Moving on up?

What a difference a year makes. Almost exactly one year ago, at 19 months of age, my son was given a diagnosis of Creatine Transporter Deficiency (actually,Creatine Transporter Defect though I don't like thinking of him as defective). From 18 to 19 months, he was (mis)diagnosed with Cerebral Palsy and we were told that he had many red flags for ASD. So, yeah, you can imagine how lovely it was to receive a diagnosis of Creatine Transporter Deficiency on top of everything else; something that we, and no one in the community, knew anything about.

I can't say that we're okay with the diagnosis, we never will be, but we're much closer to being at peace with it. Our train derailed but we're back on track, truthfully there's nowhere to go but forward so what's the point in being stuck in time? Having a case of the perpetual bitter-boots does not good company make, even for one's self.

So, what difference does a year make? A lot if you factor in therapy! (Not that kind of therapy though I likely need some with a side of barbiturates perhaps.) I'm talking speech therapy, occupational therapy, physiotherapy, and developmental therapy. In my mind I thought the various therapies would be short lived but, with the exception of physio, that won't be the case as the therapies will need to be ongoing. I'm understanding more and more that it will take my son a lot longer to learn adaptive skills (if ever) and that he'll need supports to teach him how.

In March 2010 my son had just started clapping his hands, pulling off his socks and making consonant sounds. He could pull to stand and cruise furniture a little bit and had mastered the four-point crawl. I don't think he understood much of what we said to him, in fact I don't think he understood anything at all.

Now, in March of 2011, he walks, almost runs, is determined to climb the stairs on his feet, waves bye-bye, points with his hand, responds to his name (7/10 which I think is on par with his typically developing sibling) and, best of all, understands a lot of what we say to him (basic speech). He can understand simple one-step directions of daily routines which is so awesome because now he can get his own jacket or shoes so, really, he's lightening my load. Attaboy! Maybe one day soon I'll be able to finish a cup of coffee in one go. Clearly he has developmental delays and always will but he is progressing, albeit slowly, which gives me comfort nonetheless.

Why so reflective? Well, we're approaching a battery of annual tests (MRI/MRS, developmental ped for neuropsych, developmental neuro, geneticist, speech/language assessment, kidney GFR, VEEG) and I want to remind myself (and you if you're in the same boat) that it doesn't really matter what the tests say. What matters is that my kid is happy, loved and leads a full life. That we continue to strive towards the next milestone, that we accept that he's doing things on his own timeline and that we take time out to just love him, for him.

I'm not being complacent but I don't want to put all hope in his treatment and tests - what happens when I'm told there is no creatine uptake in his brain? And will it really matter? I suppose it would if I was hoping, by some miracle, that he'd be "cured" but I know that he can't be cured and I'm actually ok with that. It's so easy to get bogged down with the science of it all. I will always advocate for him and for more research but I just want to take a break from the "what if" and enjoy the here & now.