Rare Disease Day: Loneliness

Somehow I manage to miss Rare Disease Day (Feb. 28th) each year. I’m always late to the party and one step behind (this is a particularly bad habit when it comes to birthdays…). Maybe it’s because I don’t know what to write for Rare Disease Day. Maybe it’s because I feel particularly useless and like an impostor.  It’s hard to write a blog post when you feel like a fake with your own disease, while having no one around who can empathize or who have gone through similar things.

I think that’s the thing that sticks out the most with a rare disease: It’s lonely.

I watched a documentary of a patient who had a rare neurodegenerative disorder. When he got diagnosed, he said that what he felt the most was the incredible loneliness of it all. That one word stood out to me. Loneliness. Yes. Overwhelming, unbearable, heart-breaking, self-destroying…loneliness.

I have never met someone, unrelated to me, with my rare disease.

No one with my rare disease, in my online support groups, lives in the same state I do.

My doctors ask me how to spell and pronounce my rare disease.

My doctors and my family’s doctors ask me how they should treat the rare disease.

My rare disease has no cures and no effective treatments.

There are no commercials of my rare disease. No awareness walks or marathons. No fundraising events for a cure.

People with rare diseases? We are the forgotten ones in the medical field. We are the ones who the doctors hate, with our odd symptoms, our rareness, and with our life-long, life-threatening, incurable rare diseases.

Having a rare disease means fighting for a quality of life, struggling with tasks that should be effortless, and even battling for your life….alone. Yes, friends are there and are helping to push you through, but in the end, they can’t battle for you and they don’t know what it’s truly like to have that battle.

So what does my rare disease mean for me? What should you equate with “rare disease”? Loneliness. Heart-breaking, depressing loneliness.


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.

Rare Disease Awareness

Rare Disease Day came and went (in February) and I didn’t write a blogpost. That makes me a pretty bad rare-disease advocate doesn’t it? Oh well, better late than never….

So what does it feel like to have a rare disease?

It’s like I can’t breath. I am going through my day, and all of a sudden something catches me, draws me back, and I’m left gasping.

It’s like I can’t function. I will be living my life normally, when all of a sudden I am reminded that my life is far from normal. Nothing says “abnormal” like wearing a heart monitor to your 8am class.

But most of all? Having a rare disease is like being gagged. I feel constantly silenced. In a society were it is expected that people are always cheerful, optimistic, and ok, while looking on the bright side of things, there is very little empathy for someone who says “well, actually, I’m not doing very well.” There is even less empathy for someone who is not doing well because of a disease that is very rarely known and never heard of.

Admitting to having a rare disease is like admitting that your skin is actually purple. It’s incomprehensible to most people, hard to relate with, and the real tragedy of a rare disease is the fact that even most doctors have never heard of them.

Imagine watching a loved one live and possibly die with a disease that no one knows and that has no treatment.

Imagine the loneliness and sorrow and having to deal with all of the pain on your own.

Because, you see, there are no commercials for a rare disease, no charity walks, no people showing up at your door with a cooked dish…nothing. There is nothing in the way of support with rare diseases.

It really is enough to take your breath away.


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.

5 Realities of Living With a Chronic Illness

Don’t hate me for being one of “those people” but I’m going to jump on the “The Fault In Our Stars” bandwagon here. I know that many people have fallen in love with this book/movie and that even if they can’t relate as well with the characters, they can live through their stories and appreciate it. After all, who doesn’t love a good “sick person” story every now and then? And there certainly has been an increasing number of them coming out lately (personally, I want to watch Red Band Society). They make good stories after all. As long as the average person can put it down or turn it off at the end of the day and return to normal daily life.

For me, however, these stories tend to really hit home. There are so many messages in it that the chronic illness community has been trying to espouse for years now:

  1. We are NOT inspirations for the simple fact that we EXIST. This is the basic function of life. Existing. You might as well find a virus inspirational. After all, they exist without even being alive. Now that’s talent! Seriously though, just because life happened to give me a different challenge than it gave you, and just because you can’t imagine yourself with my particular challenge, does NOT mean that I am inspirational for dealing with it.
  2. We ARE excluded. We are looked at strangely. We are avoided. We are talked around. We are talked about. We are so many things that you THINK we don’t know about. I know why the elderly couple in the waiting room keeps glancing at the strange 20- something young adult and whispering in hushed tones. I know why I’m given the shocked looks when the nurse calls my name and I actually stand up and follow her. I know that my co-workers talk behind my back about all my call-offs and doctor appointments. I know what that worried glance means when I’m sitting or laying on the floor in a public place. As if you’ll actually be required to step in and do something. And how distinctly uncomfortable my pain is to you.
  3. Are we worth it? This is a thought that often runs through our minds every day, multiple times a day. “Great, he has this sick pathetic person as a mate. He must hate what I have become. I am such a burden.” How can we not think that? Doctor appointments aren’t fun. Would you want to go to them weekly? We don’t. We certainly worry that our friends and families don’t either. I go through phases where I just want to hole up and hide. Don’t look at me. I’m shameful. I want to be sick in private. It’s my own personal shame that others shouldn’t be subjected to.
  4. There is pain. There is always pain. I may look at you and say I am feeling fine and dandy and that today is a perfect day…but… that is only because I am referencing it to another day that wasn’t as fine or dandy. A day that was hell and that makes this day look like a warm cheery bonfire. My scales are different from another person’s. If you lived in pain every day, you would start rating a normal 2-3 as a 0 or 1. After all this is the baseline. This is the normal. Also, this goes back to #3. If we are feeling particularly insecure about our illness, we will hide how it affects us.
  5. There is fear. There is always fear. Chronic illnesses are uncharted territories. There is no easy guaranteed course that our disease will take. There is no promises that once A happens, it will lead to B, then C is next…etc. All there is, is a big huge UNKNOWN. And that is freaking terrifying. Many people try to comfort us by saying crap like “well I could get hit by a bus any day” or “We’re all dying”. It. Is. Not. The. Same. I’m facing dying by a lingering possibly progressive, painful disease. I’ll take the bus next life-time.

There is so much involved in being sick and the longer you’re sick, the more there is to deal with. Living with a chronic illness has a huge learning curve and there is a lot to get used to. Often times you are faced with the choice of not telling anyone that you are sick, in order to be treated normally, or telling people and then living with the stigma of “being sick”. That’s not an easy decision to make.

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 😛

To Someone Who Doesn’t Understand

To Someone Who Doesn’t Understand:

Let me explain to you the terror and anguish I feel with this disease. I know you have trouble understanding how much this impacts me. How I can be scared at one point and laughing at the next. What you don’t understand is that each smile, each laughter, each happy moment covers fear and hurt and pain. I am told this is a benign disorder. That there’s nothing wrong with me. I am ignored by doctors. I am made to feel like a hypochondriac. When I go to the hospital I am brushed off. I have no where to turn and it’s all often too much for me to handle myself. I am told to just live with this “benign disorder.” To just deal with it.

So what do I “just deal’ with?

I faint. Often. Anywhere and anytime. Sometimes it is in front of strangers. Sometimes it is in front of family. And sometimes it is by myself. I scare people when I faint in front of them. They look at me like I’m a circus freak. Yet shockingly very few rush to my help. I have fainted in a store, fast food restaurant, at work, at school, at home, in the bathtub, in front of friends, alone… How often have you fainted? Do you even remember the last time? I have had to lay down in a restaurant bathroom, stairwell, elevator, ER, next to my bed… If I don’t lay down, I faint. To make one thing perfectly clear: Fainting is NOT benign. I have had a bloody lip, I have hit my head, scratched myself, bruised myself, dislocated joints, subluxed joints, bruised bone…I have woken up in a bathtub full of water, thankful I didn’t drown.

It’s not epilepsy. So I am told it doesn’t matter. This doesn’t mean I don’t convulse. I don’t have epilepsy but I do have psuedo-seizures. I fall to the ground, I loose control of my body and I seize. Can you imagine how it feels to not be able to control your limbs, but lay there helplessly as they move of their own volition? And these are the few times I am conscious. Often I just hear about it from an observer.

It’s not a “severe heart condition.” So I am told to ignore the chest pain, the tachycardia, the bradycardia, the arrhythmias, the hypertension, the hypotension… An heart rate above 200 is benign and then when it goes below 60? Despite happening in the same heartbeat? That’s also benign. Can you imagine having a heart rate that is so variable? It feels SICK.The premature contractions are nothing. It doesn’t matter that I physically feel ill everytime they occur. Hundreds of times a day. Heart disease is the number one killer. Everyone is told to go to the ER with chest pain. When they feel discomfort or pressure in their chest. I am told to ignore it. Would you ignore it? I can’t ignore mine. Most people ignore mine.

Every move I make, my heart could go crazy. Every time I move, I could faint. There is no mercy. This can happen in public or in private. I live with this every second. It is always in the back of my mind. This is the nature of the disease I live with. And yet I am told it is benign.


Awareness: I feel like I struggle alone.

Everyone preaches “Awareness”. You see all the facebook posts and hear all about the walks and charities. Awareness is a big thing for those who have a disease. But why? Why does it matter whether YOU have heard of MY disease? Especially a rare disease which only affects less than 200,000 in America.

Excellent question! Luckily I have an excellent answer!

When you are diagnosed with a disease, you expect the doctor to be able to tell you what it is and how to fix it. If it’s incurable than you expect them to at least treat it. The rarer the disease is, however, the less likely that you’ll get this. Patients with rare diseases end up knowing more about what is affecting them than what the doctors know. When this is the case, the patient gets very little validation. You see, that’s a key thing about awareness. The patient gets support, either through professional help (doctors, treatments…etc) or through emotional help (friends, family…etc).

There are no doctors within an hour radius who know what to do with me. It sometimes makes me feel like a hypochondriac, like my pain isn’t real. There are no commercials spouting out “EDS can have a detrimental affect on your daily activities…” There are no Facebook wild-fire posts that preach awareness. I have NEVER seen a marathon for EDS or any sort of charity geared towards research and a cure. With EDS, I am pretty much alone. My family and friends have never heard of it before the diagnosis. They don’t know how it impacts me. They can’t comprehend my limits. There is no way they could because they had never heard of my disease beforehand. Without the awareness, very few people know, and that makes me alone. I struggle alone.

Yes, there are support groups. These matter to me so much. They validate what I feel, they let me know what to expect, they are a support system. But these people live miles, states, countries away and are often only a support in a virtual way. They, however, are also sick. Even if they were close, I would not ask someone else with EDS to help me lift something heavy, or to come with me to the hospital, or to grab me something from the store….because while we can take care of each other to a point, we are each fighting our own battles and sometimes are not capable of being there for someone else. 

With Ehlers Danlos, the greatest thing I wish for (aside from a cure) is understanding.