Dear Friends & Family,

This year has been full of milestones, trials, and wins for Sam. She finished her public schooling and began a post-secondary school with other adults with intellectual disabilities that will keep her socially and cognitively engaged.

Seizures are her biggest struggle-threatening her safety and causing all around anxiety in our house. We believe her seizures could be reduced or eliminated with a better treatment to reduce the neurotoxic GAA that builds up with GAMT and we're excited to have two promising research projects aimed at doing this!

You can support Sam by donating today and helping our family reach our $5000 goal!

AN AVALANCHE OF HOPE FOR KIDS WITH CCDS

WHY THIS MATTERS

Creatine isn't just for athletes – it's essential for brain development. Children with creatine deficiencies have a genetic deficit that prevents their body from making or using creatine causing developmental delays, speech difficulties, and seizures.

Holiday Heroes serves as ACD’s most important fundraising event.

100 % OF DONATIONS MADE DURING HOLIDAY HEROES GO DIRECTLY TO RESEARCH

ACD has invested over $7.6 million in research since it's inception in 2012 with over $5.1 invested in 2026 alone! Current research initiatives include:

UC Berkeley - 1-year research award to accelerate the development of a novel method to deliver a key enzyme directly into cells to enable creatine production in individuals with GAMT deficiency.
Johns Hopkins University - 2-year research investment to accelerate their work to deliver creatine to the brain, including to neurons, using dendrimer nanoparticles, without the need of a creatine transporter, to help patients with CTD.
Stanford University - 2-year research award to build upon their work developing new ways to deliver creatine directly into cells without relying on the faulty transporter protein that causes CTD.
Ultragenyx - Investment in the clinical development of a therapy for Creatine Transporter Deficiency (CTD) with a total commitment of $4 million as the program progresses.

OUR VISION FOR THE FUTURE

Since 2012, ACD has led the fight against creatine deficiencies. We've already added GAMT to U.S. federal screening guidelines and are seeing adoption grow worldwide. With CTD, we're working toward the same milestone - and ultimately, a cure. Our vision is that one day all creatine deficiencies will be identified and treated within seven days of birth and those already living with CCDS will receive treatments to achieve their maximum potential.

💙🧡 Join us. Be part of the breakthrough. Donate today.💙🧡

The Association for Creatine Deficiencies (ACD) was established in 2012, by parents of children diagnosed with Cerebral Creatine Deficiency Syndrome (CCDS) that decided a rare disease needs a unified community to affect change for the future. The ACD Board consists of unpaid CCDS parent professionals committed to this cause.

Team Sam & Louis

Holiday Heroes 2026