Tag Archives: Creatine Transporter

Standing in front of my kitchen sink in the cold, blue, January dawn, I run the warm water to wipe off my son’s face before he heads off to high school. The washcloth steams visibly in the frigid morning air as I carefully wipe off Benny’s face, getting off any traces of breakfast or sleepy […]

The Association for Creatine Deficiencies (ACD) welcomes Dr. Ton DeGrauw as part of the Scientific Medical Advisory Board (SMAB)! Dr. DeGrauw joins Dr. Longo, Dr. Andrews, Dr, Barshop, Dr. Chan, Dr. Morita, Dr. Salomons, Dr. Schulze, Dr. Skelton, Dr. Stockler, and Dr. Young as advocates for Cerebral Creatine Deficiency Syndromes (CCDS).

Immediately following Caiden’s birth, we knew he was facing many struggles. We had a lot to learn. We had a lot to help him overcome. We had a lot of work. Did I spell that loudly enough? WE HAD A LOT TO LEARN. A LOT OF WORK!

“It’s so Austin…” I heard that sentence a lot the weekend of July 27-29. I inferred it to mean several different things- odd, wacky, unique. The hotel elevator has to use your room key to unlock the button so you can go up a floor, and it had no rhyme or reason if it was […]

We’ve all been there. Those moments when we witness our kids- or grandkids- struggling to accomplish a simple task which others seem to be mastering. Those unique “am I making this up in my head” doubts that consume the mind while you wonder if you’re just being too vigilant (is there even such a thing). […]

I thought it would be beneficial to share a profile of our four, almost five, year old boy with Creatine Transporter Deficiency (CTD) named Ben, who presents without seizures. All our CTD kids are different, so this is by no means a profile of CTD, but rather, a profile of our kid with CTD. I […]

Ben’s recent Creatine Transporter Deficiency (CTD) diagnosis has hit me hard emotionally, so I thought that an honest account of these emotions could be cathartic. I have gone from feeling sorry for myself, to feeling numb, to feeling a bunch of different emotions – some rational and others not so much. Ben was just diagnosed […]

Not having a diagnosis for your child when you know something is wrong is like driving your car somewhere you’ve never been before with no directions. All you know is the general direction, and you keep moving that way, but you’re really not sure you’ll make your destination because you don’t know how to get […]

Greetings friends! Well, it is that time again as I am once more honored to be a part of your daily intake of reading. Although I often share the awesome craziness of our lives and how our three boys with CTD have gone through some tough spells, everything is on the right track now and […]