Creatine Community Blog

23Feb 2017

Young Levi on a scoot along toy

GAMT is so rare, just getting diagnosed seems to be quite an ordeal. I like hearing everyone else’s journey, and having this connection. Here is our story!
Before Levi was born, I had a nervous feeling; anxiety that something was “off” but at each ultrasound things looked great and he was born a healthy baby in June of 2011. Continue reading

14Feb 2017

Nathan and his family sitting on a couch

Well, it’s here friends, February 14th , and according to the automatic reminder on my phone, that means it is time to stop at the store and give Hallmark their due for the year.  Now I am not saying that I am not romantic, but I am a guy, so romantic is a relative term.  So, what does cupid, romance, and Hallmark have to do with a life full of craziness and creatinies?  Well, as it turns out, not as much as one would hope but more than I could have ever imagined.  Hopefully this makes sense to those of you adventurous enough to follow along with my regular postings.  Basically, I would like to take a few minutes to talk about the relationship that I have with my Valentine of almost sixteen years, and how that relationship was not just shaped, but defined, by an alteration of one tiny little piece of genetic material. Continue reading

07Feb 2017

James and Charlotte as babies

My little guy is now 8 years old and was diagnosed with Creatine Transporter Deficiency (CTD) at 19 months of age – well before we were emotionally prepared to deal with the implications of such a diagnosis.  “Will he need extra help in math class or will he not be in a math class?” was a question my pragmatic engineer husband asked the metabolic geneticist who delivered the news.  James has changed us in so many ways. Continue reading