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.

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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.

New Cardiology Appointment

For around two years now I’ve had the same cardiologist. Maybe in the beginning she was a good doctor. That was when she thought I was dying and she acted pretty quickly to get the proper tests. Once the cardiac cath. showed that I was not dying, however, she suddenly seemed to have lost interest in trying to help me. I guess I lost all patient-appeal when I was no longer a patient with a terminal illness. So anytime I went to her with a problem, she would just increase the dosage of my meds. After one particularly horribly disappointing appointment, I found myself crying in a stairwell. In that stairwell I finally decided that I was never going back.

So I found a new cardiologist, with whom I had my first appointment today.

The appointment started off with a nurse getting some background information. I usually hate this part because it’s awkward. “Do you have a history or urinary tract infections?”…”Er, no… but I’ve had blood in my urine… it wasn’t an infection. I didn’t have kidney stones either…yeah…” It’s hard to give a medical history when things don’t fit a normal picture. So once we got past that awkwardness (and really, it’s not hard for me to make something awkward), she took my bp, pulse, and an EKG and then left me in the room to wait for the doctor.

Who appeared within a minute (That happens?! I was totally expecting to live and die in that room before he came in…). I however, became instantly wary when he asked why I needed a cardiologist. He asked what a 25 y/o was doing there. He asked who referred me. I was terrified that I had found yet another doctor who seemed to already be convinced that I was fine before even examining me.

Turns out it was just his method of trying to get to the reason I was there… Once he started looking through the records he had (most of them from the geneticist) his first comment was “you’re a complex case” While that’s not what everyone wants to hear, it is much better than him calling me a hypochondriac. So I was a bit relieved to hear it.

Then we went through the “Oh my geneticist feels strongly that I have either Classic or Vascular EDS and is testing me” bit. He asked me if I was flexible. I performed some circus tricks. He cringed. He then tried to tell me how horrible vascular type can be and I reassured him that I have a strong family history of aneurysms and therefore already know.

It’s freaky to hear your doctor say “Poor…” over and over while reading your report.

His commentary was pretty funny though: “You had a DEXA scan?!?…oh.. it showed something…” He needs to realize I’m a young person with old diseases or he’s going to be in for some unpleasant surprises. I can’t wait till he reads my GI scopes reports (although I’m not sure why a cardio would be reading those…).

So I finally have a cardio who seems to be able to handle “complex cases” without getting scared and without throwing drugs at me hoping they’ll do something. In fact, he doesn’t even like that I’m on the beta blockers at such a young age. Unfortunately all that means that I need to have a stress test. I’m definitely afraid of this test. I know it’s going to be unpleasant at the very least. Oh well. I’m still hoping for some answers and maybe a bad stress test will give me a chance at a solution/cure. Silver lining?

Am I My Illness??

Does my illness define me?

This question has haunted me for a while now. I call it a “mirror question”. A question that I’m afraid to truly ask for fear of what I’ll find out about myself.

For a while, I had thought that perhaps I was my illness. Maybe it was something that I had let define me. But worst of all, I was afraid it was something about me that I  liked. I would stay up at night thinking “what would I do if I didn’t have these symptoms?” and to my horror, I felt upset at the idea. So did this mean that I had let my illness define me?

No.

My illness does not define me.

It took me a little bit of time to realize that, but first I had to be brave and finally face my “mirror question”. When I finally thought about it however, I realized that the lack of knowledge about what was affecting me was the thing that was making me upset. This is a bit tricky and a tad convoluted, but I hadn’t quite realized that if I didn’t have my symptoms, then I wouldn’t be sick. All I had considered was that I would have to start all over in trying to figure out what was wrong.

Once I realized that this was my hang up, I was able to answer my question honestly: If I didn’t have these symptoms I would do everything that I already am doing, but it would be a lot more easily done.

So what am I?

I am a Masters student in biology. I will soon be a PhD student in cellular biology (I got accepted into three programs!!!). I work full-time hours. I have many hobbies that I enjoy. I have friends who I hang out with.

So what does my illness add to this equation?

It makes everything so much harder. Those full-time hours? Being a graduate student? Those are so very hard to juggle by themselves, but with an illness? It’s a challenge. And that’s me being modest about how much of a challenge it actually presents. Often, I feel like a failure, because I can’t do it as easily as most people seem to be able to. I have limits. My illness gives me limits.

I would give anything to be able to get rid of those limits.

ER Update

I rarely go to the ER. In recent memory, I have only gone twice before. The first time I thought I was dying (Spoiler alert: I didn’t). The second time I wanted to make sure my kidneys were ok (This trip earned me my first nephrology appointment). But the point here is that I rarely rarely go. Normally I go to an Urgent Care clinic or I make a doctor appointment. I just don’t do ERs. And I especially don’t go for something like pain… I can put up with that at home right? Wrong. So very wrong!

To be fair… I attempted to go to the Urgent Care clinic first.

To be honest… I really didn’t put up a fight when they suggested the ER.

My day started off alright. I woke up with no pain. Walked over to the mirror in no pain. Then I stretched. PAIN!! All of a sudden something cracked in my neck, my muscles all went into spasm, and I could no longer move my head without excruciating pain. I also had a wave of panic that I had seriously screwed up my spine. I was terrified that one wrong move would result in something worse than pain. I get a little paranoid when it comes to my spine.

So I took a shower, hoping that the warm water would relax it. When that didn’t work, I called my mom (yes, I still call my mommy when I’m sick) telling her what happened and that I was going to go to Urgent Care. Once there, I sat in the waiting room for 2 very painful hours. When I was finally taken back, they performed an xray which showed that the vertebrae were fine. Then the lovely doctor came in, told me everything was good, that I could go home, and that I should take Tylenol for the pain. That was the point where I burst into tears. Sobbing that Tylenol did nothing and that my stomach couldn’t take any more NSAIDs (Throwing up blood? Yeah, not fun.). I think that was also the point where the doctor finally realized how much pain I was truly in. He suggested I go to the ER to get a CT scan and get it looked at better. So that’s what I did. The end result was that there was no new damage to my spine, but my muscles were being completely pissy. Thankfully they sent me home with a muscle relaxer and some vicodin.

It took about a week for the meds to relax the muscles. That was pretty much the week from h*ll.

In other news… I got a new toy!

Dammit doll 1Dammit doll 2

 

 

 

 

 

 

 

 

 

I’m sure this will come in handy in the future!

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.

Update: Nephrology Appointment

Today was my 2nd nephrology appointment and overall it went pretty well. At least, as well as someone with a rarer illness can expect it to go. For one thing: My doctor actually did RESEARCH! I was stunned!! Aside from my geneticist, he’s the only one who said something about EDS that I didn’t already know!! Something relevant to my current symptoms! It was amazing! And for another thing: He consulted another specialist instead of just giving me a referral! Yes!! This means a LOT. I’m tired of having an ever-increasing list of specialists whom I go to. It’s exhausting and slightly depressing. These two things alone made the appointment amazing and they have nothing to do with my actual health. This goes to show how important doctor behavior is though. 

As for what came of the appointment, things are a little… frustrating… As is normally the case, the very first thing you do when seeing a doctor is to get weighed. This was one of the things I was most anxious about. Unfortunately, I’ve lost more weight and I’m down to 118lbs now. This isn’t a drastic change and it’s not like I’ve lost a huge amount of weight suddenly, but it’s not normal for me. It’s a new symptom. It’s concerning. It’s consistent. And it’s annoying as h*ll that I can’t get any doctor to take it seriously! It’s like they’re waiting till I finally crash before addressing it. Frankly, I’d like to avoid the crash that will happen if this continues. But oh well. Either way, it’s not a kidney doc’s place to worry about my weight anyway.

Since all my kidney tests came back relatively normal, the next logical step would be seeing a urologist and performing a cystoscopy to see if there’s anything going on in my bladder that could be causing the bloody urine. However my nephrologist consulted with the urologist (aren’t I smart for knowing all these different doctor specialties??) and they decided that, because of my EDS, it was too much of a risk at the moment to do a cystoscopy. With EDS, tissues can be fragile and “friable”. This means that I’m prone to being easily damaged and to easy bleeding. I wasn’t really surprised to hear this, especially since my GI scopes showed friable tissue. Why should my bladder be any different? Personally, I’m happy to bypass the whole shoving a scope up my pee-hole thing anyway. Not my idea of fun. So I was given two possible explanations: 1) I have bladder diverticulum (which is associated with Classical EDS…something I didn’t know) which can bleed, explaining the bloody urine. Or 2) I could have a renal aneurysm (which would be more possible with Vascular EDS). These rarely bleed, but it’s still a possibility. Since I’m getting tested for both of those types of EDS, I guess they’re both likely. The nephrologist believes I have the Vascular type, but I’m not so sure. I do have a family history of aneurysms though so I can’t really rule out a renal one. 

In the end, we decided to do a “watch and wait” approach. I’m completely fine with this though since I was getting tired of running through all the medical hoops. I need a break. I’m not sure I would have been willing to undergo a cystoscopy at the moment anyway. There’s something so very demoralizing about undergoing a procedure with the whole IV thing and sedation and hospital beds.. even if it is outpatient. So I get a free-pass for 6 months at which point I will do repeat blood work of the tests which I had abnormal results on. But for now…. Freedom!! Life is good 😀 

Weight-Loss

Weight-loss is a tricky sticky subject. Everyone wants to lose weight until you don’t. And at that point, you really don’t. Heaven forbid that you’re still losing weight though because then all the walls tumble down and open up allowing anyone and everyone to judge you for something.

“You’re actually upset that you’re losing weight?! I’d be grateful!”

“Who complains about losing weight? You’re not even that skinny!”

“You can afford to lose the weight…”

You’re too skinny! Put some weight on!”

“Just eat more!”

“Do you have an eating disorder??”

There is no end to the judgement that pours in when any topic about weight-loss comes up. This is a HUGE reason behind why I’ve let my latest symptom just sort of blow over. In the past few months I’ve lost around 10% of my weight. I was hesitant to say anything because 1) I still weight a normal amount (121lbs), 2) I didn’t want to be accused of an eating disorder (seriously, I’ve been obsessed with eating MORE calories just to counteract any future accusations), and 3) I really really don’t want to hear that I should be grateful or that others are jealous or that I should eat more (Really!? Because I am too STUPID to think “Hey, I’m losing weight…maybe I should eat more! Brilliant!”). 

So completely stupid “eat more” comments aside… it’s horrible that someone can feel scared and vulnerable enough to admit that they are unintentionally losing weight (fully knowing that this is a very weight-loss geared society) and they are told to be grateful. Grateful for what?? Imagine all the possible reasons for losing weight without trying when normally it is so difficult to do. They aren’t pretty thoughts: malabsorption, GI obstruction, organ failure, cancer…etc. The idea that the weight-loss could be due to any one of those reasons is TERRIFYING. And then with any new horrifying thing the question always comes up.. “what will happen to me?” Worst case scenarios run rampant through the mind and they’re hard to tame.

So I’m scared. I have seen others with my disorder go through this sort of thing. I’ve seen how they eventually move to a fully fluid diet. And when that fails I’ve seen them get feeding tubes through the nose or directly into the stomach. And when that fails I’ve seen them go to total parental nutrition. All of this is an extremely rare complication of Ehlers Danlos but it happens. It also happens in mitochondrial disorders or metabolic disorders. Or maybe I won the lottery and have a whole new different possibility to deal with. Or it may be nothing. But a 10% weight-loss is a LOT when I’ve done absolutely nothing to provoke/earn it and haven’t weighed this little for years.. 

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.