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.

 

 

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!