I’m Sorry

I have been overwhelmed.

Slowly things are starting to catch up with me. Some of it is physical. My illness is what it is, but sometimes that is overwhelming as well. What is dragging me down, even more though, is emotional.

This is something that rarely gets discussed because of the stigma associated with it. But depression, grief, anxiety…etc. are all very real problems with any chronic illness. Life, all of a sudden, takes on a quality that seems unbearable.

Pain. Fatigue. Failure…. The inability to keep up with peers who are not sick. The invisibility of the disease which acts as a nasty hidden secret, dragging you back, while making others wonder whether you are lazy. It’s depressing. It’s so very defeating.

I hate that I have to struggle and push myself to the breaking point for things that should be easy.

I really just want to sleep.

I really just want a break.

I really just want to give up….

I will admit that there are times I have prayed that God will end my hardships and take me home.

But I continue to fight and battle each day and do my best. I just wish I felt like it was enough.

I am sorry for being negligent with this blog. I am overwhelmed. I know I’m not alone with this feeling though.

 

The Remote

Having a serious chronic illness is like having a remote which controls your life, whether you pause it, slow it down, stop it… without actually being in possession of that remote. Something else has the remote and you don’t have a say in when it is used and which button is pushed. You are just left dealing with the consequences.

Lately my remote has been messed with and I would very much like for it to stop. Especially sense it came at a time when I was feeling fairly healthy. Almost guiltily healthy (which is a whole other ranting blog-post). But I was doing well. I had gained enough weight that I was starting to try to lose it (again… whole other blog-post). I wasn’t dealing with excruciating pain. I wasn’t fainting.

I was doing well and living a life that was fairly chronic-illness-free.

That’s when the remote came in though, and with seemingly one push of a button, my life stopped running smoothly.

It started slow at first with stomach pain that just wouldn’t go away. I started modifying my diet, eating safer foods, and was at a new, albeit a slightly more  exhausted: stable.

That stability came crashing down around me 5 days ago…or was it 6 days? I’m still having trouble remembering anything from those days. What I do remember is my heart completely going insane, making it impossible to walk very far. Distances that were no problem before, suddenly had me sitting on the sidewalk gasping for breath. I had no idea what I was doing half the time and couldn’t remember what I had done the other half. I still can’t.

I’m finally coming out of it a week later. Feeling exhausted. Feeling pain. But mostly feeling bitter about this invisible remote that can so easily pause my life, slow my life…stop my life?

Chronic illness

Mass Exodus of Doctors

Always, my goal is to try to reduce the amount of doctors I must see and the appointments I have scheduled in order to live as normal of a life as is possible with this disease/disorder. Lately I have been doing very well in meeting this goal.

I lessened the visits to one doctor, my pulmonologist, by calling, canceling the appointment and…uh… not rescheduling a new one. That’s probably not the recommended method of reducing the scheduled doctor visits I have, but it works. Plus, my breathing is fine right now.

In a much more recommended method: I was given the “make an appointment when needed” by my GI doctor. Fortunately, my weight has held steady and I’m not losing massive amounts anymore (granted, this comes with its own existential crisis that most American women face). I still fluctuate between intense stomach pain and nausea at times, but those are manageable with meds (Zofran is my hero) and are not affecting my life too much.

My nephrologist also set me free to decide when/if I need to see her again. I don’t have any explanations for why I waste magnesium and calcium into my urine, but it doesn’t seem to currently be affecting me too much and I’m willing to ignore it for right now. Otherwise, my kidney tests have all been normal. I sometimes still see the brown urine when I extend myself too much, but it’s not been consistent enough for me to bother with testing.

The third doctor who gave me the ‘all-clear’ was the osteoporosis/endocrinologist doctor whom I saw. I had a DEXA scan and while my T score showed osteopenia, my Z score was normal. We are going to follow the Z score for now until I get a bit older. She did recommend a treatment plan to raise my Vit D levels. The lower limit of a normal Vit. D level is 30. Mine was 17 and my doctors want my levels around 25. Having a slightly lower level of Vit. D is beneficial for me due to the wasting of calcium. So I am only taking a small amount of Vit. D supplements. I am hoping that they do have a positive effect on how I feel.

Overall my health has been pretty well behaved lately. I am glad to be able to reduce the amount of doctors I see on a consistent basis and I would be ecstatic if this could be a permanent reduction in appointments. Time will tell.

The only thing that has been steadily grumpy and getting worse is my heart. I’m really not sure what to do about the symptoms I have been having. I have absolutely no desire to increase the dosage of my beta-blocker or to add a calcium channel blocker. I think, in this case, the least unpleasant plan would be to see an electrophysiologist, but I’m not sure I like where that road leads. At least I have until October to decide what to do.

This disease sucks, it really really sucks, but at least I am holding my own against it 🙂

Rare Disease Awareness

Rare Disease Day came and went (in February) and I didn’t write a blogpost. That makes me a pretty bad rare-disease advocate doesn’t it? Oh well, better late than never….

So what does it feel like to have a rare disease?

It’s like I can’t breath. I am going through my day, and all of a sudden something catches me, draws me back, and I’m left gasping.

It’s like I can’t function. I will be living my life normally, when all of a sudden I am reminded that my life is far from normal. Nothing says “abnormal” like wearing a heart monitor to your 8am class.

But most of all? Having a rare disease is like being gagged. I feel constantly silenced. In a society were it is expected that people are always cheerful, optimistic, and ok, while looking on the bright side of things, there is very little empathy for someone who says “well, actually, I’m not doing very well.” There is even less empathy for someone who is not doing well because of a disease that is very rarely known and never heard of.

Admitting to having a rare disease is like admitting that your skin is actually purple. It’s incomprehensible to most people, hard to relate with, and the real tragedy of a rare disease is the fact that even most doctors have never heard of them.

Imagine watching a loved one live and possibly die with a disease that no one knows and that has no treatment.

Imagine the loneliness and sorrow and having to deal with all of the pain on your own.

Because, you see, there are no commercials for a rare disease, no charity walks, no people showing up at your door with a cooked dish…nothing. There is nothing in the way of support with rare diseases.

It really is enough to take your breath away.

 

Urologist: I would like a break now.

When last we met, I went to see a nephrologist, who so thoughtfully sent me to a urologist (Can you read the sarcasm in that? No? I guess I was too subtle).

Sarcasm aside…

The urologist took down my medical history: visible blood in urine 2-3 times a month for about a year now. Made worse when I’m sick or not feeling well. No kidney stones. No UTIs. His conclusion? “We need to rule out a bladder tumor.”

Bladder tumor? What? Huh? You get that I’m only 26 right?

“It would be rare in someone your age, but it’s still a possibility that we need to rule out.”

Well crap.

So he decided that I need a CT scan and a cystoscopy. The CT scan is supposed to check from my kidneys to my bladder to see if there is anything there that could be causing the bloody urine. I was hoping that the CT scan would get me out of a cystoscopy. But no such luck. I did the scan and get an email a day later saying that the scan was normal (Seriously, not even a kidney stone…) and that I needed the cystoscopy to fully evaluate my bladder for a tumor.

*wipes tears off keyboard and continues writing*

I am not looking forward to a cystoscopy… anything that involves shoving a camera up my urethra (or what I juvenilely refer to as”my pee hole”) is not a happy thing in my book. But, at this point, I just want to know what is causing the visible blood. I really do hope it’s not a tumor though.

In other chronic-illness-news… I have a colonoscopy tomorrow. Yay! Here’s to Scope Month! Joy!

 

The “Law of Medical Tests” Part II

In the past I have talked about the Law of Medical Tests. This law (which may only pertain to me) states that in any given number of medical tests, one will be abnormal. All too often, it will be a completely random one that can’t really be explained by my having Loeys-Dietz.

So what was this round of normal/abnormal tests you may ask?

Well, like last time, this started with a nephrology appointment. The nephrologist ordered a round of testing before I even saw her. Most of it was routine and was normal. Including the thyroid tests (Stop testing my thyroid!). My vitamin D, however, was low. I already knew that the levels weren’t where they should be. I’ve had that test before and it was low then too. This really isn’t uncommon and probably half the people who are tested will show low Vit. D levels. The problem with this result, however is how far it dropped. Last time, my result was 29 with the lower limit being 30. I wasn’t concerned with it being only one point out of range. Plus, it’s not a problem till it gets below 20 anyway. This time though it was 17. Well… I guess that’s a problem now huh?

I think I’ll just ignore it till my appointment at the Bone Metabolism Clinic in June.

But at any rate, that should have fulfilled the Law right? That’s my abnormal test result right?

Right?!

Nope.

I also had to do a 24 hour urine test which measured different electrolyte levels in my urine. Now, for anyone who’s ever done this test, you know that it sucks. Really sucks. Like really really sucks.

I had a jug of my own urine in my fridge.

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This is what nightmares are made of…

I was especially frustrated with this test because I was fairly certain that it would come back normal.

Ha.. funny…

Apparently I have elevated levels of calcium and magnesium in my urine. Wonderful. Fan-freaking-tastic. Loving it… Not.

So what does that mean? Good question. So what do I do about it? No clue. What’s next? Umm… Well, I got referred to a urologist. Another specialist. I am not amused.

Seriously though, I would like to give this disease back. It’s not meeting my requirements for a semi-normal and reasonably easy life.

What is Loeys-Dietz Syndrome?

Something that I have faced, since being diagnosed with Loeys-Dietz Syndrome, is the feeling of isolation that comes with having a very rare disease. There are only 50 recorded cases of the type of Loeys-Dietz that I have. That’s a very small group when you consider the entire population. But then, the disease itself is fairly newly discovered so I am sure more will surface later. I feel bad hoping for that…

The feeling of isolation that goes with having such a rare disease is made worse by the fact that it is a very serious and life-threatening disease. You can go from being fine to being dead in a matter of minutes. It’s terrifying. Even more terrifying, however, is the fact that it’s rare to doctors as well. Most of my doctors have never met another patient with Loeys-Dietz. They don’t know how to treat it. They don’t know the complications of it. They don’t even have any literature on it and probably didn’t learn about it in Med School.

One thing that so many people take for granted is the fact that their doctors will know their diseases and know how to treat them.

For me, this is not the case and it could mean my life or my death.

So what is Loeys-Dietz Syndrome then?

Loeys-Dietz Syndrome is a vascular-type connective tissue disease. This means that the blood vessels are much weaker than normal peoples’ and are much more prone to aneurysms. With Loeys-Dietz Syndrome, it is almost a guarantee that you will develop an aneurysm at some point in your life.

For example, my grandfather has three aneurysms and my mother has two.

There are other disorders that also put you at greater risk for aneurysms: Marfans and Vascular Type Ehlers Danlos Syndrome. The catch, however, is that Loeys-Dietz can present with aneurysms in almost any artery, not just the aorta. Also, the aneurysms seen with Loeys-Dietz are much less stable than in Marfans or vEDS. This means that the aneurysms need to be monitored and treated much more aggressively, with surgery done on smaller aneurysms, than in similar vascular-type connective tissue diseases.

So what do you do? How do you not die?

Pretty much you just watch and wait. Maybe take a beta-blocker to keep your heart rate under control and your heart not too stressed. Or take  another drug that may or may not stop aneurysms (the clinical trials of that drug have not been as optimistic). You also do scans and echocardiograms to look for the aneurysms and hopefully stop them before they kill you.

Overall, the disease, in its big glorious picture form is pretty bleak. There’s a good chance that I will require surgeries. There’s a good chance that this will kill me. There’s a good chance that the people, family and friends, who have it will also be similarly affected.

Maybe I could deal with all that though and maybe I wouldn’t be so devastated if it wasn’t such a rare unknown disease and if it wasn’t such a fight to simply get the care that I need.

Dear….

…Skin,

How do you manage to not only get cut, but scar so easily?!? Seriously, the pant fabric wasn’t even ripped and I have a scar? Toughen up.

Dear Heart,

They say everyone marches to the beat of their own drum… That does NOT MEAN YOU!!! Stay in rhythm dude!!

Dear Joints,

Keep it together guys! Seriously.. you have one job. Just one. I know it’s not fully your fault. Misters Ligaments and Tendons can’t get their acts straight, but you gotta show them how it’s done Joints! Work on it. Please. Okay?

Dear Muscles,

You got this… you’re tough. There is absolutely no reason you should come crying to me every time you feel like you can’t handle something and my waking up with you hurting is not acceptable. How strenuous can sleeping really be?! Seriously. Stop with the hurting ok?

Dear Brain,

I know that Mr. Muscles is pissing you off (especially in the neck area)… I’m working on it. Just back the f*** off with your constant headaches ok? Got it? Good…

Dear GI Tract,

I don’t even know… I mean, do YOU even know what you’re doing? Kudos on not letting me get fat, but at least let me keep some of the weight ok?

Dear Kidneys,

Put the blood back into the bloodstream. You cannot keep it and It does not belong in urine.

That concludes our monthly meeting. You all  have your assignments now. Please work on them and do better…

There Is No Balance With An Illness: I Just Fall

I feel like I’m walking a very narrow walk-way without knowing where the drop-offs are. Not just that though… even if I could see clearly where they’re at, that doesn’t change the fact that they move on me. Once this walk-way was nice and clear and safe, now it’s a drop-off… Good to know. Oh wait, I didn’t know. I just fell.

So what on Earth am I talking about?

Well, to be fair, I don’t even know what I did do to cause the massive amounts of muscle pain that I have right now. I didn’t know I fell off of the stupid “drop-off” until I was suffering from the effects of having fallen. It came as such a shock to me, when I woke up, got out of bed, went to walk, and fell (Literally fell, bet you didn’t see that coming?). Lots of stabbing horrible pain from my calf muscles. I don’t know if it was the shock of the pain or that I was just unprepared to support myself through the pain, but down I went.

Maybe it was my staying up too late that caused it. I’m not sure why exactly lack of sleep causes muscle pain, but I can’t think of anything else that I have done recently that would make my body so pissy. But whatever. I’ll deal (and I really really try not to think about the fact that I have no choice but to deal with it).

Another drop-off that I had the pleasure of finding? Alcohol and me had a fight. It won. I ended up waking up on the bathroom floor very disoriented. Oh, and I do so love throwing up blood. Fun. Gives me joy. You should try it (Ok, I’ll try to cut back on the sarcasm… try..). I know that alcohol and me do not particularly get along at times, but I wasn’t drinking in excess… in fact, I’ve had much more to drink in the past than I did last night. Also, I like to think that every other college student, many of whom seem to major in drinking, aren’t all throwing up blood and then passing out on the bathroom floor (and let’s just be honest here and say that they are drinking WAY more than I did last night). Yeah, I know, not every other college student has Loeys-Dietz Syndrome either. I bet they’re jealous..

I probably shouldn’t have had alcohol on the same night that I fainted and fell on my head anyway.

I’m not the brightest.

Don’t tell my professors though. They’re still passing me for some crazy odd reason. Although, that may change after my test on Monday.

So yeah, life as a PhD student with a chronic illness rocks and I can totally do this.

Maybe I Can Do This

Sometimes it just takes one person, to say one thing, and all of a sudden there is hope again. I’m not sure the person realized what they were truly giving me when they said this:

face it, you’re a success story

But I truly needed to hear it. Lately I’ve been thinking of myself as such a failure. I always feel like my illness has put me two steps behind everyone else when they do not have to deal with a systemic chronic illness. I feel like I’m always on the edge of failure. I fight so hard to achieve what I can and then on top of that I also have to fight my body.

And believe me, it loves to rebel. Its latest victory was to sleep through three alarms. It has done this before whenever it decides that I am too exhausted. My body takes what it needs, when it needs it, and I have no say in the matter. But at any rate, that little trick cost me an extra credit point that I really needed.

Body: 1 and Me: 0

One step forward… and my body drags me two steps back.

So to have someone tell me that I’m a success story? Someone who knows about my illness (as much as anyone currently does) and knows what I have achieved… and still says that? It was like a healing salve.

I keep saying that I feel like I’m drowning. That I am underwater and am on the edge of giving up and just letting go. To hear that I am a success story though?

Finally… finally a life-jacket…

A tiny glimmer of hope and maybe now I can rescue myself the rest of the way.

I am not an innate failure.