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DiscussionSon has DEE-SWAS epilepsy, heart rate spikes & genetic mutation
Epilepsy & Seizures | Last Active: Jun 5 1:34pm | Replies (27)Comment receiving replies
Replies to "Have they ever tested him for his disease that can be a genetic disorder. A blood..."
He does have an endocrinologist who was trying to figure out why he had gynecomastia. But I don’t think they checked out cortisol or adrenal gland insufficiency stuff.
He doesn’t drink sodas or caffeinated stuff such as coffee. Sugar levels are fine now that he’s not getting iv steroids
His Vit d levels are low normal.
The cardiologist never really said much other than heart issues look ok but he want to consult with cardiogenetics to see but he never told me what cardiogenetics said. So I guess that’s why I’m heading to Mayo as ucsf apparently —nobody knows. They tell me over and over again when he’s hospitalized almost monthly that the doctors just don’t know about his genetic issues, it’s rare. The types and locations. He is the only one, they say.