It's been a few days now since me and my mom where sitting in a room with Genetics Doctors explaining to us what this new diagnosis entailed and what it means, and the more I listened to them the more and more The "Shoe" fit. Things that I didn't know needed an explanation got one, and things that where obvious red flags where at least semi explainable.
What "Shoe" am I talking about? Well I'm not actually talking about a shoe but a diagnosis that fits perfectly with everything that has been going on for the last four years. The diagnosis of Ehlers-Danlos Syndrome Hypermobility Type or Type III. Basically my connective tissue is missing a component making that tissue loose, and because connective tissue is the supporting architecture of organs, muscles, bones, and skin that are many problems caused by this looseness.
It explains why I've never been able to hold a pencil properly, or why when I go to the dentist the numbing shots don't work well, but those where things I didn't think needed an explanation they have just always been that way so I didn't know any different. Same with the feelings I have in my joints that are hard to describe, but have always been there, and with this odd thing I do with my jaw that my mom use to always ask about as well as my mom use to think my shoulders looked off, and that's because according to the doctors my shoulder muscles are extremely loose, which would be why my shoulders hurt a lot, and why I can do things like lick my elbow, because when I go to lick my elbow my shoulder isn't held in place so it dislocates making elbow licking possible. With that stuff the ''shoe" fit perfectly, and the doctors knew exactly what I was talking about.
But that's not where it stops, with all of the symptoms to my illness, as I gave them to the Genetics Fellow, she said she and the rest of the Genetics team already knew the EDS diagnosis before I even walked in the door. The POTS I had been diagnoses with is caused by the EDS because the veins are made of connective tissue and with that tissue being faulty my body doesn't react quickly to changes in blood pressure. 70% of people with my type of EDS have some form of Dysautonomia. The reason I am so dehydrated is my body literally never gets thirsty, so I never have the urge to drink something because my body needs it. EDS also causes the "fight or flight" response to be easily activated and inappropriately so. This fact covers why I am almost always anxious without knowing why, why i startle easily and why I don't sleep well. My GI symptoms are severe but are caused by the EDS, the doctors don't know why these symptoms manifest but they do in about half of EDS patients. The doctor was able to explain what my stomach is doing basically you GI track is suppose to contract from top to bottom all the way throughout but with EDS it contracts randomly which would be why I can pass motility tests but not be able to keep the meal down. It also covers my body wide pain, and my headaches. Both are caused by the looseness of my connective tissue, the headaches are from not having stable muscles to hold my head up and the body wide pain comes from the instability of my joins.
That's just a synopsis of what was told to us by the Genetics doctors, so as you can see it's a complex disease, and now one that I will have to manage all of my life as it was born with it and there is no cure. For me that was the tough part to swallow, going from just the POTS diagnosis, which had a chance of going away completely to the EDS diagnosis with POTS caused by the EDS which can be managed but there are still going to be days where the illness wins, and getting it managed is going to be a long, tough road for me.
