On KLK15 caused Ehlers-Danlos Syndrome
You may have heard.
Researchers at the Norris Lab at Medical University South Carolina have found a possible cause for hEDS: a nasty code on a gene called kallikrein 15, located on chromosome 19.
Let's call it KLK15 from here on.
What is this nightmare KLK15?
“This study reframes hEDS as a condition involving matrix remodeling and immune signaling beyond collagen defects.”
It causes deranged signaling in the immune system, damages the scaffolding between cells, and interferes with the body’s ability to communicate with itself. Hmmm. Well, that’s a workable description of how it feels to be me.
Vaguely sick, falling apart, physically confused.
This dangerous version of KLK15 was found on families with EDS and on some unlucky folks who were the only person in their family with EDS.
Sometimes a gene error is not inherited. It can occur spontaneously during fetal development. Then it is yours to keep and pass on, lucky you.
Before the power of computing made massive genetic studies possible, when only one individual in a family appeared with a genetic disorder usually inherited, they called it “hidden parentage.” As in surely this defect must have come from your mother’s secret lover. Or maybe your undisclosed adoption.
Nope! You did it to yourself!
Then the Norris Lab researchers put this harmful KLK15 coding in mice. And they turned out to be, well, like me.
Not to brag, but I’ve long described myself as someone who cannot heal.
You, too?
And I’ve spent a lot of my life feeling like I had the flu 24/7. You, too?
Especially after age 13, when I had a big growth spurt. That’s a common age for an EDS crash from which there is no recovery. But some go longer with less disability.
Not that things were going well for me before that age. I was a flimsy, skinny scrawny child with perpetually cold hands who got very very very tired and didn’t like to eat unless it was cake frosting. Food was just, well, difficult and uncomfortable.
I got strep throat over and over.
I suffered an awful lot of stomach aches.
I needed strong glasses at age 10.
My skin was sensitive and itchy.
In ballet class, the teacher marveled at how much I could move my rib cage.
Stretching on the sand at Junior Lifeguards, I outdid everyone with my extreme hip flexibility.
The pediatrician told me not to bend my knees backwards because it was bad for them.
Other than that, I passed for normal enough. I could keep up with the other kiddos. Until I grew.
Suddenly, I had horrible growing pains.
I constantly felt like I was going to faint, but I never did.
It became oddly hard to move my body around, to walk, to carry my backpack, to sit for a long time, to grip a pen.
My feet exploded in ripping pain. But I was quickly distracted by that from the aching in my low back, then knees so painful they scared me. There was another EDS gift coming soon to soothe me: too unspeakably fatigued to care.
No, I was not one of the fun kids.
After growing, I felt my loose joints like I hadn’t as a small child. I felt shaken, vulnerable, unsteady, weak, strained, fragile, fearful of being pushed or pulled. Feelings of panic overwhelmed me often. Back then, then no one talked about anxiety.
Life became very confusing. As if junior high school wasn’t bad enough.
And now I have many questions.
Am I a KLK15 EDSer?
I’ve had all my collagen genes looked at twice, and the TNXB region thoroughly examined (because that gene can be missing altogether when it causes EDS), and my problem is not there. This work was done in a real genetics lab staffed by scientists paid for by my insurance, not by a home genome kit, which, could be fun.
If I do possess a poisonous KLK15 recipe that is destroying my collagen and my life, then perhaps all this C loading by injection is intervening in my immune dysfunction. Perhaps it is making some healing chemical process more helpful or limiting a harmful pathway, in addition to nourishing collagen as ascorbic acid does.
If it were a placebo, it would have worn off by now.
You know — if you have spent time on my site — I began injecting Vitamin C daily in December 0f 2012, and I got much better. Not normal, but I take what I can get, and I’m grateful.
I wrote this blog in the years after I was off opioids (total hell) and living my life like I never could before (totally amazing). This epoch was a lot like being let out of prison for a crime I did not commit. Oh the joy and wonder! And, hey! WTF happened to my life?
Then at some point I got busy and switched to writing on other subjects. Now I never visit my site and can’t really remember what I wrote here.
But I do recall the gist of it.
Let me sum up LessFlexible for you.
My doctor was giving me injections of Vitamin C because he, too, noticed that I’m a failure at healing.
I always felt a boost from them. I asked for more, even though they f*cking burn like a wasp sting.
The more frequently I got C injected, the better I felt. I insisted on trying C shots more often. He was against this. I did it anyway.
After six months of daily C shots I was out there, making progress in physical therapy, finally!
After six more months, I started my titrate off opioids. I got to the end of my daily opioid use about seven excruciating months later. If you are going off opoids, best to go very slowly, or the torture will be too unbearable to stay off them. I didn't understand this until I went through it.
Yes, to answer your question, I was always trying to get stronger and regularly trying to get off the Vicodin, morhpine, and Soma I took every night. It never worked until I saturated myself with C and exercised. Without the C, I could not tolerate or benefit from exercise.
Why do I mention exercise?
A strong heart means less POTS and strong muscles support loose joints.
Yes, to answer your next question, I am met with skepticism that injecting C would be any different than oral C. Shrug.
Yes, I tried a long period of high-dose oral C before we started injecting me. It didn’t do anything noticeable.
Injected Vitamin C is a treatment for burn victims who need the C to rebuild body tissue and collagen. Wait, what? They can’t swallow enough C to heal up? Well, maybe my tissue is so bad off, I can’t swallow enough C to rebuild either.
Without the C injected, I have many symptoms of scurvy, but not full-blown scurvy.
In full-blown scurvy, bones unknit at the site of previous breaks. Wow. That suggests to me that a steady input of C keeps collagen together. In my native state, I am always falling apart.
Accounts of fatal scurvy exist is in the stories of sailors during the Age of Sail.
On long voyages across oceans, no one brought vegetables.
Death by scurvy was common.
It was a harrowing demise that is not seen in the modern world where Vitamin C is hard to avoid so any scurvy is mild.
A few years ago, I reduced my C shots to every other day. I noticed many bruises so I went back to everyday. Was that a coincidence? Dunno. I could try that again but why bother? I like nourishing my collagen.
C injected into a muscle will be absorbed more slowly.
Perhap that is a key to my improvements.
Maybe when there is a steady supply of C, my body can make better use of it. And maybe this compensates some for whatever my genetic error is.
Becoming less flexible was my dream. Since I still utterly flunk the beighton, the name of my blog is ironic.
I’ll write more about what I am doing with C next year.
Until then, Happy New Year.
Thanks Norris Lab!