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?

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.

 

 

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 🙂

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.

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!

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…