Brooke's Journey

GLUT-1 Conference in Louisville, KY

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This entry was posted on 7/21/2010 6:32 AM and is filed under uncategorized.

Saturday we returned from the GLUT-1 Conference in Louisville.  We were happy to hear some very encouraging news regarding the ongoing research and study of GLUT-1 DS.  Dr. Pascual (one of the main doctors heading the research Dallas Southwestern Hospital) said this is "fundamentall solvable.  We just have to figure out how."  Dr. Roe, a colleague, spoke of the upcoming treatment being developed which is known as C7 oil (triheptanoin) which could allow our children a normal diet.  Clinical trials will start soon then they will move onto FDA approval.  They're hoping for this to become available to our children within two years.  (needing FDA approval, I find this highly doubtful but I'm hopeful)  This oil and the chemistry behind how it could work was explained as it helping to fill a missing link in the cycle of energy production for the brain.  Brooke would take 4 doses daily and be able to enjoy a normal diet.  Calorie restrictions would be the same as for any growing child. 
Several of the Doctors also spoke of the possibility of the number of undiagnosed potential cases of GLUT-1 being in the thousands!  There are now only about 150.  So please, if you know of a family struggling with an undiagnosed developmental delay, please research GLUT-1 and see if the symptoms compare.  Many children with Cerebral Palsy and epileptic symptoms are going undiagnosed.  There is treatment with the Ketogenic Diet and a team of Doctors working on even better treatment.  Our next mission is to get to Dallas to see Dr. Pascual.  They need our children to accurately move forward in their research and of course, we need their expertise on GLUT-1 to be certain we are doing all we can for Brooke. 

 

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Comments

    • 7/21/2010 7:40 AM Mike and Shar wrote:
      As we have said throughout Brooke's life, God chose the perfect parents for her. They will go to the moon and back to give her the best life possible. Love to all. Mike and Shar
      Reply to this
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