Huxley

Almost two years ago to the day, I rushed to the ER with my three-month-old baby not breathing. After a few days stay and multiple tests (including the lumber puncture that showed low glucose but they didn’t connect that to Glut1 at the time) they discharged us saying “babies do weird things”.

Two weeks later it happened again. Huxley had 15 seizures in a row and no matter how many drugs they pumped into him, they didn’t stop. This time we were adamant we weren’t leaving without answers. Thanks to my husband’s research, he suggested genetic testing immediately to rule out Glut1. He had found a medical journal online after extensive reading and the symptoms matched our son. This time we left with a baby on seizure medicine that made him sleep all the time and his sweet smile was gone. We had what we thought was a 4-6 week wait for the results of the genetic testing.

A few days later Huxley had what we now know are “aberrant gaze saccades‘’. His little eyes were darting all over the room and it was terrifying. This time we went to a different hospital and this neurologist rushed the genetic testing. On New Years Eve 2020 at 5pm we got the answers we so desperately needed. Huxley has a missense in the SLC2A1 gene, he has Glucose Transport Disorder. On January 1st we started the medical ketogenic diet. Huxley went from breastfed to bottle fed with keto formula over night. Now, at 2 years old he is thriving. The diet was life changing for him.

The early diagnosis was everything. As a parent, I will always be advocating and raising awareness. That doctor could have diagnosed Huxley on the night of his first seizure.