I was diagnosed with hEDS, then POTS, then MCAS. But my actual condition is Hereditary alpha-Tryptasemia which is caused by extra copies of the TPSAB1 gene. Mine is 3,2. It encompasses all of the issues that I have, including the EDS, dysautonomia, allergic issues, seizure like episodes, mental fogginess, etc. It took 10 years and dozens of doctors before I could find one to listen to me and get the proper diagnosis. Unfortunately, I found the same problem with the geneticist as you describe in the video. I got my diagnosis, but there was nothing she could do for me outside of referring to other doctors. My primary doctor does not have a great understanding of my condition and the one doctor I see that does (Dr. Hasan Abdallah, my dysautonomia specialist) is a 4 hour drive each way to go see. Unfortunately, my kids are also affected so this disease is difficult to manage for me and multiplied by having to also manage it in my children.

Wonderful talk Dr. Gaffney, powerful words then and now...