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?


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?



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.


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.

The Glass Ball

It’s been a little while since I posted. As my last post alluded to, life certainly doesn’t stop. It caught up with me for a few weeks and left me incredibly busy. I am applying to PhD programs, working, doing research, and went to visit my mom for a little to help her with some things around the house. So with all that, I put my health on the back-burner. Plus I needed a break. I’m lucky in that I can escape from the realities of my conditions for a little while. This doesn’t mean that I can act fully normal. I still get tired and still have pain and I know that pretending to ignore it will catch up with me.

My mom compares life to juggling. She says that the health ball is made of glass. Once you let it drop, it breaks and you’re done. No more juggling. I think my little hiatuses from my health are like tossing that glass ball really really high. I can ignore it for a while. But once it starts to come back down I have to scramble to catch it and return to my normal juggling.

So I just caught my ball. It’s pretty and shiny and I’m trying to get back into the swing of things with that stupid ball. I gave bloodwork today, and as usual, it was off just a little. I have low osmolality. I have no idea what that means, but I hope we can just ignore it (maybe I’m not ready to start juggling again). I really don’t want to have to do more tests. I also recently called my geneticist to learn about the results of that bloodwork. My acylcarnitine profile, urine organic acids, and very long chain fatty acids were abnormal. I have absolutely NO idea what that means either. I don’t even know how or what was abnormal about them. So I asked what the next step was going to be. Apparently I’m either going to get genetic testing to explore the different types of EDS or an aneurysm genetic work up. I think they might do both though. I was also told that mitochondrial diseases are still on the table due to abnormal tests. I may have to repeat those tests. Overall EDS and mitochondrial disease seems to be the two diagnoses that I’m looking at at the moment. Hopefully I’ll find out more at my my appointment next week.

After the genetics appointment, I have appointments scheduled with a neurologist, gastroenterologist, ophthalmologist, nephrologist, and my general practitioner. I may find a new cardiologist. I better learn how to juggle again.

The “Law of Medical Tests”

Disclaimer: This law may only pertain to me… clue me in as to whether others experience this please!

According to this law, I will have an xxx number of medical tests that will come back normal until I reach a critical limit and get an abnormal result back. What makes this particularly unusual is that the abnormal results can be completely random. For example, I just had a series of blood tests ordered by my nephrologist. I got back 5 normal results (Yay! I don’t have Hepatitis!) and therefore earned an abnormal result. I wasn’t really expecting anything to be abnormal. I knew I didn’t have hepatitis (2 of the tests ordered), I didn’t think I had vasculitis (2 more of the tests), and I thought my complement was fine (another 2 more of the tests). Turns out I was partially right on that last part. This is where the law stepped in. My C3 is just dandy. My C4, however, is a bit low. I have NO idea why this would be. I have NO idea what it means. I was NOT expecting it. And that’s how the law goes… it happens whether I’m expecting it or not. So now I have a test result saying that there’s something funky going on with my immune system. I’m really curious what this will mean for my next appointment. I am slightly worried that this may lead to a kidney biopsy in my future.

So now I’m seriously considering asking for a CBC with every series of tests or a CPK. Something that I know will come back slightly abnormal and will fulfill the “Law of Medical Tests” requirement without adding anything new and random to consider. I don’t think it matters what is abnormal as long as something is.