It was late November 2009. Isaac was 15 months old. I was standing in the kitchen when the call came. 

It was the genetics counselor from Texas Children’s Hospital. There was a built-in desk where the phone lived, but no one ever sat there. I made my way to the side of the kitchen island instead, notebook in front of me, ready to listen and ask questions. After the usual greetings and pleasantries, she cut right to the chase. 

“We found something,” she said. Confirmation. There was a reason behind all of the things that didn’t quite add up. And now, finally, we would know what we wondered about from The Very Beginning.

The genetic microarray showed that Isaac had a very rare XY chromosome variation, more of a number than a name. Yes, she said, it explained everything—the developmental delays, low muscle tone, and other physical anomalies. Yes, she said, the delays would continue. And yes, he would likely have significant learning disabilities. 

The phone call that changes your life, indeed. 

I don’t remember many details about the call itself, but I remember feeling stunned. This was a much weightier diagnosis than we ever anticipated.

The second call

The phone call I remember more is the one that followed. One of the hardest jobs I’ve had as a wife and mother is passing along information that I first received alone, so that I become not just the recipient but also the bearer of bad news. This has happened on several occasions now, but none is more sealed in my memory than this one. 

As soon as I got off the phone with the genetics counselor, I called Todd. He was at work in the medical center, now a fellow in minimally-invasive surgery. I caught him just sitting down for lunch and about to go into his second case. When I told him the diagnosis, he fell utterly silent. He’d never specifically learned about this diagnosis in medical school but was familiar with the more common XY chromosome variations. He understood the gravity of it immediately, even more than I did, which doubled my own fear and concern. He was stricken, instantly in tears. 

When we got off the call, Todd walked into the OR and told his program director he had to leave–something fellows just don’t do in the middle of the day–and then turned and left without another word. He’d received devastating news and could not stay at the hospital. Todd says that memory is so vivid, he can access it any time to this day.  

The search continues

That afternoon and evening, Todd and I searched everything and anything we could find on Isaac’s genetics on Google and PubMed. There wasn’t much, and much of what was out there was terrifying. (Turns out there aren’t many studies on genetic variations nobody’s ever heard of, and what gets the most press are the most dramatic cases.) 

We finally found a website started by a mother with profiles and photos of other boys with the same diagnosis. There were some less terrifying stories there, though they were all still hard to read. And there were mentions of a neurodevelopmentalist in Maryland who specialized in XY chromosome variations and even hosted a small conference for families. This felt like a lifeline. In the days and weeks that followed, we contacted Dr. Carole Samango-Sprouse of The Focus Foundation and made plans to take Isaac to Maryland for a full neurodevelopment evaluation, coinciding with the annual conference. 

On the same site, we found an essay by Emily Perl Kingsley, titled “Welcome to Holland.” To us, it was a much-needed consolation in the face of news we never truly anticipated, though I spoke to a friend several years later—another mother of a child with disabilities—who told me she hated it. I might feel differently, too, if someone handed it to me to try to put a band-aid on my grief. But maybe because we happened upon it ourselves, and at just the right time, it really resonated with us. To this day, Todd and I still feel like we got on a plane that landed in a different destination from the one we had planned.

Stay and change

That simple essay is the only real consolation I remember in the early days and weeks. Todd and I were devastated, for our son and for ourselves. I remember sobbing in bed that first night, feeling like we’d received a life sentence. We didn’t love Isaac any less. Full stop. But the reality of the diagnosis and all it would mean for our life together was overwhelming—and no small point, not what we wanted for our future. It was brutally hard to accept. 

What I wanted to do was run, except that I loved my husband and I loved my baby. I’m sure it’s what Todd wanted to do, too. But we didn’t. We stayed. And maybe that’s the best part of the whole story.

Many months later, I called a trusted mentor to talk about the anguish I was still experiencing. He was never one for long phone conversations, but he was compassionate and kind. He listened to my heartbreak and gave me space to grieve. “This is the first time,” I told him, “that there’s something in my life I can’t change.” And his response, I’ll never forget: “You can’t change the circumstances, but you can change.” And that has been our life’s work from the day Isaac was born.