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      jacklovewhat

A rare inherited metabolic disorder, or inborn error of metabolism, wreaked havoc on my infant son in the form of intractable epilepsy as his doctor’s remained stumped for nearly 6 months. Although it has been over 2 years since Jack’s birth and then HIE (hypoxic ischemic encephalopothy), I find myself still learning to heal. Jack has a laundry list of diagnoses and development delays, but he is a happy and thriving little boy! Jack’s genetic metabolic disorder is called Pyridoxine Dependent Epilepsy (PDE). ↓↓

Looking for more information on PDE? Start here:

ABOUT PDE

Early Genetic Testing

Triple Therapy for PDE + Lysine Restricted Diet

Lysine Restricted Diet Recommended for PDE

jackepilepsywarrior

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