Tag Archives: slc6A8 Deficiency

I thought this post I would write about some of the things I guess us parents all go through, at some point or other. It feels like Ella makes such huge leaps forward every day – new words, new emotions, new actions. We can forget the horrors that we have been through and focus on […]

I broke my arm about two months ago. I’m 41 and I tried to ride a skateboard. It didn’t work out. It seemed like a much better idea in my head. While I counted myself very lucky—no surgery, no cast, no major damage to joints or ligaments—the broken humerus left me in an immobilizer for […]

When they say Paris is magical, it’s true. The ACD was honored to attend the CTD workshop, organized by Dr. Aurore Curie, Dr. Vincent des Portes, and representatives of DeficSience and Xtraordinaire. It’s seldom that a rare disorder can generate enough attention to be included on a conference program, much less, garner the respect and […]

Every time I pack my bags I get this funny feeling. It’s true that I hate leaving them behind, but I can’t not go. I feel this calling and it’s bigger than me. It’s bigger than any of us. I’ve traveled to ten cities and two countries for CTD, but I’m not complaining. I’d go […]

Approximately every month my kids’ school has a P.A. Day.  These are well deserved breaks for the kids and this month allowed me to spend my first with them in years, because I actually had the day off. The day itself couldn’t have been more perfect. It was the middle of November in Canada and […]

I’m grateful for so many little miracles in my life. Every time I watch Max play soccer or hear him bounce the basketball, I am grateful. There was a time, not long ago, that I thought that Max would be very, very different from kids his age. Even today, I have a fear that something […]

Thanksgiving is upon us friends, and let me personally wish each and every reader a Happy Thanksgiving! (Those of you not in the United States, feel free to scarf down some turkey and pie, just for the fun of it!) The post this week will be what I am thankful for, or at least a […]

I would have never guessed in a million years that I would have a child who has CTD. I mean, who has even ever heard of it? I sure hadn’t. Not until the day we finally got in to see a geneticist. I still was skeptical. All these tests they were running, all the time […]

I woke up this morning with anxiety. We needed to change my daughter’s g-tube today. Through the course of treatment for GAMT, it became clear that she needed it for several reasons—medication administration, additional nutrition. She may not always need to use it as she gets older, but it was the best decision for us at the time. […]

Sometimes, as a parent you get sucked into the daily grind of routines and chaos. It’s life with kids. And this life and its fast-paced schedule zooms us ahead, one season quickly following the one before. It will always seem this way. I often hear the phrase, “I can’t believe it’s_______!” Insert whatever seasonal descriptive […]