The Hunt For a New Specialist

I see a new specialist in my future…. well, actually, probably two new specialists, but we’ll only discuss one with this post. Not long ago, I went to Urgent Care for pain in my neck. This happens to me fairly often and I used to just suffer through it till it got better, but now, quite frankly, I’m tired of my neck’s bullsh*t.

Nope. Not doing it anymore.

Give me the drugs…

But… anyway… what happens is I wake up with SEVERE pain, a HUGE knot in my muscles, and inability to move my head or, really, anything without almost crying. I’ve decided that I’m not dealing with the pain anymore when I can just go to Urgent Care and they can give me something to ease it.

With my last trip to the Urgent Care, they decided to do a neck xray. Apparently they find it really hard to understand “No, I didn’t have any trauma. I woke up like this. I have Loeys-Dietz Syndrome.” That was usually met with a blank stare…. So xray time. I wasn’t expecting anything to show up other than reversal of the cervical lordosis, which has been on previous xrays. But, as is the case with the Law of Medical Tests, something abnormal will show up eventually:

C-spine xray

“Mild anterolisthesis of C3 on C4 and C5 on C6” …. huh?

Well that’s new… Anterolistothesis is a type of spondyloisthesis which basically just means that my spine is now out of alignment. This sucks. This really really sucks. One of the cardinal features of Loeys-Dietz Syndrome is cervical instability that tends to lead to surgery. Now I have the beginning of it.

Don’t get me wrong. I LOVE that it’s “mild”. I am hoping it will STAY “mild”. But I think I at least need to enlist an orthopedist on my medical team.

I keep going on, living my life, trying to get through my PhD program, but silently, underneath it all, hidden and secret, the Loeys-Dietz keeps going on too.

Sometimes I really wonder which one of us will win?

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.

I’m Sorry

I have been overwhelmed.

Slowly things are starting to catch up with me. Some of it is physical. My illness is what it is, but sometimes that is overwhelming as well. What is dragging me down, even more though, is emotional.

This is something that rarely gets discussed because of the stigma associated with it. But depression, grief, anxiety…etc. are all very real problems with any chronic illness. Life, all of a sudden, takes on a quality that seems unbearable.

Pain. Fatigue. Failure…. The inability to keep up with peers who are not sick. The invisibility of the disease which acts as a nasty hidden secret, dragging you back, while making others wonder whether you are lazy. It’s depressing. It’s so very defeating.

I hate that I have to struggle and push myself to the breaking point for things that should be easy.

I really just want to sleep.

I really just want a break.

I really just want to give up….

I will admit that there are times I have prayed that God will end my hardships and take me home.

But I continue to fight and battle each day and do my best. I just wish I felt like it was enough.

I am sorry for being negligent with this blog. I am overwhelmed. I know I’m not alone with this feeling though.

 

Update: Watch and Wait

Since my last blog post I’ve had three doctor appointments and one canceled appointment (not by my choice). If you remember my post “The Remote“, I have been having more symptoms lately and have not been feeling so well. I have been really struggling trying to go to school and do my work in lab while feeling so weak and sick.

My first appointment was with an electrophysiologist, a cardiologist who looks at the heart’s electrical rhythm. My heart has been slowly developing more and more PACs which are turning into runs of SVTs. They feel absolutely horrible. As if my heart is trying to flip-flop out of my chest and I would really like for it to stop. I am trying to be proactive and get treatment started NOW, before it gets worse. Plus, I really wanted to stop taking beta-blockers and lessen the amount of medications I take.

This appointment pretty much killed my hopes though. The doctor said, for right now, that there wasn’t anything that could be done for the runs of SVT. He offered a new anti-arrhythmic  medication, but that seemed counter-intuitive to my desire of getting OFF of the medications. Plus I’m really afraid to add more and what the long-term consequences would be. When I told him I wanted to get off the meds, his response was: “There is 0% chance that you will be able to get off your heart medication.” Oh joy. Happiness. I think, the most frustrating aspect of this appointment, however, was that he didn’t seem to realize that I wasn’t seeing him for my dyasautonomia. Electrophysiologists don’t treat dysautonomias, which I knew, but I doubt that he believed I knew that. He spent very little time addressing my runs of SVT which was why I made the appointment in the first place. But at any rate, I am now on a “watch and wait” path. Basically, I am just waiting for the SVT runs to get worse or to progress to a different arrhythmia before we treat them. But it really really sucks dealing with unpleasant symptoms and not being able to do anything about it.

My second appointment was with my urologist. I was planning on canceling this appointment. I had made a compromise to myself that if I went to the electrophysiology appointment, I would cancel the urology one (I really really am not good about being a patient. I tend to ignore my health for as long as I can get away with it). But then I couldn’t rationalize canceling an appointment that dealt with something I really have been having trouble with. My  urine has been very dark lately (I’m not dehydrated!). It’s been much more frequent and persistent than normal and that usually means blood.

So I went to the appointment and had the urine test and it showed… Blood.

Shocked? I wasn’t. This is the 3rd time that I have been to this doctor’s office but the first time that they saw the hematuria for themselves. Finally they didn’t have to take my word for it anymore (doctors hate having to take a patient’s word for anything). Unfortunately, I was labeled “our mystery patient”. They don’t know where the blood comes from and why it’s happening. Right now we’re doing a “watch and wait” thing (starting to see a trend?). If my urine gets darker then we will repeat the CT scan and cystoscopy. I’m really really hoping it doesn’t get darker (I totally ignored the one time it did. It was only once though!!).

Finally, my third appointment was with Neurology. Everything has been fairly stable on that front and this appointment was just a check-up one. I did get a referral to an ophthalmologist though because my eyes have been getting more and more blurry.

The appointment that was canceled was suppose to be with my geneticist. I need to get my MRA scans scheduled, but due to the genetics office moving, my appointment was canceled. I am getting referred to a Marfan’s (another vascular CTD) clinic doctor instead. Loeys-Dietz patients need these scans every year or two to make sure that there are  no new aneurysms and no growth in current aneurysms. That’s the key to treating Loeys-Dietz: catching and treating the aneurysms before they kill me. In other words… Watch and wait.

So that’s my life for you: “Watch and wait”. While trying to juggle the appointments I do have, my symptoms as they worsen, and trying to be a full-time PhD student. It’s no wonder I’m so exhausted.

 

 

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.

The Remote

Having a serious chronic illness is like having a remote which controls your life, whether you pause it, slow it down, stop it… without actually being in possession of that remote. Something else has the remote and you don’t have a say in when it is used and which button is pushed. You are just left dealing with the consequences.

Lately my remote has been messed with and I would very much like for it to stop. Especially sense it came at a time when I was feeling fairly healthy. Almost guiltily healthy (which is a whole other ranting blog-post). But I was doing well. I had gained enough weight that I was starting to try to lose it (again… whole other blog-post). I wasn’t dealing with excruciating pain. I wasn’t fainting.

I was doing well and living a life that was fairly chronic-illness-free.

That’s when the remote came in though, and with seemingly one push of a button, my life stopped running smoothly.

It started slow at first with stomach pain that just wouldn’t go away. I started modifying my diet, eating safer foods, and was at a new, albeit a slightly more  exhausted: stable.

That stability came crashing down around me 5 days ago…or was it 6 days? I’m still having trouble remembering anything from those days. What I do remember is my heart completely going insane, making it impossible to walk very far. Distances that were no problem before, suddenly had me sitting on the sidewalk gasping for breath. I had no idea what I was doing half the time and couldn’t remember what I had done the other half. I still can’t.

I’m finally coming out of it a week later. Feeling exhausted. Feeling pain. But mostly feeling bitter about this invisible remote that can so easily pause my life, slow my life…stop my life?

Chronic illness

Mass Exodus of Doctors

Always, my goal is to try to reduce the amount of doctors I must see and the appointments I have scheduled in order to live as normal of a life as is possible with this disease/disorder. Lately I have been doing very well in meeting this goal.

I lessened the visits to one doctor, my pulmonologist, by calling, canceling the appointment and…uh… not rescheduling a new one. That’s probably not the recommended method of reducing the scheduled doctor visits I have, but it works. Plus, my breathing is fine right now.

In a much more recommended method: I was given the “make an appointment when needed” by my GI doctor. Fortunately, my weight has held steady and I’m not losing massive amounts anymore (granted, this comes with its own existential crisis that most American women face). I still fluctuate between intense stomach pain and nausea at times, but those are manageable with meds (Zofran is my hero) and are not affecting my life too much.

My nephrologist also set me free to decide when/if I need to see her again. I don’t have any explanations for why I waste magnesium and calcium into my urine, but it doesn’t seem to currently be affecting me too much and I’m willing to ignore it for right now. Otherwise, my kidney tests have all been normal. I sometimes still see the brown urine when I extend myself too much, but it’s not been consistent enough for me to bother with testing.

The third doctor who gave me the ‘all-clear’ was the osteoporosis/endocrinologist doctor whom I saw. I had a DEXA scan and while my T score showed osteopenia, my Z score was normal. We are going to follow the Z score for now until I get a bit older. She did recommend a treatment plan to raise my Vit D levels. The lower limit of a normal Vit. D level is 30. Mine was 17 and my doctors want my levels around 25. Having a slightly lower level of Vit. D is beneficial for me due to the wasting of calcium. So I am only taking a small amount of Vit. D supplements. I am hoping that they do have a positive effect on how I feel.

Overall my health has been pretty well behaved lately. I am glad to be able to reduce the amount of doctors I see on a consistent basis and I would be ecstatic if this could be a permanent reduction in appointments. Time will tell.

The only thing that has been steadily grumpy and getting worse is my heart. I’m really not sure what to do about the symptoms I have been having. I have absolutely no desire to increase the dosage of my beta-blocker or to add a calcium channel blocker. I think, in this case, the least unpleasant plan would be to see an electrophysiologist, but I’m not sure I like where that road leads. At least I have until October to decide what to do.

This disease sucks, it really really sucks, but at least I am holding my own against it 🙂

For The Sake of Normality

What do you do for the sake of normality? How far do you shove your reality down just to be able to claim that your life really is normal?

It does work. To a certain extent, but then reality always seems to catch up to me. Like an annoying fly that buzzes around me.

One of those annoying little flashbacks to reality happened with a cardiologist email. I had worn the heart event monitor (that I wrote about a few posts back) for a week, returned it to the doctor via postal mail, and had promptly forgotten about it. I really hadn’t cared enough to push for results like I would have done in the past. So I was pretty shocked when I got an email claiming that my monitor had caught runs of supraventriculuar tachycardia (SVT).

I wasn’t really prepared for that. It’s one thing to feel and suspect that something is getting worse, but an entirely whole other thing to be faced with the proof. My last monitor showed a hint of SVT in the form of Atrial Flutter. This one showed two runs of Atrial Tachycardia and I had only worn the monitor for a fourth of the time. My heart is definitely getting grumpier.

Little b*tch.

Oh well. I decided to ignore it until my next appointment in October. I will come up with a next step then. So I attempt to be normal…

Another interesting tid-bit that accompanies my illness, however, is the propensity for infections. This latest one clearly meant business:

Infection

Notice the red streaks? Yeah…

In less than 24hrs from when I got the blister on my toe, I had streaks of red going up towards my ankle. I was amazed. And in pain. Quite a bit of pain actually. Ouch…

There are a few times when an infection has almost turned into sepsis for me and it usually happens in the blink of an eye. One second I’m fine and I have it under control, and the next thing I know, the infection is clearly winning. This just happened to be one of those times.

The thing about rare diseases, is that it is sometimes hard to tell what is related to the disease and what is not. Loeys-Dietz is caused by a mutation in a signalling pathway that plays an important role in the immune system’s function. This means that my mutation could be the reason that I tend to get infections more easily. Or it could be totally unrelated. It’s hard to tell. This infection did earn me a course of strong antibiotics though.

Overall my life has been pretty un-exciting. Just a hint of “chronic-illness-flare” to make it seem a tad more interesting to people who lead healthier lives.

I do wish that “normal” could come a little more easily at times and I do begrudge the amount of time and effort I need to devote towards my health.

Imagine what I could have accomplished by now if I didn’t always have my health to contend with?

It almost makes me cry.

Your Handy-Dandy Guide to Connective Tissue Disorders

There are many different types of Connective Tissue Disorders (CTDs) with symptoms that are all very similar. One thing that holds true among all the CTDs, however, is that they are genetic/heritable (at least the ones I am discussing here). The two most common type in which genetic diseases are inherited are: autosomal dominant and autosomal recessive.

To understand what these mean, you have to first understand the genetics behind the disease. Most everything in our body is a product of our “genes”. A gene is a section of DNA that contains the blueprint for specific proteins. Everyone has two copies of a gene: One from their mother and one from their father. When a person inherits a genetic disorder, it means that either one or both copies of a specific gene is “damaged” ie. mutated.

With autosomal recessive disorders (like some rare types of Ehlers Danlos syndrome) you need both genes to be mutated in order to have the disorder, ie. you need to inherit a bad copy from both your mother and your father. If you only have one mutated gene, then you are a “carrier” without symptoms of the disorder. You can only have an autosomal recessive disorder if you have two mutations and you cannot pass the disorder to your children (although they would have 50% chance of being a carrier).

With autosomal dominant disorders (like most types of CTDs including the more common types of EDS, Marfan, Loeys-Dietz Syndrome…etc) you only need to have one gene mutated in order to have the disorder, ie. you can inherit a bad disorder-causing gene from either your father or your mother. This means that your mother or father would also have the disorder and that you have 50% chance of passing on the disorder.

Very rarely, someone can present with a new mutation and will not have a family history of the mutation. This occurs more frequently in some connective tissue disorders compared to others.

Here is a list of the more common CTDs and their associated genes (click on the disorder to be redirected to a more detailed explanation of the disorder and its symptoms):

Ehlers-Danlos Syndrome, Hypermobility Type – No known genes (Autosomal Dominant)

Ehlers-Danlos Syndrome, Classic Type – Col5a1 & Col5a2 (Autosomal Dominant)

Ehlers-Danlos Syndrome, Vascular Type – Col3a1 (Autosomal Dominant)

Ehlers-Danlos Syndrome, Kyphoscoliotic Type – PLOD1 (Autosomal Recessive)

Marfan Syndrome – FBN1 (Autosomal Dominant)

Loeys-Dietz Syndrome (Types 1-5) – TGFBR1, TGFBR2, SMAD3, TGFB2 & TGFB3 (Autosomal Dominant)

Shprintzen-Goldberg syndrome – SKI (Autosomal Dominant)

Homocystinuria – CBS (Autosomal Recessive)

Stickler Syndrome – Col2a1, Col11a1, Col11a2, Col9a1, Col9a2, & Col9a3 (Autosomal Dominant or Autosomal Recessive – depending on the affected gene)

*This post is written by a PhD Student with a background in genetics.

**This post does not contain all methods of inheritance and is an abridged list of connective tissue disorders. 

 

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.