“Spiro and I” – Janet

My Creatine Transporter Deficiency journey began September 5th, 2009 with the birth of my son Spiro. Although I didn’t know it at the time, our whole family would be changed dramatically by this event. The birth of any child is life changing. But the birth of a child with special needs and medical requirements, has certainly been something I’ve taken a long time to digest so to speak.
It took 2 years and 4 months from birth for Spiro to receive a diagnosis. Which, for me as a mom, that time was just agonizing. From a very early age, I knew something wasn’t right. And as Spiro grew and got older, things became more difficult. I’m sure, there are other parents reading this who may relate to what I’m saying. I certainly love my son. But those years,  the undiagnosed years were really torture. I watched as all of my friends’ children in the same age group achieved milestone after milestone while Spiro slipped further and further behind. Most people brushed it off, casually suggesting that he was just a little behind, and all kids develop at their own pace. “You probably just have your hands full”, they would say, as they gave a discreet nod towards my 3 children. When Spiro was 11 months, his little brother was born, and his big sister was 2.5 years old. Yes, 3 kids under 3.  It was a lot- who am I kidding? But my Spiro was behind physically, socially, and cognitively, and sadly it had nothing to do with having my hands full.

“Global developmental delay” the pediatrician called it. But this really didn’t explain the “why”???
Eventually Spiro was sent to the leading children’s hospital in our area. It took a lot of work, but we did get our answer: Creatine Transporter Deficiency.

If I can share one main thing to other parents reading this, it would be, don’t let the doctors have the last word. The doctors, will inform you of your child’s diagnosis, like they do to probably one hundred other fear stricken families each year. But, they are giving you the black and white, the words on a piece of paper. There is something to be said about doctors talking about a genetic diagnosis with no cure (yet). They tend to be very text book. At least that was my experience. I hope it wasn’t yours. But your child’s doctor doesn’t know your pride and joy. They don’t know the strides you will take to help your child. They will never know the time you’ve spent researching ways to teach him. Words on a piece of paper do not define your child. Your child who you carried and birthed. Who you have nurtured and taught. My son is the joy of my life. He did not get an easy hand. But as his mom, I’m going to do every single thing I can to help him to learn in this life. And to help him to enjoy the life he leads.

Don’t ever give up on your child when you learn of a life changing diagnosis. It will probably take some time to pick up the pieces and really get going again. But if I can say one thing, it’s to not put limits on your child. Let him show you what will be his full potential.

Today, we have an active, chit-chatty, funny,  loving boy. A sweet boy, who also comes with a side order of screaming, hitting and non-compliance. Spiro, who we were once told would likely not talk, is now making ‘jokes’, making people laugh, and never hesitating to tell you if something is  ‘inappropriate’ (his favorite saying, lol!!). I know that he isn’t developing at an age appropriate level, but I’m more okay about that now than I was 5 years ago.