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 interest from medical experts around the globe to deserve its own dedicated meeting. Continue reading
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 anywhere for him. Continue reading
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 we were treated to sun and 15 degree weather. A beautiful day. So I took advantage of the day and we went to a place nearby called Lynde Shores. Continue reading
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 will change and his condition will worsen. Continue reading
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 few of the things, because my blessings are honestly far more than I can fit here, nor would you want to read such an exhaustive list. Continue reading
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 you hear that it is a less than one percent chance that your child will have this or that, it would never happen to me right? Continue reading
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. Because the g-tube can physically deteriorate, it is necessary to change it every few months. I do this for her at home. It’s not a great experience for either of us. Despite changing it every few months for the past five years, the idea of it still derails her. Continue reading
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 in the blank, and that is the common underlying tone of the world in which we live. Always rushing and looking ahead. I catch myself doing the same thing. But as a parent of 3 kiddos, and one with special needs, I’ve slowly realized the disservice I am doing when all I do is look ahead. Continue reading
By Judith Miller, PhD, and Rebecca Thomas, MA – The Children’s Hospital of Philadelphia
Creatine Transporter Deficiency (CTD) – work presented at the Society for Developmental and Behavioral Pediatrics conference in Savannah, GA. Continue reading
Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.
