Genetic testing! Zebra results soon

Well, I’m finally getting tested for ehlers-danlos! Excited to know if that’s the cause of my Zebra self. My genetic counselor is also running another type of panel on me. He said my symptoms remind him of….Dystonia.  F*ck. (scuse my language). I had run into that word before and felt it was reminiscent but wasn’t fully on board due to the literature not quite matching up with my symptoms. So I joined a Facebook group for patient experiences and sure as shit, it fits. My son is also showing those same signs. (disgruntled angry mom about this).

Those crazy vibrations? Well, it seems common in this group. My muscles are also pretty tight for being on bed rest most of the day. I should have atrophy, I don’t. Guess those vibrations are keeping my muscles from completely relaxing so I’m exercising without intent, so it seems. I’m really nervous about this one as reading about it sucks. I don’t think there is any family history of this. It also might not show in my genes so if it doesn’t, off to a movement disorder specialist to get checked out. Knowing that my son is exhibiting the same signs, I feel strongly, it’s in my genes.

I got my periodic paralysis panel back and they found a VUS. Variant of Unknown significance. Typically they don’t allow free family testing for a VUS but they are studying this condition and since the frequency was non-existent, they are testing my family. My genetic counselor said the lower the frequency, the higher the odds for a pathogenic mutation. Makes sense.

So maybe soon, I’ll have answers as to why my body has fallen apart and why I am not so normal. Maybe the physical aspect of the military along with the exposures caused it to express? I never had signs of anything during my childhood. Then maybe the constant physical therapy kept triggering it? I guess that part doesn’t make sense as obviously it was triggered to cause physical therapy. Still learning. Still wanting to know WHY I was so healthy before I joined the military and yet so ill upon leaving it. Why!? No one else in my family seems to suffer like I do. They’re all healthy in my direct family line. Vaccine reactions to the onslaught of toxic goo given to me all at once? My body doesn’t process things normally. Anthrax vaccine? Some mystery experiment done on me?

I have so many medical conditions it makes my head spin. It’s also extremely embarrassing to list them all.  ME/CFS, Fibro, Migraines, tension headaches, IC, UC, IBS, POTS, autonomic issues, mild emphysema, possible HKPP (I’m almost certain I have this), and others…

The wait sucks. I’m waiting. Will update…. soon(?).

The feeling of dying..

I’ve been dying for about a year now, at least I’ve felt it since then. I have a lot of health issues and developed an odd vibratory sensation back in 2015. At it’s strongest, it can be felt by others on my legs. I feel it everywhere though, lightly in my upper body but it’s like I’m hooked up to an electrical current and all my muscle cells are dancing. It was interesting at first, then a bit annoying, now it’s an awful feeling that not one doctor has been able to explain. It may be dystonia. I’m still waiting on genetic testing..

On a flight home from Texas in 2018, I felt a lump in my left thigh area. It was a swollen gland. I went to my doctor after if it didn’t go away and she said it was probably due to a small shaving nick she saw on my leg. I knew it wasn’t. I waited the two weeks and informed her that not only did it not go away, but others had enlarged in my groin area. My blood work was perfect so I was sent home. Looking back, I had a slight fever at the appointment.

I started dropping weight. At least I noticed I had lost a little weight but it kept on dropping until I eventually went from nearly 140 down to 108 at my lowest. The doctor then blamed the swollen glands on my weight loss. Keep in mind, I noticed the gland before the weight loss and they only enlarged more. I lost my appetite and felt full quickly. I was bloated and gassy. Eventually after arguing with my doctor, I was finally sent to hematology oncology. My brother has leukemia and my uncle had just died of it a few years before. It runs in my family. I also had an enlarged bartholin gland on my right side after having the left removed in 2017. The right had never bothered me before.

I developed pain in my lower left abdomen and she sent me to a gyn oncologist. He found a complex cyst and told me to come back in a few months to evaluate. He wasn’t concerned about all my symptoms. He said everything looked good. I felt in my heart I had cancer. Maybe ovarian cancer? He dismissed me. It couldn’t be that. I’m young.

Hematology doc was nice and listened to me. Unfortunately, because my blood work is normal, there wasn’t much he could do. In addition, prior (2) MRI’s showed bone and bone marrow inflammation in my hips and femur neck with progression. My palliate care team wanted a biopsy of the lymph nodes next time I went into surgery. But I have no surgery scheduled. The gyn said he could removed the bartholin gland if I’d like and do exploratory for endometriosis since I had some symptoms of it but he wasn’t concerned. He’d remove a gland for them as well. His laissez-faire response had no urgency, and assured me it wasn’t cancer, even when I pointed out the darker patches of skin on my vulva. So I left in frustration. The cancer has to be somewhere. I also noticed most of 2018 doctor visits had a low grade fever. But no one mentioned this to me…

My CT scan did show some scattered nodes in my lungs. One in a suspicious location. The pulmonologist is great. He will be doing a follow up in 6 to 9 months to see if any grow. He took me seriously and treated me respectfully. An incidental finding on a bone scan had shown a bright white spot on my lower LEFT (not right) abdomen. They had no idea what it was and determined it had to be a bladder diverticulm barely seen on prior MRI. So I went to urology. I let her know and she was adement it was not my bladder as that would have been seen on prior scope (2017). She was certain I needed to see GYN.

I went back to GYN and also showed a lump I found in my breast. He thought it was a weird part of my breast implant. He again dismissed my symptoms and said basically to relax. So I went back to urology after feeling tubes inside me burn intermittently when I urinated. I felt it worse at night and it was quite painful. I thought it was either bladder tubes or my Fallopian tubes. My urologist once again said, It’s NOT my bladder and that I NEED to see GYN. So she sent me to someone else. The referral came in quickly and I saw a new Doctor. He was great! He listened. He asked a bunch of questions that my oncologist never asked me. He asked about cancer history. He asked about my children, my sex life, ect. I told him how I’m estrogen dominant and have almost 0 progesterone and testosterone. I had just found that out due to my pain management doctor looking to add hormones to help with my pain. Well, shit, estrogen dominance can cause cancer.  I also started developing really bad leg pains that radiate down the back of my legs, sometimes the front. I have had hip pain for 4 years (damn bone inflammation of unknown origin and not one doctor treating me for that), but the leg pains like this are new as of 2019.

My exam revealed a grade 1 prolapse of my uterus. That sucks. It also revealed a thickened uterus with watery fluid, was very painful and irritated. He didn’t even take a swab was immediately scheduled me for exploratory surgery. I read about uterine cancer and the symptoms of that. It makes sense. But why of all people, would a GYN ONCOLOGIST NOT think of this??!!!  How could he dismiss me with all my symptoms going on?! My new doc is retiring so his colleague will do the surgery. I want my uterus out. I assume the prolapse will continue to get worse and sex already hurts so be gone! I might ask to have my left ovary removed as well since I have had pain in my lower left side and cysts there. Just to be safe. I feel like I’m dying. I’m just hoping it’s not too late…

Or maybe, I’m just a hypochondriac…. They sure make me feel that way sometimes.