Tag Archives: ACD

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 to take it to the next level and include genetic data.

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 […]

On a balmy night in late July we flew into Austin for the first Cerebral Creatine Deficiencies Syndrome (CCDS) Scientific + Patient Symposium. It was the kind of midsummer night when everything is possible and magic is in the air. Except that instead of magic we had science and instead of mythical creatures we had […]

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 […]

Hey everyone! I hope the new year is off to a great start! Levi has been in first grade this year, and absolutely LOVES school!  I am so glad for that, although I always wonder and worry how he is doing academically, socially, and behaviorally.  He has an amazing teacher that has not let him […]

During the winter break, we undertook the daunting task of organizing digital photos from the past fifteen years. We take a lot of pictures, so we had over 17,000 images to move and file. As we cataloged the pictures, we reminisced about our first house, our childless days, our travels, our first pregnancy. Seeing those […]

As we approach the holiday season, it is customary to reflect and give thanks for the blessings we have. It’s also the season of giving and a time of year when many open their hearts and wallets to share in their blessings and give back to many meaningful charities.