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April, 2016

ACD Exhibit Booth at ACMG

The 2016 American College of Medical Genetics (ACMG) Conference was held in Tampa, Florida March 9-11. The ACD attended with an exhibit booth to help raise awareness of CCDS. The conference was well attended by geneticists from all over the world as well as other allied health care members. The ACD was privileged to speak to hundreds of attendees visiting their booth including Dr. Piero Rinaldo, from the Mayo Clinic, regarding their development of newborn screening technology, Dr. Sylvia Stockler from BC Children’s Hospital, and Dr. Aleksandra Bruchey with Lumos Pharma, regarding ongoing efforts for therapeutics and medical research on CCDS.

Read more about ACMG

Read more about Mayo Newborn Screening

Read more about Dr. Sylvia Stockler

Read more about Lumos Pharma

Kim Tuminello- ACD President, Whitnie Strauss- ACD Vice President. Not Pictured: Laura Martin- Trustee

Kim Tuminello- ACD President, Whitnie Strauss- ACD Vice President. Not Pictured: Laura Martin- Trustee

First Annual “Walk for Strength”

Join ACD for its first annual “Walk for Strength” June 18, as we walk to raise awareness of Creatine Deficiencies. To learn more about participating or to start a local walk team, click here or contact for more information.

ACD Receives DIA Scholarship

The ACD has been selected to receive a travel scholarship to participate in the Patient Advocate Fellowship Program as part of the 2016 Drug Information Association (DIA) annual meeting in Philadelphia, PA, this June.  
This program is designed to strengthen collaborations with key policy makers, health professionals, and industry representatives and to develop our capacity to advocate for change.

The ACD is honored to receive this scholarship and hopes, in turn, to be able to advocate for the creatine deficiency community with increased knowledge and skill.

Read More about the DIA Annual Conference 

Ask the Experts

Ask your questions and one of our Scientific Medical Advisory Board members will answer you. Click here to submit and look to see if your answer is in one of our next e-news issues!

Q: My son had a genetic test that showed he had a mutation in the SLC6A8 gene. Do I need more tests such as a urine test or Proton MRI to confirm? How accurate is genetic testing using saliva?

A: Biochemical testing (urine creatine/creatinine ratio) is necessary to establish the diagnosis. If brain imaging is obtained for any reason, would also obtain brain MR spectroscopy (the biochemical test is sufficient for diagnosis if MRI does not need to be obtained) -Nicola Longo, MD PhD

Special Interest
The Child Neurology Society 45th Annual Meeting will be held October 26-29, 2016 in Vancouver, British Columbia.
Read More
The Society for Developmental & Behavioral Pediatrics 2016 Conference is being held September 16-19, 2016, in Savannah, Georgia. Read More
The National Society of Genetic Counselors will be held September 28-October 1, 2016 in Seattle, Washington. Read More

Walk Now for Autism Speaks

The ACD was able to exhibit at the Autism Speaks Walk Los Angeles, on April 2, 2016 in Pasadena, at the Rose Bowl.  There were thousands of participants and many stopped by to learn more about Cerebral Creatine Deficiency Syndromes. Many CCDS patients are first diagnosed on the Autism Spectrum.
Now when you shop at, your purchases will support Association For Creatine Deficiencies. 
Enter Association for Creatine Deficiencies as "your charitable organization" and start shopping! 
Support & Follow

Patient Registry

Coming together to Change Lives!
The ACD is working on expanding our Patient Registry to include Patient Survey Questionnaires. The Patient Registry and Survey Questionnaire(s) are essential to understand the history and progression of CCDS, to make it easier for researchers to study, for patients and families to learn more about treatments and for the ACD to speak on behalf of the CCDS community.

We look for your support when announcing the first Survey Questionnaire.
Haven’t registered? 
Click here to register now >


The PatientStrong Grant program is now accepting applications from individuals that are in need of financial assistance. PatientStrong Grant funding is biannual. The deadline to submit an application is May 31, 2016. If assistance is needed to fill out your application, please email

Click here to view eligibilities, dates, and application > 

Creatine Community Blog

The ACD is excited to announce the start of the new CCDS community run blog- Creatine Community Blog. Each week we hope to hear from a different contributor on the day to day life of a Creatine Deficiency family. We hope that sharing in our joys and struggles will build strength in our community and help us all see that we are not alone. We need volunteers that are willing to be regular contributors. A blog post could be as short as a few paragraphs and a single picture and we would like to put each contributor on a regular schedule, such as one post every six weeks. If you would be interested, please contact:

Thanks to Nathan Vandenberg for contributing the first post:

Volunteer Today, Be A Champion For CCDS

Help the ACD by volunteering. Contact See how you can get involved. We can’t do it alone.

This newsletter is only intended as information and the ACD does not suggest or indorse any or all related linked articles in "The Insider e-News". Linked site owners -- not the ACD -- own the intellectual property rights to the material on the linked sites and articles.
Copyright © 2016 Association for Creatine Deficiencies, All rights reserved.

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