To the Geneticist Who Knows a Condition but Not My Son

I arrived at my son’s Genetics appointment uncharacteristically early, eager to get it over with.

We spent an hour in the waiting room and another 30 minutes in the examination room. If you know anything about 1-year-old kids, you can imagine this was not going well.

Finally, the door swung open, but you were mid-conversation with the team of people behind you. “…He’s classic PWS. You’ll notice the narrowed bifrontal diameter —” you stopped as you looked at my son Evan, who was smiling mischievously as he pulled an otoscope cord out of its outlet for the millionth time, “Well, perhaps the facial abnormalities aren’t as severe as I remember.”

That’s right. I thought. He actually looks a lot like his uncle Jeff. And his dad.

You took your rolling seat as others crammed into the tiny room. “So,” you slapped your hands on your knees and leaned forward, peering over your glasses. “How are you doing, you know, with the diagnosis?”

“Um, well, the diagnosis isn’t great, I guess, but Evan is awesome. He’s doing awesome.”

I recognize this wasn’t the most eloquent response, but in my defense, your greeting wasn’t exactly welcoming.

You waved one hand behind you, arbitrarily introducing the people in the room — the resident, medical students, two nurses, a nutritionist. I didn’t recognize any of them from our first appointment, but I suppose rare diagnoses might attract a crowd. Everyone, come look at the kid who is missing a hunk of his 15th chromosome!

After confirming Evan’s height, weight, and current medications, you reminded me about parts of his Prader-Willi diagnosis — the insatiable hunger and accompanying behavior issues. You told me I should be mindful about who we allow to care for him as most people probably won’t be able to handle him in a few years. You said if I thought things were hard now, just wait — soon restaurants, holidays, and public outings would likely be impossible. You talked about the “probably nots” and “definitely nots.”

You said if Evan learns to walk, it won’t be before his 2nd birthday. “He’s making great progress. Physical therapy is going well. He’s hitting many of his milestones —” I protested.

You continued, seemingly uninterested. There didn’t seem to be room for good news.

You acted surprised when Evan kept interrupting, “He seems to be vocalizing a lot. That’s somewhat unusual for his age and his diagnosis.” It’s a rare condition. How many kids have you really seen with his diagnosis? How are you so certain about what “they” can and can’t do? 

Evan proudly held up a piece of the paper he ripped off the table lining. I nodded and smiled back at him.

I explained we receive exceptional care through our endocrinologist and the rest of our medical team, to which you replied, “They get paid a lot of money to write scripts.”

Cue eye roll.

As we walked out of your office, I leaned in to Evan, snug in his stroller, and whispered, “Don’t worry bubs, dude’s a jerk.” Except I didn’t say jerk. I used a few colorful words.

The point is, no amount of research or a PhD qualifies you to determine what my son is going to be like. He’ll decide. While I recognize the value of being well educated and realistic about my son’s condition, I see greater value in getting to know him as the individual he is. You know what the textbooks say. You know more about the chromosomes and the clinical side of this diagnosis, but you do not know Evan. The 14 genes he’s missing affect him profoundly, but the other 24,986-plus healthy, active genes are uniquely his. There is no greater pleasure than getting to know him. He surprises me every day.

We don’t plan to be back to your office.

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