Creatine Community Blog

Creatine Decoded: Featured Scientist, Dr. Jonathan Schlebach PhD

This essay was written by Celeste Graham, ACD Director of Education, with the support of Sangeetha Iyer, ACD Scientific Advisor. 

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.

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 Virtual Conference. “It has been a pleasant surprise to learn about all of the exciting, ongoing research in the ACD community!” Schlebach noted. As a new member of the CCDS community, we are thankful that he has been willing to jump right in with presenting some of his lab’s research findings. Read on to learn a little more about Schlebach, his lab, and his research as it relates to CCDS!

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“2020 Global Genes LIVE” – Faith

I recently joined the ACD as the new Programs Coordinator, and as part of my orientation experience, I had the amazing opportunity to participate in the 2020 Global Genes LIVE virtual conference. This event was not only educational but incredibly inspirational. I learned so much and came away from the experience with a greater understanding of why we do what we do at ACD. I would love to share some of my highlights and takeaways with you!
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“Are You a 21st Century Pioneer?” – Nancy

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!

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Creatine Decoded: Behavior Support and the First ACD Webinar for Parents

This essay was written by Celeste Graham, ACD Director of Education with support from Laura Trutoiu, ACD Director of Research and Heidi Wallis, ACD President.

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org.

Education is one of the key parts of our mission here at the ACD. This “Creatine Decoded” blog post gives a brief overview of a topic near and dear to many of us as CCDS parents: what science and psychological theory say about what therapies work for our kiddos related to their behaviors. The ACD recently held a webinar focused on supporting parents in the CCDS community in regards to challenging behaviors.  I’m not sure about you, but we have seen an increase in behaviors the past few months in our house!

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“Success Using Teletherapy” – Randi

Most of the country has been on hold for a few months due to the COVID-19 virus. Even now, with the country reopening, our family is only going to required doctor appointments. Continue reading

“CLOSED.” – Nancy

“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.   Continue reading

“Progress” – Lacy

My son recently said my name for the first time. I don’t mean he called me Mommy. He says that about a hundred times a day, even when he gets a response. He said my actual name. Continue reading

“Pilates” – Beth

When it became clear that I would be caring for my son into his adult life, I knew that I had to make sure my body and mind would be ready for that. I knew I had to be as strong and durable as possible. Continue reading

“Our Journey Into Medical Marijuana for Epilepsy” – Nancy

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 families, I realize that there’s a lot of confusion, stigma, and fear, but also curiosity, surrounding the use of MMJ in the treatment of epilepsy and other conditions, so I thought I would share what I’ve learned thus far on our journey with MMJ. Continue reading