The Difference a Diagnosis Makes: Knowing It Was Noonan

by April Brownlee

You know that spot at the very top of a roller coaster–that split second where your car is balanced perfectly at the point of the hill and your heart pounds because you know you’re about to plunge downward?

Seven years ago today.

December 12, 2007. It was afternoon. I’d heard the words “Noonan syndrome” before. But on this day, they carried so much more weight as it became the official explanation for all we had experienced… it had already become a part of our lives. And it will always be a part of Catie’s DNA.

Many times before that day doctors told me there was no hurry to achieve a diagnosis for Catie. “What would it change?” they asked. “Nothing,” they would tell me, answering their own question. Over and over, I was told it wasn’t worth pursuing a diagnosis because it would be complicated and it wouldn’t change Catie’s treatment plan. We would just manage symptoms, they’d say, no matter what the cause.

But that diagnosis changed everything. Noonan syndrome isn’t who Catie is. But it’s a huge part of who she is. Noonan syndrome is part of how she looks, how she grows, how she develops, how she acts, how she moves, what she can and can’t eat. No, it’s not who she is. But it’s a part of every part of her.

When Catie was three, I began having gentle conversations with her about her diagnosis. I stole our quiet moments in the car when it was just the two of us and carefully broached the subject. I was so grateful I had a name to give it. I can’t imagine telling a child–or anyone, really-they’re experiencing such chaos and nobody knows why.

Knowing what is responsible for all that Catie experiences also makes ME feel better. It may sound selfish to you. After all, I don’t have to live with a syndrome. But I did have to fight for that diagnosis. I stayed up all hours of the night researching symptoms. I lumbered at the back of a room, restraining my ownself, while various people in scrubs strapped my screaming baby to a cold, hard board to conduct x-rays and various other imaging. I routinely counted her respirations at 2 a.m., decisively armed with a number that would gauge for me at what point we should head to the emergency room. And when that time came, so many nights, I carried her into the ER while her dad stayed home with our older child. I sat there, alone, whispering in her ear, “You can count on me.” I gave myself a pep talk in her hospital room in the middle of the night as I battled through a fever, shivvering uncontrollably, still somehow coaxing myself into enough coherence to assist in her round the clock breathing treatments. So, yes, I wanted a diagnosis. Probably more than anyone. I just needed to know.

And now I do.

Then I guess we began the descent to the bottom. Everyday since that day has felt so much less weighted than all the days before.

These days, from time to time, when something about herself seems curious to her, a very sassy 8-year-old Catie cocks her hip to one side, sticks out a leg, tosses her massively curly hair and asks me, “Is that ’cause I have syndrome?”

“Yes,” I answer, choking back a snicker and some tears. “It’s because you have syndrome. Noonan syndrome.”

If you would like to learn more about Noonan Syndrome, a RASopathy, please visit https://rasopathiesnet.org

You can also visit Team Noonan for more information.