Sam's Story

Images captured Susan Carmondy Photography

Tiny Light Sam is one determined little guy. He has to work hard for everything because he has delayed motor development, but he is motivated and full of joy. At nearly three years of age, this smiling toddler is full of kisses and waves. His amazing spirit shines through.

Parents Amanda and John knew their youngest son was not reaching his milestones, but they never imagined he would be diagnosed with a neurological disorder. Until recently, doctors were not sure what Sam had, but now it has been determined to be Glut1 deficiency syndrome. This is an extremely rare genetic condition that impairs brain metabolism, potentially causing a wide range of symptoms including development delays, speech difficulties and muscle twitches.

Sam is on a special ketogenic diet that is used to treat Glut1 patients and it is working well. He has been free of seizures and is now completely off anticonvulsant medication.  While he isn’t talking yet, he is getting more mobile as he learns to creep along furniture.

The future for this Tiny Light is uncertain, but his family has learned to live in the moment. Big brother Charlie is Sam’s biggest champion, and the boys love spending time together. “Sam has helped us to slow down. He takes his time to reach each milestone and we celebrate all of his gains.”

Written by Elaine Yong