Ronin was born on April 21, 2020.

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     We. Were. Elated! After seven years of trying to have a child, our little beautiful boy was finally here. But when the nurse placed him on my chest, I was immediately concerned. He was barely breathing. He was a grayish purple color, his jaw was off-centered, one eye slightly open and the other completely closed. Little bubbles came out of his mouth while he took tiny irregular breaths.

     “Isn’t he supposed to start crying? Is his face purple?” I vaguely remember someone gently but diligently removing him from my chest, trying to reassure me.

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     “He’s just bruised from the delivery, it’ll go away soon.” I flashed back in my mind to nursing school and the topic of Apgar scores.

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A=Appearance. He’s purple. He’s gray. Wait… was his whole body purple?

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I have see him again.

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I couldn’t at that point.

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I felt trapped.

     They’d brought him across the room, back to the warmer, aka the fancy bed with a scale and warming mechanism that newborns are placed in for initial assessments. He was still so quiet. I was stuck in my bed, getting sewn up. Soon, more people entered the room. I knew what that meant. I knew a “rapid response” had been called. Then came the panicking.

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     Every moment of my pregnancy: the process of in-vitro insemination, the needles, my dreams for him, my dreams for us -all flashed before my eyes. I hear the suction. He finally cries. Phew, he’s going to be okay.

     Days and months passed, he would barely eat and he spit up multiple times a day. I thought it was me. I thought, maybe I wasn’t making enough supply, or maybe he was allergic. We started to supplement with formula, but still no change in appetite. No decrease in reflux. The pediatrician wasn’t very concerned, he was still gaining weight and still getting taller. We were told to keep him upright for 30 minutes after eating. I know as a nurse, this is—in fact—something we do with patients in the hospital who have GERD, so we followed instructions.

     As he grew, he missed milestones. He wouldn’t eat much, he was so sleepy all the time. For about the first year and a half of his life, we continued to express our concerns, but were told something along the lines of, “every child grows at their own pace”. Time passed and he still didn’t eat much. He was falling farther and farther behind. And, he was sick ALL the time.

 

     We started to see specialists: gastroenterology, neurology, a pediatric behavior specialist.

Still no conclusion. The neurologist recommended an MRI, but best practice is to wait until the child is two years of age. Since nothing really emergent was happening, we decided to wait.

Ronin’s MRI results were overwhelming.

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     “Symmetric signal abnormality involving the deep and periventricular supratentorial white matter, concerning for either an acquired leukoencephalopathy or inherited disorder such as leukodystrophy. No additional findings to suggest a specific diagnosis.”

     I didn’t know what to do. It was a Friday. I read the results online before the PCP even called me. So I called her. Twice that day. Then once after hours. They finally returned my call and informed me of a STAT referred for genetic testing.

 

On September 6, 2022, our lives changed forever.

His results came back.

 

     “Your son has a genetic disorder called Cockayne Syndrome.” Okay, cool. What does that mean? His doctor and the genetic counselor were looking at me (Chris was on Facetime with us) with eyes full of compassion. I thought, oh no. I think this is bad. Is this bad? They started to explain what it is. There are different types of CS. Ronin has Type B. We were told he will likely live into his teen years. The disorder causes rapid aging, developmental delays, and eventual loss of vision, hearing, speaking, walking, and inability to swallow. If he makes it past 15, he may likely develop dementia, diabetes, and high blood pressure.

 

A parent’s worst nightmare.