Glut1 Deficiency Foundation
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Rian


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When Rian was 6 months old we believed she had a seizure. Doctors at the time said that it was reflux. We were in disbelief and that was not a good enough answer. Her Pediatrician had ordered an EEG and the results came back normal. Then 2 weeks later she went cross eyed for about 3 minutes. That raised a huge red flag, but what could this be. We then went to see a neurologist who ordered a MRI which then also came back normal. Rian would go through these periods of time to where she could hardly sit up. Rian was a happy baby but at the same time not reaching milestones like her peers. We were concerned parents and like any parents, we wanted answers.

Rian didn’t start pulling herself up till she was about 14 months old and did not fully walk until after her 2nd Birthday. She had tubes put in around this same time and we were hoping this would help but no improvements were made. When she did walk, it was with a wide unsteady gait, as if she was drunk. By this time Rian’s left eye started going lazy so we took her to an Ophthalmologist who prescribed glasses. We were hoping this would possibly help with her balance. During this period of time we started Earlysteps to try and help Rian with her milestones and reach goals. We then saw a developmental delay specialist who could not put his finger on what was going on with our daughter and a Geneticist who ran every possible test. All tests that the doctors were running were all coming back normal and this did not sit well with us.

We decided to take her to a Neuroethology who ran several vestibular tests on Rian and ordered a CT scan of her inner ear. When these test came back they were normal as well. We still didn’t understand what was going on with our baby. There were days to where she would be okay and others it would make you want to cry, scratch your head, and fight for whatever was going on.

We then saw a 4th neurologist for another opinion hoping that there would be something the other doctors may have missed. At the time he could not put his finger on what was going on. Rian started having involuntary movements in her body along with her unsteady gait and she would go through a period of time during the day to where she could hardly stand up and function. Finally, we were at our wits end and decided the only thing we could do at this point was to get the whole exome sequencing test done.

We are beyond happy to say we finally have a a diagnosis on Rian.  It had been a Journey.  For everyone who donated we cannot thank you enough.  Without this test we may have never been able to get a diagnosis for our sweet girl.  She has been a trooper through all her testing and doctor appointments.  We were able to send the whole exome sequencing genetic test in November 2015.  At the time we believed it would take three to five months to get the results back.  On Friday, February 5, 2016 we received a call that has now changed our life.  Rian has finally been diagnosed with GLUT1. This is the answer we have been wanting since she was 6 months old.
Since her Diagnosis
Rian is on a modified Atkins diet, which limits her carbohydrate intake to 20grams per day. Her neurologist does not recommend using the ketogenic diet unless her symptoms worsen. So far, the modified Atkins diet has helped her improve in many aspects. Her speech has drastically improved and she is now able to walk without falling over multiple times. Within two weeks after starting the diet, she began to pedal her tricycle and just recently she began jumping. She still receives physical therapy, occupational therapy, and speech therapy. She is the most fun- loving and happy little girl; we are so blessed to have her and even more blessed for everyone that donated and prayed for her.

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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 News
      • Research Grant Program >
        • Research Grant Award Recipients
      • Recent Publications
      • Patient Registry
    • Resources >
      • Resource List
      • Videos
      • Cognition and Learning
      • Family Recommended Specialists
      • COVID-19
      • Patient Stories >
        • 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
    • CZI Rare As One
    • Foundation Newsletters >
      • 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
    • Conferences
    • 2021 Scientific and Family Conferences
    • 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 >
      • 2021 Love Some1 with Glut1
    • Million Dollar Bike Ride
    • Fundraising >
      • Fundraising Help
      • Host a Fundraiser
  • Donate