Lee was born at 36 weeks and didn’t thrive like his older sister. He was having febrile convulsions almost from birth. At 3 years old he was diagnosed with autism yet he still had episodes which were unexplained. At 7 he had a natural sleep eeg and was diagnosed as epileptic and put on medication. Still the strange walking and talking episodes persisted. At 15 years old we video recorded him walking and collapsing over and over again. We went back to the neurologist at Evelina Children’s Hospital who stated that looks like Glut11. He had a lumber puncture procedure and genetic testing which proved yes he has Glut1. His doctor says his has a mutation not reported before.
Lee inherited the variant from his father who has the same mutation as Lee.
Lee has a movement disorder and dystonia. We struggle with the diet as he was 15 when diagnosed, but he has made inprovements on Modified Atkins.
Lee is a happy child and a amazing part of our family xxxxxx and I love some1 with Glut1!