Tag Archives: GAMT

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 […]

The following is our journey into using Medical Marijuana (MMJ) with our son who has CTD, autism, and epilepsy. For those of us in OH, this is a new option in the treatment of seizures and most of us have little to no experience in the medical use of this product. In talking with other […]

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 […]

When I was faced with the CTD diagnosis of my son, who is now 10, I felt a huge, monstrous, feeling of overwhelming and it never went away. None of this is his fault, but the responsibility, the volume of things that needed to be taught, the learning, the management of appointments, the therapy, medication, […]

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 […]

A phrase I hear quite often is, “I don’t know how you do it.” I don’t always know the correct response, so I usually just smile and take it as the compliment I think they intend it to be. I am not sure what they are seeing from their perspective. Are they seeing Jacob throwing […]

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!