So, we went in June to Boston, saw Dr. Castells, and, come to find out, I'm not just a crazy over protective mom that is making things up! We got our diagnosis of MCAD, until we can do further testing, which is what I'm in the process of trying to do right now! THey recommended we get an endoscopy because of all of her GI problems, a skin biopsy to see if her TMEP is related, and, because she'll already be under, a bone marrow biopsy. She also needs a CT to make sure none of her organs are enlarged, and a full workup for POTS. I need to find a doctor here who knows about mast cell disease, how to test, which biopsies to do, etc! I want to go to one doctor, and have him facilitate the procedures! I can't find a doctor anywhere, everyone I call won't accept pediatrics, (she is just 6!) or won't accept Medicaid. With myself having to quit my business to take care of Zoe full time, we're on a one income household right now, there's no way we can pay out of pocket! Does anyone have a recommendation or know of a patient advocate I can contact? I've been at this since the end of June... I'm exhausted, and my kid is beyond sick at this point. We need answers, and a new medicine protocol, our current one isn't working. Thank you, anyone and everyone for your help, I'm out of ideas, any and all are appreciated!!

Since Zoe is already a patient of Dr. Castells, you should get back in touch with her.  She will probably do a phone consult with you or with Zoe's current pediatrician or allergist or pediatric gastroenterologist.  They are also doing some sort of online consultations, I believe.  Sometimes she will start medications before testing is complete.

If she has a mast cell disorder, no contrast dye should be given for a CT unless absolutely necessary, and for that and for other invasive procedures, she should be given pre-medications according to the REMA protocols before the procedure.  Be sure to speak with the anesthesiologist ahead of time to alert him or her to the MCAD issues, and give him/her the list of anesthetics, etc., that are less likely to cause a problem.  All of that is in the emergency procedures information on this forum or at www.tmsforacure

Have you tried diet changes (low histamine diet) to see if that helps her?

Hope you get some relief soon.

Joan is correct in that you should contact Dr Castells. Your daughter is already her patient - she doesn't dump her patients after seeing them. She is the highest authority. So if you are having problems or the meds aren't working as well, contact her and see what she advises. Ask her for a local doc recommendation, but I would find a doc who is willing to follow her advice.

BMB testing must be done if one of a handful of centers if you are in the US, which you are. Most labs do not know the specifics of mast cell disease and will not test correctly. Thus you can get false results. To avoid that, it is recommended to do the testing at Boston, NIH, or Mayo. At one point, it was suggested to do the biopsy locally and then send it to Boston. Don't know if that is still and option.