So I still don't have a diagnosis after 13 years, but I'm working on it. I've had the Marfan/TAAD panel, sequencing from 3Billion, and now I've managed to secure the out-of-pocket funds to see a geneticist. My appointment is August 29th.

Another thing that happened was that I had a phone consultation with a geneticist from The Discover Program. It wasn't an official diagnosis, but she reviewed all my medical records and suggested that a negative Marfan/TAAD plus no ruptures by the age of 34 means that it could be hEDS, not vEDS. In light of that, she chose not to pursue my clinical evaluation.

But there is one thing I forgot to mention to her. While I wait for my actual geneticist appointment, I am busy filling out the 20 pages of extremely in-depth paperwork. One thing that came up was an incident that happened when I was two.

When I was two years old, according to my parents, my "intestines flipped inside out." They never went into much more detail than that. No one seems to know how it happened. I had emergency surgery to save my life, and I healed from it just fine with no post-surgical complications. But it might offer a clue to my diagnosis. Could that have been a rupture associated with vEDS?

Another thing that may or may not be relevant is that I had a sizeable hemangioma on the side of my head when I was a baby. It faded on its own.

So . . . could flipped intestines and a hemangioma be signs of vEDS?