The short story of Ben:)
Ben is a sweet 17 year old, high schooler who has struggled with developmental delays that include seizures, movement disorders, fatigue, speech difficulty and learning disabilities since he was an infant. A true mystery. In 2015, after years of office visits & testing, Ben was diagnosed with Glucose Transporter Type1 Deficiency (GLUT1), a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar and the primary energy source) to cross the blood-brain barrier resulting in symptoms including seizures, complex movement disorders, speech and language disorders, and developmental delays. No current cure, but mystery solved.
Overnight we became members of the GLUT1 family. Our research led us to the GLUT1 Deficiency Foundation website where we found information on a clinical trial being conducted. Ben immediately participated in the study of a food grade oil (C7) to potentially treat seizure disorders but this study was recently discontinued and Ben is now currently in the beginning stages of the Ketogenic Diet. This is the recommend treatment for GLUT1 which gives the brain an alternate source of energy and helps optimize brain growth and development.
Ben enjoys playing on his Miracle League baseball team, playing video games and listening to music. Although Ben faces daily challenges in and out of school he always pursues with a positive attitude and a beautiful smile. He is a lovable, happy, handsome boy and he completes our family in the most special way.
We hope you will Love our Love Some 1 with Glut 1 by making a donation to the G1D Foundation so that us and others can continue to benefit from this research and hopefully find a cure!
Thank You From The Young Family
The Love Some1 with Glut1 annual campaign is the primary awareness and fundraising event for the Glut1 Deficiency Foundation. It runs from February 14-28, Valentine's Day through Rare Disease Day, and it is an important opportunity to spread awareness and raise much-needed funds to help better serve the needs of the Glut1 community.
Please visit our website to learn more about Glut1 Deficiency and the work of the G1D Foundation.