Extra Extra

Perhaps sometimes my entries all start to sound like odes to Clara, but I can't help it.  That girl is so darned beautiful.  Or maybe it's partly because I know everything is a little more difficult for her.  Some things are a lot more difficult.  The things she does, when she does them, just... amaze me.

One thing that has struck me since becoming a part of the extra chromosome crowd is that these children aren't dumb.  A lot of people, even some parents, believe these children really have some sort of brain damage.  Since being around Clara and other people's children I have actually thought this to be very far from the truth.  I see intelligence in their eyes.  These children think, and they think deeper than we assume.

Right now Clara is trying to reach for toys.  Sometimes she can grab them.  Other times, I see the frustration on her face when she wants to make her arms go forward for that toy, but they don't.  She knows they should, but it can be a difficult struggle.  It's frustrating to me to see her fight so hard.  That's why when she does tackle something, no matter how small, it becomes huge to us.

A couple of weeks ago, Cxdy and I had the fortunate experience of sitting in on a webinar hosted by D.A.D.S.  There were several speakers, and two of them were researchers from the University of Colorado.  They explained where research is today, what we can maybe expect in the future and the link between Alzheimer's and Down syndrome.  I walked away with a bit of a better understanding of what happens when the extra chromosome 21 is created.  In my poor laymen's term, basically, genes stick in places where they don't belong and the communication in the body systems gets blocked and, as I would describe it, fuzzy.  That's pretty simple, but of course, it's much more complex.  But, I'm not a scientist ("Really?!" you ask!). I wish I had the slide that showed these examples.

Then this last week, news comes out that researchers have found a way to suppress duplication of chromosomes.  This is huge.

If the extra chromosome isn't created, then there won't be extra genes sticking in places where they don't belong.  If those extra genes aren't sticking in places they don't belong, Clara can easily have her brain tell her arms to grab that toy instead of trying to get that message through all the muddle that exists there now.

This is very exciting.  I think my little girl is who she is regardless.  If we are able to give her gene therapy one day, it's not going to change who she is.  It's not going to change her beautiful smile.  But it is going to help bring her out of the haze that is trisomy 21.  I welcome that.  I'm pretty sure she welcomes that, too.

It's not going to change the way she looks, or the hole in her heart, because her nasal bone and heart have already missed that development in the womb, but that doesn't matter to me.  She's beautiful regardless, and the hole in her heart can be fixed.  However, for other children in the future, perhaps even the birth defects can be completely avoided.

One day, gene therapy or not, Clara is going to proudly declare that she has an extra chromosome that has helped to make her the unique person she is.

Being a part of this extra chromosome crowd is very exciting.  I once thought I never wanted to be here.  Now, I don't want to leave.