Facebook

dup15q: The Road Not Taken

By on Mar 10, 2018 in Apraxia, dup15q |

Collin and I were cutting vegetables for a salad on Wednesday evening, making a quick dinner before yet another baseball game in the sea of baseball games that have become our life lately. I was chopping the tomatoes into little pieces when the phone rang and I answered with my clean hand and heard Dr. Sankey’s diminutive voice on the other end. “We got results from Rory’s blood work including the chromosomal microarray analysis and she has a duplication of her 15th chromosome.”

It was one of those dividing moments in time when your world gets split into before and after.  One minute you’re doing something so normal and banal and the next your ears are ringing and you are trying to process something so monumental you feel yourself unraveling around the edges.

Our 3-year-old daughter has what we now know is an interstitial microduplication of chromosome 15q11.2. Quite a mouthful, huh?  Try reading about all of the different variations of this chromosomal anomaly because there are many: duplications vs. deletions, interstitial vs. isodicentric, and each number (e.g 11.2, 13.3, etc.) can mean different symptoms are present.  Rory’s particular microduplication is a very rare version of the very rare “dup15q” chromosome disorder and it means that a tiny part of her 15th chromosome is repeated, so there are two 11.2’s instead of one. A duplication of this chromosome can cause developmental delays including motor planning issues, expressive speech issues, sensory processing disorder, cognitive delays and can even be responsible for things we aren’t dealing with (yet?) like autism, ADHD and seizures.

The glass half full is that we now know what we are dealing with. There is no more “mystery” when it comes to what is causing Rory to be Rory, no more missing component.  She is like a combination lock, with the first click coming when I realized her speech delay was not normal, the second coming with her apraxia diagnosis, the third when I realized sensory processing disorder was responsible for her quirks and behavioral drama, and now with dup15q we have that final, subtle click.  Who knows what we will find when we open it, though… that part is still a mystery.

The glass half empty is that while I am not saying she will not improve with therapy and continued biomedical treatments, there is no cure for dup15q.  It is literally coded into every fiber of her being at the tiniest of levels.  My initial research shows that biomedical treatments like Nemechek Protocol are still helping kids with similar chromosome disorders to what Rory has (like Fragile X, Prader-Willi, Angelman Syndrome), so I won’t give up hope there and we will still continue down the path we’ve been heading down to help her body function at its best.  We will also still continue with speech, occupational and physical therapy, because we recently added that third component into the mix.  And I am working on getting her into a PROMPT speech therapist at least once a week because I really believe that will help her mouth know how to make the sounds she just can’t make right now (PROMPT involves a therapist using their hands to literally shape the mouth).  Apraxia is still very much a part of her struggle, it’s just not the root cause as we suspected, but rather a symptom of her chromosomes.

Some kids with dup15q never talk and never lead an independent life, both of which are completely daunting possibilities.  I always assumed that we would get through these few hard years and then things would get better, but now we are faced with the possibility that it may not ever get better.  And while I certainly hope that’s not the case, and you’d better believe I am going to do everything in my power to make sure she has every opportunity she can possibly have, that tiny “click” in her combination lock has adjusted my expectations for what her future might look like.  I have been searching high and low for the “miracle” that would unlock her speech and now I’m realizing that it’s not likely that we will find a miracle. Or that OUR miracle is going to look like a lot of hard work, frustration and tears, but also love and dancing and snuggles, too.

There have been a lot of tears, some anger and quite a few WHYs, not only these past few days but for the past two very challenging years in our family’s life.  As I was driving today, my favorite poem popped into my mind, and if you knew me in high school, you know how very significant it is to so many of us: The Road Not Taken by Robert Frost.

Two roads diverged in a yellow wood,
And sorry I could not travel both
And be one traveler, long I stood
And looked down one as far as I could
To where it bent in the undergrowth;

Then took the other, as just as fair,
And having perhaps the better claim,
Because it was grassy and wanted wear;
Though as for that the passing there
Had worn them really about the same,

And both that morning equally lay
In leaves no step had trodden black.
Oh, I kept the first for another day!
Yet knowing how way leads on to way,
I doubted if I should ever come back.

I shall be telling this with a sigh
Somewhere ages and ages hence:
Two roads diverged in a wood, and I—
I took the one less traveled by,
And that has made all the difference.

So here we are, watching as our three boys and so many friends go down the traveled road, where things are difficult, sure, but oh, they are so much easier than this other path we are facing with Rory. It is a challenge every moment of every day to watch Rory struggle and not know how to help her.  To know that I might not EVER really be able to help her, that this just might be what our road looks like now.  I have to believe, because I am an optimist at heart and because I HAVE to believe in something, that there is a reason for this and that something beautiful will come from the pain.

To be continued as I learn more about what microduplication 15q11.2 looks like for us…