DNA testing in Life with Ehlers Danlos

  • Jan. 22, 2021, 9:07 a.m.
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I am going to start focusing less on my pudendal nerve surgery updates and transition over to a life with EDS public blog. I will try and tie everything together that way in terms of my PNE as well as life with EDS. More than likely, nothing has/ will change in terms of my nerve pain, at least not for a long while. My vlogs are getting redundant and my face is looking worse and worse with time. I apologize to the folks who would rather watch a Youtube video than read my rambling depressing rants via text. (heavy sighs)

I got the results of my DNA test back. Earlier than I expected. I wasn’t fully prepared to read the email. Sighs.

They tested for 7 ( I think) out of the 14 types of EDS, marfans syndrome, Loeyz dietz syndrome and some other connective tissue disorders. Everything they tested for was negative. So I don’t have any of the life threatening kinds of connective disorders. Vascular EDS and heart valve EDS/connective tissue disorders was what was going to be the concern there.

Don’t celebrate. Unfortunately its never a good thing for me to have negative test results because I need things to show up to be taken seriously. People saying “I’m glad its nothing serious”…. they mean well. But it’s not what I need to make any type of progress. There is so much gaslighting in the medical community. So I am suffering without any REAL known cause. Even though in my heart I kinda know what’s going on.

I most likely have the most common type of EDS which is called hypermobile EDS (hEDS)… but since I am one or two freakin points off on the Beighton scale (It’s a physical test they do to assess how BENDY you are… I hate that stupid scale). I don’t meet the 2017 criteria for an on paper hEDS diagnosis so that means that I TECHNICALLY on paper have HSD (Hypermobility spectrum disorder) which is basically the “least extreme” form of EDS but still comes with a shit ton of co-morbidities. So people have it EVEN worse than me… But having PNE on top of this bullshit makes me feel like I am sicker than I am I guess. Having PN/PNE is fucked up in of itself…

The medical world has no freakin idea what they are doing, for the most part. They know what they know, but theres a reason they call it a “practice”. You tend to learn this pretty early when you are dealing with rare illnesses. SOME good news: The EDS society has gotten two seperate 6 digit donations this year. Close to a million dollars in 2020. In my lifetime they are going to figure this out. But it may be too late for me by then.

I am going through another grieving process.

One interesting thing did show up tho. I have a mutation in the FKBP14 gene which is on chromosome 7. 4 different mutations of this can causes kEDS (one of the more serious types) but the variant I have they claim is benign (non disease causing)… which is just code for “we dont know what it means yet”. That gene is involved in precollagen/ synthesis and formation so it obviously plays a role somewhere in forming and folding of connective tissue. I need to research whole genome sequencing to see what more I can find out.

Timmy™ January 22, 2021


music & dogs & wine January 22, 2021

That's gotta be frustrating for sure!!

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