Our experience with testing of blood, urine, stool samples has been dismal. We finally went with genetic testing through Mt. Sinai genetic testing lab in NYC. 3 wks later, it was finally confirmed. The myriad of symptoms my daughter was experiencing was due to AIP. There are several forms of accute porphyria; Variegate Porphyria symptoms can include both neurovisceral and cutaneous potosensitivity (sunlight blisters/rash).

Our experience with testing was dismal and disheartening as well. We have not done genetic testing as the glucose and hemen treatments have worked. Tomorrow will be her first prophylactic dose of hemen to see if we can get her through her menstrual cycle without an episode.