Tag Archives: GAMT

This story was shared with #MyGivingStory in connection with the Giving Tuesday initiative. #MyGivingStory shares the stories of everyday heroes giving their time and talents to the charities they love.

This post was written by ACD’s Director of Research, Laura Trutoiu, PhD. Did you know the Association for Creatine Deficiencies has an amazing patient registry? For rare diseases, patient registries are critical to understanding the progression of the disease and the outcomes families can expect. Our patient registry is strong but we need your help […]

I know those who attended the conference in Texas this summer will all agree that is was fabulous. It was so great getting to meet each other in person. We have all connected through our blog stories and Facebook group, but to actually get to meet and let our kids meet and become friends was […]

We just had our first big family vacation. Overall it really was great, we had good strong family moments, Lilah got to chase seagulls, Tyler got to ride in a helicopter, and I got to swim in a tank with dolphins! We had some magnificent food and a good recharge from work and social life. […]

Hello, my name is Chelsi and I have CTD. 23 years have come and gone before I even knew about this condition. If it wasn’t for my son I would have gone my whole life without any knowledge. When I first got diagnosed I was scared. What does this all mean? How are people going […]

Wow! I’m still processing all of the things I learned from the 2018 conference in Austin. The CCDS Symposium was incredible! For me, the information was invaluable and as a result, I feel more equipped going into doctor and therapy appointments. Even more amazing were the connections and networking that happened—as a result of the […]

“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 […]

Since Sonnet wasn’t diagnosed with GAMT until she was seven-years-old, she is severely affected developmentally in every way. We found that with treatment and therapies she gained new skills quickly. Her therapists are a VERY important part of our team.

Summer is the most coveted time of the year around our house… AND IT’S HERE!!! Both boys have birthdays in the summer, the weather is perfect for swimming and being outside all day, shaved ice and late nights playing – it is just great!