Yesterday was a good day. I finally got the answer I have been waiting so long for. I have Ehlers-Danlos.
The missing link to my medical mystery and what is likely the root cause of the many years of medical problems in my life, from the more current to those reaching back to my childhood.
It was confirmed by a leading geneticist from Tulane Medical's genetics department after a thorough and extensive evaluation by him and his colleagues.
For those not familiar with it, Ehlers-Danlos (EDS) is a genetic disorder that effects collagen. Collagen is the main structural protein found in connective tissues of animals. Literally the "glue" that holds everything in our bodies together. It is found in everything in our bodies; Organs, ligaments, tendons, bones, cartilage, blood vessels, teeth, eyes, skin, everything.
There are various types of Ehlers-Danlos, some worse and rarer than others. Ehlers-Danlos is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen. Some forms can be identified by genetic markers, and some have not yet been identified. It's a lifelong, painful condition with no cure.
Yet I cannot express how relieved I feel to know it is indeed the missing link.
Having leading experts in the genetics field acknowledge my concerns and confirm what I suspected (and questioned years ago to other doctors only to be dismissed)... to finally have some kind of closure and explanation to why it never got better when doctors promised it would.
Going in expecting the worst... to be seen by another doctor who wouldn't listen and would just blame Fibromyalgia despite my clear clinical history. That scenario happened so many times over the years I lost count.
These doctors not only got my medical record ( you'd be surprised how many doctors I have seen who never did or never looked at it fully even when offered ).... and read it. All of it.
I mention something I wanted to be sure they knew ( and wouldn't know unless they read my history) and they responded not only saying they "read that in my file" but then made another random comment based on something else they read (that I had not brought up).... I almost broke down crying right there because it's been so long since I had a medical professional do that. Know me and my full medical history. Which is really sad to say it is not more common.
I knew in that moment it was all worth the fight to get this far.
They listened. We thanked them more than we have ever thanked any medical professional.
Now the battle for disability and Medicare really begins.