Creatine Community Blog

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

Super Bowl Sunday marks two years since we officially received Cadman’s diagnosis. It was so strange answering an unexpected phone call from the neurologist while watching the Super Bowl, and immediately concerning. Just a couple of weeks prior, we also found out that I was pregnant with our second child, Emma, who is now 16 months old and the most delightful addition to our family. My husband Dan and I had been seeking answers for some unexplained concerning issues going on with Cadman for almost a year, and finally, the answer was found through the Whole Exome genetic test which the neurologist reluctantly ordered. The test results came in that Sunday a few months after Dan, Cadman and I did the blood work at Rady Children’s Hospital in San Diego, and the neurologist wasted no time in reaching out to inform us of the very unexpected results. It was an expensive test and one that apparently doctors don’t usually order until lots and lots of other tests have been completed and provided no answers. Continue reading

Every kid dreams of growing up to be a superhero. I can remember running through the house pretending to be everyone from the Incredible Hulk to Superman, and who didn’t dream of shooting webs like Spiderman? Well, fast-forward a good number of years and unfortunately, I am still not a superhero. I don’t think any child ever has a single moment in which they realize that they probably won’t grow up to be a superhero, rather it is a slow transition from what could be to what really is. Right now, you are probably hoping that I have some kind of point I am trying to make with all of this, and I promise I do, just bear with me. Continue reading

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

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

I love this time of year! I love snuggling with my kids beside the soft glow of the Christmas tree and pretty decorations as they fall asleep. This is a magical time of year to see their faces light up as we drive through town or when they see there is a present under the tree with their name on it. The Christmas season is a great time to reflect on everything that has happened throughout the year. We have had some great times as a family. Continue reading

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. Continue reading

A couple of weeks ago, we participated in something special – our Ben was a Patient Champion at the Nationwide Children’s Hospital Columbus Marathon and Half Marathon. It was the most amazing experience for all of us, including Ben, and one we’ll not soon forget. It made us feel seen, heard and celebrated. Again, amazing. Continue reading

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