The Hunt For a New Specialist

I see a new specialist in my future…. well, actually, probably two new specialists, but we’ll only discuss one with this post. Not long ago, I went to Urgent Care for pain in my neck. This happens to me fairly often and I used to just suffer through it till it got better, but now, quite frankly, I’m tired of my neck’s bullsh*t.

Nope. Not doing it anymore.

Give me the drugs…

But… anyway… what happens is I wake up with SEVERE pain, a HUGE knot in my muscles, and inability to move my head or, really, anything without almost crying. I’ve decided that I’m not dealing with the pain anymore when I can just go to Urgent Care and they can give me something to ease it.

With my last trip to the Urgent Care, they decided to do a neck xray. Apparently they find it really hard to understand “No, I didn’t have any trauma. I woke up like this. I have Loeys-Dietz Syndrome.” That was usually met with a blank stare…. So xray time. I wasn’t expecting anything to show up other than reversal of the cervical lordosis, which has been on previous xrays. But, as is the case with the Law of Medical Tests, something abnormal will show up eventually:

C-spine xray

“Mild anterolisthesis of C3 on C4 and C5 on C6” …. huh?

Well that’s new… Anterolistothesis is a type of spondyloisthesis which basically just means that my spine is now out of alignment. This sucks. This really really sucks. One of the cardinal features of Loeys-Dietz Syndrome is cervical instability that tends to lead to surgery. Now I have the beginning of it.

Don’t get me wrong. I LOVE that it’s “mild”. I am hoping it will STAY “mild”. But I think I at least need to enlist an orthopedist on my medical team.

I keep going on, living my life, trying to get through my PhD program, but silently, underneath it all, hidden and secret, the Loeys-Dietz keeps going on too.

Sometimes I really wonder which one of us will win?

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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 🙂

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.

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!

 

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.

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?

The 2nd Genetics Appointment: Part B

So a little time has passed and I’ve digested more of what was said and tested for during the second genetics appointment. Also, most importantly, I got my appointment summary. My geneticist likes to keep her opinions to herself. At my first appointment I was told that it is much easier to diagnose something than to take back a diagnosis. This makes sense, but it’s still very hard for me to go so long having no idea what she’s thinking and what diagnoses she’s considering. Luckily, she writes appointment summaries and sends them to my PCP. I get them from him and can then get a better idea of what’s going on.

One thing about this latest report that amazed me is how much she knew about my previous health history. She must have read everything I’d given her last time.  Seriously, she actually wrote out the numbers of all my abnormal CPK tests (probably because I’ve only had like 4 or 5 of them haha). Reading the medical history section is intimidating. Seeing all your health problems written out in paragraph form and realizing that there’s a lot going on is not the most comfriting. “She was found to have tricuspid regurgitation”…”She was diagnosed with spina bifida occulta”…”She underwent an EEG and that was reportedly showing some slowing in temporal lobe”…”She was noted to have extra ribs”…”she was diagnosed with osteopenia”…On and on and on. I swear I’m not high maintenance.

After the medical history part, comes the physical examination write up. One thing you never want to see in a genetics report….

genetics compliment

…is a compliment and I sure got a lot of them. Which brings us to the next and most important portion of my report: the clinical impression portion. She still seems to think that Vascular EDS  (“Given the patient’s skin, joint and hyperelasticity of the skin and excessive bleeding…”) is a possibility but that I also have the presentation of the Classical type. So it seems like I’m definitely getting tested for V-EDS. Lovely. So the prevailing thoughts on a connective tissue disease are that I have V-EDS or C-EDS. She, however, also lists that I have overlap features of Marfan syndrome, Loey-Dietz syndrome, along with other connective tissue disorders. Apparently the osteopenia adds collagen 1 defects, tenascin XB, and Sticker syndrome to the mix.

She still maintains that I have a comorbid disease along with the probable EDS. Unfortunately the comorbid disease is making things rather confusing (“Comorbid entities and a blend of phenotype is a concern in this patient.”) A chromosomal abnormality seems possible. I’m not sure about that myself. I just don’t seem to fit the phenotype for that one, although she does state that it can be variable in phenotype. She seems to be more insistent on the possibility of a mitochondrial disease or an inborn error of the metabolism (IEM) disease. In fact, she even mentioned IEM as a possibility in the primary diagnoses section.

Over all, I guess we’re narrowing the possibilities down a bit more, but I really am impatient (I don’t put the “patient” in patience). I just want to know what I’m dealing with and move on with my life. Giving something a name really makes a huge difference in being able to start accepting it.