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A year ago our son Patrick was diagnosed with Glut-1 Deficiency, a rare genetic condition that affects brain metabolism. It is caused by a mutation in the SLC2A1 gene which regulates the glucose transporter protein type 1 (Glut 1). Impaired glucose transport associated with Glut1 Deficiency creates an energy crisis in the brain and often results in seizures, movement disorders and developmental delays. The standard of care treatment is a ketogenic diet. This low-carbohydrate, high-fat diet causes the body to produce ketones, which are used as an energy source by the brain and other tissues when glucose is limited.
Matthew’s Friends is a registered charity that specialises in ketogenic dietary therapies for medical conditions including Glut 1 Deficiency.
Within two weeks of him starting the diet, the seizures (absences) stopped completely. Since then we have noticed huge improvements.
I am therefore looking to raise money and awareness for Matthews Friends and the Glut-1 condition.
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