Tag Archives: AGAT

Dr. Jonathan Schlebach, PhD (Indiana University-Bloomington) participated in the ACD’s 2020 Virtual Conference and gave an informative talk on the “Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter”. ACD Director of Research, Laura Trutoiu, noticed a recent informative publication from Schlebach’s lab and invited him to attend the 2020 […]

Pioneer. Verb. A person who is among the first to develop or be the first to use or apply (a new method, area of knowledge, or activity). Parent or grandparent of an individual with special needs, do you feel like a pioneer? Well, you are!

“School closed,” says Sam for the 14th time today. I take a deep breath. If I don’t answer him, he’ll just keep going.  

Pictured: Dr. Sonja Sucic from the Medical University of Vienna presenting on pharmacochaperoning at the Creatine Deficiency Workshop in Rotterdam in September 2019 Being a CCDS/CTD mom, I understand that it can be very easy to put a huge amount of hope in the idea of prospective treatments. The exciting news is that it’s not just a cliché […]

The Association for Creatine Deficiencies (ACD) recently interviewed Christina, a 17-year-old senior in high school, who was diagnosed with L-Arginine: Glycine Amidinotransferase (AGAT) deficiency as an infant to share her story in regards to her diagnosis, why advocacy is important to her, what her hopes are for the future, and more, in honor of Newborn […]

I had the recent pleasure of attending an event hosted by the Oklahoma Rare Action Network (RAN) Ambassadors, Tamra and Jade. Together with representatives from the National Organization for Rare Disorders (NORD), Michelle and Rose, they offered an opportunity to engage with staff from Congressman Markwayne Mullins office. Though the Congressman himself was unable to […]

My fourth Ironman is in the books. Lake Placid, New York is a beautiful place and the trip was amazing. Beth and I chose this location because not only could I participate in the Ironman event, but we were celebrating our 20th wedding anniversary and the venue did not disappoint! We won’t soon forget our time […]

Hello again, friends! I know it has been a while since I have updated everyone on what’s going on in our daily lives. Well, I will be the first to say, things have been a bit hectic this summer, but the craziness is welcome and we love the way that our lives are evolving!

When your child is different, there are a lot of worries. We worry about their health; their education; and their safety. But we also worry whether they’ll have something that most of us take for granted. A friend. A real, honest-to-goodness friend. Someone they can relate to, who likes to be in their company, and […]