Eleanor
Eleanor is a spunky 2 and a half year old. She was born at 32 weeks at 4 pounds 4 ounces and had a month-long NICU stay. At 6 weeks old, she began showing symptoms (spasms and two unresponsive episodes). She had her first lumbar puncture at this time with low glucose shortly followed by two more LPs that confirmed those results. After genetic testing at 3 months old coming back negative for the SLC2A1 gene mutation, we were given good news that she didn’t have Glut1.
Eleanor began having more seizure-like episodes at 4 months old and was diagnosed with acid reflux instead by her pediatrician. We later found out that all of those episodes were in fact seizures.
At 18 months old, Eleanor still wasn’t walking and began having rapid eye movements so, with Glut1DS still in the back of our heads, we requested further testing. After several MRIs, CTs, EEGs, and an additional LP and PET scan, it was determined that she has Glut1DS without the genetic component. She began walking at 19 months old.
In August 2021, Eleanor was put on a ketogenic diet. With the help of speech and occupational therapy, her coordination has improved tremendously and she’s now talking more with 2-3 word phrases! She’s part of the Rare Genomes Project through the Broad Institute of MIT and Harvard with the hope of helping other kids just like her with rare or genetically undiagnosed conditions.
Eleanor began having more seizure-like episodes at 4 months old and was diagnosed with acid reflux instead by her pediatrician. We later found out that all of those episodes were in fact seizures.
At 18 months old, Eleanor still wasn’t walking and began having rapid eye movements so, with Glut1DS still in the back of our heads, we requested further testing. After several MRIs, CTs, EEGs, and an additional LP and PET scan, it was determined that she has Glut1DS without the genetic component. She began walking at 19 months old.
In August 2021, Eleanor was put on a ketogenic diet. With the help of speech and occupational therapy, her coordination has improved tremendously and she’s now talking more with 2-3 word phrases! She’s part of the Rare Genomes Project through the Broad Institute of MIT and Harvard with the hope of helping other kids just like her with rare or genetically undiagnosed conditions.
