We lived in Vienna and Madrid, a bit in London and Zurich, a few months in Milan. We thought we would go back after the baby was born, at least for a few years. We were pretty excited about the prospects of bringing up a worldly child! I was working in Chicago at the time, Rich was in Venezuela.
And then I had an amniocentesis. I was a bit older and my OB thought it would be a good idea. The results were, at first, seemingly benign. But, as the doc looked further into it, it was more than a satellite on a chromosome. It was a deletion of part of a chromosome. And, there it was, Sam was the first person to be diagnosed with 22q13 deletion in utero. Sixteen years ago, pretty much unheard of, and so was 22q13 deletion. That is how our journey started.
Two months later, Sam was born at 32 weeks, 2.4 pounds, 13 inches long and spent the next 5 months in the NICU; first miracle. In a way, it was a (mixed) blessing. We were so entrenched in his care while in the intensive care, just praying he would survive, that the hardly known genetic condition he had was not a priority. Even the doctors were a bit unnerved when talking about it. We just didn’t know anything.
And then another miracle, when we got home, we had visiting nurses for Sam and one of them happened to know a nurse who had a child with a disability. This disability was 22q13 deletion. The family lived a mile away. And, their daughter (Caitlin) was one of the original cases in the first article written by Dr. Phelan about the deletion.
We went to the first meeting in 1998 and have not looked back.
Sam has struggled medically over the years. He is very small for his age, has trouble gaining weight, began having seizures when he was 14 and had scoliosis surgery last year. Sam has endured so many procedures and hospitals. But, he also rides horses, loves bicycling, goes bowling and is learning to love all kinds of music. He even has a 5K named after him! He has a smile and giggle that will warm your heart. And, like all of the children in our group, he has influenced so many lives. Everyone knows Sam.
It is not the life anyone would choose for their child. It is not what any of us expected. So, we have all changed our definitions and expectations. But, in this journey, we have met each other. We started out thinking that we would travel the world with our child and now we have people from all over the world coming together because of him and so many others; some in London, Melbourne, Houston, Chicago, Sarasota and all parts of the world. And, together, with help from scientists and advocates, we can improve the quality of so many lives…. including Sam’s.
A thought from a thoughtful aunt:
I talk too much. My sister tells me that I don’t know a stranger because I talk to everyone. I truly love people and I love to get people to smile. That is different with Sammy, my nephew. I still talk, but he talks to me through his eyes and through his laughter, or rather, giggles. With Sammy, I don’t get to talk as much, so I am learning to listen. When he wants something, he will put his hand on mine and look at me. Just looking at me, I know what he wants. When he thinks something is funny, he doesn’t hold back. He giggles and giggles and giggles. Most of the time, I don’t get it. What’s so funny Sam? I think I need to talk less and listen more so I can giggle with Sammy.
“I will not play tug o’ war. I’d rather play hug o’ war. Where everyone hugs instead of tugs, where everyone giggles and rolls on the rug, where everyone kisses, and everyone grins, and everyone cuddles, and everyone wins.”– Shel Silverstein
— Aunt Debbi