Update: Watch and Wait

Since my last blog post I’ve had three doctor appointments and one canceled appointment (not by my choice). If you remember my post “The Remote“, I have been having more symptoms lately and have not been feeling so well. I have been really struggling trying to go to school and do my work in lab while feeling so weak and sick.

My first appointment was with an electrophysiologist, a cardiologist who looks at the heart’s electrical rhythm. My heart has been slowly developing more and more PACs which are turning into runs of SVTs. They feel absolutely horrible. As if my heart is trying to flip-flop out of my chest and I would really like for it to stop. I am trying to be proactive and get treatment started NOW, before it gets worse. Plus, I really wanted to stop taking beta-blockers and lessen the amount of medications I take.

This appointment pretty much killed my hopes though. The doctor said, for right now, that there wasn’t anything that could be done for the runs of SVT. He offered a new anti-arrhythmic  medication, but that seemed counter-intuitive to my desire of getting OFF of the medications. Plus I’m really afraid to add more and what the long-term consequences would be. When I told him I wanted to get off the meds, his response was: “There is 0% chance that you will be able to get off your heart medication.” Oh joy. Happiness. I think, the most frustrating aspect of this appointment, however, was that he didn’t seem to realize that I wasn’t seeing him for my dyasautonomia. Electrophysiologists don’t treat dysautonomias, which I knew, but I doubt that he believed I knew that. He spent very little time addressing my runs of SVT which was why I made the appointment in the first place. But at any rate, I am now on a “watch and wait” path. Basically, I am just waiting for the SVT runs to get worse or to progress to a different arrhythmia before we treat them. But it really really sucks dealing with unpleasant symptoms and not being able to do anything about it.

My second appointment was with my urologist. I was planning on canceling this appointment. I had made a compromise to myself that if I went to the electrophysiology appointment, I would cancel the urology one (I really really am not good about being a patient. I tend to ignore my health for as long as I can get away with it). But then I couldn’t rationalize canceling an appointment that dealt with something I really have been having trouble with. My  urine has been very dark lately (I’m not dehydrated!). It’s been much more frequent and persistent than normal and that usually means blood.

So I went to the appointment and had the urine test and it showed… Blood.

Shocked? I wasn’t. This is the 3rd time that I have been to this doctor’s office but the first time that they saw the hematuria for themselves. Finally they didn’t have to take my word for it anymore (doctors hate having to take a patient’s word for anything). Unfortunately, I was labeled “our mystery patient”. They don’t know where the blood comes from and why it’s happening. Right now we’re doing a “watch and wait” thing (starting to see a trend?). If my urine gets darker then we will repeat the CT scan and cystoscopy. I’m really really hoping it doesn’t get darker (I totally ignored the one time it did. It was only once though!!).

Finally, my third appointment was with Neurology. Everything has been fairly stable on that front and this appointment was just a check-up one. I did get a referral to an ophthalmologist though because my eyes have been getting more and more blurry.

The appointment that was canceled was suppose to be with my geneticist. I need to get my MRA scans scheduled, but due to the genetics office moving, my appointment was canceled. I am getting referred to a Marfan’s (another vascular CTD) clinic doctor instead. Loeys-Dietz patients need these scans every year or two to make sure that there are  no new aneurysms and no growth in current aneurysms. That’s the key to treating Loeys-Dietz: catching and treating the aneurysms before they kill me. In other words… Watch and wait.

So that’s my life for you: “Watch and wait”. While trying to juggle the appointments I do have, my symptoms as they worsen, and trying to be a full-time PhD student. It’s no wonder I’m so exhausted.




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:


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.

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.

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.

New Cardiology Appointment

For around two years now I’ve had the same cardiologist. Maybe in the beginning she was a good doctor. That was when she thought I was dying and she acted pretty quickly to get the proper tests. Once the cardiac cath. showed that I was not dying, however, she suddenly seemed to have lost interest in trying to help me. I guess I lost all patient-appeal when I was no longer a patient with a terminal illness. So anytime I went to her with a problem, she would just increase the dosage of my meds. After one particularly horribly disappointing appointment, I found myself crying in a stairwell. In that stairwell I finally decided that I was never going back.

So I found a new cardiologist, with whom I had my first appointment today.

The appointment started off with a nurse getting some background information. I usually hate this part because it’s awkward. “Do you have a history or urinary tract infections?”…”Er, no… but I’ve had blood in my urine… it wasn’t an infection. I didn’t have kidney stones either…yeah…” It’s hard to give a medical history when things don’t fit a normal picture. So once we got past that awkwardness (and really, it’s not hard for me to make something awkward), she took my bp, pulse, and an EKG and then left me in the room to wait for the doctor.

Who appeared within a minute (That happens?! I was totally expecting to live and die in that room before he came in…). I however, became instantly wary when he asked why I needed a cardiologist. He asked what a 25 y/o was doing there. He asked who referred me. I was terrified that I had found yet another doctor who seemed to already be convinced that I was fine before even examining me.

Turns out it was just his method of trying to get to the reason I was there… Once he started looking through the records he had (most of them from the geneticist) his first comment was “you’re a complex case” While that’s not what everyone wants to hear, it is much better than him calling me a hypochondriac. So I was a bit relieved to hear it.

Then we went through the “Oh my geneticist feels strongly that I have either Classic or Vascular EDS and is testing me” bit. He asked me if I was flexible. I performed some circus tricks. He cringed. He then tried to tell me how horrible vascular type can be and I reassured him that I have a strong family history of aneurysms and therefore already know.

It’s freaky to hear your doctor say “Poor…” over and over while reading your report.

His commentary was pretty funny though: “You had a DEXA scan?!?…oh.. it showed something…” He needs to realize I’m a young person with old diseases or he’s going to be in for some unpleasant surprises. I can’t wait till he reads my GI scopes reports (although I’m not sure why a cardio would be reading those…).

So I finally have a cardio who seems to be able to handle “complex cases” without getting scared and without throwing drugs at me hoping they’ll do something. In fact, he doesn’t even like that I’m on the beta blockers at such a young age. Unfortunately all that means that I need to have a stress test. I’m definitely afraid of this test. I know it’s going to be unpleasant at the very least. Oh well. I’m still hoping for some answers and maybe a bad stress test will give me a chance at a solution/cure. Silver lining?

Life Doesn’t Stop With an Illness

This fact is how I found myself going to three doctor appointments in the last 2 or 3 weeks while studying/taking the GRE, doing lab research for my major, and working. One or two of those things would prove challenging for anyone. But combine all of them? Yup, I was a nervous, anxious, exhausted mess. It was miserable. I cried. Don’t judge.

So let’s go over the doctor appointments. I had two with specialists (Gastroenterologist and Cardiologist) and one with my family doctor. Unfortunately all of the above have no idea what to do with me.  I shouldn’t really be surprised. This is what happens when you have a rare disease or two (See my genetics appointment post if you don’t remember). Doctors tell you that they haven’t heard of your disease since Med. School. I would be ok with this if they were just honest about not knowing what to do. If they did research to actually be able to help me, or, if they aren’t going to do the proper work, they referred me to a doctor who could potentially help me. I’m tired of living in limbo with a horrible quality of life. Every day should not be this much of a struggle. After my cardiologist appointment I went into a stairwell to cry. Her solution, RIGHT AFTER reading my genetics report and admitting to not knowing the potential diagnoses, was to raise my medication dosage. My GI appointment resulted in a futile ultrasound to check my perfectly normal gallbladder. I had a feeling it would be normal, but I was so thrilled that she was finally looking into other reasons for my pain and weight-loss that I was willing to try it her way. It was a stupid mistake. Tests are exhausting, both physically and mentally. I shouldn’t put myself through that unless I have faith in my doctor and their conclusions/thoughts. As for my Family doctor? Yeah, he spent the first part telling me how complex my case is, how rare my issues are, then spent the second half telling me that my weight-loss could be due to stress and a therapist might help. Sorry. Not good enough. My conditions are known to be associated with complications resulting in weight-loss. Serious complications that I am worried about. And if he had done any research, at all, he would have known this himself. So yeah, I struck out on all three appointments. At this rate, I’m just waiting for my next genetics appointment and am going to go from there. It’s in December so that’s not too long from now. After that, I need to seriously reconsider my current doctors.

Onto the GRE. Have I ever mentioned that I suck at standardized tests? I do. Really really suck. The test was horrible. I cried after that too. Mind you, I’m going to blame poor scores on the fact that the power went out right before my test. So I had to wait an hour before I could even begin it. Sigh. At least it’s over and my scores are good enough that I can still apply to PhD programs. So that’s happy.

Overall, my life has been busy and stressful and hectic. It’s very hard dealing with both my illness and my day-to-day life. I am still trying to find a balance between being sick and being a normal person. I have to make allowances for my health or else I could lose everything. I just hate feeling that making allowances means that I am weak and less than anyone else. I hate having to admit that I am tired or pained or just not feeling well. Unfortunately I can’t separate my life from my health. I have to combine them and I have to make them play nice.