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3:24am August 17, 2014
Anonymous asked: Do any of your issues like GP stem from a primary condition?

Probably, but we don’t know what it is.   My mother has very similar symptoms to mine, and to a lesser extent my grandmother, so they know it’s probably genetic, and may be unique to our family.

Mitochondrial disease is one thing they haven’t ruled out yet.  They’re going to rule it out if other things don’t happen first.

My mother has autonomic and sensory neuropathy.  Autonomic neuropathy can cause gastroparesis.  I’ve had symptoms of sensory neuropathy or central pain (not sure which) since I can remember, with horrible burning-icy pain all over my entire body.  It’s one of my first memories of connecting with my body – getting blasted with pain.  Learning to dissociate to handle the pain that went untreated because I didn’t know the first thing about how to communicate about it until my teens and early twenties.

But why we have neuropathy is unexplained.

We both have symptoms of myasthenia.  It could be myasthenia gravis, it could be hereditary myasthenia, but it’s definitely a neural junction disorder.  And as my neurologist put it, “There aren’t very many neural junction disorders, so it’s got to be one of these.”  (My EMG showed up abnormal recently.)

I also have adrenal insufficiency to worry about, and that can cause symptoms similar to gastroparesis.

I also have hypermobility syndrome.  It runs in my family, including symptoms that go beyond the joints into other connective tissue problems with organs and skin and stuff, in some of my family members.  This makes me think it may be some mild form of Ehlers Danlos, and of course these days they’re saying that hypermobility syndrome is just another word for mild Ehlers Danlos type III.  I’ve heard that Ehlers Danlos can be linked to both autonomic symptoms (like my mother and I have), and gastroparesis (which I have in a bad way but my mother, if she has it, has only had the mildest symptoms that resolve well on meds).  So there’s that.

But basically I have fucked up genetics, and I’ve known that for a long time because we don’t have nondisabled, healthy people in our family.  We literally don’t have them.  They don’t exist.  Everyone in my family has a disability:

  • Chronic illness
  • Specific learning disability
  • General learning disability/intellectual disability
  • Developmental disability
  • Psychiatric disability
  • Physical disability
  • Autoimmune disease
  • Cognitive disability (including but not limited to dementia)

We all have at least one of those things, most of us more than one.  We don’t even see disability as the sort of thing that needs talking about, half the time.  It’s just something you plan around, something you accommodate, but not something you sit around discussing as if it’s out of the ordinary in any way.  It’s hard to describe it to people who are the only disabled person in their family, or who are nondisabled and have few or no disabled people in their family.

I tried to write about it a little in this post:  The Bones My Family Gave Me

But basically whatever I have, and whatever cause things are eventually reduced to, it’s likely that whatever it is, is both genetic and inherited (meaning not a spontaneous mutation on my part).  I do seem to have gotten the brunt of a lot of the medical problems from both sides of the family, just as I seem to have gotten the most autism-related problems from both sides.  I don’t know what to make of that, other than maybe being XX chromosomes (which I assume I have, but have never been tested, and nobody can truly know without a test) having something to do with it.  Not sure what though.  I’m not a geneticist.

It’s gotten to the point where when I see doctors or nurses, they read my list of diagnoses and matter-of-factly ask me “What’s your genetic syndrome?”  They just assume it’s there and that I know what it is.  Fortunately they take “Still figuring that out” as an answer, given that there are hundreds of genetic disorders out there, both common and rare.  And I haven’t made seeing a geneticist a top priority.  Although I’ve thought maybe I should see one, just to see what they’d find.  I know at one point they were thinking of sending my and my mom’s genetic samples somewhere for analysis of a particular rare genetic disorder that I can’t even remember.  (I wouldn’t mind them finding an answer to what it is, if it would help with treatment in some way, which in that case it might.)

Anyway, whatever it is, is probably tied up with my family.  Most of my illnesses are, even when I’m the only one to have them as severe as I do.  Although in this case I think my mom’s myasthenia is more severe than mine, and so are a couple other things, but then she’s almost seventy and I’m 34, and she’s had autoimmune disorders half her life and I haven’t.

Notes:
  1. expeditionhappiness said: autism is believed to be correlated with ehlers danlos as well and no one knows why.
  2. withasmoothroundstone posted this