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.