Conferences

29Nov 2021

By way of background, I am new to the CCDS community. Our 8-year-old son was diagnosed with CTD on 1 April 2021. Yes, April Fools Day, almost appropriate given the various false starts we had on the diagnosis path.

Up until that day in April, plenty of letters had been thrown our way – GDD, SPD, ID, ASD. But for me nothing really explained what was happening to our little man. It is easy to look back with hindsight and see the times we were dismissed by doctors, despite the red flags. We were close several times to maybe heading down the right path, but a doctor didn’t want to see us as a patient (our urine sample was elevated but not out of the realm of normal) or I was told we should just wait and see how he develops (only to also be told the early years are the most important for intervention, sigh). Continue reading

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!
Continue reading

20Jan 2020

This essay was written by Erin Coller with the support of Laura Trutoiu, Director of Research, 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 auract@creatineinfo.org.

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 to say that we can each make a difference. Our individual participation in the research process is vital and necessary to help researchers in the quest to find a cure for CTD. There are researchers around the world working on innovative new ideas for therapies that could really work to help our loved ones. Providing access to patient data is in our hands as parents and caregivers, and it is not an understatement to say that if we don’t do our job, the researchers can’t do their jobs. Continue reading

13Sep 2019

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 attend, the opportunity to take advantage of his staff member, Josh, being present was very productive in the effort to spread awareness of topics that impact the rare disease community. Continue reading

30Jun 2019

The Society for Inherited Metabolic Disorders (SIMD) holds a 3-day meeting every year to discuss and share ideas about metabolic disorders. This year, the meeting included a satellite session on Cerebral Creatine Deficiency Syndromes, hosted by the Association for Creatine Deficiencies. Our ACD team was represented by the irrepressible dynamic duo Heidi Wallis and Laura Trutoiu. Continue reading

24Feb 2019

Watching the videos that are posted from the conference brings back the excitement and all the feels from being at the Symposium, surrounded by a community of families, kiddos, medical professionals, researchers, and pharma companies with one thing in common: a vested interest in Cerebral Creatine Deficiency Syndromes. Continue reading

06Feb 2019

When it was decided to do the first ACD Scientific Symposium and Family Conference in Austin, TX 2018, the idea that so many of us would be all together for the first time, brought on a lot of hopes for a successful conference. The idea that we would have the world’s leading experts in creatine deficiencies, communicating in the same room, and then to be surrounded by CCDS parents and their children that I feel like I’ve known for years, and yet had never met, was incredibly special. We were all excited. This was going to be an amazing opportunity. What could we do with this meeting to really capture it? After all, we thought that we may not have another opportunity like this for years. The answer was clear: A video! Continue reading

12Jan 2019

Dr. Schulze speaking at the symposium

The ACD Conference held in Austin, TX in July 2018 was truly a wonderful experience and opportunity for so many of us in the CCDS community. While we were not able to attend, we were given the opportunity to view the presentation and slides as presented by renowned GAMT expert, Dr. Andreas Schulze. Continue reading

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