ACD

10Jul 2019

Coriell Biobanking Opportunity

The Association for Creatine Deficiencies (ACD) is proud to partner with The Coriell Institute for Medical Research, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes. Coriell is an independent, non-profit biomedical research center dedicated to the study of the human genome. We need your help as a community to donate cell samples to enable research!

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23Mar 2019

Q&A With Dr. Ton DeGrauw— New Board Member

The Association for Creatine Deficiencies (ACD) welcomes Dr. Ton DeGrauw as part of the Scientific Medical Advisory Board (SMAB)! Dr. DeGrauw joins Dr. Longo, Dr. Andrews, Dr, Barshop, Dr. Chan, Dr. Morita, Dr. Salomons, Dr. Schulze, Dr. Skelton, Dr. Stockler, and Dr. Young as advocates for Cerebral Creatine Deficiency Syndromes (CCDS). Continue reading

17Dec 2018

“#MyGivingStory” – Chuck

This story was shared with #MyGivingStory in connection with the Giving Tuesday initiative. #MyGivingStory shares the stories of everyday heroes giving their time and talents to the charities they love. Continue reading

16Nov 2018

“Patient Champion” – Amy

A couple of weeks ago, we participated in something special – our Ben was a Patient Champion at the Nationwide Children’s Hospital Columbus Marathon and Half Marathon. It was the most amazing experience for all of us, including Ben, and one we’ll not soon forget. It made us feel seen, heard and celebrated. Again, amazing. Continue reading

19Oct 2016

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“Creatine Transporter Deficiency” – Judith Miller, PhD

By Judith Miller, PhD, and Rebecca Thomas, MA  –  The Children’s Hospital of Philadelphia

Creatine Transporter Deficiency (CTD) – work presented at the Society for Developmental and Behavioral Pediatrics conference in Savannah, GA. Continue reading

08May 2016

RUSP Presentation – Heidi

Hi. My name is Heidi Wallis. I am the mother of four children- two with GAMT and two without.

There are a few things I want to be sure you understand about children with GAMT. First is that they do not look different. They are not instantly recognized at birth as having GAMT. I tell you this, because the burden of diagnosing these children should not be on their primary care physician. Also, not every GAMT child develops symptoms Continue reading

08May 2016

Early treatment of GAMT Deficiency is effective and affordable

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Benny was undiagnosed until 5 years of age. He attends a special education classroom where he requires 1:1 care. He battles seizures, Global Developmental Delays, is nonverbal, requires a communication device, and will need life-long care.

Late Diagnosis

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Paige has been treated since birth. She is a 6 year old in the 1st grade, and has never required therapies. She has never needed interventions of any kind and attends a typical classroom. She has never had a seizure.

Newborn Diagnosis

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08May 2016

RUSP Presentation – Kim

Hello, my name is Kim Tuminello and I am a mother of 2 children with GAMT. I’m also the President for the Association for Creatine Deficiencies and I’m here today to represent my family, and our entire Creatine Deficiency Community. I’m hoping that if you didn’t know about this particular genetic disorder in the past, Continue reading