Rare Disease Day 2013

Today, February 28th, 2013 is Rare Disease Day! Even though you have probably never heard of Postural Orthostatic Tachycardia Syndrome before visiting my blog, it really is not rare! It is, however, rarely diagnosed. Due to its volatile and poorly understood  nature, exact statistics of individuals affected by POTS/ Dysautonomia are unavailable, but  many experts estimate that 1 out of 100 people have POTS.

There are several  forms of Dysautonomia, many of which are rare. Some forms are connected with rare genetic conditions or with rare autoimmune diseases. Approximately  30 million Americans are afflicted with a rare disease. Medical professionals are taught "When you hear hoof beats, suspect a horse, not a zebra." Therefore, patients who present with odd symptoms or diseases are referred to as zebras because they don't fit traditional medical descriptions. Their symptoms (hoof beats) are not connected with the more common illness patterns (the horses).

Just medical jargon for FREAK, I guess ;)

Sydney the Zebra/ Freak

(source)

POTS - I have it, I don't smoke it

POTS. Postural Orthostatic Tachycardia Syndrome. It is not in any way gardening, drug, or cooking related. It is a type of autonomic nervous system dysfunction; a Dysautonomia. The autonomic nervous system (ANS) controls all the automatic bodily functions that you don't think about, such as breathing, heart rate, digestion, and even the way your pupils react to light. Obviously, when those vital functions are disrupted, lots of problems can arise. There are several types of Dysautonomias - each one has its own distinguishing features. Postural Orthostatic Tachycardia Syndrome is a particular type of Dysautonomia in which, simply put, the body cannot adjust to the forces of gravity.

When a "healthy" person stands, the body uses a variety of biological mechanisms (via the ANS) to counteract gravity and prevent too much blood from leaving the heart. The heart rate may also increase slightly. However, when someone with POTS stands, the body does not respond correctly and those  biological mechanisms don't work. Too much blood leaves the upper body and pools in the abdomen and extremities. The message the brain sends to the heart to speed up is exaggerated, which results in an extremely inappropriate fast heart rate in an attempt to circulate the blood back to the heart. In reality, this is actually a very dangerous physiological response. The fast heart rate (called tachycardia) can trigger dangerously low blood pressure in some patients (I am fortunate enough to be one of them), as well as a number of other ANS symptoms. Here is a list of problems that can occur as a result of an ANS that has gone amiss:

- Palpitations/ skipped heart beats 

- Nausea 

- Joint discomfort 

- Chest pain 

- Muscle pain 

- Various other pain 

- EXTREME fatigue 

- Shakiness 

- Cognitive/ memory difficulties 

- Insomnia

- Orthostatic hypotension (low upright blood pressure) 

- Orthostatic intolerance (inability to remain upright)

- Exercise intolerance 

- Syncope/ pre-syncope (fainting)

- Cerebral hypoperfusion (lack of blood flow to the brain)

- Thermoregulatory problems (temperature issues)

- Dehydration 

- Headaches 

- Digestive problems 

- Shortness of breath 

- Severe dizziness 

- Tachycardia (fast heart rate)

- Bradycardia (slow heart rate)

- Visual disturbances

This is not an exhaustive list, and not every patient will experience the same symptoms. As with symptoms, individuals experience varying degrees of illness. Some are only mildly affected and lead normal, productive lives. Others are bed/ home-bound. Most fall somewhere  in between the two. Oftentimes, Dysautonomia conditions can  present after a physical illness or trauma, but they can also occur without a distinguishable cause (known as idiopathic). They may  occur as the result of another illness or completely on their own. Due to the variability of these conditions, Dysautonomias are notoriously difficult to diagnose. They are, unfortunately, a group of highly misunderstood disorders. Many physicians are unfamiliar with autonomic nervous system problems, and too often mistake them for psychiatric disorders (more on that later).

There are no cures, only trial - and - error therapies to treat the symptoms and underlying causes (if present). So congratulations! You made it through this post and *hopefully* understand what POTS/ Dysautonomia is! 

As you can see, the Tachy Life isn't a glamorous one. But understanding it makes you look really freakin' intelligent, so go out into the world and spread your new-found knowledge (and maybe earn some points in biology class)!

Sydney       

** Disclaimer  ** This post is NOT intended to diagnose or treat any medical condition. Only a licensed physician is qualified to do either. If you are concerned about particular symptoms, please consult a medical doctor immediately.

For more information, please visit http://www.dinet.org/pots_an_overview.htm 

  

About

I created The Tachy Life as a sort of therapy for me and as a way to educate others about Dysautonomia and what it's like to live with a debilitating chronic illness.

I was born with a heart defect called Congenital Complete Heart Block, which causes my heart to beat at less than half the normal rate. I have had 4 pacemakers since I was 15 hours old. When I was in the eighth grade, I started having some palpitations and chest pain. I also noticed during a routine pacemaker check that the device was not in its proper place. I went to the cardiologist and was completely dismissed with nothing more than a chest x-ray and the advice to take ibuprofen for the pain. The same scenario was played out for 4 years with the occasional misdiagnosis thrown in the mix, all while I watched my high school career pass me by. I received a diagnosis of Postural Orthostatic Tachycardia Syndrome, a type of autonomic nervous system disorder (Dysautonomia).

At one point in my senior year I realized the reality and gravity of the situation; that I wasn't getting better. In fact I felt worse. The meds weren't working. We were (and still are) in the trial - and - error phase of treatment. College became an iffy subject. But I, in my delusional state of denial and in a desperate attempt to be independent, went off to JMU. For the first month and a half, things were just peachy. I hardly had any symptoms and could run several laps around my side of campus a night! I felt normal - healthy. But the lack of sleep and physical rest caught up with me. My symptoms started up again and then one morning, while I was taking notes in my Viral Discovery and Genomics class, I passed out - while seated! I've passed out before, but those episodes were always subsequent to activity. Passing out whilst seated is a whole new skill; I've even been pre-syncopal laying in bed (not to brag or anything). After that scare, I decided it was time to go home and  get well before attempting college again.

So here I am, lying propped up in bed, in my granny compression socks. Trying to ride out this storm and tapping away on the keyboard to pass the time. There will be funny posts, happy posts, woe-is-me posts, LOTS of coffee, some science-y stuff thrown in there for good measure, and plenty of rambling (don't expect coherency all the time from the crazy, hypoxic woman who spends her days stuck inside her parents' home). There will be tips for friends and family of those living with chronic illness and some personal reflections. Maybe I'll even type in Southern dialect occasionally.

I'm not going to be hiding anything in the way of Dysautonomia because quite frankly, I have encountered too many people ignorant to the reality of it. They have been friends, family, so-called medical professionals, teachers and professors, and the general public. It's not pretty and I'm not going to sugarcoat it. However, I will try to make it as easy to understand as possible, and I will use humor. If I was serious and doom-and-gloom all the time, it would just be too much. I cope through humor (and generous amounts of sarcasm).

So there it is. Thanks for stopping by! Y'all come on back now, ya hear?

Sydney