What goes on in there?
I began this blog three years ago with links to interviews I was doing at the time to promote my book. Along the way since then I’ve continued chronicling the ongoing story of the subject of that book (my son Joseph and/or the conundrum behind disability), interspersed with occasional thoughts about writing and reading in general (since that too is important to me) and a snippet or two of what I hope is generally useful insight. I see other writers doing the same on their blogs, possibly with more behind-the-scenes peeks into their daily lives, personal neuroses, ambitions, etc.:
- “This was a good day. Got a chapter finished…”
- We will not see the like of Elmore Leonard again…”
- “I really want to go to Hogwarts… I want Hogwarts to be real.”
Typically, the main point of an author’s blog is to let the reading public know about the existence of a certain book. If the blog is amusing or compelling in some way, visitors may feel moved to take a chance and order a copy. At least, that’s what happens when I find a good author site (Sarah Hoyt’s springs to mind). But blogging is much more than simple promotion. As a public record of what is happening in the author’s world, it can be meaningful when those events have a bearing on the author’s subject, or the creative process, or the joy of reading. That’s when web surfers may glimpse a dynamic connecting the author’s life and efforts and shining a light on the reason the book had to be written.
All this is meant as a sort of apologia for the fact that my posts this year have focused on a renewed effort to identify and perhaps even once again help my aging son. That process is a wheel that turns with exceeding slowness, so even when the cause is uppermost in my mind, updates are infrequent. Apparently it must be uppermost in my mind, and I must be persistent, for the wheel to turn at all.
“Patience is a virtue,” according to a very nice lady who phoned yesterday with the results of Joseph’s microarray.
She said that because the medical center will now be initiating a request for another genetics test (this time of me), and she didn’t want me to expect that it would occur at anything approaching flank speed.
Backing up a bit, it’s now finally known that Joseph is missing “a relatively small piece of DNA” on chromosome 11, including part of one gene (identified as LRRC4C). This is “a variant of unknown significance,” because there isn’t a population of other people known to have the same deletion. Therefore, we don’t know if it’s responsible for Joseph’s condition.
Nancy, the lady who called, compared the gene to an anonymous building. We don’t know what goes on in there, she said.
If I too have the deletion, then its familial, likely benign, and we’ll have to look elsewhere for the source of his difficulties.*
However, a few minutes of online research has yielded the news that this gene may be involved in development of thalamocortical neurons, which in turn are involved with transmitting or processing sensory information. It makes sense, at least, that disruption of this might lead to an autism-spectrum disorder, which is the default label applied to Joseph.
(Hmm, I wonder if a full complement of DNA in this gene would also have given Joseph normal height, a heart without a murmur, etc. Oh, and I almost forgot: Perhaps it would have enabled Joseph to walk on schedule as a child. It’s a mysterious building indeed.)
Despite all the above, life for Joseph continues as before. I’m feeding my own inner demon but accomplishing nothing for him. Still, just as technology has emerged to make this test possible, gene-editing therapies may be in the wings.
Maybe.
*UPDATE: Albeit slowly, the story does continue to unfold, which is a reason for new blog posts. But a footnote is needed here to say for the record that we now know I, as Joseph’s father, have the same deletion on chromosome 11. Since I’m not disabled, this is unlikely to be the explanation we’d thought it was. A more expensive procedure called whole exome sequencing can provide more detailed analysis. I would like to have the info that would yield. At the same time, it boggles my mind that we must delve so deeply to find the basis for a condition so manifest.
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