NEED TO KNOW BEFORE SENDING YOUR CHILD TO KINDERGARTEN to read how I knew we would be delaying kindergarten for Peyton.

I want to hear your story

22q is one of the most common disorders out there, but I certainly didn’t know about it. Now I’m on a mission to raise awareness. What disorder affects your family and how can I help spread awareness? Email me and I’d love to research the disorder that is near and dear to your heart and do a blog post on it.