“Macie’s story is an inspiring example of how early detection and intervention can change a child’s life and shape their future. 

“Macie was diagnosed with GAMT, a creatine deficiency disorder, just over 2 years ago (right before her 4th birthday). We will never forget how relieved we were to finally have a diagnosis, and some answers to Macie’s global developmental delays. We had been searching for help and hope for what felt like forever. At the time of diagnosis Macie was a generally happy child, but severely lacked milestone development (she did not know how to play, she could not feed herself, did not know how to run/jump/climb stairs- even step off of a curb, and she was completely non-verbal). Along with many developmental and fine/gross motor delays she was also suffering from silent seizures.

Since starting Creatine and Ornithine supplements 2 years ago we have seen so much improvement! Macie’s favorite things are playing outside, listening and dancing to music, eating, and animals. Her personality is bright and vibrant, and we love hearing her 2-3 word phrases developing into short sentences. Macie absolutely loves school (especially riding the school bus), dance class, and traveling. She is a fantastic helper, too!

We are so thankful for everyone who donates their hard-earned money to ACD! The research that is supported by ACD means so much to our family and provides HOPE to our creatine deficiency community. We know Macie will have a bright future as a result of the efforts of ACD and all of its supporters. Our family is thrilled to see what’s on the horizon!”