Having a Rare Disease

It is hard to fully describe what it is like to be diagnosed with a rare disease. I have had my diagnosis now for 14 months and I still feel lost. Denial and disbelief are common emotions to feel when sick. They are even more common in a population of patients that has no one to commiserate and empathize with. You see, that’s the catch, a rare disease is… well, rare.

I know this may seem obvious. A rare disease being rare, but have you truly considered what that means? It’s not just rare to the patient, but also to the patient’s family and friends. A rare disease is also rare to the doctors as well as, and most importantly, rare to the researchers – the people who are responsible for future treatments and cures.

But what does this mean? Practically, in every-day life for someone who has to live it? Aside from my family, who also have what I have, I have never met another person who has the same disease. There are no commercials for my disease. No one has even heard of my disease. So support from friends? Almost non-existent. Partially due to the fact that I don’t bother to tell many people, but also due to the fact that when I do tell some, they just don’t understand it. This isn’t for lack of concern or sympathy, but how do you understand something that you have absolutely no background knowledge in? I at least know first-hand what the rare-disease does to my body, if you can consider that a good thing. I don’t.

So what did I feel when I was diagnosed?

At first there was relief. I had an answer. Even more importantly, I had a name that I could use as a sort of defense. Before diagnosis, doctors would often say that I was either not feeling the symptoms as I said I was, or that my symptoms were due to anxiety. In case you don’t know, “anxiety” is a favored diagnosis for female patients who complain of any heart-related symptoms.

“Oh she has an increased heart rate with palpitations? Poor thing, her innately weak constitution (as is inherent in the female condition) is getting to her. Tsk tsk.” *sarcasm*

My diagnosis has been a defense against that. An almost unbeatable trump card. But what I hadn’t counted on is that doctors still don’t know what to do. Again with that tricky word: “rare”. I am often the first patient with my disorder that a doctor has seen. Most haven’t even encountered my disease aside from a brief text-book explanation years ago in medical school.

So what do I feel now, over a year after being diagnosed with a rare disease?

Loneliness and defeat. What do I do now? When does the fight stop? Fighting for care, fighting for support, fighting for understanding… all of that is something that people don’t consider to be automatically lumped in with “fighting for my health. Fighting for my life.”

I now understand that it all is lumped together. And I am tired.



Above everything else, with my disease, I am anonymous (or anony-mouse.. as this seems to be my “sick spirit animal” as featured in another post). I feel that if people were to know about my disease and how weak and sick I sometimes feel, I would be viewed and judged as “broken”.

This train of thought brings up a question that I have seen asked many times in the chronic illness community: Would you rather your illness be visible or invisible?

I see many different answers to this question, but the one that seems to be most common is: No, I do not want my illness to be visible.

You see, there is a catch-22 with this question. Having a visible illness means multiple things. You are clearly sick. Which means you are not faking it. No one will accuse you of being a hypochondriac or over-exaggerating your symptoms. While doctors may not know/understand what’s wrong with you, they probably will not say that it is all in your head. But then, on the opposite hand, everyone knows you are sick and they will make many assumptions based on that fact. With a visible disease, you are at the mercy of how people feel they should treat you instead of how you want to be treated. With a visible disease, you can never escape your reality. There is no hiding from your disease or hiding the disease.

And that’s the downside of a visible disease. There are many of my symptoms which are viewed as, at the very least, awkward, and at the most extreme? Disgusting or shameful. Like today, for instance, I went to the bathroom (already uncomfortable?) and when wiping noticed a bright read streak. I looked in the toilet bowl and saw drops of blood floating in it. There are some aspects of any disease which are found to be embarrassing or awkward. This is part of the negative stigma associated with disease.

Much more harmful, however, is that all too often, if someone views you as having something physically wrong, they will often assume that you also have something mentally wrong. So as soon as you present with an illness, your intelligence is questioned.

Working towards a PhD in molecular biology is a demanding and competitive field and I am terrified that any hint of my not being capable of doing something will mean an automatic disqualification from even trying. I am afraid that the strain of working towards a PhD will make my invisible illness more visible. If this does happen, I’m very afraid of how my advisor and fellow classmates will view me.

There may be a day when I am confident enough in my own abilities to not care how others may view my capabilities, but till then, I plan on being anony-mouse.

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.

It’s Not About You…

Dealing with a chronic illness is never easy. There are ups and downs and more sorrow than you can imagine or that can possibly be explained. So here’s a blanket statement that might make it a tad easier for friends and family to deal with: It’s not about you.

I know this may seem rude, but it’s really not meant to be. It’s just something that should be kept in mind.

It’s not about you… when I’m anxious. Chances are I’m scared or nervous about an upcoming appointment. Each appointment is like a huge question mark about whether the doctor will help me, blow me off, or call me a liar. They are nerve-wracking and terrifying and I get anxious right before the appointment and unfortunately respond with grumpiness.

It’s not about you… when I’m quiet. Pain and exhaustion take up a lot of energy and attention. If I’m being quiet, it’s not because I’m mad or angry at you. Most of the time I’m just hurting. A lot.

It’s not about you… when I don’t want to share. I live with my illness 100% of the time, 24 hours a day, 7 days a week… etc. Sometimes I just want to escape it. Sometimes I want to pretend that the doctor appointments don’t happen. That the medical tests are not a reality. My not opening up and telling you all about it does not mean that I do not trust you or that I’d rather keep things from you. It might just mean that I want to keep it from myself for a little.

It’s not about you… when I cancel plans. Ok, this one may seem obvious, but I feel it needs re-stating. If I cancel plans, it’s not because I don’t want to see you or don’t want to hang out, but is instead probably due to the fact that I’m not feeling well. Some days I look and act perfectly normal so it’s hard to remember that I am sick.

It’s not about you… when I’m angry. Unless I tell you straight out that I’m angry at you, don’t assume I am. I watch every day as people do things that I should also be able to do. I feel weak, insecure, tired, pained, and half of the time I feel like I’m a failure. It makes me so angry to know that I could do so much more if I didn’t have to suffer with this. So I get angry when I see or think about things that others do so easily.

I have a chronic illness and I do the best I can in order to get by day to day. Most of the time all I ask from my family and friends is a little understanding.

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.

I Wish I Just Had A Common Cold

Dealing with other people who have the common cold or an infection or some other virus that will eventually go away is something that I really struggle with.

It’s hard for me to listen to the whining and complaining.

It’s hard for me to see that person completely stop everything for a few days in order to get better.

It’s hard for me to be sympathetic.

It’s hard for me to stop myself from screaming GET OVER IT.

It’s hard.


I hurt. I hurt a lot. Every single day. I’ve literally screamed out from the pain. In fact, I do that multiple times a week. I’ve walked hunched over from the pain. It’s on the cameras in my dorm. I have the proof. Unfortunately. It’s not something I’d want others to see. So I hurt.

I won’t complain. if I complained every time I felt bad, every time I hurt, every time I thought I couldn’t handle it any more… I would complain every day. I don’t want to live with that. And frankly I wouldn’t have any friends if I did that. So even if I wanted to complain I won’t because I feel censored.

I can’t stop and just rest. This thing I deal with? Yeah, it’s going to be there for the rest of my life. I’m not going to be cured. There are barely any treatments (if any at all). So I can’t rationalize taking time off and just stopping everything for my illness. I would have to stop my life. And then what? What is worth at that point?

For that week that most people spend sick.. imagine living with that. Everyday for the rest of your life. I would like to think that earns me something. Some consideration when talking to me. Some help if I’m struggling. Something. Especially when I actually do take a rare moment and indulge in my pain and actually complain. For me to admit that I’m struggling and having a rough time is big. It’s not something I like doing. It’s a cry for help.

Unfortunately because it’s my “normal” or because I don’t look sick, my cry for help gets ignored.

So let’s have a reminder. Even when I’m functioning like a normal person…

I have still been dealing with weight loss. This is a serious sign of an illness. Why then is it so hard for me to make others realize the significance? (I have a fear that it is because they are jealous)

I have pain more days than not.  For doing things that most people take for granted. Working 8 hours kills me. I can barely walk home. When I say my muscles hurt, I have the CK levels to back it up. Eating hurts. Isn’t that supposed to be a pleasure in life?

I struggle to sleep most nights. How rejuvenating is a good night’s sleep? I wish I knew.

I have heart symptoms daily. Things that would send a normal person to the hospital. Yes, most of mine are benign. But I have proven a flutter, R on T phenomena, PACs that drop me in a dead faint, etc…

I stand up most nights just to drop down again in a faint. Have you ever fainted? It’s hard to control how you land? I’ve broken glass before. I’ve hit my head before. I’ve landed and sprained my joints before.

These things are my “normal”. These things are day to day realities for me and something that I won’t normally complain about. So when I do complain? Imagine then how much worse I must be feeling. I wish so much that it would matter to those around me. I wish for people to understand this and to have compassion. I wish for them to actually realize what exactly it means when I say “I don’t feel well”. I wish that saying those words would give me a break. Would let me be able to put down my guard just a little. I wish for all this so very much.

But it seems that it’s all given to people with a normal cold. One that goes away.

So I’m jealous.

So I’m working on it.

But it’s hard.



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.

5 Realities of Having a Chronic Illness Young

1)      You are the youngest in the waiting room:

Seriously, I get looks of amazement when the nurse calls my name and I actually STAND UP and FOLLOW her. Gasp! If it’s for a procedure, then I just sit there, feeling like a circus attraction while the other patients stare at me. The best are the comments from the nurses/doctors/technicians: “usually my youngest patient is in their fifties!”

2)      The comments:

“You’re too young to be dealing with that!” Gasp! They’re right! I’m cured!!! This isn’t a helpful or useful comment. If I open up enough to tell someone what I’m going through, or if it is that obvious that I’m dealing with something, saying anything about my age doesn’t help. Yes, I know I’m young. Yes, I know it’s a lot to deal with at my age. It’s an inescapable fact for me. I don’t need to be reminded by others.

3)      Patient care is definitely different for younger patients:

There are certain assumptions made. I can promise you that if I show up in an ER, I will get a pregnancy test and a toxicology test. It doesn’t matter how many times I tell them that I haven’t had sex or even seen a member of the opposite sex naked in a while, they will automatically assume I’m lying and ask me to pee in a cup. if I look dazed, disoriented, or confused, I will be tested for every possible street drug known to man. I am currently afraid to tell anyone about my weight loss for fear of being accused/diagnosed with an eating disorder.

Another aspect of this is that most doctors are used to following a specific treatment plan. If a young person develops something like osteopenia, osteoporosis, disc degeneration…etc. Their treatment will often be similar to that seen with elderly patients. After all hey’re common ailments in the elderly. When a young person comes in with one of these conditions, there’s a high probability that they’ll be treated with the usual treatment plan, without stopping to think that the very fact that a young person having this issue probably means there’s an underlying problem going on.

4)      Dating:

“Hi, my name is Jane Doe, I’m your average sexy grad. student and if you play your cards right, I’ll let you come to my cardiology appointment!” As far as baggage goes, having a chronic illness is not a “carry-on” sized bag.

5)      Lack of understanding/support:

This one is particularly true for those with an invisible illness. Often when a young person is complaining about fatigue, pain, nausea…etc. it is assumed that they are just lazy and are whiners. They need to ‘suck it up’ and get through it. I attempted this past semester to maintain a full course load along with a part time job. Everyone else my age is able to do this and more. I struggled, however, and risked both my job and grades as well as seriously impacting my health. My fellow classmates/professors/coworkers thought I was lazy and whinny. i am still trying to overcome the negative opinions of my coworkers who mercilessly mocked me for calling off so often. And my classmates got to enjoy the added boost I gave to their self-esteem, thinking that they’re more capable and better than I am (competitiveness in grad. school can be crazy).


This is by far, not an exhaustive list. There are many many more pitfalls that I have not mentioned. They’ll probably make an appearance in future posts 😛