Creatine Community Blog

06Jul 2017

Family Photo

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 in January, so many of these emotions are quite raw. I thought perhaps others could relate to this daily struggle that I’m still trying to master – keeping the darkness at bay and clinging to the light. The following are some regular visitors in my daily assortment of emotional lows and highs. Continue reading

29May 2017

Kelly and Toby sticking out his tongue with a lollipop

I’ve made no secret that our family life is somewhat different from the norm. Our home life is different as we live with 2 of our 3 children’s GAMT deficiency and all the disability that comes with it. Everyone knows it has consumed, shaped, and defined Holly & Isaac’s lives and our lives as parents. Continue reading

27May 2017

Sealed pouches and laminating machine

We recently returned from a very fun and needed vacation to Disneyland! It was magical with a 5 and 1 year old. We packed in all that we could and enjoyed every moment of it, but the day after we got home, I still managed hearing the question from Levi asking if we could make a new countdown chain and go back again soon. I will consider that a successful trip! Continue reading

24May 2017

Ben smiling, wearing a preppy sweater

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 there. Continue reading

09May 2017

boys hunting for easter eggs on lawn

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 this post will be a bit different. Continue reading

04May 2017

Benny hugging Beth

It wasn’t until this school year, Benny’s 7th grade year, that we realized he didn’t have the phrase “I love you” on his communication device. Benny is totally nonverbal and relies on assistive technology to communicate. He does have one approximation of “yeah” in his verbal catalog, but other than that, he uses his voice primarily to indicate feelings only— he’ll screech loudly when he’s mad his TV time is over. Continue reading

20Apr 2017

Franco with his dog, Ash

This is our story and our journey that led to our son’s diagnosis of CTD. It has been a long journey to say the least and now this new diagnosis takes us on a new path. Continue reading

04Apr 2017

Levi holding a Valentines balloon

Sometimes it feels like everything just piles up – from the challenges of being diagnosed, seizures, hospital stays, to the complications we encounter every day.   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.