Genetics Results Part 2: Hello Loeys-Dietz Syndrome

There. I’ve finally said it. I’m beginning to face the reality of my new diagnosis and accept it. I never expected this. Loeys-Dietz Syndrome is similar to Marfans Syndrome and Vascular Type Ehlers-Danlos Syndrome, only it’s worse. With Marfans and vEDS you operate on an aortic aneurysm when it gets to the size of 5cm. But with Loeys-Dietz patients you operate on the aneurysm when it gets to 4cm. This is because the aneurysms with this syndrome are much less stable than with the other two syndromes.

I looked up the life expectancy of Loeys-Dietz Syndrome and with no medical treatment, it is 27 years old.

I’m 26.

Luckily though I have had treatment since I was 22 and my geneticist even said that the meds I’m on are probably saving my heart and the reason I’m not worse.

So yeah, I’ve been in a shock when my genetics results showed an abnormal gene that is linked with Loeys-Dietz Syndrome. This is a connective tissue disease that is very new (having only first been discovered in 2005) and is not very well known. There aren’t many patients in the world with this disease and the type that I have is apparently (as I’ve been told by others with it) seen in only 2% of Loeys-Dietz Syndrome (LDS) patients. So I’m RARE. Like super rare. It sucks to be rare.

Now I need scans. Specifically an electrocardiogram to measure my aorta as well as an MRA or a CTA from head to knee to check for aneurysms. Fun. Remember a long time ago I wrote this post saying that my nephrologist suspected a renal aneurysm? I guess now I have to take him seriously. The hard part though, because I moved to a new state, is going to be finding a new PCP, educating him about Loeys-Dietz Syndrome, and convincing him to order these tests and send me referrals to all the specialists I need.

So much FUN!

But I’m coping.

Genetics Results Part 1: Goodbye Ehlers-Danlos Syndrome

Since my last blog-post I have been unsure about how to write the next couple of blogs. I eventually decided to do a two-part-results reveal. This is partially because I believe that saying “goodbye” to EDS should be a post in and of itself. But I am also not quite ready to share the results of my genetic testing for several reasons (one being that I would like to remain anonymous still and right now I’m sure that my family is currently googling the abnormal gene and the condition it’s associated with). I will share one thing though; I do not have Ehlers Danlos Syndrome.

I started this blog as a method of detailing my journey with EDS and also to raise awareness. While this blog is only a little over a year long, I have known about and suspected EDS as my diagnosis for over 5 years. I have researched it, I have joined support groups for it, and I have advocated for it. Ehlers-Danlos Syndrome has always played such an integral character in the story behind my health.

For many years I just assumed that EDS was my answer and didn’t bother looking any farther or getting a formal diagnosis. There is no treatment, there is no cure, and I just didn’t see the point in going through the hoops. After a while though, as I started to get worse and to become more and more sick I began to realize how beneficial a diagnosis could be. Once I started developing the co-morbid illnesses that go along with EDS (such as POTS, Gastroparesis, MCAD,…etc.), I realized the importance of having a diagnosis… It makes doctors take you seriously. With a diagnosis of EDS doctors know what co-morbid diagnoses to consider. With an EDS diagnosis maybe I would have had a Tilt Table Test to check for my POTS right at the start of my search, instead of after countless other tests. Above all else though, a diagnosis would give me credence. I wouldn’t be the hysterical female who is clearly a hypochondriac. I would be the young patient with a genetic disease.

So I started down the road towards getting a diagnosis of EDS. After the first appointment with my geneticist, when I was told that I wasn’t going to walk out of that appointment with a diagnosis of Hypermobile Type EDS, I realized that the diagnostic process was going to take longer than I thought. Next I was confronted with the idea that instead of Hypermobile Type, I might actually be diagnosed with Classic Type or possibly even the scarier Vascular Type. Always though, there was the underlying belief that I would eventually be diagnosed with EDS. Sure my geneticist listed several other conditions as a differential diagnosis, but EDS was always the assumption.

The majority of my blog posts had tags of “Ehlers-Danlos Syndrome”, “EDS”, “EDS woes”,…etc.

But it’s not EDS.

I do not have Ehlers-Danlos Syndrome.

So this is my “Goodbye”. I have decided to keep the earlier blog posts the same. I will not remove or change the tags. Nor will I delete the ones where I have talked about having EDS. But from here forward I will start to talk about my new diagnosis. If any of my readers have a question concerning EDS, however, or just need someone to talk to who understands the disease and the process of coming to a diagnosis, please pleases feel free to comment and/or ask me anything.

Goodbye Ehlers-Danlos Syndrome.

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.

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.

The 2nd Genetics Appointment

I finally had my genetics follow-up and am not sure how I feel about it. At my last appointment, so many different possibilities were listed as potential diagnoses. I was confronted with the possibility that not only do I have a connective tissue disease (EDS), but I may also have something else as a comorbid condition.  The doctor listed so many possibilities: Inborn Errors of the Metabolism, Mitochondrial Disease, Alport Syndrome, liver disease/cancer, thyroid disease, Polycystic Kidney Disease…etc. Essentially, instead of getting answers, I got more questions (and an intense urge to consult Dr. Google). My second genetics appointment was very much the same.

I thought that I would start to get things narrowed down at my second genetics appointment. That’s what the first round of testing was right? To be able to rule out some things, pin-point other things? Turns out I was partially right. What I didn’t account for was that for everything that was ruled out, a new diagnosis was considered. I don’t have Polycystic Kidney Disease, but now we’re testing for porphyria. My Alpha-Fetaprotein test was normal, so we’re testing Carbohydrate Deficient Transferrin (I don’t drink).  The three tests that were abnormal didn’t even yield me any answers. They were just repeated.

So what did I learn? As previously stated, I don’t have Polycystic Kidney Disease. I also don’t have Alport Syndrome or thyroid disease (seriously.. I feel like I’m the ONLY person who doesn’t have thyroid disease). I probably don’t have a fatty acid oxidation disorder. I’m fairly certain I don’t have liver cancer (I still have no idea what made her run that test).

So what is she testing me for now? She re-ran the three abnormal tests: urine organic acids, very long chain fatty acids, and acetylcarnitine profile, along with a bunch of other tests (eight tubes of blood and two urine samples). I think ultimately the mystery disease will either end up being some rare metabolic disorder or a mitochondrial disease. She’s testing me specifically for MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy) because of my GI symptoms, but I really don’t think I have that type. I’m not sure about my having porhyria either. Some things fit and some don’t. I think whatever I do end up having though is going to be an unusual presentation.

One perk about having my appointment at Children's is that the blood draw rooms are awesome.

One perk about having my appointment at Children’s is that the blood draw rooms are awesome.

I loved the frog room :D

I loved the frog room 😀

Along with the testing, the geneticist performed another exam. Yay for more pictures! This time she only took a picture of my hand, elbows, and knees. This makes twice she’s taken these same pictures. She also went over my flexibility again, along with reflexes and eye movements. Apparently I have slightly “brisk” reflexes, tremors, and a nystagmus. Who would have thought? Not sure what all that means though and honestly it could mean nothing.  Hopefully I’ll get at least a couple of answers when I read the appointment summary letter. Till then, I’m taking this whole experience as a crash course in patience.

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 Genetics Appointment

I mentioned a looonnngggg time ago that I was making my “EDS pilgrimage” to the geneticist to finally get officially evaluated by a geneticist. While many doctors have said that I have EDS, including a rheumatologist, many other doctors won’t consider the diagnosis to be true, however, unless it’s from a geneticist. So off to the geneticist I went!

The appointment itself was very long. The first half hour involved a genetic counselor asking me  about all of my symptoms and also my family history. In fact, the family history took up a large chunk of this time period and I only have one parent’s history to offer. I wasn’t expecting them to ask about my medical history or care too much about my symptoms since they asked for medical records before hand, but they were definitely interested in every single little thing with that too.

After that, the doctor came in and performed an evaluation. She measured EVERYTHING. Including, for example, the distance between my eyes (2.4cm). She asked me to perform certain moves to test my flexibility, making sure to tell me that they were not normal ranges of motion and shouldn’t be done. She listened to my heart, checked my eyes, checked my abdomen. She did the full work up…seriously, she even wrote down that I have gray hairs! After that she took pictures. Looottttsss of pictures. I have a weird palmar crease. Picture! My elbows are seriously flexible. Picture! Flexible hands? Picture! She even took a picture of my tongue!! It’s like a whole new world going into a genetics appointment. Thankfully I was told today that I pull off the hospital gown look.

After the evaluation, she discussed a lot of things that were a possibility and the reasoning behind her theory. This was rather confusing to me because there was a lot going on and a lot to take in. This is the main reason I haven’t written an update about the appointment yet. I got copies of the appointment summary today though so I can better relay what she is thinking now.

For one thing, reading a genetics report can be very unflattering. I have “simple ears” which are low set. I have a small jaw. I am disproportionate (more on this later). But on the plus side, I have remarkable extremities and soft skin! Overall, I scored a 9/9 on the beighton scale. They pointed out at the appointment that my flexibility was rather astonishing and this is coming from a doctor who sees EDS patients all the time. Unfortunately she (the geneticist) seems to be leaning towards more vascular diagnoses. She wants to test me primarily for Vascular-EDS. I am also being tested for Marfans, although she said I may just have Marfan overlap due to the disproportion of my limbs. She’s also testing me for Loey-Dietz Syndrome and TAAD (Thoracic aortic aneurysm and dissection). Those are all icky vascular diseases that have a high rate of aneurysms and dissected aneurysms. Not a good thing. I am also being tested for Classical EDS, which is the type I thought I may have all along.

Unfortunately, she doesn’t think that EDS (or one of the other above connective tissue diseases) is my only problem. She was very emphatic on my having something other than just the EDS going on. She mentioned the possibility of another connective tissue disorder, like Alport Syndrome, which is a terrifying kidney disease. I don’t believe I have this one. It doesn’t match up very well. I may also have a mitochondrial disease or a metabolic disorder. This is based on the fact that my CPK levels are often above the normal range (I’ve had 4-5 tests and only one of them had normal levels….barely…) and also because of the blood in my urine. It would be great to have that stuff explained, but it’s terrifying to wrap my mind around another problem. I hate to say it, but a mitochondrial disease would  explain a lot of things for me though and I wouldn’t be surprised to be diagnosed with one. I’m intimidated by the idea of it however.

All in all, the appointment revealed some very terrifying possibilities. And the future might not look as pretty or as easy as it once did. But one IMPORTANT thing that happened is I don’t feel like a hypochondriac. Not when her report states that I “have clinical features which are concerning.” I feel so much more validated and that is a HUGE weight lifted off of me. I am certain now that I’m doing the right thing by going to the doctors and doing all the tests. There is a reason for me to be doing this and it’s not all in my head.

Update: ER Trip

I’ve only gone to the ER once before in the past 10 years or so. I try to avoid going to the emergency room at all costs and it takes a lot for me to finally go. I went last night. 

Some background: I had a yoga class on Monday. I was scared to go to yoga, fearing that with all the funky things going on with my body of late I would crash hard. My latest symptoms, a little over a week ago (continuing the two week trend of experiencing new random horrible symptoms) was my vomiting old blood (I learned a new medical term: Coffee Ground Emesis! I think I would have been better off not having learned it). I didn’t know at the time what it was so I didn’t go to the ER then. Once I did learn I figured that since I have a GI appointment soon, I can get it taken care of then. But between that and my overall feeling like crap, I was worried. I managed to survive yoga without much trouble though! Yay! Go me!

It was the next day, Tuesday, where things started to go down hill. I was in so much incredible muscle pain that I was to the point of crying at work. It got so bad that I eventually broke down and took Aleve (a drug that I had stopped taking since the vomiting blood incidence). A lot of Aleve o.O (Not “OD” a lot, just a lot for me). That in itself didn’t send me to the ER. What finally convinced me was the brown urine. 

So off to the ER I went. The doctor checked me out. Confirming that I need a scope (colonoscopy and endoscopy…yippee…) but didn’t address them then since the GI appointment is now in only 5 days. He did do a urine analysis, a renal function test, and a creatine kinase check. I have a lot going on in my urine. On a scale that is measured with: trace, 1+, 2+, 3+ and 4+. I have hemoglobin (3+), protein (2+), ketones (trace), and bilirubin (1+) in my urine. I keep thinking that at least now I know the brown urine is “only” due to blood and then having to remind myself that that’s not good. So I think at some point I get to see a urologist. My CK levels were also increased which isn’t so cool, but I already have been tested for that (although, it was slightly terrifying when the doctor kept looking at my calf like a slab of meat and talking about a muscle biopsy…even after I said that I had a normal EMG). My renal function tests were good (Thank God!). Although, my anion gap was slightly increased and my carbon dioxide levels were low. 

So now at least I know when I have the brown urine, it is “just” blood. I’m not exactly sure if that’s good news or bad news though. Another thing for me to get taken care of I guess. 

In other news, I have a genetics appointment on Friday!! This is like a pilgrimage type thing for those of us with EDS haha. I’m hoping she can connect all the dots and maybe even supply some answers (like why I have blood in my urine, stool, and vomit!).