I have rare disease, and I’m not sorry.

It’s rare disease day. I’ve talked about it for years, and while I believe I have taught some people a few things, I don’t see any evidence that it matters so I'd rather be shot than go though another rare disease day.

People lack self-awareness and empathy. All my life, they have acted like the struggle of chronic patients is a personal attack on them and their idealism. It’s prejudice, nothing more, nothing better. They’re just plain prejudiced against the sick and poor, and are ashamed they are forced to encounter someone they can’t fix or control. I don’t care how the hell they were raised or trained; it’s a moral failure that I will never accept or respect.

Pain outweighs everything else in my existence. When it finally ends and I am permanently at rest, I will be better off. I don’t care how stupid that sounds.

I don’t care. My new year resolution is to stop caring so much. If you are embarrassed that I learned how to publicly advocate for myself to stay alive, tough luck. If you think I’m “negative” for battling serious illnesses and talking about it, leave and never come back. If you’re a user or abuser who is part of the problem, die.

I have rare disease. My life is ruined by it. I’m angry about that and at all of the people who failed me. I have every right to be, and I’m not sorry.

Internal Medicine and Genetic Reports

These photos may upload badly, but let's see.

The genomics lab sent me reports on certain conditions in which I am considered high risk. I printed them out and gave them to Dr. B yesterday, along with my raw data for Periodic Paralysis (previous blog post). He accepted it all with interest, recognized the validity of the gene.iobio database, and promised to upload the reports to my chart. We also discussed a high impact variant I am showing in gene COL6A3, which is Collagen IV Alpha III Myopathy. He agreed to ask his staff to try to find a Rheumatologist who accepts Medicaid. I won't hold my breath, but I appreciate the effort. COL6A3 is a disorder where the collagen which surrounds muscle cells is broken. This would explain some of my symptoms if I can get a clinical consult to address it. Considering many people in my support groups have both Periodic Paralysis and a collagen disorder (in many cases, it is diagnosed as Ehlers-Danlos), my chances of having both are pretty high, in my opinion.

I want to make clear the reports below are not a diagnosis. They show mutations in my DNA that support a higher than average probability of having or developing the condition.

Next year, I will likely have another Echocardiogram and my first Mammogram, if insurance OKs it.

I also expressed to Dr. B how much pain I'm in all the time. He prescribed a pain medication for temporary use, and Medicaid denied it. It's unfair that someone as ill as I am, with no history of addiction, is being refused a temporary script for pain. Insurance companies insist on demonizing opioids, and I understand to some extent why they are cautious, but patients with serious and painful chronic conditions are being discriminated against to the point that they are dying by suicide. I don't plan to be one of them, but I'm also not making any promises. I shouldn't be debilitated, sometimes vomiting from the pain, and refused treatment because some rando who doesn't know me is paranoid that I'll become a law-breaking addict. It's outrageous. This country is unbelievably cruel.

That is all I have to say for now. I will return soon.

Another HKPP Loss

Chovan Vic Cacho Banate founded the HKPP Network in the Philippines region. In the first week of May, he experienced a trigger which dropped his potassium critically low. He contacted the U.S. HKPP Network (my friend Ralph) and they spoke briefly about his symptoms, which had escalated into labored breathing. According to one of his friends from the Philippines HKPP network, he was taken to the emergency room in respiratory distress, where he was ignored while the staff was screening potential COVID-19 patients. He died of respiratory failure at age 35.

I don't know what to say anymore. When are we going to be taken seriously by emergency medical staff? Why would we be there asking for help if we weren't desperate for it? These travesties are breaking my brain and my spirit. It's 2020, Hypokalemic Periodic Paralysis has been documented since the 70s, and here we are. Another friend, neighbor, uncle, son, brother, advocate...gone for no reason.

The hospital is 100% at fault for this man's death, and they will never be held accountable. Tell me where the hope is in that?

Rest in peace, sir. I'm so sorry this world failed you.

April in the time of COVID-19

I modified a popular April Fools meme.

Gotta have a laugh sometimes.

I'm guessing everyone else in the U.S. received this too?

Basically.

In all seriousness, I do (to quote the internet) "Stay The F Home" most of the time, and I have masks in the event that I need to go to the grocery store for something. I'm trying to use everything in my freezer and pantry before stocking up again. I ordered a variety of fish from Sizzlefish, which arrives tomorrow, so I'll be good for a couple of weeks. I'll give a review of their service soon.

I also ordered cashew milk from Elmhurst (dot com).

It's expensive, but I'm happy with it. I'm trying to buy less milk.

I sound like a broken record, but the diet is rocky.

My digestive system is a beast, 

and it's hard to have any hope of it improving.

Some days, I do try to eat like a normal person.

Some days are still like this.

In other news, I forgot to mention that I achieved

my goal on Pokemon GO a month ago.

Thanks to all who helped with this distraction.

I went to Jackson a year ago today, to see my Nephrologist. It was a bad drive. I was sick on the way up there, and got rained on, and by the time I arrived I looked and felt a mess. The appointment didn't go well, although everyone was kind. I felt defeated, and wished I hadn't gone. Then I received an outrageous bill for labs, I argued with the billing department, and I haven't been back since. I miss having a doctor who wants to help me, or at least acted like it. He was nice, and despite the fact that I wanted to know more about him (which is irrelevant), realistically I just need my doctor. He's no longer accessible since the facility doesn't care about out-of-state patients who don't have Mississippi insurance. That's not his fault, nor is it mine. It's just the way our terrible system is here in the U.S. People with rare diseases suffer not only from their conditions, but from a lack of adequate care unless they get lucky enough to find someone in their neighborhood who wants to treat them. Those of us who are poor and rural and have volatile chronic diseases are royally screwed.

It's hard to have any hope. All I can do is strive to survive, one day at a time.

I hope everyone is doing ok in the midst of this worldwide tragedy. Laugh, cry, do whatever you have to do to cope, as long as you're not putting anyone at risk. Be mindful, "Stay The F Home" if you can, and if you can't, I wish you and yours utmost safety.

This will pass.

These books are important.

This has been my life since childhood.

I was neglected, falsely accused, mocked, shunned, misdiagnosed, abused, and refused treatment because I was a woman who hadn't achieved my doctors' sexist ideals.

I suffered greatly. The damage was done and is now irreversible.

This is my story and countless others'.

https://www.nytimes.com/2018/03/13/books/review-doing-harm-maya-dusenbery-ask-me-about-my-uterus-abby-norman-invisible-michele-lent-hirsch.html

People love to victim-blame and make ableist statements in an attempt to discount someone's injustice, especially in regards to their health, safety, and quality of life. The fact of the matter is, this is my truth, and nothing you say will make it not true. My one life, the only one I will ever have, has been permanently impaired by a patriarchal society.

You don't get to tell me how to feel about that, no matter who you are.

I hope women will continue to speak out. It may be too late for many of us, but, God willing, future generations of women will benefit from our horror stories as some doctors learn how to treat them with the respect and care they deserve.

A Grumpy November Update

NaNoWriMo was a mistake. I've been writing about my life, and it couldn't be more dreadful. I hate everything. I want to end NaNo now (wanted to by the 8th, truth be told), but I'm going to push through to the end. Some of the content is worth keeping. Some of it sucks. Either way, I'm bored out of my mind, and often depressed. Blogging usually helps, but lately, I don't even want to do that.

Exhaustion and chronic pain are the underlying issue, I realize. It brings me to tears lately, and I'm not usually a crier where that is concerned. I also went to the doc last week, and I'm so frustrated with their negligence I want to throw all of my medication in the trash and say to hell with staying alive. I know I need to stop letting them get to me that badly, but I'm forced to rely on people who are unreachable and unconcerned with the fact that my condition declines every time they ignore and/or screw up my medication paperwork. I end up temporarily losing an expensive medication from my regimen because insurance denies coverage, and I have to wait a week or two or five for it to be corrected. So I'm on a med, then off of it, then on it again, then off of it again, etc. every few months. It's not safe, but I'm made to feel bad for getting mad and making them address it because they're busy. I know that, and I've never once implied that I'm their only patient. I just need people to get this right because they are directly affecting my muscle strength. The alternative is to stop the medication altogether and suffer. That's obviously the wrong answer.

But I don't have the right answer, either. And I'm so freaking tired of this.

I am physically stronger on the medication, but the frequent stress on my body and mind over consistently obtaining it is making me wish all of this would be over. I'm as calm as always on the outside, but internally, I'm not coping. I think about dying too much; both wanting and not wanting to do it.

I watched more footage of the HKPP conference in Dublin, and couldn't wrap my brain around all of the new info. My cognition isn't in the best shape. I am no good at this, or to anyone anymore. I would probably benefit from a companion to help me sort out things sometimes, but who would want to deal with all of this, or with me at all? I don't even want to deal with me, and it angers and upsets me that I feel like wanting anybody to do anything for me. I'm a mess.

There is not enough sleep on this planet, but I'm going to try to achieve some. I've reached out to some friends in Mississippi, and I'm going to drive over there for a get-together tomorrow night. May it be a remedy for my dying sanity, or at least a band-aid. I'll take anything.

Internal Medicine Clinic June 2018 (TMI warning)

I saw Dr. B on the 19th. The office failed to put me on the schedule in spite of giving me an appointment card, so I had to show that to be seen. I won't even get started on their issues. I'm grateful for whatever help I can get.

I had the usual blood work, and my potassium level was where it often is - 4.0. As has been the case for years, I remain in a weakened state in spite of normal potassium levels.

We mostly discussed my gastroparesis. I thankfully haven't been in the ER again since May, but still dealing with nausea as well as a lot of pain everywhere including my torso, lower abdomen, backside, bladder, and everything in between if you know what I mean. It all never stops hurting. My body is super irritated. He did check me for bladder infection, and it was negative.

I am also in tachycardia, and experiencing lightheadedness, shortness of breath, and a decline in equilibrium. I had one of these episodes upon entering my room, and they stopped what they were doing to recheck my blood pressure and heart rate. BP was perfect, as it usually is (Irbesartan is the real MVP), and heart rate was 124. Where my digestion is concerned, since ditching the high protein/fat diet, the majority of the paralysis appears to be in my colon at this point. I've learned that this is frequently referred to as Intestinal Motility Disorder. It is probably related to my Muscular Dystrophy, however, I question the possibility of Dysautonomia and POTS and it is something I hope to talk to someone about at some point. My heart rate goes up for no good reason. All I have to do is turn over in bed or get up out of a chair and my HR jumps. I've worn heart monitors several times that confirmed this, but I've never been diagnosed with POTS for some reason. POTS can cause Dysautonomia, and Dysautonomia can cause Gastroparesis. I know Periodic Paralysis patients who have Dysautonomia, so that's notable as well. Dr. B said he wanted to refer me to the local university hospital's gastroenterology department to discuss it further. I'm waiting on that referral now. He decided to give me samples of another medication, Trulance, to try to force my lower digestive tract to do its thing. And boy, is it. Far, far too much. I'm losing weight again in spite of eating, and as I've already mentioned, I'm in constant pain (I already deal with constant pain in my muscles, but this is a different kind of pain).

So now what? Dr. B said if the new medication is a problem, just switch back to the previous one, Linzess. That one, as I wrote in May, is also harsh on my digestive tract, but it's the lesser of the two evils, I think. I'll start back on that one tomorrow. Other than that, I have to take this one day at a time and wait for the referral.

Dr. B wants to see me again in a few weeks to check on me. His office frustrates me to no end with their frequent careless mistakes, but he has a very high volume of patients due to being so fatherly. Imagine James Earl Jones with a funny, honest bedside manner. I've thanked him countless times for all the help he's been to me in spite of how difficult I am, and he always says he enjoys knowing me. I think if more physicians treated their patients like friends, the overall morale of medical care in this country would change. Something to think about.

Not how I planned to spend my birthday week.

I spent the night under observation after a horrendous day with Gastroparesis. I had a contrast CT, blood work, and referrals back to Primary and Gastro physicians.

I'm home and pretty much camped out in the bathroom until this purging episode decides to resolve. They gave me some fluids to combat dehydration, and a shot of Bentyl to try to calm my stomach muscles, but this remains an ongoing situation for now. I'll get a three-day script for Zofran filled sometime today, which will hopefully make a difference.

Thinking forward, it looks like I was on the right track with a liquid/soft diet, but I made the mistake of trying solid food again, which caused a lot of problems. I may have to permanently halt the Muscular Dystrophy diet and switch solely to a Gastro diet to try to manage this, and just hope my HKPP doesn't get worse as a result. As I mentioned a few years ago, the usual prescribed medication, Reglan, is a major no-go due to triggering serious periodic paralysis complete with respiratory distress. So I'm sort of up a creek without a paddle, as I am with a lot of conditions that I live with.

My late MawMaw used to have a fun cup holder that said "THIS IS NOT THE LIFE I ORDERED".

I could not possibly concur more.

Things are bad at the moment.

I'm not going to go into major medical detail right now, but I have had a pretty bad episode, and I have been bedridden for several days. The pain was a 10 on the pain scale for a little while, as heard by my screaming and probably scaring the neighbors (hopefully they didn't hear me, but that's unlikely). I had my thumb on the button to call for an ambulance for a few hours, but I didn't go through with it.

I am, however, having to sedate myself to escape the extreme muscle pain I'm in. Most of my episodes are paralytic in nature, but sometimes my body surprises me with an episode of myotonia. This is what happened, which nearly resulted in passing out because of the location of the muscle; a vertical muscle running down the back of my head, neck, and shoulder blade. I haven't been able to turn my head since late night Friday. As of this morning, I can turn it about an inch. I have been successful in shuffling across the hall to the bathroom, and to pour water to take pills. Swallowing pills has been a battle...I'm amazed how challenging that is when you can't move your head at all. At any rate, I eventually get them down. Otherwise, I'm in a crumpled pile of agony on my bed, alternating between lying on an ice pack and a heating pad.

This episode is in addition to the bout of gastroparesis that was already making me sick. Gastroparesis is digestive paralysis, caused by a number of conditions. In my case, I assume, it's a result of muscular dystrophy (primary periodic paralysis, if you're new here). I ate a few pretzel chips yesterday. I'm drinking protein drinks today. That's all I've been able to do. My digestive system is a huge issue, and sometimes I think it's going to kill me way before MD does.

The medications I am currently on to deal with all of the above are making my body weaker (as I have complained about in previous posts...most medications aren't very safe for MD patients), but it's either take the meds right now and hope for the best, or find someone to put a bullet in my head. That's where I'm at. I'm being as cautious as I can, and it is a well-proven fact that I am safer at home than in a hospital subjected to protocols that don't acknowledge the risks of my rare disease.

In summary, some parts of my body are contracting too much, and some aren't contracting enough. If you know anything about that, you know that means absolute disaster. Thanks for thoughts or prayers or whatever it is that you do. I don't know when I'll be back, but I'll be back.

NOTHING.

The fact that there are people out there who think they have the answer to my ailments, and that I am simply choosing not to comply - as if systemic disease is curable with your magic potions and notions - but for some insane reason I would rather be seriously ill, in severe pain, and debilitated every day of my life - is maddening beyond words.

Go take several seats. You know nothing.

Internal Medicine and Social Drama

Today, I had my last Internal Medicine clinic until January. It was thankfully undramatic. This has been a long year of tests and symptoms and medication changes, but I'm feeling somewhat optimistic.

My gastric study looked ok, which is good news since the only emptying drug on the market, Reglan, triggers serious paralytic episodes. Feel free to dig through my HKPP blog for that drama. The ending diagnosis is Gastroparesis. I also have GERD, but that has been known for decades.

As for my potassium level, raising my dosage to a whopping 200 mEq max a day helped a great deal. My level rose an entire point to 4.7, which was our exact goal. Yay! Ideally, it would be best for me to be in the low 5s, but I'll take what I can get. Dr. B was super glad about that.

My phosphorus lab had to be sent off. I'll post the result here when I receive it. Dr. B said if it's normal, that puts me in a good place despite my apparent chronic kidney disease. The CKD will be monitored, but there's really nothing they can do for me. It's chronic, not acute, therefore there is no cure. It's something I've known for years.

I declined the social worker for a few reasons. I received many calls, which I missed, and eventually called them back. The lady said that I had accepted services on such-and-such date and that she was trying to set up an appointment to come to my house. I told her that not only did I not accept services yet, I had never even spoken to her before and didn't know who she was. She said it was in her computer that we had talked on that day and I said yes. I told her again that wasn't true. We went back and forth on this error, and she eventually said "sorry" and gave me my case manager's phone number. What case? Exactly.

Anyway, she explained that the case manager's job is to come to my place to talk about their services, ask questions (from a checklist that I hate...I'll address that another day), and check on me regularly. I told her that I would save the lady's number and call her if or when I was ready to discuss. I hung up and called my insurance to make sure they didn't receive a bill for services that I didn't accept or receive. They hadn't, thankfully, but I'm glad I checked. The fact that she said we spoke on that day and that I signed up when I definitely had not done so yet was concerning. I actually still have the missed call and voicemail saved in my phone as proof.

As I said, I told her I would call when I was ready to discuss their services. Within two days, I began receiving calls from the case manager asking if it was ok to come over to my place to ask some questions. I let it go to voicemail every time, and she gave up by the 3rd or 4th call. I concluded once again that people don't listen to me, and they don't respect my boundaries. Story of my life.

I'm not ok with someone knocking on my door unannounced on a weekly basis to ask me generic questions that don't apply to someone with a terminal illness, and that's what was going to happen. I had a social worker in 2014, and that's what she did. I eventually stopped answering the door. I would have done the same this time. I am fine with going somewhere and talking to someone - social worker, therapist, doctor - but I am not ok with them coming here, and especially popping in to check on me uninvited. As an introvert with anxiety, that derails me, and I have no problem admitting that. I spent the first 36 years of my life being denied boundaries. I'm not about to give them up now.

If I extend a specific invitation to you, or if I tell you that you are welcome here, then you definitely are. I don't want any of my friends or family to think otherwise or feel too intimidated to spend time with me. I wouldn't have set up gaming and art tables in my living room if it was a problem. For your consideration: I get very little sleep, and when I do sleep, it's at odd times. Nothing makes me want to melt down more than finally falling asleep, and being awakened by a knock on the door, a ringing phone, or a loud neighbor. One of my biggest issues every day is that I'm so exhausted, I can't seem to process things in a timely manner (brain fog). I draw a blank when dealing with someone. I really don't feel cut out for living, and I need a lot more sleep. I unravel quickly because I'm too tired and I want the world to stop waking me up, judging me, giving me a hard time about petty things like grammar (for the love of god, find something better to do), comparing my problems to theirs or others' (this is not a competition), making assumptions, or trying to fix me, and just be a friend. I'm the first one to say I'm not a pro at managing this turbulent way of life, but I'm trying. I appreciate those who have been patient and kind, and I thank you sincerely for understanding, or at least attempting to.