Glut1 Deficiency Foundation
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Eleanor

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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.
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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.​

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Glut1 Deficiency Foundation
PO Box 737 
Owingsville, KY 40360    
​info@G1DFoundation.org
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Copyright © 2021 Glut1 Deficiency Foundation
  • Home
  • About Glut1 Deficiency
    • What is Glut1 Deficiency?
    • Key Terms in Glut1 Deficiency
    • About the Ketogenic Diet
    • Newly Diagnosed
    • Research >
      • Research Compass
      • Research News
    • Patient Registry
    • Resources >
      • Resource List
      • Videos
      • The Patient Voice
      • Cognition and Learning
      • Family Recommended Specialists
      • COVID-19
      • Patient Stories >
        • Family Stories >
          • Share Your Story
      • Materiales en Español
      • Brochures
  • About G1DF
    • About the Foundation
    • Leadership Team
    • Medical Advisory Board
    • Scientific Advisory Board
    • Educational Events and Exhibits
    • Ways to Help
  • News
    • Glimpses | The G1DF Blog
    • Foundation Newsletters >
      • Spring 2022
      • Winter 2022
      • Fall 2021
      • Summer 2021
      • Spring 2021
      • Winter 2021
      • Fall 2020
      • Summer 2020
      • Spring 2020
      • Winter 2020
      • Fall 2019
      • Summer 2019
      • Spring 2019
      • Winter 2019
      • Fall 2018
      • Summer 2018
      • Spring 2018
      • Winter 2018
      • Fall 2017
      • Summer 2017
      • Spring 2017
      • Winter 2017
  • Conferences and Events
    • 2022 Scientific and Family Conference
    • Conferences and Events
    • Glut1 Gatherings on Zoom
  • Get Involved
    • Family and Professional Networks
    • Volunteer Network
    • UTSW Surveys
    • Sign Up for Our Mailing List
    • Ways to Give
    • Shop to Support
    • Donate
    • Love Some1 with Glut1 >
      • 2022 Love Some1 with Glut1
    • Million Dollar Bike Ride
    • Fundraising >
      • Fundraising Help
      • Host a Fundraiser
  • Donate