Thursday, August 04, 2016

OMG, Like, She Says She's Got Something Else?

It's a long list.  I'm sure, in fact I know, some people roll their eyes when I say on facebook that I have another diagnosis. Something else is wrong.  Yes, something else.  How can another thing no one has heard of be wrong?  Well, to start with, the sort of person who asks that question probably doesn't want to stick around for the answer.  That person is just incredulous.  But yes, I do have a lot of diagnoses.  The reason is that what I have is Ehlers-Danlos Syndrome.  It's actually a syndrome and not really a disease.  That's where it gets complicated.

A disease is a specific health condition with a specific reason behind it.  Say one we've all heard of.  Influenza.  That's a disease.  It's a well defined problem caused by a specific virus that causes a set of symptoms that run a pretty predictable course.  Syndromes are different.  Syndromes are fuzzy.  They're defined, but they tend to be a cluster of problems and maybe we don't know why people have them, or they get them for a number of reasons.  Take Ehlers-Danlos Syndrome.  It's a really funny one.  It's caused by a number of collegen problems, not just one.  People with EDS are missing some of the genetic information to make a type of collagen, but it's different types of collagen.  For some people it's type 3, and others it's type 5A, and there are others.  They all cause the similar group of problems called that taken together are called Ehlers-Danlos Syndrome.  Clear as mud.

So people with EDS have a group of health problems caused by a genetic mutation.  That group of problems together is the syndrome.  Some of us have more on the list, some have fewer.  Many of the things on the list will be orthopedic injury.  However, it's found that we also get skin problems, and also problems with our hollow organs.  Another group of problems we get are neurological.  These seem to come as a result of what is really an orthopedic problem - The joint between our heads and necks gets really messed up and interferes with the spinal cords and lower brain, and sometimes spinal fluid pressure.  We get cardiac problems because your blood vessels and heart are hollow organs, and we have problems with those.  We get tummy problems and digestive trouble - again - hollow organs.  We have pain.  Lots of pain.  It's because the lack of collagen makes all our body parts fragile and break easy.  Start to see the problem?

So yes, I have a long list, because so many thing CAN go wrong when a protein found all over your body isn't being made right.  Just off the top of my head, and not to be an exhaustive list, I've lately been diagnosed with these things, and I think they're actually correct:  cervical medullary syndrome, atlantoaxial subluxation and instability (this is fused, but there), pubis symphasis dysfunction, sacro-illiac joint dysfunction, gastroparisis, multi-directional shoulder instability, osteoarthritis, chronic pain disease, postural orthostatic tachicardia syndrome, orthostatic hypotension, colitis, vestibular hyperacusis, periformis syndrome, and c3/c4 segmental instability.  This is just what I can think of, and these are all diagnosed by specialists, not by me or Dr. Google.  We're also working on diagnoses for what we suspect are neurogenic bladder, small fiber neuropathy, some other form of dysautonomia, and a mast cell disorder.  Getting the diagnoses pinned down takes time.  So I schlep to and from doctors at least once a week. 

This is real, and it's my life.  HaShem made me this way.  It just is.  It's not my job to be inspiring or overcome it because this is just in my genes.  It's only my job to live with this.  Talking about it isn't scary or negative.  It just is.  It's how things are for us or my family.  It doesn't make us pitiful or make our family dysfunctional.  Hiding it does.  I just that I have limitations on what I can do, and only I and my family really understand what they are.  It's not a shame or embarrassment.  It just is.
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