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GAMT deficiency

Living and Learning with GAMT
CCDS Family Stories | GAMT Deficiency | Uncategorized

Living and Learning with GAMT

Byacd_master March 26, 2026March 26, 2026

Living and Learning with GAMT After Jade was born in 1987, our family underwent major changes while working with early…

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Association for Creatine Deficiencies

Embracing the puzzle of rare diseases: reflections on non-profit leadership and service

Byacd_master February 16, 2023January 26, 2024

Embracing the puzzle of rare diseases: reflections on non-profit leadership and service Special Message to CCDS Community from Former ACD…

Read More Embracing the puzzle of rare diseases: reflections on non-profit leadership and serviceContinue

Sam and Louis hugging and smiling at the camera
CCDS Family Stories | GAMT Deficiency

“GAMT Newborn Screening Video” – Heidi

Byacd_master November 29, 2019October 28, 2022

“GAMT Newborn Screening Video” – Heidi I recently had the privilege of sharing my family’s GAMT story with a group…

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Conferences | Events

“A Look into My Experiences at Rare New England” – Celeste

Byacd_master November 21, 2019October 28, 2022

“A Look into My Experiences at Rare New England” – Celeste If you’ve ever wondered how to get involved with…

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Man running in a race.
CCDS Family Stories

“IRONMAN Lake Placid Recap” – Jerry

Byacd_master August 7, 2019October 15, 2025

“IRONMAN Lake Placid Recap” – Jerry My fourth Ironman is in the books. Lake Placid, New York is a beautiful place…

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Association for Creatine Deficiencies

How Pharmacogenomics Hopes to Improve the Treatment of Cerebral Creatine Deficiencies

Byacd_master March 27, 2019March 24, 2023

How Pharmacogenomics Hopes to Improve the Treatment of Cerebral Creatine Deficiencies Kim Tuminello, Director of Advocacy for ACD, recently sat…

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Parents and son in a field with a red tractor behind them.
CCDS Family Stories

“WHO’S GOING TO PROTECT HIM WHEN I’M GONE?” – Nancy

Byacd_master March 5, 2019October 8, 2025

“WHO’S GOING TO PROTECT HIM WHEN I’M GONE?” – Nancy Over-protective. Controlling. Helicopter Mom. Whatever you call it, that’s who…

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Conferences

“GAMT Novel Therapeutics” – Andreas Schulze, MD PhD FRCPC

Byacd_master January 12, 2019October 28, 2022

“GAMT Novel Therapeutics” – Andreas Schulze, MD PhD FRCPC The ACD Conference held in Austin, TX in July 2018 was…

Read More “GAMT Novel Therapeutics” – Andreas Schulze, MD PhD FRCPCContinue

Brother and sister hug in front of the Christmas tree.
CCDS Family Stories | Creatine Transporter Deficiency (CTD)

“Christmastime” – Lacy

Byacd_master December 20, 2018October 15, 2025

“Christmastime” – Lacy I love this time of year! I love snuggling with my kids beside the soft glow of…

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CCDS Family Stories | Creatine Transporter Deficiency (CTD)

“#MyGivingStory” – Chuck

Byacd_master December 17, 2018December 5, 2022

“#MyGivingStory” – Chuck This story was shared with #MyGivingStory in connection with the Giving Tuesday initiative. #MyGivingStory shares the stories…

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