Ann Worley Shares Her X and Y Chromosome Variation Awareness Story

If you’re reading this post, it’s likely that you love someone with an X & Y chromosome variation, or it’s been reposted by someone you know who does. For those who are not familiar, please allow me to introduce you with a brief genetic synopsis and a window into my life as a parent.

Most of us are born with 46 chromosomes, XX being female, and XY male. There are multiple X & Y chromosome variations, however, with duplications of either the X or Y chromosome. While these variations do not affect sex (the presence of a Y=male), they can cause developmental delays, learning differences/disabilities, and problems with executive functioning, among other medical challenges. It is estimated that as few as 25% of people affected are properly diagnosed.

There are multiple numeric variations—47XXY, 47XYY, 47XXX, Tetrasomy X, Pentasomy X, 49XXXXX, 48XXXY, 48XXYY, and 49XXXXY—and within each one, a wide spectrum of experience. Some variations are more prevalent, like 47XXY or Klinefelter’s (1 in 600), while subtypes with more duplications are incredibly rare (1 in 85,000-100,000).

Now, what I’m about to tell you is quite ironic, given that I’m writing this blog post.

Twelve years ago, when our then 15-month-old son was diagnosed with a rare XY chromosome variant, my husband and I made a decision not to disclose it except to his doctors and our immediate family, and later, to his school. In conversation with friends and acquaintances, we would simply say that Isaac had a rare genetic difference and talk about the specific challenges we were facing at any given time, like fine and gross motor delays and speech.

It was not a decision we made lightly.

Isaac didn’t have a visibly-identifiable disorder, like Down Syndrome, or something more commonly recognized, like Autism Spectrum Disorder. By comparison, his XY chromosome variation was relatively unknown, which presented us with a choice about whether or not to talk about it openly. When we looked up the diagnosis online, the information we found was bleak and frightening. Even as an infant, it was clear that our son was bright and capable, if not typical—that he was not, in fact, destined for the dire projections we read on our screen. We didn’t want a grim prognosis to determine anyone else’s impressions or treatment of our child.

To be fair, we found Dr. Sprouse through that same google search and met her for the first time just a few months later. Part of her mission through The Focus Foundation was to spread the word about X & Y chromosome variations, to conduct much-needed research studies, and to educate the public with better, more accurate information. We valued her work and participated in the studies…and continued keeping the diagnosis to ourselves.

All these years later, I still sympathize with our decision, though my sensibilities and rationale have evolved in line with our son’s complex development. Isaac’s strengths and challenges have become more apparent with time. From the beginning, we have been mindful that he would not always be a child and that we were not owners, but stewards of his health information. Now, it’s clear that he needs us, his parents, to help tell his story and pave a way for him in the world.

Isaac is a teenager now, a handsome, charismatic kid with sandy blonde hair and a contagious smile. Socially, he is incredibly outgoing and connected, though he needs support with peer-to-peer interactions. It’s clear that he is not neurotypical. His greatest obstacle to learning is not intellect but self-regulation, which makes academic progress challenging. Isaac is sensitive, funny, observant, and keenly aware that he is different from other kids. He is an original.

The XY chromosome variation is just one slice of Isaac’s story. But it is a significant, foundational, and determinative factor. Sometimes I wonder what assumptions people make when they meet him out and about and what it would be like if more people were aware of his specific genetic variation. Having raised a child for 13 years with a rare disorder, I almost can’t imagine.

X & Y chromosome variations don’t get the attention of more “known” disorders. But greater awareness can change the landscape, for Isaac and for all who are affected.

Here’s how:

• Greater awareness leads to more funding for research studies like the ones the Focus Foundation is conducting.
• Those studies can lead to better recognition among doctors, especially pediatricians, who can screen for potential cases and recommend genetic testing.
• Better recognition among doctors will result in earlier diagnosis and intervention, which leads to better outcomes for affected kids.

And there’s one further hope I have, for my Isaac and for others, that greater awareness could actually change the world they inhabit.

For some, the genetic difference is entirely invisible, only discovered when testing for other medical issues in adulthood (or never discovered at all), while others are more profoundly affected. For both ends of that spectrum and every person who falls in between, we need to advocate for more understanding and acceptance of people with differences and disabilities. We need to build a society that practices kindness, gentleness, and humility in the face of what we do not know.

This is my ultimate hope and aim for X & Y chromosome variation awareness: nothing short of changing the world to be more hospitable, loving, and respectful to those who don’t quite fit the mold. Let’s remake it, better for all.

– Ann