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 🙂

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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. 

 

Loeys-Dietz Syndrome: Patient Voices

One of the most devastating aspects of having a rare disease is that all too often patients feel alone and isolated. Loeys-Dietz Syndrome (LDS) patients are not exempt from this. Their voices are cut short because others have never heard of their disease and therefore cannot understand the impacts that Loeys-Dietz Syndrome has on them. Awareness and understanding should never be taken for granted. A doctor’s awareness of  a disease can save a life and a friend’s awareness can offer comfort. Here are a few patients who are willing to offer insights on how LDS has affected them in hopes that maybe others can better understand:

“LDS sucks. You are constantly worrying if you really just have the flu or if you’re dying.” -Crystal, mother of 5 year old Xaviar,  TGFBR1 mutation

“Frustrated and exasperated! I’ve already been diagnosed with LDS, an aortic root aneurysm, stomach aneurysms, and an iliac aneursym.” -Monica, TGFBR1 mutation

“My wife passed away in 2003 before it was diagnosed as LDS and my daughter has been diagnosed with LDS type 1 and had aortic root replaced and aortic valve repaired in Nov. 2014. [She] had a left vertebral artery stint May 2015.” -Alan, TGFBR1 mutation

“LDS doesn’t just effect our hearts physically, it also emotionally tears our hurts apart because it takes our loved ones from us.” Amanda, TGFBR1 mutation

“Inheritance sounds better at the lawyers office than the doctors office.”…”From one of my Drs several years ago, ‘Why do you insist you have something? You are fine. You don’t have anything but nerves.'” -Elizabeth, SMAD3 mutation

“Heart surgery at some point to repair aneurysms -often multiple surgeries – is a given with Loeys-Dietz patients. I had my first heart surgery on June 23rd, 2015. I had a 5 inch section of my aorta replaced and my aortic root replaced with a mechanical one. Now, for the rest of my life, I have to take blood thinners. I’m 31 years old.” – Amanda, TGFBR2 mutation

“My son Simon was born in 1991 and was diagnosed with LDS in 2012. The diagnosis was a coincidence after investigations when an aneurysm of the aorta was found during his pectus bar operation. Simon was at first shocked. He expected that Loeys-Dietz would be excluded…. He lives his life. He is a great son.” -Karin, mother of Simon, TGBFR1 mutation (translated to English)

 

LDS Heart

We are LDS Strong!

The “Law of Medical Tests” Part II

In the past I have talked about the Law of Medical Tests. This law (which may only pertain to me) states that in any given number of medical tests, one will be abnormal. All too often, it will be a completely random one that can’t really be explained by my having Loeys-Dietz.

So what was this round of normal/abnormal tests you may ask?

Well, like last time, this started with a nephrology appointment. The nephrologist ordered a round of testing before I even saw her. Most of it was routine and was normal. Including the thyroid tests (Stop testing my thyroid!). My vitamin D, however, was low. I already knew that the levels weren’t where they should be. I’ve had that test before and it was low then too. This really isn’t uncommon and probably half the people who are tested will show low Vit. D levels. The problem with this result, however is how far it dropped. Last time, my result was 29 with the lower limit being 30. I wasn’t concerned with it being only one point out of range. Plus, it’s not a problem till it gets below 20 anyway. This time though it was 17. Well… I guess that’s a problem now huh?

I think I’ll just ignore it till my appointment at the Bone Metabolism Clinic in June.

But at any rate, that should have fulfilled the Law right? That’s my abnormal test result right?

Right?!

Nope.

I also had to do a 24 hour urine test which measured different electrolyte levels in my urine. Now, for anyone who’s ever done this test, you know that it sucks. Really sucks. Like really really sucks.

I had a jug of my own urine in my fridge.

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This is what nightmares are made of…

I was especially frustrated with this test because I was fairly certain that it would come back normal.

Ha.. funny…

Apparently I have elevated levels of calcium and magnesium in my urine. Wonderful. Fan-freaking-tastic. Loving it… Not.

So what does that mean? Good question. So what do I do about it? No clue. What’s next? Umm… Well, I got referred to a urologist. Another specialist. I am not amused.

Seriously though, I would like to give this disease back. It’s not meeting my requirements for a semi-normal and reasonably easy life.

Dear….

…Skin,

How do you manage to not only get cut, but scar so easily?!? Seriously, the pant fabric wasn’t even ripped and I have a scar? Toughen up.

Dear Heart,

They say everyone marches to the beat of their own drum… That does NOT MEAN YOU!!! Stay in rhythm dude!!

Dear Joints,

Keep it together guys! Seriously.. you have one job. Just one. I know it’s not fully your fault. Misters Ligaments and Tendons can’t get their acts straight, but you gotta show them how it’s done Joints! Work on it. Please. Okay?

Dear Muscles,

You got this… you’re tough. There is absolutely no reason you should come crying to me every time you feel like you can’t handle something and my waking up with you hurting is not acceptable. How strenuous can sleeping really be?! Seriously. Stop with the hurting ok?

Dear Brain,

I know that Mr. Muscles is pissing you off (especially in the neck area)… I’m working on it. Just back the f*** off with your constant headaches ok? Got it? Good…

Dear GI Tract,

I don’t even know… I mean, do YOU even know what you’re doing? Kudos on not letting me get fat, but at least let me keep some of the weight ok?

Dear Kidneys,

Put the blood back into the bloodstream. You cannot keep it and It does not belong in urine.

That concludes our monthly meeting. You all  have your assignments now. Please work on them and do better…

There Is No Balance With An Illness: I Just Fall

I feel like I’m walking a very narrow walk-way without knowing where the drop-offs are. Not just that though… even if I could see clearly where they’re at, that doesn’t change the fact that they move on me. Once this walk-way was nice and clear and safe, now it’s a drop-off… Good to know. Oh wait, I didn’t know. I just fell.

So what on Earth am I talking about?

Well, to be fair, I don’t even know what I did do to cause the massive amounts of muscle pain that I have right now. I didn’t know I fell off of the stupid “drop-off” until I was suffering from the effects of having fallen. It came as such a shock to me, when I woke up, got out of bed, went to walk, and fell (Literally fell, bet you didn’t see that coming?). Lots of stabbing horrible pain from my calf muscles. I don’t know if it was the shock of the pain or that I was just unprepared to support myself through the pain, but down I went.

Maybe it was my staying up too late that caused it. I’m not sure why exactly lack of sleep causes muscle pain, but I can’t think of anything else that I have done recently that would make my body so pissy. But whatever. I’ll deal (and I really really try not to think about the fact that I have no choice but to deal with it).

Another drop-off that I had the pleasure of finding? Alcohol and me had a fight. It won. I ended up waking up on the bathroom floor very disoriented. Oh, and I do so love throwing up blood. Fun. Gives me joy. You should try it (Ok, I’ll try to cut back on the sarcasm… try..). I know that alcohol and me do not particularly get along at times, but I wasn’t drinking in excess… in fact, I’ve had much more to drink in the past than I did last night. Also, I like to think that every other college student, many of whom seem to major in drinking, aren’t all throwing up blood and then passing out on the bathroom floor (and let’s just be honest here and say that they are drinking WAY more than I did last night). Yeah, I know, not every other college student has Loeys-Dietz Syndrome either. I bet they’re jealous..

I probably shouldn’t have had alcohol on the same night that I fainted and fell on my head anyway.

I’m not the brightest.

Don’t tell my professors though. They’re still passing me for some crazy odd reason. Although, that may change after my test on Monday.

So yeah, life as a PhD student with a chronic illness rocks and I can totally do this.

Scanxiety and Other Sorts of Horrors

Scanxiety: It’s not just for cancer patients these days. With Loeys-Dietz, I have signed up for a life-long subscription of looking for little ticking time bombs. Is this the year I will have a brain aneurysm? Does that blood in my urine mean a renal aneurysm? Is heart surgery in my near future?

This condition and I are going to have so… much… fun…

But whatever, I’ve survived this year’s scanxiety. All of my MRAs (Magnetic Resonance Angiograms – not even the doctors know the difference!!) were normal. I’m so relieved! I’m going to go ahead and take this as a free pass to ignore any sudden sharp pains for a while. I’m pretty sure now that they’re not a sign that I’m going to die.

I still hate echocardiograms though. And this one was not an exception. While my MRAs were normal, the echocardiogram showed that my mitral valve is starting to get leaky. This isn’t really surprising with a connective tissue disease, but it’s certainly not a “yay!” moment. For now it’s fine though, just something to keep an eye on in the future.

The thing that is really annoying and troubling is that my echocardiograms tend to show elevated pulmonary arterial pressures. The very first time this happened, I had to get a cardiac catheterization test to get a more accurate measurement of the pressures. Thankfully that was normal, but the test itself had so many complications that it wasn’t funny. A twenty minute test took two hours and resulted in a puddle of my own blood on the floor. Fun. With the echos though I always worry that the pressures are something that will slowly get worse until it is a real problem.

After the first echocardiogram, I started beta-blockers and was able to get my heart-rate under control. Because of this, my second echo showed much lower pressures. With this third one though, the pulmonary pressures have gone back up to nearly where they were before I was on any medication. And this is even after having gone up in dosage. I have an uneasy feeling that another catheterization test is in my future. But at least I hopefully won’t have to worry about it for another year. I just need to avoid getting anymore echos between now and then.

So that’s the impassive and straight-forward explanation of how the tests went. But I’ve been really struggling lately. I feel so broken and dejected. Currently I have people lining up to get away from me and I’ve just stopped caring. I was recently yelled at for pushing someone away, and the ironic thing is I really wasn’t then… I am now. I’ve completely given up.

It took me so long to write this update because I don’t know how to share how much I have truly been struggling and I didn’t know how to just ignore it and write a fake response.

Along with the scanxiety, and getting through them, I’ve been having some insane GI issues and have dropped 5 pounds. I have never had such constant intense nausea. Even the last time when I lost so much weight, the nausea wasn’t nearly as bad and I could at least eat. This was definitely not the case this time around. My mornings consisted of huddling in the shower curled up in a ball crying, hoping that the nausea would lighten up enough so I could fake it better and go on with my day. I had also inadvertently went on a liquid diet without even realizing it. I survived on Ensure and soup… at least, whatever soup I could stomach before giving up an hour later (I flushed half a bowl of cereal down the toilet…).

And that’s just my health.

PhD school is… hard.

And one of my closest friends trying to get himself killed didn’t help either. And my other friends? I swear I’m just an exit sign to them anymore. Step on over here and I’ll show you the way to leave.

I feel like I have no heart to give right now. I’m just trying to get comfortable with being dead inside because maybe then the pain will hurt a little less.

I think I’m getting better at it. I wrote that last line without crying…

I Slept The Day Away

I’ve been exhausted. Like spend-99%-of-my-time-wanting-to-cry-because-I’m-so-tired exhausted. PhD school is exhausting with a lot more work involved than I knew. For example: Monday through Friday, I wake up in time for my 8am class which lasts till 10am, I then walk to the lab where I do my research till 4-5pm. Somewhere in there I need to find time to study (Did I mention that anything below an 80% is considered a failing grade?). That alone is exhausting.

But for a Loeys-Dietz Syndrome patient, and a newly diagnosed one at that, things start to get a little more complicated. So let’s take away the fact that LDS itself causes pain (pain takes up so much energy… It’s unbelievable..) and focus just on the doctor appointments and tests required.

I haven’t had any scans since getting diagnosed and it’s starting to drive me insane. I know now that I’m more likely to have aneurysms. I know that I’ve had doctors who thought that I might have an aneurysm (which never got checked). I know that my grandfather currently has three aneurysms. I do NOT know, however, IF I have any aneurysms. And that’s driving me insane. I just want to know what little ticking time bombs I’m living with… I want to move on with this diagnosis and my life.

So I made an appointment with a doctor at student health services to get the scans set up, along with an echocardiogram, and get referrals to any specialists I might need. The appointment started off with the nurse saying “Oh, we don’t even have Loeys-Dietz listed in our system as a disease”. That’s when I started to have my doubts. But I gave the nurse, to give to the doctor, my latest genetic report, my genetic results, and a few papers I had printed off about Loeys-Dietz.

To my surprise, the doctor came in after having clearly read the papers. Mind you, she was still very lost about what Loeys-Dietz was and how to handle it, but she was obviously very interested to find out (read “she ordered a lot of tests”. My thyroid’s fine. I have proof. Again). But the end result of this first appointment, along with the follow-up one I had had two weeks after, is that I now have three MRAs scheduled for the end of the month and many specialist appointments in the near future. The doctor wants to set me up with a: cardiologist, neurologist, neurovascular surgeon, pulmonologist (this one has a bit of a backstory that I’ll go over at another time), and a gastroenterologist. She also tried to set up an appointment with a rheumatologist but I said no to this one.

But the point I’m trying to make here, is somehow I need to do the PhD thing between 8am-5pm every day while taking time to study after 5pm (because it’s definitely not happening before 8am). And somehow finding time somewhere to see these specialists and get the scans. Doing a PhD program and being a full-time patient is intense.

I’m exhausted.

So today I slept the entire day and it felt wonderful.

Well There Go All My Plans

I could die.

I have been struggling for the past month to wrap my mind around this diagnosis and trying to come to terms with what it means. There are so many new factors in my life that are realistic possibilities now.

I might need open-heart surgery…

I had a path before me, it was so carefully constructed and I had put so much work into it to make it what it was. I’m starting PhD school this year.

I could die.

The path I had always envisioned was never easy. PhD school isn’t easy. It requires hard work and a dedication that is almost unimaginable. 40-80 hour work weeks on top of already taking classes. I would work over weekends as well.

I might need open-heart surgery…

I don’t know how to do that with Loeys-Dietz Syndrome. I don’t know how to work this into the path. With the yearly scans (if I’m lucky) or the surgeries (if I’m not lucky) everything has just become so much more complicated. I know that plans never go as expected and I know that complications will always arise, but this just seems unfair. I don’t know how to do this. I never planned for this. I am so close to achieving my dreams and just so horribly close to losing them all too.

I could die.

And it terrifies me.