Many years after we received Isaac’s genetic diagnosis, I would speak to a friend who told me about her feelings when she had her son tested for autism. She and her husband were struggling but reminded themselves that whatever the result, nothing about their son was changing. He was who he was, the same regardless of how the test came back. This was very true to my experience of learning Isaac’s diagnosis. It didn’t change how I felt about him in the slightest. He was the same to me, my beloved child, before and after the diagnosis. If anything, he seemed more vulnerable, which made my love grow even fiercer.  

All of that is deeply true. And … it still didn’t soften the blow. 

The weight of it

What the test gave us was more information, an explanation for all of the things that hadn’t made sense since his birth and a starting point for how to understand his development, both looking back and moving forward. And those were very important things.

But there was no sense of relief in learning Isaac’s diagnosis, no sense of a weight being lifted now that we’d finally figured it out. It was more like an onslaught of hard things, harder than we’d ever imagined when we didn’t know the cause. It didn’t feel like a “better” phase, just a different phase. If finding the diagnosis was an anchor to steady our ship, which had hitherto been tossed here and there by the waves, now it felt like we were tied to the anchor and steadily sinking to the bottom of the sea, where we might very well drown. 

Decisions

We realized very early on that we had difficult decisions to make, many of which were unique to our situation. Some disabilities—a word I wouldn’t have used at the time (see The Language of Disability)—are apparent, evident in particular physical characteristics or requiring wheelchairs or other adaptive devices. Isaac’s differences were not immediately recognizable, and one of the first things we had to decide was how open we would be about his diagnosis. We were mindful that this was his private medical information and that he wouldn’t always be a child. We were the keepers of that information and wanted to use it respectfully and responsibly.

We truly didn’t know what to expect as Isaac grew and developed and didn’t want him to be defined by anything but his own personality and capacity, which would only be revealed over time. We decided to tell our immediate families and share openly with medical professionals and therapists but otherwise keep the diagnosis to ourselves. Later, when he started school, we talked more about the implications of his genetic diagnosis, which was more informative and helpful than anything they might google about it anyway. 

Over time, we have become more open about Isaac’s diagnosis for a number of reasons, none without thought and intention: 

1. Now that Isaac is older, his differences are more apparent. People can tell he is neurodivergent, even if they can’t articulate why. 
2. Isaac is very outgoing and open. We have always tried to talk to him about his differences in a way that is natural and accepting. The diagnosis is just part of who he is and nothing to be ashamed of or hide. (These were never our reasons for keeping quiet about it, and we don’t want it to seem that way now).
3. When we’re out in public, I think most people assume Isaac is on the autism spectrum. Many of his classmates are, but Isaac is not. Autism Spectrum Disorders (ASD) and other, more recognizable disabilities are more widely understood now than in the past, an important sign of progress. But rare genetic disorders like Isaac’s are not well understood. As Isaac has grown and become his outgoing self, we have given more thought to the value of raising awareness, both for the sake of people with XY chromosome variations and for the sake of the world, which can be a better place when it knows better.

49XXXXY

In recent years, I’ve written a couple of pieces for The Focus Foundation about Isaac’s particular diagnosis: a post about XY chromosome variation awareness, and another, The Staircase, on our first trip to a small family conference and neurodevelopmental evaluation with Dr. Sprouse. I won’t repeat those stories here, but I do encourage you to read them and share them if you are so inclined. 

What I will take this opportunity to do is to remark briefly about just how rare Isaac‘s genetic variation is and what that has meant for us as a family. 

After our initial phone call, we set up an in-person visit with the medical geneticist and the genetics counselor at Texas Children’s Hospital. If you aren’t aware, the medical center complex in Houston is the largest in the world; the geneticist at Texas Children’s told us he had been there for 25 years and had never seen this diagnosis before. 

Several months later, when we met with Dr. Sprouse, we learned that Isaac’s is the rarest of the XY chromosome variations, at an estimated 1 in 85,000 to 100,000 live births. For comparison, Autism spectrum disorders occur in 1 in 36 children (in the US) and Down syndrome 1 in 700 babies. Angelman Syndrome, another rare genetic disorder, is estimated at 1 in 20,000. During our first visit, Dr. Sprouse told us we would likely never see a doctor who had another patient with Isaac’s genetic variation, and that any doctor who treated him would likely never see another patient with 49XXXXY during the course of their career.

What that meant for us, in practice, was that we had to become the experts in understanding Isaac’s diagnosis, because we would have to explain it to every doctor who treated him. Ever. There were no growth charts or other measures that would give us a roadmap for what to expect. We had an amazing resource in Dr. Sprouse, whose research centered around XY chromosome variations and had led her—by request from the families she met—to host a small annual conference. Beyond that, we were largely on our own. 

More to follow

Those of you who know Isaac and know our story are aware there is a second diagnosis that followed many years later and took over seven years to identify: PANS, or Pediatric Acute-onset Neuropsychiatric Syndrome. Our starting point, Isaac’s incredibly rare genetic variant, made it that much more difficult to recognize there was something else amiss in our child. This combination of diagnoses—a rare genetic disorder and PANS—is the crux of our story and why I feel compelled to tell it. (See The Short Story.) But I’m getting ahead of myself.

Thank you for following our story and for all you are doing to help raise awareness and generate compassion and understanding for medically-complex children and their families. There is work still to do.