TF is going on in here? What is wrong with all of you people? None of you are physicians, I doubt even medical professionals, and even the "best" "written" comments in here are absolute drivel. You are NOT being helpful. You are torturing someone while stoking a House, MD type fantasy.Dear OP, I sympathize with you. Dealing with a sick kid is trying and tough and this awful thread is NOT useful to your mind state NOR your health.A problem I have noticed in my short career has been clear communications to patients. I highly doubt after 4 hospitals, 14 specialists, and however many other physicians and staff that no one has come up with a diagnosis. What does this mean? I bet at minimum you had multiple different teams with multiple different personnel working on your daughter's case. It's possible the primary team wasn't doing their damn job of synthesizing all of the specialists information into easy to understand information and presenting that information to you. Even when we don't "know" what's going on, I can still call something idiopathic (as in I don't know) or I can throw out a variety of possible causes in what we call a differential diagnosis.To everyone saying "gEt GEnEtIC tEsTiNG". That's not even how any of this works. Even if we were to use "genetic testing" this would only confirm the diagnosis, NOT LEAD US TO THE DIAGNOSIS. Even then it is absolutely unnecessary for treatment in this case. Genetic testing is useful when we are performing family planning or working on research on illnesses. To my knowledge, and I'm open to any updates, bread and butter medicine does not YET have the tools to use genetic testing in the fashion many of you seem to think exists.
According to what I found online, Mount Sinai has the only genetic test for porphyria. Trust me, I had a couple hundred dollars ready to spend on the genetic testing but everyone I spoke to who was versed in this stuff said it wouldnt make a difference