ACD Videos

24Feb 2019

Watching the videos that are posted from the conference brings back the excitement and all the feels from being at the Symposium, surrounded by a community of families, kiddos, medical professionals, researchers, and pharma companies with one thing in common: a vested interest in Cerebral Creatine Deficiency Syndromes. Continue reading

06Feb 2019

When it was decided to do the first ACD Scientific Symposium and Family Conference in Austin, TX 2018, the idea that so many of us would be all together for the first time, brought on a lot of hopes for a successful conference. The idea that we would have the world’s leading experts in creatine deficiencies, communicating in the same room, and then to be surrounded by CCDS parents and their children that I feel like I’ve known for years, and yet had never met, was incredibly special. We were all excited. This was going to be an amazing opportunity. What could we do with this meeting to really capture it? After all, we thought that we may not have another opportunity like this for years. The answer was clear: A video! Continue reading

12Jan 2019

Dr. Schulze speaking at the symposium

The ACD Conference held in Austin, TX in July 2018 was truly a wonderful experience and opportunity for so many of us in the CCDS community. While we were not able to attend, we were given the opportunity to view the presentation and slides as presented by renowned GAMT expert, Dr. Andreas Schulze. Continue reading

22Dec 2018

Dr Morita speaking at the symposium

Our son Dylan, who is 5 and was diagnosed with CTD earlier this year, was originally diagnosed with epilepsy at the age of 2. At that time Dylan had a series of seizures including multiple tonic-clonic seizures and 1 absence (that we are aware of). Dylan had 2 sleep EEG’s, the second EEG showed an abnormal EEG and he was put on Epilim Chrono sodium valproate. Continue reading

13Nov 2018

Sarah Young

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. Continue reading

11Sep 2018

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 another rare sort of encounter: a hotel packed with researchers, creatine experts, and CCDS families. We had high expectations, were a little nervous, and some of us way too excited for having seen airplanes (aka Ehy-paynes) up close. Little did we know how our expectations would be blown away and how this symposium would become the beacon of hope we’d been searching for in the past year. Continue reading