When you grow up a high achiever and learning comes fairly easily, and you’ve been taught your whole life to value education and accomplishment, the last thing you expect is to have a child who cannot and will not follow the same trajectory. Talk about a re-ordering of your values system.

At one and the same time, I wanted to know everything I could learn, to meet all of the families I possibly could whose sons shared Isaac’s rare genetic variant, and also to keep it all at arms length—because I was programmed my entire life to spurn whatever was not advanced, intelligent, or typically considered beautiful. This is hard to admit, but part of me wanted to reject everything that came along with my child’s diagnosis. And this was not an isolated feeling; it was persistent. 

Table talk

In many ways, Isaac didn’t “look” like the other boys with his diagnosis (see A Rare Diagnosis), many of whose physical differences, motor and speech delays were far more apparent; so even in that community, we felt like our experience as parents was unique. Dr. Sprouse, our neurodevelopmentalist in Maryland who has seen more “49er” boys than anyone in the world, told us early on that Isaac reminded her of another young man named Nate (name changed) who was several years older and doing remarkably well. As you might imagine, we were eager to meet his family. 

Through a private, online parent group, I reached out to Nate’s parents in the summer of 2011 to see if we could arrange some time together at the next annual family conference in Maryland. They were coming for an evaluation, his mother told me, but would not be attending the conference. (Apparently, Nate had begun to ask questions the previous year about why they brought him to meet with this group of kids, which I took to be a welcome sign of awareness on his part.) They would, however, be having dinner with another 49er family at a local restaurant, and they invited us to join. 

Isaac was about to turn three. He was toilet training, I remember, and everyone at the conference had been asking if we were sure Isaac had 49, because his appearance and development were so close to typical. Todd and I were very curious to meet Nate and speak to his family, and they were quite taken with Isaac. Nate’s mom noted several similarities between our two boys, and Todd and I enjoyed a brief conversation with Nate, who was twelve. But what I remember most from that night is something the dad of the other family, Randy, said after dinner.

Someone had made a comment during the conference about all of the boys looking similar, which didn’t really resonate with me (or with Nate’s mom, I learned). I was more struck by the degree of variability in the boys we met—from notable physical characteristics and a wide variety of medical problems and mobility issues, to speech impairments and behavioral problems. As the parent of one of the youngest boys there, I wondered how it was even possible to know what to expect. 

In the midst of this conversation, Randy said: “We’ve been to the family conference for several years, and after meeting so many of the boys, I feel like all of them have about three things, and it seems like just a roll of the dice as to what they are.”

A roll of the dice

I could hear my mother’s voice in my head, immediately rejecting such a fatalistic view. But the spiritual fortress of my pre-parenting youth was long since breached, and I took the comment in to observe and consider. I didn’t think too much of it, but it stayed with me. And over time, I have tended to agree: There seems to be no rhyme or reason as to why some of these boys have certain health problems and others do not. (Just as there seems to be no rhyme or reason as to why they have 49XY in the first place.)   

The older I have grown and the longer I’ve been Isaac’s mom, the more I see honesty and truth-telling as deeply moral values. Randy was just being honest about what he observed. And for me, he hit on a couple of other truths that apply to all parents: 1) that there are factors beyond our control when it comes to our children, and 2) that we are naive to think we’re immune from hard things or that our kids are somehow different from others. When Isaac was still young, it seemed he had dodged most of the health problems we saw in the other boys. But I would recall this comment again many years later when we received Isaac’s PANS diagnosis. 

I don’t know why PANS is Isaac’s burden (and ours) to bear. Maybe his genetic variant made him more susceptible, and PANS is just one of his “three things.” The truth is, there is no good answer. (There are plenty of bad answers, and bad theology with them.) At some point, the “why” just isn’t helpful. Isaac has PANS just like he has 49. It’s ours to deal with because Isaac is ours. Now what do we do with this “roll of the dice”?

Rethinking progress

We do what we have to do, first and foremost, to advocate for our child, to address his atypical development, medical needs, and overall health and wellness, to help him learn to his potential, and ensure he has a sense of belonging in the world. (Let me assure you, these are no small tasks.) 

And for my part, I try to tell the truth about how we bear the gifts and scars of our unexpected story. I’ve said it before, but it merits saying again. Parents of kids with disabilities are not given some special dispensation that prepares us to handle everything that comes our way. We are just like other parents, but we inherit a workload and an emotional load a million times harder from the day our child is born. (Yes, I have a neurotypical child, too.) Some are able to make peace with their assignment from the beginning, while others among us struggle. We don’t love our children any less, but we feel in our bones the incongruence between our culture’s values and our child’s reality. We feel suspended between two worlds.

For me, advocating for Isaac is not only bringing awareness to his disorders but also to what the neurotypical world can learn from the world of disability. It’s an appeal to bring our two worlds together. The world around us expects neurodivergent kids (and adults) to conform to what is—to figure out how to fit in with the norms we all take for granted—but if progress is what we’re after, we have it entirely backwards. The re-ordered value system of the disability community, which celebrates kindness and diversity and acceptance and vulnerability, is far more advanced than the value system of our current culture. We should be taking cues from them.