"Life doesn't have to be perfect to be wonderful"

I met Joe and his father in the waiting room at the rehab clinic for my son’s weekly physio appointment. My son was crawling all around the waiting room (I gave up on germ management a long time ago) and eventually went up to them, flashed his beaming smile, and broke the ice for conversation.

Joe is 14 years old with global developmental delay. He walks, says a handful of words and seems to be a happy teenager. Joe's dad (never got his name) looked tired, drained and worn out. You could say he was having one of those down days that all of us parents of kids with special needs have from time to time. He commented on the unfairness of it all, how most kids grow up, go to school, leave home, get a job, maybe get married and have kids of their own. He's a single dad who works hard to provide for his family and the strain of worrying about the future was written all over his face. Joe's mother split when Joe was a child, she couldn't handle it. Despite all this, Joe's father claims that it takes special people to raise a child with special needs. I don't believe that.

Of the babies born into this world, some have special needs and some do not. They don’t discriminate. To say that only special people are given special babies rubs me the wrong way because it’s not true. Regular, ordinary people are given special babies -some of them might have four degrees, some one, others none, some have jobs and some don’t work at all. In my opinion, having a special needs child comes down to this: sink or swim. I guess in Joe’s case, his mother sank but his father swims on.

If life were that simple then abusers wouldn't be able to procreate, families wouldn't experience the devastation of perinatal and infant loss and people wouldn't have to experience the pains of infertility. It's often easier to feel that we were "chosen" for this role when, really, we know that it's not true, life can simply be unfair without any explanation at all. Sink or swim, it's up to you.

Life sometimes doesn't work out the way we want it to and that's okay, we just need to keep our heads above water to enjoy what's right in front of us. "Life doesn't have to be perfect to be wonderful" - Annette Funicello.

Progress?

We had a physio appointment today with the most cantankerous woman I have ever met. It was our 4th visit and the only reason we keep seeing her is because a)she's free b)she comes to the house and c)the agency doesn't have another available physio. She's really negative and directly implies that the reason my son isn't walking is because I coddle him and let him play with toys on the floor. Like I need a guilt trip on top of everything else! I do a perfectly good job of feeling guilty for everything all on my own thankyouverymuch.

Anyway, she asked how my son was doing and I told her that it feels like he's plateaued and that we hadn't noticed much improvement over the past couple of weeks. She did her exercises with him and, shock of all shocks, proclaimed that he had made huge progress! I couldn't believe my ears, or my eyes for that matter, because my son was initiating stepping! I don't know what surprised me more, my son willingly stepping or the physio saying something positive for once. It was a day of firsts!

He still has a long way to go but if I stabilize one leg, he will step with the opposite one which is so huge for the little guy. Not long ago I couldn't even get him to bear weight on his feet so I'm thrilled with the progress. I've been so engrossed in the widening developmental gap between him and his twin that I didn't even see what was right in front of me. I think it's time for me to take a step back and appreciate all the wonderful things that he can do instead of what he can't.

Hello,

I so don't want to be here.

My son has Creatine Transporter Deficiency. This, in and of itself, isn't a terrible thing. He's a lovely boy, a happy boy, a beautiful boy, a funny boy and someone I would do absolutely anything for.

He was diagnosed with this metabolic disease at 19 months of age but we knew long before any diagnosis that he was not typical. He has a twin sister who is typically developing and it was pretty much impossible not to compare their development and to not notice when key milestones went amiss.

We feel alone in his diagnosis as no one can tell us what his prognosis will be. I've encountered 2 other families with Creatine Transporter Deficiency and have read numerous scientific papers on the subject - none of which seem to be in my son's favour. I'm not in denial about his condition, I just want what is best for my child. Wouldn't any parent want that?

My goal in creating this blog is to connect with other families dealing with a diagnosis of creatine deficiency (GAMT, AGAT and Creatine Transporter Deficiency) and to provide some support to the newly diagnosed who, such as myself, hope to come to a better understanding of what this Creatine Transporter Deficiency business is all about. If you come across anything good, do let me know.

Life is hard enough for the average person and to begin your life with additional challenges makes for a tough road ahead. I am by no means a glass-half-empty kind of girl yet I protect myself by remaining cautiously optimistic of what the future holds. I want to arm myself with as much knowledge as possible to be the best advocate for my son and family.

I know I've already won the lottery just by having the twins here and in the present. Make no mistake in that, I am fortunate and appreciate them each and every day. I just wish I didn't also win the other lottery, you know, the supposedly rare SLC6A8 gene mutation kind of which there are a few hundred diagnosed cases worldwide? Because, really, I had better odds of winning millions with a scratch ticket. Just saying.