It was one of those first days of summer. The weather was perfect. Cool in the morning, but warm enough for the kids to jump in the pool by afternoon. Our front room was being painted by an old friend. I had my brother’s kids over for the day too. It was just a typical day. Until the phone rang.
We always thought something was going on with our baby. From the moment he flew out of me, we knew something was off, but couldn’t quite put our finger on it. The doctors all knew too. His kidneys were checked. His heart was checked. His vocal chords were scoped.
We had endless doctor appointments with one specialist after another. But never really got an answer. Until that day.
Our little guy was born with hammer toes, low-set ears, weak vocal chords, wide-set eyes, poor muscle tone. Just to name a few. For an entire year we tried our hardest to get an answer.
Finally a geneticist he was seeing scheduled us for a test. A genetic test. To check for chromosomal abnormalities. We thought we were over all this. So we were a little taken aback. But whatevs, we had the testing done to get some answers.
We were sent home with a list of what this particular test was looking for. I spent endless hours on the internet searching all of them. I was able to rule a few out because of his symptoms. But there were many I could not.
One week went by. Nothing. Two weeks goes by. Nothing. Finally I could breathe a sigh of relief. No news is always good news. Doctors only take the time to call when there is a problem.
Then the phone rang. With the painter there. With a houseful of kids. With the pool waiting for us in the yard. I saw the number and stepped outside.
It was our pediatrician calling with the since forgotten results of the testing we had done weeks ago. I was really thrown off. I thought we were over this. Then I thought, oh he finally got around to calling us to tell us everything checked out fine.
Not today. For the first time ever, I was wrong.
I could barely make out the words he was saying. Everything was spinning in my head. I was just trying to wrap myself around what he was telling me. I was trying to keep myself together. The painter. The kids. The pool.
This was it. There was no guessing anymore. No thinking, it’s probably nothing. No more hoping it was all in our heads.
I had to call my husband Beau. I had to tell him. I can remember his voice. Not what he said, but his voice.
I got through the rest of the day. The painter finished. We got the house back in order. The kids finally went to bed. And that’s when I got scared.
We were to meet with the geneticists in the morning. Twelve hours away. We had twelve hours to just sit here and wonder what the hell this all meant.
We stayed up all night. Beau and I. We sat on the couch in the living room. Me on my laptop searching every possible place for more information. Beau wouldn’t look at any of it. He just sat there unable to sleep.
This is the moment I understood why so many couples with children with special needs get divorced. We could not help each other. We were totally unable to comfort each other.
When my parents died, Beau was there to comfort me. When Beau’s dad died, Beau was there to comfort me. This was different. There was no one to comfort me. There was no one to comfort Beau.
It was the loneliest night of our lives. And one of the longest. Neither of us slept a wink. When the kids got up we got them ready for the sitter. We were finally on our way to the hospital to get some answers.
It was so overwhelming. We couldn’t possibly digest everything we were being told. I just hung on to our baby as hard as I could. I just kept thinking it will be okay, it will be okay. He’s alive and from what I can gather, he will be for a long time.
We only told a few people about the testing. We had spent a year testing and trying to explain everything to everyone. So we were just tired. And we thought there was a definite chance nothing would come of it, so why bother?
I can remember being in my kitchen and telling my brother Juan. He was concerned and asked what is it they’re looking for? We said all sorts of things. But all we really cared about was that he would live. So many chromosomal abnormalities don’t end well.
So sitting in that doctors office that day, we just kept reminding ourselves of that. All we prayed for is that he would live. Our prayers were answered. This could be so much worse.
And that was it. In that moment we changed our tune. We snapped out of it. We stopped feeling sorry for ourselves. We got what we asked for. Now move on.
And we did. And we’ve never looked back. 22q11.2 Deletion Syndrome was now a part of our lives.
From that moment on, we threw ourselves into finding out everything we possibly could. We knew that knowledge is power. We had to learn everything we possibly could to help our son.
So we were thrilled when we heard there was going to be a conference on 22q coming up. We were pumped. The woman who was going to talk had a son with 22q and she was full of information.
It turned out to be the worst day of our lives. I cried for the entire seminar. We were really blindsided. Up until this point, we had read so much and heard everything the doctors had to say. But until we heard what to really expect from another mother, we had no clue.
That was a hard day. I cried the entire way home as well. My bestie Shelly called and I couldn’t even talk. Shelly and her husband and the kids came over right away. With flowers, pizza, wine, and smokes. Every possible thing we needed at that moment.
They stayed with us well into the night. It’s exactly what we needed to remind us we would be fine. We would get through all of this because of the awesome family and friends that we have. And with wine.
Our little guy was thirteen months old at the time of diagnosis. He spent two years in therapy 4-5 days a week. He started preschool this past April. He is amazing.
He has been poked and prodded more in his three years then I will be in my entire life. He always handles everything with a smile. He is the sweetest, most caring, and lovable kid we could ask for.
We were also very lucky that he is our fourth. His older brother and sisters are really the therapists we owe everything to. If it wasn’t for them teaching him his way in the world, like only siblings can, we’d all be lost.
There are times I stay awake all night with worry. There are times I can’t stop laughing. There are times I have to be medicated to get through the day. There are times I can’t stop counting my blessings.
We have a child with special needs. We actually have four children with special needs. This is what we have learned. Each one of our kids has their own struggles. They are each individual and handle things in their own way. And we’re just here to help them along the way.