What is Glut1?
Glut1 Transporter Deficiency Syndrome is a little known genetic condition that was identified by Dr. Darryl De Vivo in 1991. In Glut1 ds patients, the Glucose Transporter Type 1, which is responsible for carrying glucose across the blood-brain barrier, is defective and leaves the brain starving for the energy it needs to grow and develop. Since glucose is the primary energy source for the brain, all areas of development are affected in some way - in varying degrees among patients.
For now, the best treatment option for Glut1 ds is the ketogenic diet, which provides the body and brain with an alternate source of energy - ketone bodies. Ketone bodies do not replace glucose in every way, and individuals treated with the diet still experience some degrees of neurological, mental and physical difficulties but, at the present time, they are the best alternative. In Glut1 ds, the ketogenic diet should be introduced as early as possible to meet the energy demands of the developing brain and should be maintained into puberty.
Speech and handwriting are often areas where these children struggle. Most will require some form of PT, OT and speech/language therapy. Unfortunately, many patients have sought answers for years before getting a proper Glut1 ds diagnosis. It is likely that more Glut1 ds cases exist, but simply have not been properly diagnosed. Few medical professionals are aware of the condition, and those who are, may never have diagnosed a case.
If you would like to know how this sweet and brave little girl and her family are helping and how you can help, visit my sweet friend Lori Boyds blog HERE.
Hugs, JennK
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