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.

Loeys-Dietz Syndrome: Patient Voices

One of the most devastating aspects of having a rare disease is that all too often patients feel alone and isolated. Loeys-Dietz Syndrome (LDS) patients are not exempt from this. Their voices are cut short because others have never heard of their disease and therefore cannot understand the impacts that Loeys-Dietz Syndrome has on them. Awareness and understanding should never be taken for granted. A doctor’s awareness of  a disease can save a life and a friend’s awareness can offer comfort. Here are a few patients who are willing to offer insights on how LDS has affected them in hopes that maybe others can better understand:

“LDS sucks. You are constantly worrying if you really just have the flu or if you’re dying.” -Crystal, mother of 5 year old Xaviar,  TGFBR1 mutation

“Frustrated and exasperated! I’ve already been diagnosed with LDS, an aortic root aneurysm, stomach aneurysms, and an iliac aneursym.” -Monica, TGFBR1 mutation

“My wife passed away in 2003 before it was diagnosed as LDS and my daughter has been diagnosed with LDS type 1 and had aortic root replaced and aortic valve repaired in Nov. 2014. [She] had a left vertebral artery stint May 2015.” -Alan, TGFBR1 mutation

“LDS doesn’t just effect our hearts physically, it also emotionally tears our hurts apart because it takes our loved ones from us.” Amanda, TGFBR1 mutation

“Inheritance sounds better at the lawyers office than the doctors office.”…”From one of my Drs several years ago, ‘Why do you insist you have something? You are fine. You don’t have anything but nerves.'” -Elizabeth, SMAD3 mutation

“Heart surgery at some point to repair aneurysms -often multiple surgeries – is a given with Loeys-Dietz patients. I had my first heart surgery on June 23rd, 2015. I had a 5 inch section of my aorta replaced and my aortic root replaced with a mechanical one. Now, for the rest of my life, I have to take blood thinners. I’m 31 years old.” – Amanda, TGFBR2 mutation

“My son Simon was born in 1991 and was diagnosed with LDS in 2012. The diagnosis was a coincidence after investigations when an aneurysm of the aorta was found during his pectus bar operation. Simon was at first shocked. He expected that Loeys-Dietz would be excluded…. He lives his life. He is a great son.” -Karin, mother of Simon, TGBFR1 mutation (translated to English)

 

LDS Heart

We are LDS Strong!

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.

The Things That I Forget

Lately I have been dealing with a lot of stress and health issues. My symptoms have gotten worse, but it’s the type of worse that is more uncomfortable and miserable than life-threatening or scary. But the uncomfortable really sucks and the miserable is really… well.. miserable.

But I am living my life, or rather, struggling through my life and trying not to fall from the weight of everything. It’s hard. I think at times it might even be unbearable.

But what choice do I have?

None.

Every now and then, I get a glimpse of the big picture and I think of all the things that I have forgotten about myself in order to pretend that my life is a little more normal than it really is. It’s a coping mechanism. Or denial. I’m not sure which.

So what have I forgotten?

I forget that fainting is not normal. It is not a common daily occurrence for most people. That saying “When you fall down, you have to pick  yourself back up” probably didn’t mean it literally.

I have also forgotten about my spina bifida occulta.

SBO2

Spina bifida occulta of my S1

Is it strange to forget about something like this? I have pain from it on an almost daily basis, but the pain is so normal for me that I just ignore it, deal with it, and go on with my life.

What other choice do I have?

None.

I forget that the amount of exhaustion I have is not normal. Apparently others have the energy to come home after a hard day at work and are able to make supper. Sometimes when I think about that, I am genuinely amazed. I have gone to bed before without supper because I am just too exhausted to cook anything.

I forget that aneurysms are nightmares to everyone else when they are just a normal reality to me.

But, again, I ask: What choice do I have?

None.

Forgetting is not necessarily a bad thing. Because when I remember… when I think about everything I deal with.. when I look at the big picture…

I feel as if I will drown.

A Tale of Three Specialists

Since we last met, I have seen a pulmonologist, neurologist, and a gastroenterologist. This is the first time seeing these specialists since I have moved and they were all new doctors for me. Also it is the first time seeing these specialist since being diagnosed with Loeys-Dietz Syndrome. Fortunately I’m at a large medical hospital so my doctors aren’t completely clueless about rare diseases.

Of the three doctors, the neurologist was the most straight-forward. I’m always amazed at how strongly neurologists want to fix headaches and migraines. I’m so used to living with the pain, that it seems almost insane to think that there could be any other way.

I mean seriously, do people actually live life without so many headaches? Is that a thing?

Anyway, the neurologist decided that we’re going to try new meds in order to get a handle on the headaches. So far, the meds aren’t working…I’ve stopped them and somehow I need to muster up the courage to tell the doctor. This will be the 2nd medication attempt that I’ve rejected. I almost feel guilty for still having a headache.

This appointment also resulted in a referral to the neuro-muscular clinic when I asked the neurologist about my CK levels being elevated at times. I would really like to know what’s going on with that. I’d rather my muscles didn’t quit so easily… Big babies (don’t tell them I said that..).

The pulmonology appointment was interesting. It started out with my seeing the doctor before my pulmonary function test. Already that had me a bit worried because I wasn’t supposed to see the doctor until after the test, but it turns out that he wanted to see me both before and after (Note: There are “perks” to having a rare diagnosis. One of these perks would be extra doctor time.).

Prior to the test, he talked to me about Loeys-Dietz Syndrome, said he spent the night before the appointment reading up on the disorder, and then discussed what he thought my trouble with breathing might be.  His predominant theory was that I might have something called “tracheobronchomalacia” which is essentially a weakness in the connective tissue of the airways, allowing them to collapse at rest. He did  say that pulmonary hypertension was also a consideration based on my echo results. After our first talk, I had my pulmonary function test and then was returned to my appointment room to wait to discuss the results with the doctor.

I was terrified, anticipating horrible news, when I saw two doctors walk in instead of just the first one. Turns out the second doctor just wanted to see the rare patient (Note: Another perk to being “rare” is that doctors actually seek you out instead of vice versa. I’m not sure how much of a “perk” this really is at times…).

Welcome to Zoo of Oddities. In this room we have the rare and seldom seen Loeys-Dietz-Patient. I was not amused.

The end result of that appointment, however, was a diagnosis of asthma, an inhaler, and a referral to see a geneticist. I’m still not sure whether the genetics appointment is just one doctor sharing his “cool patient” with another doctor or if they actually feel that I need the appointment.

The GI appointment was definitely the most interesting appointment however. The doctor was clearly very excited to see a patient with Loeys-Dietz Syndrome and was thrilled to learn about the disorder and even more excited when I told him the specific gene that is mutated in my case.

The GI doctor also played a little “Dr. House” game. After first making sure it was alright with me, he brought in two doctors, at two separate times. He would say a brief overview of my symptoms, have me show some hypermobility “tricks”, and then had the doctor guess what they thought my diagnosis is. Interestingly, both doctors guessed Ehlers-Danlos Synrome. Both agreed that I didn’t have the normal Marfanoid characteristics, and neither one guessed Loeys-Dietz Syndrome. Although they both guessed that it was some sort of vascular connective tissue disease.

I appreciated the fact that they all addressed me with their guesses. I felt like I was more of an equal participant than an interesting oddity.

Both also suggested what to do next about my GI symptoms. One doctor was very eager to do GI scopes and biopsies. I wasn’t as eager… The final decision, though, was that I would have a capsule endoscopy. This is a little camera pill that I am supposed to swallow and it will take pictures as it goes through my system. This is a much better alternative to having a scope shoved up or down various openings.

Overall, the GI doctor was incredible. He spent around 2 hours with me and made sure to let me know that he was available if I need anything or if my symptoms start to get worse again.  He also recommended that I go to the genetics clinic… so maybe they actually feel like I need a geneticist?

Three doctors down, two more to go. I am a little curious to see how the geneticist will handle my having a very rare genetic disease (I’m also curious to know how many doctors I will see at that appointment). It is definitely nice to be taken seriously now, but I wish that I didn’t have to have this horrible disease in order for me to be taken seriously.

I guess we can’t have everything huh?

In other news: I have successfully completed my first two core classes for my PhD degree! Ironically, the last one was a genetics class. It would have been embarrassing if I failed that one!

 

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.