A Highly Underdiagnosed Form of Dysautonomia

This semester, I am taking a course in physiological psychology. Although this class entails an incredible amount of work (as my teacher is the head of the whole psychology department at my school), it definitely appeals to me since the majority of the course material involves learning about the functions occurring in the human body, the chemical and biological processes that take place, and how all of this influences the brain and individual behavior. Needless to say, it’s right up my ally. One of our weekly assignments is to submit a reaction paper to a research article that relates to the particular topic of the week. So last week, the topic was on the human nervous systems. Obviously, I chose to review an article on POTS and Dysautonomia. I figured that it was a great way to spread awareness to both my professor and fellow classmates on this condition, seeing as though we were only learning about a FUNCTIONING autonomic nervous system. Anyways, I thought I’d share it, even though the article I reviewed had to be torn apart due to some inconsistencies in the writing. Nevertheless, I  figured it was still relevant since I finally got my official diagnosis of POTS after so many years and many of my friends/followers also live with some form of dysautonomia. Hope you enjoy!


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Postural Orthostatic Tachycardia Syndrome:

Reviewing Research on a Highly Underdiagnosed Form of Dysautonomia

            Health officials in the U.S. define a rare disease or disorder whenever it affects fewer than 200,000 people. However, it has been estimated that over 500,000 people in the United States are living with a debilitating condition known as postural orthostatic tachycardia syndrome (POTS), despite the fact that this disorder is still considered medically to be a rare condition. This is primarily a result of a doctor’s misdiagnosis or failure to diagnose. More often than not, patients receive a psychological diagnosis first, mainly as having some form of anxiety disorder, long before they obtain an actual diagnosis of having POTS. The average number of years it takes to get a diagnosis of POTS after onset of symptoms is about four years, alt hough I personally lived with this condition for almost 20 years before receiving my diagnosis two weeks ago. Given the limitations that this disorder can cause in an individual’s quality of life, more recognition and awareness in the medical profession is essential, including research into developing a diagnosis and treatment plan for this disorder. In the article, Postural orthostatic tachycardia syndrome: an under recognized disorder, the authors discuss the clinical manifestations of POTS syndrome, as well as clinical testing methods and patient outcomes. (Pandian, Dalton, Henderson, & McCombe, 2007).

POTS syndrome is a form of dysautonomia, which is a term used to describe medical conditions caused as a result of a dysfunctional autonomic nervous system. The autonomic nervous system is responsible for most of the automatic functions in the human body, including heart rate, blood pressure, temperature regulation, digestion, and even breathing. In dysautonomia, however, anyone of the autonomic functions can be dysregulated. In POTS, for instance, symptoms are defined through orthostatic intolerance where an individual develops “excessive tachycardia and symptoms of cerebral hypoperfusion on standing” (Pandian et al., 2007, p. 529). Often, those with POTS will experience dizziness and fainting shortly after they stand up, due to the increase in heart rate and decreased in blood pressure caused by blood pooling away from the brain and into the lower extremities instead. Given that POTS is an autonomic disorder, patients can additionally experience other wide-spread symptoms, including symptoms of gastrointestinal disorders, migraines, hot and cold intolerance, chronic fatigue, exercise intolerance, hypoxemia, and shortness of breath. While there is no cure for POTS, researchers are investigating therapies to reduce the amount and level of symptoms experienced.

While a lot information is still unknown about POTS, the researchers note in the article that there are several ideas as to the possible causes of this condition. This was most interesting, as many research studies have not focused on the potential for varying causes of POTS. One thought is that POTS patients have a “form of autonomic neuropathy manifested by an inability of the peripheral vasculature to constrict adequately in response to orthostatic stress”, which would explain the increasing heart rate and lowering blood pressure (Pandian et al., 2007, p. 529). Other views mentioned in the article focused on neurotransmitters and hormones as being the primary cause of POTS. For instance, one idea is that POTS is a type of β-adrenergic receptor hypersensitivity. Another is that “the serum catecholamine levels are often significantly increased when upright” (Pandian et al., 2007, p. 529). Finally, other theories mentioned in this article included patients having a genetic predisposition to developing the disorder, POTS being secondary to other disorders (like diabetes, sarcoidosis, or Sjorgen’s syndrome), or POTS being an unrecognized autoimmune disorder. Personally, I believe POTS, like many other neurological and physical disorders, can be explained by the combination of environmental, biological, and genetic situations.

In order to study symptomatology and medical testing on POTS, Pandian et al. (2007) studied 250 patients from 2003 to 2006. Researchers’ recorded demographic details, such as age and sex, as well as the patient’s individual symptoms, including duration, severity, and frequency of symptoms. Tests were performed to test level of autonomic dysfunction by using a tilt table study, heart rate response to deep breathing, and the Valsalva maneuver test. Researcher were able to assess outcome on the patient’s ability (or disability) to function normally; by being able to stand up without symptoms for 30 minutes, to maintain work, and ability to participate in recreational activities, without worsening of symptoms. The results of this study determined that the duration of symptoms lasted anywhere from three months to 20 years. “The common presenting orthostatic symptoms were light-headedness (100%), palpitations (90%), pallor (90%), weakness (80%), and clammy skin (80%). The mean heart rate increment during the tilt study was 51.7 14.3 b.p.m.” (Pandian et al., 2007, p. 531). Other symptoms noted by patients during the study were dry eyes and mouth, decreased saliva and sweating, nausea, bloating of the abdomen, cramping, diarrhea, constipation, weight gain or loss, satiety, and vomiting. Finally, out of the 250 participants, only five of the patients were functioning normally at follow-up visits as defined by the outcome criteria and four patients were considered worse off than when the study was initiated. Some of these patients were managing their POTS with pharmaceuticals, including beta-blockers, antidepressants, fludrocortisone, and pyridostigmine. Pandian et al. (2007) concluded that not only is POTS an under-recognized disorder presented by a variety of symptoms, but it also has the potential to be treated, although with inconsistent outcomes.

Overall, while I believe that this article provided a great deal of detailed information regarding the symptoms associated with POTS, there was quite a bit of data that was lacking as far as the actual research that was performed. The tests used on the patients are diagnostic tests that are considered current protocol in the diagnosis of POTS, and by using patients who have already received this diagnosis, the findings in this study are relatively insignificant, other than they confirm a patient’s original diagnosis. Also, in the introduction researchers mentioned the potential causes of POTS syndrome, but those ideas were not investigated in this study. It would have been interesting to compare the measurements of symptoms with the various testing they ran to other studies, such as DNA or blood testing, to determine the genetic or neurological causes of POTS. Considering I recently had my cortisol levels ran, which came back as being particularly low, my personal theory is that the neurotransmitter and hormone connection must have some sort of significance in the development of both POTS and other forms of dysautonomia, in addition to having a genetic predisposition to the disease that is environmentally influenced.

Also, Pandian et al. (2007) use the phrase ‘under recognized’ in their title and throughout their paper as a problem being associated with POTS, although they did not pursue studying the actual number of individuals with POTS that may not have received a diagnosis as of yet. While the researchers were using a true statement, since lack of a diagnosis has been identified in a variety of other research, I would have liked to have seen a random selection of participants, consisting of the general population, also studied using current diagnostic tests for POTS. Still, any research or information that brings awareness to this highly underdiagnosed and limiting health condition benefits all of those affecting by POTS, including the ones still left undiagnosed.

References

Pandian, J. D., Dalton, K., Henderson, R. D., & McCombe, P. A. (2007). Postural orthostatic tachycardia syndrome: An under recognized disorder. Internal Medicine Journal, 37(8), 529-535. doi:10.1111/j.1445-5994.2007.01356.x


Just stand still, look pretty.

But you don’t look sick…

My illness is only invisible because I decide what you can and can’t see.

Much of living with chronic illness is hidden from the outside world,

in an attempt to be as normal as physically possible.

So unless you live it yourself, you’re blind to it.

But nothing is truly invisible if you make a conscious choice to really open your eyes.

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So what does invisible illness really look like then?

Allow me to show it you.


You can see invisible illness in the things I do each and every day.

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Visible in the adjustments I make just to do everyday things.

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You can see it on the pages of my planner in which I write every appointment and daily to-do list.

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Or in my notebook that I take everywhere with me.

Otherwise, I will forget everything.

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Or the time I spend doing medical research,

hoping to find an answer for what the doctors can not find.

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You see it in the amount of caffeine I drink, just to stay awake.

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In how long it takes me to do the housework and laundry.

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Or how hard it is just to run simple errands.

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You can see it sitting on my bookshelf.

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In number of times I wash my hands in a day.

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Or the fact that a good portion of my time is spent hidden away in a bathroom.

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Illness doesn’t leave room for hobbies, much less the things that are fun.

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Invisible illness is seen in the never-ending doctor’s appointments and medical testing.

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Or the procedures I’ve had, despite knowing whether they will work or not.

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You see it in all the blood draws the doctors run regularly, trying to get a diagnosis.

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And the therapy appointments I attend just make sure I am not crazy.

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You see invisible illness in all the paperwork I have to complete and keep track of.

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In the two three inch binders that hold my medical records

which I need to bring to every doctor’s appointment.

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-one for clinic notes, one for labs/testing-

You see it in the summaries I put together to keep all my doctors on the same page.

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Or in the advanced directives, living wills, and Do Not Resuscitate orders.

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My illness is clearly visible in the medications I take  every day.

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You can see it in my oxygen concentrator and tank that help me to breath.

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In the duo-nebulizer that I keep at home

just in case an attack comes on and I can’t get to the clinic in time.

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 In my monitoring tools -in my blood pressure cuff and oximeter.

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In my heating pad and humidifier.

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My invisible illness is hidden deep inside my travel case,

full of emergency medications and supplies for when I leave the house.

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And in the lessons my husband has had to take to administer medication

or help me in case I can’t help myself.

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You see my invisible illness in the symptoms I try to conceal and hide.

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Just because it’s not easy to see, doesn’t mean it’s not there.

Do I look sick enough now?

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Because this is how I look at home, behind closed doors.

In real life, invisible illness is not so invisible afterall.

Remember that the next time you judge someone,

when you don’t believe they are as sick as they make out to be,

when you make them prove how sick they truly are,

or say “but you don’t look sick…”

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Keep Your Head Up, The Colors Are Beautiful

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Lot’s of new things on the horizon, so I figured I’d give a short update.

  • On UndiagnosedWarrior: Been updating and organizing pages, adding new information, noting some tips and tricks, and other things here and there. Take a look around and let me know what you think. I have some good ideas and really want to add more content for those looking for a diagnosis, as well as those who have already been diagnosed. And, of course, keeping you updated on my search for a diagnosis. 
  • On Life: I’m officially back out of work, but this time my short term disability has been approved. After the whole mess with getting a Lupus diagnosis, then having it taken away, then given back by a different doctor, I’m still confused as to whether or not I ACTUALLY have it.  I have a few tests pending and some recent tests that have come back with very interesting results (*Hint: It was enough to finally PROVE my disability claim). I’m waiting for the doctors to call to discuss their thoughts, so I don’t want to jump the gun on yet another diagnosis, so I’m going to wait to post, but I’ll update as soon as I can.

As for now,

I just want to leave you with the strength in knowing

 that all your struggles, all your hard work, and your persistence to keep looking 

IS WORTH IT!

I know it is hard to stay patient and that you are tired of waiting,

especially when  you have been sick for so long.

But waiting is always the hardest part. 

Keep trusting your instincts. 

Trust the journey.

You know your body better than anyone.

The answers lie WITHIN YOU.

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“Keep your head up
The colors are beautiful
When they say give up
Turn up your radio
All the sentimental memories you own
When they say grow up
It’s just like a funeral
Keep your head up
The colors are beautiful
Keep your head up
It’s all right in front of you
When they say wake up
You’re breaking ridicule
When all the sentimental memories you own
Keep you trapped inside your room there all alone

And it feels like
It feels like you’re lost
And it feels like
It feels like you’re lost

Is there some way you can be out on your own?
Trust yourself
Don’t waste another day at all

On your own

Keep your head up
The colors are beautiful
And it feels like
It feels like you’re lost
And it feels like
It feels like you’re lost

Is there some way you can be out on your own?
Trust yourself
Don’t waste another day at all

Watch this fade away
Everything fades away
Keep your head up
The colors are beautiful”

(“Head Up” by Sugarcult)