- LocationNorth Carolina
- Case #Loren
Loren was born in February 2013. She has been diagnosed with pyruvate dehydrogenase deficiency (confirmed via genetic testing), spastic quadriplegia with axial hypotonia, microcephaly, protein-calorie malnutrition III degree, and global developmental delay.
Subsequent to her formal diagnosis of pyruvate dehydrogenase deficiency in 2016, Loren was placed on a ketogenic diet for management of symptoms, which resulted in weight gain and some developmental and emotional progress.