Sunday, May 15, 2016

Step-step, Emelyn

I've been long overdue with this post. Last month, Emelyn finally (after five months of waiting) has a gait trainer!
Emelyn cruising in her gait trainer out in the cul de sac.
Prior to the arrival of Emelyn's gait trainer, we had a borrowed gait trainer for a month or so thanks for CATS (Children’s Assistive Technology Service), but it’s not the one Emelyn really needed. The borrowed on was a little too restrictive and didn’t quite have the right hand/arm supports. But her new one, as Goldilocks would say, “Is just right.” And it couldn’t have come soon enough, because Emelyn is ready to go...well as long as there’s water at the end of the journey. So, I’ll stop typing now and give the people what they want…Emelyn cruising.
That giggle at the beginning…it’s just too much!
And those little legs in that bathing suit. Step-step, Emelyn.
So, what is a gait trainer? As you can see from the photos, it’s a wheeled device. It’s intended for individuals (children or adults) with physical disabilities, to provide the opportunity to improve walking ability. This allows Emelyn to be more independent as she practices walking. Used properly, it will help her learn to walk the right way.
As many of you know, I’m not determined that Emelyn walk independently. I’m much more determined that she have the right tools to communicate with us efficiently. However, I would love to see Emelyn be able to use her gait trainer to walk into school next school year. It doesn’t have to be the first day, but maybe by this time next year. I won’t be crushed if it doesn’t happen, but I like working towards a goal. I wonder if Emelyn feels the same way…

Tuesday, May 3, 2016

What’s in a name?

A question was asked on our Chicago trip, “Will our daughters’ genetic mutation get a name?” It’s a question I’ve wondered myself. DDX3X doesn’t exactly roll off the tongue. In fact, most people just know that Emelyn has a rare genetic disorder, and if they have a good memory they remember it’s on her X-chromosome and therefore only affects girls. There are very few who can spout off those four letters with that strange number somewhere in there. If you’re one of those people, don’t feel bad. I totally get it. And, to be honest, it’s more important to us that you know Emelyn, not her diagnosis. While DDX3X is certainly part of her, it does not define her.

The adorable Emelyn at around 18 months old. It would be several more months before the DDX3X mutation would be identified as a true diagnosis and another year before we would receive the diagnosis for Emelyn. 
So, back to the question, will Emelyn’s diagnosis get another name…maybe one you can actually remember? The chances are, no. And here’s the reasoning. Through modern technology, new genetic disorders are being discovered every year. And each of them can’t get its own name.
Names can be descriptive, such as polycystic renal disease or cystic fibrosis. Or names can come from the person who discovered it, such as Down Syndrome discovered by Dr. John Langdon Down in 1866. And sometimes, names can come from a person who had the disease, such as Lou Gehrig’s disease in the case of amyotrophic lateral sclerosis (ALS) or Christmas disease named after Stephen Christmas, a boy first observed with the disease.
Usefulness is the key factor when naming a disease, therefore DDX3X is likely the name that is the most useful. It tells you exactly what gene is affected. That’s not to say that DDX3X will always be the name, but for now, it doesn’t appear to be going anywhere.