Archive for the ‘Fragile X’ Category
So as we all know I’m pretty terrible at actually updating this blog. Which naturally in Nikki logic means that I should create a second blog that I can ignore and not update, right? One of the reasons that I’m so bad at actually updating though is that the thing that is frequently at the top of my mind is Elijah and his progress and information about his diagnosis. Rather than completely overrun this blog with that information I’ve decided to create a dedicated blog just to that so I can leave this one free for the more trivial stuff that is a bit easier for the average reader.
As many of you probably know, I have major issues with people who constantly post downer status messages about their problems on Facebook and while frequently what I want to talk about is a celebration, the overall topic itself is still a bit depressing. So for those of you who are interested you can follow the other blog (http://fragileperfection.wordpress.com/) and for those of you who aren’t I can promise that this one will go back to being the much more lighthearted blog that it used to be. It will also still probably be updated extremely sporadically….because let’s face it, that’s how I roll.
“Life isn’t a matter of milestones, but of moments” -Rose Kennedy
Every parent celebrates those major milestones when their child takes their first steps, babbles their first words, eats their first mushy bite of oatmeal. I’ve not yet found a satisfactory description of the feeling of pride and joy that fills your heart when you see that miniature person grasp an activity or concept that is something you probably take for granted every other minute of the day. As a parent of a child with fragile x I find that not only do I celebrate the big deal milestones, but that frequently things I’ve never even considered milestones or even really thought of at all take on tremendous importance. Things like communicating a desire or request, the basic building block of communication, become just as big of a deal as walking when they’re things that your child has to work so hard to grasp.
It’s shortly after Elijah’s second birthday and communication is a hurdle we are still figuring our way around. He’s just recently begun to request things like being picked up (by standing in front of us with his arms raised in that classic childhood pose which is so amazingly cute that you can’t help but feel your heart melt) and he’s also started bringing me his favorite story so I can read it to him. It’s so amazing to have him doing these that even by the seventh time through Brown Bear Brown Bear I’m still happy to be reading it to him and read it with the exact same amount of enthusiasm as the first time through.
He’s also started babbling with a few more sounds these past few weeks. I’m trying not to read too much into it as he’s done this in the past and then regressed for months at a time, but there’s always the hope that maybe this time he’ll continue to make gains in communication. I suppose the overall theme of our days is that there is always hope, but in the meantime, rather than focusing on the milestone, we’re enjoying the moments 🙂
Many of us grew up hearing the nursery rhyme that began with “Monday’s child is fair of face.” Something that has always bothered me, even before I had a child born on Wednesday, is the “Wednesday’s child is full of woe” line. I actually recently read a bit of history about the rhyme that mentioned that originally it was Friday’s child that was woeful and Wednesday’s child that was loving and giving. Guess that goes to show that it doesn’t matter what day of the week you’re born on and that it’s all superstitious nonsense. Yet, somehow it’s that nonsense that seems to stick in my mind any time I hear bad news about Elijah.
A bit of background for those of you who still aren’t aware of this story, back in October Elijah was diagnosed with a genetic disorder called Fragile X Syndrome. Before the geneticist mentioned testing for it, I had never heard of it. I won’t go into all the details on my reaction right now, I actually have a solid four months worth of blog posts surrounding that issue saved in OneNote, I just wasn’t ready to begin talking about it before now, so I’m sure they will eventually make their way on to here in some shape or form. But for now it’s enough to know that Fragile X isn’t a physically debilitating disorder, it doesn’t typically cause any major health problems (with a few exceptions, but those aren’t that prevalent) and it is definitely not the worst thing out there. That being said, it does cause some major intellectual disabilities, particularly in males, and has a high association with autism.
Elijah is definitely showing the developmental delays one would expect for someone with his diagnosis, although so far they have ruled out the autism spectrum disorders, for which we continue to be grateful. Actually, in this way he’s much more of the “loving and giving” type than “full of woe.” He’s actually one of the happiest kids I’ve ever had the pleasure to meet and he’s so loving that he needs at least 30 minutes of hugging, kissing and cuddling when I get home from work or pick him up from school. It’s adorable how attached he is to both of his parents and immensely reassuring. Every time I walk in the door and see the huge smile he has for me with his arms open for a hug my heart sings and I know that despite all the other worries, this, at least, is right.