- CASE FILE
My 4 year old son suffers from Intractable Epilepsy and episodic hyperkalemia that results in arrhythmias and cardiac arrest.
ABOUT THIS CASE FILE
My son suffers from Intractable Epilepsy with generalized and focal features. He failed numerous meds and is till not 100% controlled. Long seizures result in Todd’s paralysis on the left side for hours to days following. He also suffers from episodic hyperkalemia where the potassium builds up in his body without a know trigger and results in arrhythmias and cardiac arrest. He was implanted with an ICD because of this. Due to all of this he is globally delayed by close to a year (speech is delayed more). He struggles with eating and has a gtube for nutrition and medication. We have been battling this since fall 2016 and still don’t have a diagnosis or clear plan. They suspect a channelopathy but so far genetics has only come up with 9 Variants of Unknown Significance but no diagnosis.