There have only been a handful of times where I’ve been completely shocked during my kid’s doctor appointments. It’s one of those eye-opening appointments where everything I thought about a certain diagnosis totally changes.

A little over two years ago, my son Nicholas saw a neurologist for the first time. Nicholas was born five weeks early due to lack of movement. After he came out we saw the cord was wrapped around his neck and twisted three times. During his NICU stay he had an MRI scan on his brain, which came back with negative results. Shortly after he had another MRI scan on his brain, which showed he had an injury on the left side. We assumed it was from the cord being wrapped around his neck at birth and not having enough oxygen to his brain.

During this appointment, his doctor told me the injury in his brain was on both sides and wasn’t as big as we thought. For it being so small he had a pretty significant developmental delay. She said there are kids with bigger brain injury’s but with less of a delay. We learned that the injury was probably not affecting his delay.

This doctor was very honest with me. She was the first person to mention autism because of how sensitive he was to touch. She was the first person to talk about genetics and how he could possibly have a rare genetic mutation. She was the first person to tell me that it was possible he got it from me. Because of my heart. That didn’t make sense to me. We had different outcomes. I didn’t believe her. I thought she was wrong. She didn’t know what she was talking about.

She asked me who I thought Nicholas looked like. I’ve gotten that question before from a few doctors. Or they ask me to see his picture. They’re trying to see if they notice any genetic characteristics. I don’t like that question. I don’t like how they’re trying to figure things out based off his looks. It’s offensive to me. I told her I thought he looked like me. She very bluntly responded with, “I don’t think he looks like you at all.” Because the indent on his nose and the shape of his forehead show characteristics of certain genetic disorders.

I will never forget that she said that to me or the way she said it. There was no empathy or compassion in her voice. I got really upset. I’m not sure if it was because she said he didn’t look like me or because she was stereotyping him.

She said there could have been a reason his cord was wrapped around his neck. Something could have happened in utero, something traumatic. A “chicken before the egg” kind of thing.

She ended the conversation saying that the best thing we did for him was taking him out early when we did. The second best thing was putting him in therapy as soon as we did.

It was an appointment I wasn’t ready for. She was very blunt with me.
Maybe I needed it at the time. On the way home I called my husband and cried.

About 9 months ago, Nicholas was diagnosed with autism. A week later he was diagnosed with a rare genetic mutation called ZNF462. Something he inherited from me. My daughter Grace was diagnosed with it as well. His doctor was right about everything she predicted about my family.

That doctor doesn’t work there anymore. Nicholas sees someone else for neurology. Someone more empathetic. The first time I met her I was 9 months pregnant with Grace. She brought in a yoga mat so Nicholas could scoot around on the floor so I didn’t have to hold him.

We saw her last week. She said Nicholas looks good and is very happy. Nicholas was playful with her. He’s not playful with just anyone. It’s something I’ve never really seen before from him. It was a good appointment. Much better than the very first time around.

Every once in a while, those eye-opening appointments sneak up on me. The ones where I’m left speechless, not realizing there’s potential for a different outcome. I can’t really prepare myself for it. All that matters is how I handle it. And it’s good to have a doctor who’s compassionate.