Dear friends and families,

This year we learned that Meg and Daniel have had a rare genetic disorder since birth – Creatine Transporter Deficiency. This provides some answers as to why Daniel was non-verbal and why his seizures were not controlled. Also, why Meg has difficulty with auditory processing, and her seizures are not currently controlled by medications. We have learned that it affects a gene on the X-chromosome, which may be why it affected Daniel more.

We have connected with the Association for Creatine Deficiency to learn more and to connect with families. We are encouraged to hear that a lot of research is underway, which is not always the case with rare disorders. ACD has been leading the way in the fight against creatine deficiencies through research and encouraging funding for early genetic testing, which can make a huge difference for families.

In fact, since 2012, ACD has led the fight against creatine deficiencies. With 100% of Holiday Heroes donations being directed to research, your participation in this campaign is crucial in helping ACD continue that fight.

As we continue to support these efforts, we are reminded of Meg’s high school senior quote from JFK: “One person can make a difference, and everyone should try.” So we’re going to keep trying.

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 bodies 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 its inception, with over $5.1 million 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 for 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) who decided a rare disease needs a unified community to effect change for the future. The ACD Board consists of unpaid CCDS parent professionals committed to this cause.

Team Meg and Daniel - Holiday Heroes 2026