Creatine Community Blog

01Feb 2019

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

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

20Dec 2018

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

17Dec 2018

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

16Nov 2018

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

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

05Nov 2018

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 truly priceless. Continue reading

08Oct 2018

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. You know what we didn’t get a break from? Our CTD world.  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.