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!


Scanxiety and Other Sorts of Horrors

Scanxiety: It’s not just for cancer patients these days. With Loeys-Dietz, I have signed up for a life-long subscription of looking for little ticking time bombs. Is this the year I will have a brain aneurysm? Does that blood in my urine mean a renal aneurysm? Is heart surgery in my near future?

This condition and I are going to have so… much… fun…

But whatever, I’ve survived this year’s scanxiety. All of my MRAs (Magnetic Resonance Angiograms – not even the doctors know the difference!!) were normal. I’m so relieved! I’m going to go ahead and take this as a free pass to ignore any sudden sharp pains for a while. I’m pretty sure now that they’re not a sign that I’m going to die.

I still hate echocardiograms though. And this one was not an exception. While my MRAs were normal, the echocardiogram showed that my mitral valve is starting to get leaky. This isn’t really surprising with a connective tissue disease, but it’s certainly not a “yay!” moment. For now it’s fine though, just something to keep an eye on in the future.

The thing that is really annoying and troubling is that my echocardiograms tend to show elevated pulmonary arterial pressures. The very first time this happened, I had to get a cardiac catheterization test to get a more accurate measurement of the pressures. Thankfully that was normal, but the test itself had so many complications that it wasn’t funny. A twenty minute test took two hours and resulted in a puddle of my own blood on the floor. Fun. With the echos though I always worry that the pressures are something that will slowly get worse until it is a real problem.

After the first echocardiogram, I started beta-blockers and was able to get my heart-rate under control. Because of this, my second echo showed much lower pressures. With this third one though, the pulmonary pressures have gone back up to nearly where they were before I was on any medication. And this is even after having gone up in dosage. I have an uneasy feeling that another catheterization test is in my future. But at least I hopefully won’t have to worry about it for another year. I just need to avoid getting anymore echos between now and then.

So that’s the impassive and straight-forward explanation of how the tests went. But I’ve been really struggling lately. I feel so broken and dejected. Currently I have people lining up to get away from me and I’ve just stopped caring. I was recently yelled at for pushing someone away, and the ironic thing is I really wasn’t then… I am now. I’ve completely given up.

It took me so long to write this update because I don’t know how to share how much I have truly been struggling and I didn’t know how to just ignore it and write a fake response.

Along with the scanxiety, and getting through them, I’ve been having some insane GI issues and have dropped 5 pounds. I have never had such constant intense nausea. Even the last time when I lost so much weight, the nausea wasn’t nearly as bad and I could at least eat. This was definitely not the case this time around. My mornings consisted of huddling in the shower curled up in a ball crying, hoping that the nausea would lighten up enough so I could fake it better and go on with my day. I had also inadvertently went on a liquid diet without even realizing it. I survived on Ensure and soup… at least, whatever soup I could stomach before giving up an hour later (I flushed half a bowl of cereal down the toilet…).

And that’s just my health.

PhD school is… hard.

And one of my closest friends trying to get himself killed didn’t help either. And my other friends? I swear I’m just an exit sign to them anymore. Step on over here and I’ll show you the way to leave.

I feel like I have no heart to give right now. I’m just trying to get comfortable with being dead inside because maybe then the pain will hurt a little less.

I think I’m getting better at it. I wrote that last line without crying…

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.

Best laid plans: I am a mouse

So I was desperate to avoid the whole doctor and test thing for at least a little while (read: a month! That’s all I wanted! Was it seriously too much to ask!?), but eventually I get to the point where I get symptoms that I just can’t ignore anymore.

If you’ve been reading my previous posts, you’ll know that apparently a toilet bowl full of blood doesn’t quite reach that limit. I can still explain that away as something relatively benign: “Oh, it was just a hemorrhoid, no big deal.” Last night however, I experienced SEVERE stomach pain which radiated into my chest and over my shoulders. Those two incidences alone might not have had me concerned enough to see a doctor (Yes, I know I’m a horrible patient), but even I couldn’t blow them off as two independent occurrences that have nothing to do with each other and probably don’t mean anything serious. So off to the walk-in clinic I went! I was hoping for a “You’re not going to die from bleeding out into your intestine, but yeah, make that GI appointment sooner rather than later.” Instead I got “Things don’t look quite right. Colonoscopy and endoscopy time!” Also, apparently she didn’t feel any hemorrhoids. There goes my easy benign little reason for the blood.

Well, that ends my break from docs and tests. I had a good two weeks right? Now, in the next two weeks (should I be worried that she’s trying to set them up within a two week time period? I would have thought a longer wait..) I have something else to look forward to instead! Yay!