Creatine Community Blog

20Jan 2021

We are very fortunate in our state to have scholarships for children who qualify for an IEP but don’t attend public schools. This helps with funds for a visiting Intervention Specialist (special ed teacher) as well as home-based therapies. Sonnet’s health crisis has resolved greatly since she was diagnosed and began treatment for GAMT. However, her neurologist and I vividly remember when she was dealing with fifty-plus seizures a day. It isn’t certain if a serious illness could cause another downward spiral, so our family has chosen to largely quarantine during flu season. This was extended and amplified during the pandemic. Continue reading

31Dec 2020

This essay was written by Laura Trutoiu, ACD Director of Research, with support from Erin Coller, ACD Director of Communications, and 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 [email protected]

When we got Rohan’s Creatine Transporter Deficiency (CTD) genetic diagnosis mid-2017 he was two and a half and had barely started to walk. Though sweet and loving, Rohan wasn’t using words and wasn’t quite doing what other two year olds do. It was a long road to a diagnosis and finding the genetic cause was a blow and a sigh of relief. I got the call at work and jumped out of an ordinary meeting into a brave new world full of genes and mutations.
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09Dec 2020

It’s 3 AM and I can’t sleep. Again.

I came across videos yesterday of Sam completing tasks for the learning program we were doing for a while (Relationship Development Intervention-RDI), and I was reminded, once again, how little we really engage with him now, how few activities he engages in. It bothers me. Continue reading

28Oct 2020

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 [email protected].

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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07Oct 2020

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 the ACD. I would love to share some of my highlights and takeaways with you!
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02Sep 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!

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11Aug 2020

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 [email protected]

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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15Jun 2020

“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

 

Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.