ACD

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

14Sep 2018

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 to react? Am I going to be treated differently? Life wasn’t always easy for me growing up. Making friends was a struggle. Communicating appropriately with someone was definitely a no go for me. 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

31Aug 2018

Levi smiling

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 ACD bringing scientists, doctors, pharma companies, therapists, and families together. Continue reading

20Aug 2018

Good day friends! For this blog, I thought I would write about something I have been asked about several times, the feeding tube. It goes by many names, ranging from G-tube to Peg or Mic-key, but they all do pretty much the same thing, and in my opinion, that thing is to provide an amazing way to deliver nourishment to my boys. Now before I go further, I have to give the request warning that I am in no way, shape, or form a medical professional. I do not intend for this blog to convey medical advice or a course of treatment. Rather, I would like to tell everyone how we wound up being a “tubie” family, what benefits and challenges we have faced, and finally, I will add a little advice that I think would be helpful for everyone to know. Continue reading

06Aug 2018

“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 going to go up or down… It’s so Austin! The doughnut shop around the corner, Voodoo Doughnuts (brought to all of our attention by Mac Cafferty), where you can buy a cereal topped doughnut or one shaped like a voodoo doll… It’s so Austin! The local zoo that only houses rescue animals and its very offbeat and rustic landscape… It’s so Austin! So it seemed fitting that our odd, wacky, and unique CCDS Family was all congregated together in this town known for the odd, wacky, and unique. This is how our “family reunion” of sorts went down for the Alveys. Continue reading