For The Sake of Normality

What do you do for the sake of normality? How far do you shove your reality down just to be able to claim that your life really is normal?

It does work. To a certain extent, but then reality always seems to catch up to me. Like an annoying fly that buzzes around me.

One of those annoying little flashbacks to reality happened with a cardiologist email. I had worn the heart event monitor (that I wrote about a few posts back) for a week, returned it to the doctor via postal mail, and had promptly forgotten about it. I really hadn’t cared enough to push for results like I would have done in the past. So I was pretty shocked when I got an email claiming that my monitor had caught runs of supraventriculuar tachycardia (SVT).

I wasn’t really prepared for that. It’s one thing to feel and suspect that something is getting worse, but an entirely whole other thing to be faced with the proof. My last monitor showed a hint of SVT in the form of Atrial Flutter. This one showed two runs of Atrial Tachycardia and I had only worn the monitor for a fourth of the time. My heart is definitely getting grumpier.

Little b*tch.

Oh well. I decided to ignore it until my next appointment in October. I will come up with a next step then. So I attempt to be normal…

Another interesting tid-bit that accompanies my illness, however, is the propensity for infections. This latest one clearly meant business:

Infection

Notice the red streaks? Yeah…

In less than 24hrs from when I got the blister on my toe, I had streaks of red going up towards my ankle. I was amazed. And in pain. Quite a bit of pain actually. Ouch…

There are a few times when an infection has almost turned into sepsis for me and it usually happens in the blink of an eye. One second I’m fine and I have it under control, and the next thing I know, the infection is clearly winning. This just happened to be one of those times.

The thing about rare diseases, is that it is sometimes hard to tell what is related to the disease and what is not. Loeys-Dietz is caused by a mutation in a signalling pathway that plays an important role in the immune system’s function. This means that my mutation could be the reason that I tend to get infections more easily. Or it could be totally unrelated. It’s hard to tell. This infection did earn me a course of strong antibiotics though.

Overall my life has been pretty un-exciting. Just a hint of “chronic-illness-flare” to make it seem a tad more interesting to people who lead healthier lives.

I do wish that “normal” could come a little more easily at times and I do begrudge the amount of time and effort I need to devote towards my health.

Imagine what I could have accomplished by now if I didn’t always have my health to contend with?

It almost makes me cry.

Advertisements

Life, Cardiologists, and Stuff

The past few weeks have been hectic. Since moving to a new state I have been seeing new doctors and new specialists. This always seems to result in my seeing even more specialists and, if I’m even more unlucky, my needing tests.

When last we met I was about to have a colonoscopy and a cystoscopy (gulp). Both went well and both were normal. I had a feeling the colonoscopy would be as I hadn’t been having bad GI symptoms for quite some time now. The cystoscopy being normal is both good and bad though. There’s nothing wrong with my bladder and I definitely don’t have a tumor (yay!) unfortunately that means that my hematuria is probably coming from my kidneys (boo!).

I now fully understand what people mean when they say it feels like they are peeing shards of glass after a cystoscopy. Fun. Honest. You should try it.

But whatever. For now I get to check urologist, gastroenterologist, and neurologist off my “Seeing anytime soon” list.

Meanwhile, I see a neuro-muscular specialist in a little over a week. That appointment has me very nervous. Hopefully I will get an answer as to why my muscle enzymes become mildly elevated at times. Preferably without any painful tests.

I did see my cardiologist last week. I’m still wearing the effects of that appointment:

heart monitor

A handy-dandy Event Monitor

Apparently if you say things like “I feel like I’ve been having more palpitations lately” or “my last monitor showed a lot of PACs, PVCs and SVTs” it will earn you one of these magical devices. Who knew? At least it’s only for 7 days… *sobs*

I really do hate Event Monitors. Mostly because I end up with horrible reactions to the electrodes.

Yeah… The hatred is strong with these things.

Oh well. As far as chronic illness perks go, this really isn’t too awfully horrible… (Do I sound convincing?)

Life goes on. I am almost done with my first year of PhD school. I hadn’t quite realized how difficult this PhD program was going to be (hence why my blogging has slowed down to one post a month… I will do better…). On my worst days though I curl up into a ball, cry, and curse my luck at having to juggle what feels like a full-time illness while studying molecular biology. But I feel as if there may finally be light at the end of the tunnel. At least, for now, I’m fairly certain I won’t fail out of the program.

Sometimes, though, it’s just very hard to not let my illness be an easy excuse to skip class/lab work and sleep for 24 hours.

Thankfully that’s what weekends are for.

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.

12737093_10153737473348673_1616472325_o

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.

Scanxiety and Other Sorts of Horrors

Scanxiety: It’s not just for cancer patients these days. With Loeys-Dietz, I have signed up for a life-long subscription of looking for little ticking time bombs. Is this the year I will have a brain aneurysm? Does that blood in my urine mean a renal aneurysm? Is heart surgery in my near future?

This condition and I are going to have so… much… fun…

But whatever, I’ve survived this year’s scanxiety. All of my MRAs (Magnetic Resonance Angiograms – not even the doctors know the difference!!) were normal. I’m so relieved! I’m going to go ahead and take this as a free pass to ignore any sudden sharp pains for a while. I’m pretty sure now that they’re not a sign that I’m going to die.

I still hate echocardiograms though. And this one was not an exception. While my MRAs were normal, the echocardiogram showed that my mitral valve is starting to get leaky. This isn’t really surprising with a connective tissue disease, but it’s certainly not a “yay!” moment. For now it’s fine though, just something to keep an eye on in the future.

The thing that is really annoying and troubling is that my echocardiograms tend to show elevated pulmonary arterial pressures. The very first time this happened, I had to get a cardiac catheterization test to get a more accurate measurement of the pressures. Thankfully that was normal, but the test itself had so many complications that it wasn’t funny. A twenty minute test took two hours and resulted in a puddle of my own blood on the floor. Fun. With the echos though I always worry that the pressures are something that will slowly get worse until it is a real problem.

After the first echocardiogram, I started beta-blockers and was able to get my heart-rate under control. Because of this, my second echo showed much lower pressures. With this third one though, the pulmonary pressures have gone back up to nearly where they were before I was on any medication. And this is even after having gone up in dosage. I have an uneasy feeling that another catheterization test is in my future. But at least I hopefully won’t have to worry about it for another year. I just need to avoid getting anymore echos between now and then.

So that’s the impassive and straight-forward explanation of how the tests went. But I’ve been really struggling lately. I feel so broken and dejected. Currently I have people lining up to get away from me and I’ve just stopped caring. I was recently yelled at for pushing someone away, and the ironic thing is I really wasn’t then… I am now. I’ve completely given up.

It took me so long to write this update because I don’t know how to share how much I have truly been struggling and I didn’t know how to just ignore it and write a fake response.

Along with the scanxiety, and getting through them, I’ve been having some insane GI issues and have dropped 5 pounds. I have never had such constant intense nausea. Even the last time when I lost so much weight, the nausea wasn’t nearly as bad and I could at least eat. This was definitely not the case this time around. My mornings consisted of huddling in the shower curled up in a ball crying, hoping that the nausea would lighten up enough so I could fake it better and go on with my day. I had also inadvertently went on a liquid diet without even realizing it. I survived on Ensure and soup… at least, whatever soup I could stomach before giving up an hour later (I flushed half a bowl of cereal down the toilet…).

And that’s just my health.

PhD school is… hard.

And one of my closest friends trying to get himself killed didn’t help either. And my other friends? I swear I’m just an exit sign to them anymore. Step on over here and I’ll show you the way to leave.

I feel like I have no heart to give right now. I’m just trying to get comfortable with being dead inside because maybe then the pain will hurt a little less.

I think I’m getting better at it. I wrote that last line without crying…

Am I Strong Enough?

I’m a little overwhelmed.

For nearly a year now I’ve pretty much had a break from the “patient world”. I went to doctor appointments but they were rare and only once every couple of months. Each appointment was an “ending” since I was moving. It was nice to be able to go to a doctor with the attitude that I wouldn’t see that doctor again. I almost felt like a normal healthy person who doesn’t have 5-10 different specialists and weird tests scheduled that most people haven’t heard of.

I felt healthy and normal.

So now that I’ve moved and entered into a huge medical hospital community for my health insurance and now that I have a diagnosis to give to the doctors everything has become so much more real. I don’t know how to handle it. I don’t know how to join my two worlds into one. How do you bring the “weak vulnerable patient” world to the “confident hard-working PhD student” world? I don’t know..

Today, for example, I was studying and working on my research and I was freezing. So I took my temperature and it read 96:

I gotta admit though that it is nice to have validation of what I'm feeling..

I gotta admit though that it is nice to have validation of what I’m feeling..

Ok. So I have a reason to feel like I’m freezing. But it’s distracting and I need to take care of it and that’s going to interfere with my work. But whatever. It is what it is. I took a bath to warm up and that worked but way overshot the mark and my temperature went up to 99.4.

Woops

Whoops..

I felt like crap. The sudden change made me feel horrible but I ignored it and went on studying, trying to make up the time I lost with the bath.

But this is the thing that worries me the most: Am I actually really weak? I’m I just using this illness and how poorly I feel as an excuse? Does everyone feel this way and really they’re just so much stronger and better at getting through it and hiding it than I am?

So maybe that’s why I don’t want to combine my two worlds. I’m afraid of being looked at as weak. I’m afraid that people will automatically lower their expectations of me. Most of all, I’m afraid that I really am weak and that if anyone stepped in my shoes they would achieve so much more than I have and could, but with a lot less tears and pain and insecurity.

I think soon though, I won’t have a choice. I’ve entered back into the “patient” world. In less than two weeks I have three MRAs, one echocardiogram, and a cardiology appointment scheduled. After that I have a neurology and GI appointment. I am also supposed to schedule a glucose tolerance test at some point too. It’s a lot and a bit overwhelming with the work that I already have from my “PhD student” world.

At this point, I just really don’t know what to do or how to handle it. I’m taking it one day at a time and praying that everything works out.

I just really really want to be strong enough for everything.

Genetic Testing: Part 2

The genetic results are in and…

I have no idea what to make of it. At least not yet.

I received an email on Monday night telling me that my online health record had been updated. My immediate response was intense panic. What if the test hadn’t shown anything? What if it had? I signed on and looked at the results and they said….

Results pic

….Nothing. They didn’t actually post my results.

Now, this all happened while I was traveling back home from visiting family. So I got these results late at night in my hotel room and the next day I was going to catch a bus at the airport to take me back home.

So while waiting for the bus at the airport the next day, I called the pathology lab to get a copy of my original report. The woman did not want to give me my results and could not be swayed despite the fact that my online record said to specifically call the lab to get a copy of the original report. She said I had to contact my genetic counselor.

I finally got my genetic counselor on the line an hour or two later while I was on the bus. The genetic counselor didn’t want to give me my results either (Hint.. by now I know that if they don’t want to give you the results it means that there’s probably something they’re not ready to tell you yet). She did admit that it showed something though and I did finally manage to coerce her into telling me which gene was affected. She also told me that she had planned on specifically bringing up my case in a meeting the next day and that my geneticist would let me know what all is going on next week.

I’m so close to finally having an answer…

Genetic Testing

My insurance approved the genetic testing!!! I was really scared about this. There are several things that had me worried. The first one being that I lose insurance at the end of May. I know that insurance companies move slowly and I was really beginning to doubt whether there would be enough time for me to get the testing approved. I could never afford the testing without insurance covering most of it. The second thing that concerned me is my moving in July. I’m moving halfway across the country (USA) to a completely different area. I am going to have to start completely over with finding new doctors and not many geneticists support genetic testing to begin with. So I was very afraid that if I moved before I could get this test done, I would never be able to get it done.

But now I don’t have to worry!! I’m so excited!! Look at all the diseases that this test tests for:

genes 2

Unfortunately I won’t get my results for another 3-4 months.

Also unfortunate is the fact that I will probably start to go insane towards the end of that time period. I don’t know what I will do if the test doesn’t show anything.

The Stress Test….

…is almost as bad as a tilt table test. I’m not a fan.

An important thing you need to know is that I’m in shape. I’m thin, I walk everywhere, and I have decent muscle tone. I mean, I’m not going to be running marathons any time soon, but I can walk up a hill without wanting to die. So the whole crazy heart rate thing? Yeah… it’s just my heart being a jerk. I’m not deconditioned.

The stress test started with the placement of a few hundred electrodes (this might be an exaggeration.. maybe..). I looked like I got attacked by an octopus. I was then left alone in a room to wait until the doctor showed up. The majority of the time that I was sitting in that room, calmly reading (Game of Thrones… ), my heart rate was in the 100s. Interestingly my heart is apparently not a fan of coughing which caused it to shoot up to the 130s. When the doctor came in to start the test he did note that it was crazy to have a resting heart rate so high. He told the tech that it must feel so awful to have a heart rate that high all the time. Speaking from personal experience? It does.

Upon standing up, my heart rate jumped to the 130s. A diagnosis of Postural Orthostatic Tachycardia Syndrome (POTS) requires an increase in heart rate by either 30 beats per minute or a heart rate greater than 120 beats per minute within the first ten minutes of standing. I met both of these criteria. To my surprise, the cardio actually brought up POTS (he’s heard of it!!) and was asking whether I have POTS or Inappropriate Sinus Tachycardia (IST).

Overall the Stress Test was fairly normal (I call it my normal abnormal). While my heart rate was extremely high during the test and while I did have a few Premature Atrial Contractions (PACs), it was still fairly normal. Way to go heart… act normal when there’s someone watching, but I know how you really are… Seriously, I’ve had monitors show any number of things including: intermittent bundle branch block, a-flutter, SVT, PAT, couplets,  triplets, and PACs that drop my heart rate by a 100 beats in one minute. Think any of those would come out and play? Nope. But that’s fine. I’m patient (Ha. Ha. Get it?).

One thing that was achieved however was that my cardio changed his mind about the beta-blocker. At my first appointment, he wasn’t thrilled to see me on one, but prescribed it anyway. Today, when he saw how my heart reacted, his first words were “yeah, you really do need a beta-blocker”. He also said that once I move I need to find a new cardio and an electrophysiologist. I’m hoping he’ll help me find one and will refer me. He said that where I’m moving has excellent doctors, so that is encouraging.

Ironically, the stress test did stress me. While my heart may have been behaving unusually well, I did have brown urine after the test. Usually the brown urine, for me, signifies blood in my urine along with a CK  level outside of the normal range. While I was somewhat expecting that to happen, it doesn’t make me happy. It shows that 12 minutes on a treadmill is enough to start the muscle breakdown process and is too much of a stress on my body to go unnoticed. I’m not sure what exactly that means or what causes it, but it frightens me that it is now a consistent consequence of pushing my body too hard.

Really, I’m just looking forward to sleeping for a few days now.