So Now We Know, and Onward We Go

        Inasmuch as I have been sharing the continuing saga of my search to find answers for myself, I suppose it would be appropriate to share what has happened this past week, as some major, significant events transpired to illuminate a lot of what has been going on!  So let's get on that, hmm?

        If you've been reading along with me (most recently here and here), you'll know I've been gearing up to finally meet the geneticist who would be evaluating my physical situation and helping identify what has been going on with my body!  I've been sharing it mostly because I know that there are others out there on a similar journey, and I feel it is important to share my own so that they might either have some new ideas to consider, or at the very least know they aren't alone - which is the whole point of the PB Project!  And I also want to help others know that these things exist, so maybe more awareness and compassion can exist in this world!

Cue the orchestra and crescendo to fanfare, please!

        There are times in life when things just "fall into place".  I've heard many people describe their own situations using the term, "miracles", and such.  Despite continual obstacles, I saw this doctor two years sooner than I would have, and only had to wait 6 months more, for a total of 1-1/2 years instead of 3+, for which I was very grateful!

        Since I had printed off a list of my related symptoms, and had my full, travel-sized, medical list of all my information most doctors' offices need to get for their records, which I have them scan rather than writing it all out, to save time, he could get to know me much quicker, do a physical examination, go over his entire list of other questions, and then give me whatever information he could at that point.  The extra time was spent discussing what I already knew, to build on that.

        I'm going to share some of this, because I'm facing a rare, genetic illness, and even few doctors are familiar with it.  Only one of the specialists treating me has had any, real knowledge of it, and therefore some of what many have done to diagnose/treat me for my symptoms under their care has either not been helpful, or has even in some cases damaged my body.  It's important people know, and understand, but I'll spare you many of the details, and you can look it up if desired.

        Many who have rare diseases try to hide them, so most people have no idea, due to stigma or misunderstanding.  The truth is, you will now know of one, rare disease which you likely haven't known, before.  There are countless, other diseases of which some are so rare there are only a few cases ever documented!  And before I began this journey to find my answers, I had no idea!  Oh, the things I have learned and seen!

        So here we go.**

        I have the Hypermobility Type of Ehlers-Danlos Syndrome (EDS-HT, also known at Type 3), and he noticed some signs of the Vascular Type (vEDS), so he will be testing for that and the others, as well.  There are basically 4 types of EDS, all related to an inability to create collagen properly.  Collagen holds the body together like glue.  Some say EDS is kind of like the body having a bad "recipe", so that no matter what kind or quality of ingredients you try to add, such as supplements and so forth, the collagen will not turn out well.

        Fortunately, EDS-HT is not directly life-threatening, and mostly affects the connective tissues around the joints, muscles, spine and elsewhere, causing such things as early-onset osteoarthritis; extreme, widespread, chronic pain similar to Fibromyalgia; and other issues.  However, it can cause serious complications, such as when the discs of the spine wear out or osteoarthritis develops, and can damage nerves which affect organs and autonomic nervous system functions, such as blood pressure, temperature regulation, and things like gastroparesis, which I believe I've mentioned before.  Unfortunately, while extremely rare, vEDS can be fatal, as it affects the structure of the blood vessels, organs, and such, and if those can't keep it together, then the real trouble starts.

        So, longer story shorter, over the next year, there will be a series of tests, consulting other specialists, working to help my body be as functional as possible, and going from there (insurance willing).  As I am starting to have more complications, we now know how to better face them, and hopefully in time there will be better means of treating all of it.  Unfortunately, EDS is incurable, and so all we can do is try to find means of stabilizing and doing what they call, palliative, or comfort care, which is basically just treating the symptoms as much as possible.

You might ask, how am I handling all of this?  

        I already knew I had EDS-HT.  When I was diagnosed with enough things that the pieces started to fit and my primary doctor believed it was likely, it was just a matter of finding out if a specialist trained in identifying it agreed, so that was actually a kind of relief, to know I've not been completely off-base.  However, his worry about vEDS came as a surprise, as it is so rare, and I've had so few symptoms *I* could see, it had never crossed my mind I could have that!  I knew EDS-HT is basically just facing a long, difficult road ahead with painful and sometimes dangerous issues related to it, but I had no preparation for the possibility I could be a "ticking time bomb" of another type!

So yeah, I have a few, mixed emotions.

     
        On the other hand, none of us really knows what lies ahead, right?  We can only do what we can to live a life of meaning, value, and purpose, working on being as healthy as we can be in body, mind, and being.  We need self-compassion, self-love, and self-care, in order to balance the scales and move forward toward better and brighter things.  We need gratitude, hope, progress, rejuvenation, love, and to work on making good things happen, to provide a source of light and potential joy.  I've known that for a long time, and I've been trying to actively work toward that balance and find that light within, and without.  That is why I'm here, doing this; hoping to help even one person who needs to find their own answers, or at least know that they aren't alone in whatever it is they face.  If that is you, then I'm grateful to be able to do it for you.

It isn't easy, no matter what we face in life, but it is definitely worth it.  

And I need to remember that.  We all do.  

That's why we're in this together, right?

Let's do this.

        Better days ahead, my friends!

** In 2017 the diagnostic criteria for EDS and its subtypes was finally updated. If you really want to study up with more detail, start here. Shortly thereafter I was re-diagnosed with what is now hEDS, or the Hypermobile Type, but the Vascular Type (vEDS) was ruled out.