Walk for Strength raises funds, awareness to find cure for creatine deficiencies

The walk raised awareness and funds to cure a rare genetic disorder.
The walk raised awareness and funds to cure a rare genetic disorder.(Submitted photo)
Published: Aug. 24, 2021 at 7:01 AM EDT
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CONCORD, N.C. (WBTV) - On Saturday, local families came together at McGee Park in Concord to participate in the international annual Walk for Strength event to raise funds, advocate, and support research for a cure for Cerebral Creatine Deficiency Syndromes (CCDS).

According to a news release, CCDS is a group of three rare inborn errors of metabolism which interrupt the formation or transportation of creatine--Creatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase Deficiency (GAMT), and L-Arginine: Glycine Amidinotransferase Deficiency (AGAT).

Creatine is essential for healthy muscle and brain development. Without it, children’s brains don’t get the creatine they need to develop and function normally.

Event organizers say CCDS cause symptoms including intellectual delays, expressive speech and language delay, autistic-like behavior, hyperactivity, seizures, projectile vomiting in infancy, failure to thrive, and movement disorders.

The quality of life and future for everyone affected by CCDS is dependent upon finding treatments or cures that will work to get creatine into the cells and brains that desperately need it to function properly.

The exact prevalence of CCDS is unknown. Yet, sources estimate that approximately 1% of individuals with intellectual disabilities of unknown origin may have a CCDS. It is estimated that CTD represents the second largest cause of x-linked mental disability behind Fragile X syndrome. Creatine Transporter Deficiency has no treatment. GAMT and AGAT deficiencies have treatments that can be improved especially when children are not diagnosed early.

As parents, the motivation to see treatments for children with CCDS is urgent and unstoppable.

ACD is funding ongoing research in areas including drug repurposing and gene therapy, and the community is very hopeful that viable treatments will be available soon through these research efforts but significant additional funding will be needed to move forward. Organizers say this is a motivated and energized community, who walked in 7 countries and multiple states this past weekend with purpose and passion to find a cure for their loved ones.

Local attendees included (among family and friends):

● The Grahams & the Vandenbergs, 2 families with children with CTD

● Jenny Goldstein, a genetic counselor & ACD ambassador

● Dr. Sarah Young, a member of the ACD’s Scientific Medical Advisory Board/Assistant Professor in the Department of Pediatrics-Medical Genetics (Duke University School of Medicine)/Co-Director of the Duke Biochemical Genetics Lab

● Celeste Graham, a member of the ACD’s Board of Directors HOW: To find out more information on the Walk for Strength or to donate, please visit creatineinfo.org/walk

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