• Momilosopher

Me, Myself & Pain

It is easier to find men who will volunteer to die, than to find those who are willing to endure pain with patience. ~ Julius Caesar

A little tidbit about me, every day, I wake up a daughter, a mother, a wife... and a companion to my ride-along, Mr. Pain. He's always with me, in some form or another.

He wasn't always with me. I remember being a child and running wild and free, climbing fences, flying across the sky when the tire swing broke and I hit the side of the house... ah, good times.

But as I aged and injuries stacked up, healing slowed down and those little aches and pains stopped going away. The knees started grinding and aching. The ankles started popping regularly. The back started hurting constantly.

Here I am with a long list of diagnosis, or is it diagnosees? I've got Idiopathic Neuropathy in my feet and lower legs. I've got a faulty left hip joint. I've got arthritis. I've got swollen and achy joints. I've got trigeminal neuralgia, I've had bell's palsy. I have carpal tunnel just about everywhere. I've got degenerative disc disease. I've got chronic migraines (of just about every type you can get)... so they just label all mine "abnormal" :) yay me. Most recently they decided to just slap good ole Fibromyalgia on me.

The thing is, we do have a connective tissue disorder in the family. Between 25 to 30 years ago, my brother was diagnosed with Marfan's by a bone doctor, I forget their prefixpedic. When my oldest child was a few years old, she was long and flexible and I noticed her movements reminded me of my brother. Especially the way she'd sit and sleep, so I took her to a Geneticist at a Children's hospital. She was diagnosed with Ehlers Danlos, Type 3. The geneticist that examined my daughter said the family couldn't have two different connective tissue disorders so whoever examined my brother was wrong and our family had EDS, AND, the type of gene it was and if my brother had it and my daughter had it, then likely most of us had it, just that it presented differently depending on who was the carrier. Whatever, I swear if this was a few hundred years ago, we'd all just be dead. Survival of the fittest, we are not.

My mom is a cancer survivor, has diabetes, has fibro, has neuropathy, has RA, has hoshimoto's, and a dozen other things I can't recall. Recently my brother has taken a turn for the worst, he's younger than me. He had a hemorraghic stroke, he threw up, went to the ER (they made him wait for 12 hours) when they finally examined him, he had three different bleeds in his brain. A month or two after getting out of ICU, he's back with a partially deflated lung.

He recently went to a geneticist for new tests, and the Marfan's and EDS indicators that the test tested for (nice and clean, I know, I've had my muscle relaxers so I'm thinking REALLY clearly here) didn't pop positive. Apparently, not all of them show up, so even though they don't show as positive, they can still be positive. I'm so glad I'm not a geneticist, how confusing is that?

Anyway, a couple of the things that did show up in the test, is that my brother has a gene variant of uncertain significance and it's a dominant gene. Apparently there is one gene that is abnormal and one gene is mutated. The are definitely related to the connective tissue which can affect joints, bones, basically, all the things that my mother, my brother, myself... where we suffer from.

The geneticists actually want the whole immediately family to undertake the exam so they can collect and compare the samples as the results they received from my brother are not very common, yay us. I saw in one of the little blurbs that it seems to be more common in those of European descent. We definitely meet that, Ancestry says we are over 70% from that area historically speaking.

What does this actually mean, circling back to my point. Perhaps the pain that I live with does come from a common point that is shared in my family. Maybe there is a source that we can investigate and understand. Maybe with that investigation we can find a better plan of care that will aid us in finding just a little bit more peace in our day-to-day lives. Maybe we can have some days free from Mr. Pain.

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