More Than a Diagnosis
It is estimated that 1 in every 12 to 20 thousand children are born with Angelman Syndrome in the United States. To put it mildly, Maddie’s diagnosis is pretty unique. The geneticist that was on call for our last appointment had over twenty years of experience. Not only did he have twenty years of experience, he had actually had a rotation at an Angelman specific clinic. He told us he had seen less than 100 children diagnosed with AS throughout his career.
Since Maddie’s condition is unique, we’ve grown accustomed to her hospital room being full of residents and doctors. Typically we’re asked if this is okay, and of course it is. One cannot simply learn by reading about the syndrome, at times they need a hands on experience. Nicole and I were told early on that we need to be the experts, since normal clinics have little to no experience with Angelman Syndrome.
I’m okay with Maddie’s treatment being a case of curiosity. Our last experience at our pediatrician’s office however, was not okay in my mind. Now granted, this wasn’t done out of malice. Looking back, I’m sure the medical assistant might want to take back what she said. I’ll set the scene.
Maddie came down with a really bad cold a few weeks ago. With her history of pneumonia and the Omicron Variant running rampant on the west side of the state, we decided that it was best to have our pediatrician take a look. I brought her in and the medical assistant asked the typical questions. I answered what medications Maddie was on, and what her symptoms were. Then the MA said it.
The medical assistant said, “Oh she’s so happy, but we know why she’s so happy.” The first thought that came to my mind was that she's happy because she’s loved. She has two parents that are hands on and countless others in her life that care and love her. She continued, “Don’t you hate it when people bring up that she’s always smiling?”
I shrugged this off. I took Maddie out in the hallway to get her weight. Another employee commented, while she was on the scale, that she was so smiley and happy. The MA picked Maddie up and brought her back into the room. When the door was closed she said, “See what I mean?” Maddie then unloaded five huge sneezes all over the MA. That might’ve been what some people call karma.
Like I stated earlier, I don’t think the MA’s comments were out of malice. I think they were out of ignorance. The MA in question stayed in the room for another five minutes and asked me all sorts of questions about Maddie’s diagnosis. She told me this was the first child with Angelman Syndrome that she’s ever come across. I get it, Maddie’s diagnosis is rare.
She didn’t realize that Maddie has a personality. She’s stubborn, she’s feisty, she’s curious, she’s not always so darn happy. Maddie is not a child on autopilot. Sure it’s called “Happy Baby Syndrome”, but it’s not why Maddie’s so happy. She’s happy because she sees the world in a different light and she experiences a loving home each and every day. We might have a diagnosis for Maddie, but she is not a diagnosis. She is the product of a happy and loving home.
I’m sure this is the first in a line of people who might stick their foot in their mouth. I hope that this journey we’re documenting shows the light that Maddie is. She’s not a light because of her diagnosis, she’s a light in spite of it.
-Written by Adam Birchmeier
