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.

My Letter About Opioids

I was once physically active. I was in the military ready to fight for our country and give my life if need be. But I got sick. I’ve been sick since service and getting steadily worse over the last 19 years. The last 5 years have been brutal on me. My life was taken too young. I’m too young to have a handicap plate, says one doctor. I’m too young to have a wheelchair, I’m too young!! Well, disease doesn’t discriminate. Here I am watching my children lose their mother. All the activities I did for my son, I can not do for my daughter. “I want my momma back” says my daughter. She misses our play time, my attention, my cuddles. Don’t touch me, it hurts. I can’t go, I have a migraine. I’m sorry I didn’t cook dinner…again… I have lassitude and standing hurts. I’m sorry we can’t go, I can’t walk and it’s not wheelchair accessible. I’m sorry I can’t play that game with you, I have sensory issues right now and am in a flare up. I’m sorry I can’t take my son to all his special needs appointments, my driving is being hindered and my body is in too much pain to leave the house. I lay here, my upper body not wanting to support me being upright. My frame is a skeleton as my muscles atrophy and my weight is gone. I get partial paralysis when the temperatures drop so I can’t move real well. I live for every few hours when I can take that little pill to allow me to move for two more hours. I have come to rely upon that pill to get on my feet. I still can’t walk far or stand long, but I can do a little bit with that little pill. Imagine what I can do if I had a dose strong enough to knock back most of my pain. Imagine having a bit of my life back again so I can be there for my children and keep them out of trouble, giving them the attention they need as a parent. I don’t know what my future holds or how long I will live to see my kids grow up, but I would like to. I would like to without the pain that cripples me because I’m undermedicated. I have a high metabolism and a high starting tolerance. It’s just how my body was made. I’ve exhausted other resources and opioids work and work well for me. I don’t get high. I don’t get euphoric or even sleepy. I don’t understand how others can abuse them as they do nothing to my mind, only relieve the pain either a little or a lot depending on how much I’m given. I’m tired of being treated like a criminal or druggy for needing a med to survive just like a diabetic who is dependent upon insulin. I need my benzo to sleep as I’ve tried all the others and a safe alternative made me stop breathing. My body is different than others. My benzo stops the muscles that tighten and spasm and cause dystonia like symptoms. It’s the only thing that works as muscle relaxers have no effect on me. I don’t know why. It’s just how I’m made. I’ve taken them safely for years. I don’t take them at the same time and I’m smart with my meds. It’s my body and my right, right? When did others acquire the right to make medical decisions about MY body?
Here it is in a nut shell, I would be more than happy to sign whatever form giving consent to increase my meds to a dosage high enough to combat the pain and give me a quality of living risking death any day. I would rather have some semblance of a life and risk dying from my meds than to live here in agony and risk dying from being unable to tolerate the pain anymore. Where does that leave my kids? My family? I’m the glue that holds them together. I’m in palliate care though see a typical pain management center and yet I still don’t get enough meds to function. I’m not going to ever get better and I’m now watching my own child deal with my pain as it passed down to him as well. He’s a teenager. He’s tried tylenol and NSAIDS (He’s lucky he doesn’t have my mutation that doesn’t process NSAIDS), but they don’t work for his pain. I’m so scared for him. Will he ever get the opportunity to use what has worked so well for me at the right dose? He already doesn’t want to live. He lives for me right now. I can’t imagine what will happen to him when I’m gone. He has no hope for his future and I’m losing hope for mine.
Do you want a productive society? Truly? Like any meds there are risks. Like any med there are benefits. I should have the right to chose what I put into my body and stick with what works and use the appropriate amount for MY body to be productive, to give back, to help society rather than lay here crippled and watch my family fall apart because someone without chronic pain decided they wanted to make my medical decisions for me. I’ll take death and pain relief over this hell my life has become. I’m a veteran and I’m suffering and now my child is is suffering as well. Cannabis might be an option for some, but it is not an option for me. It should be legal for those it does help, but I chose my current med as I don’t get high and it really truly works when at the right dosage. I chose life. For now.

Fighting To Be Believed

One of the hardest things a person can go through, is having to fight to be believed by the medical community for whatever it is you suffer. It’s absolutely shocking how many stories I’ve read where Doctors or nurses yell at their patients, telling them to get up when they can’t walk, or flat out disbelieve the plea being made. It’s even worse when you have family or friends who do the same. I can not, for the life of me, figure out why anyone would ever fake an illness. Who WANTS to be sick? Who WANTS to give up their lives and lay there staring at the walls and be completely unproductive? I sure an hell don’t. In fact, it’s one of my biggest frustrations. I WANT to….. do so many things…. but my body betrays me.

The family and medical communities betrayal is absolutely the worst thing to experience during a time when your plate is full enough with all the disabilities your body is going through. There is absolutely NO justification for it. None at all. Zilch. It is NOT ok. Having invisible illnesses suck on the highest level since we look so normal but we’re far from it. Should I cut my arms in neat little slices to give a visible sign as to the pain I suffer? Learning to let go of it is easier said than done.  And with doctors working FOR US, they really aught to remember that and start taking us seriously. I’m glad I have some doctors that do, but they still think along the lines of ‘we’re all horses’ even though a Zebra stands before them.

I think that’s why some of us jump with glee when we finally have physical proof, such as genetic testing, or some other kind of sign that SHOWS we truly are ill. It also makes some of us want to go back and hit them all upside the head with the paperwork. I know I want to, to smack them in the face with what they failed to consider, or believe, or treat. With many more of us having those rare or uncommon illnesses and diseases, we need to retrain our medical community to start looking into them.  We also need an overhaul of the medical community from the top down. They’re failing their patients.

We should also have more attention brought to the public about how invisible illnesses work and affect us. Awareness of how normal we can look but how badly we can suffer. Maybe then, family will start opening their eyes to the truth and stop looking down their noses and gossiping about how ‘well we look’ and how we must be faking or looking for some kind of attention. It’s simply insulting.

And while I’m at it, please don’t cry to me about your fatigue or your painful hangnail. Most don’t know what true fatigue or chronic pain feels like. And yes, chronic pain patients handle pain differently. Our bodies become use to high levels of pain and learn to function as best as we can. So if we tell you our pain is an 8 while using our phones to read or get on Facebook, yup, we can do that and still be telling the truth. We handle our pain with grace as we suffer it daily and learn our own accommodations to survive.  Some days we might simply be done with it all and just lay there, resting our bodies and recuperating. No, that doesn’t mean we’re lazy. Far from it. Our batteries are drained and we’re recharging them.

I’ve had completely normal vital signs while suffering severe pain. I feel like my body betrays me when this happens as doctors and nurses seemed trained to believe that you have to have abnormal stats in order to be in pain. They need to go through classes on chronic pain and what that looks like. Apparently to doctors and nurses, it simply looks like drug seeking and yet, that is very far from the truth..  Believe your patients peoples! I’d rather give a drug seeker care and attention than to treat a chronic pain patient with suspicion and bias. It’s just not fair or just to those who truly suffer.


Mental Illness is not real… My theory

I’m not saying mental illness does not exist, but that it is a physiological process leading to symptoms that involve our mental health. We are new to the study of genes and what our genes tell us. How we express them, what is important, pathogenic, or completely benign. It’s an ever evolving process. But we don’t know them all, not even close.

Looking through my own DNA, there are multiple alleles of concern that can lead to a host of issues by one tiny tiny change in how my body processes exposures or makes a piece of me. That can then lead to differences in my make up that cause other genes to express that might not have otherwise. All of those little changes can lead to differences in my brain, both organic and inorganic. Both environmental and genetic.

For instance, say I have a mutation in the process that alters how I degrade nitrogen and instead causing me to overload on ammonia. The excess ammonia then alters my brain chemistry leading to symptoms that look like a mental health condition, anxiety, mood disorders, ect. In reality, rather than treat someone with an SSRI which adds more chemicals to the body and alters our chemistry, we fix the root of the problem. Maybe one day, Science will catch up and we’ll understand how all our genes work and be able to quickly scan through our data, find where our process has gone haywire, and then correct the problem, allowing us to function normally, once again. Make sense?

It’s sad, the stigma behind mental illness. It is so misunderstood. But remember when MS (Multiple Sclerosis) was hysteria? When Epilepsy was demon possession or psychosis? So many diseases blamed on mental health until one day, the Science caught up to it and a disease was discovered.  I absolutely believe, that one day, we’ll figure out anxiety, mood disorders, bipolar, ect. One day, we’ll discover the root problem as we begin to fix the overloads or underproduction of our own faulty system and discover ‘the mental health’ aspect was fixed in the process. One day, they’ll realize, it’s not all in our heads. It’s in our DNA.

Just my thoughts….