Creatine Community Blog

September is National Newborn Screening Awareness Month, and on that note, we would like to share with you the 2018 CCDS Symposium presentation “Qualifying Newborn Screening.” Continue reading

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

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

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

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

“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

Since Sonnet wasn’t diagnosed with GAMT until she was seven-years-old, she is severely affected developmentally in every way. We found that with treatment and therapies she gained new skills quickly. Her therapists are a VERY important part of our team. Continue reading

As a mom of a child with a rare condition, particularly of my Ben who has Creatine Transporter Deficiency (CTD), it’s so easy to let your mind wander into topics that make you really sad or scared. That’s been happening to me recently. Continue reading

I feel like all us parents of special need kiddos have that one person who is our main go-to.  Who we all wonder why the heck they choose to be involved in our lives but are so extremely happy they stay.  This post is going to be a little different because I’m pretty much just going to shout out to our friend.  But I feel like you guys will relate because I know you guys have this Friend in your life too… Continue reading