Saturday, May 26, 2012

Five misconceptions of the public concerning my condition


Periodic Paralysis is widely misunderstood, especially by those who have never heard of it. I thought I would share a few examples that I run into fairly often. In no particular order:


1. Oh, you have a potassium problem? Just add more potassium to your diet and you'll feel better, right?

My response:

This is not the same disorder as low potassium (Hypokalemia) and it should not be viewed as such. If I could "fix" myself by eating and drinking potassium, don't you think I would do it?

Furthermore, the metabolic disorder Hypokalemia is often secondary to other diseases, so there is rarely an "easy" solution out there. The physiology behind electrolyte transport is somewhat complex, so it's not always as simple as popping a pill or eating a banana.



2. Nice person: I'm sorry your pain is keeping you from doing things.
Not-so-nice person: A lot of people live in pain. Suck it up and work through it.

My response:

Thanks, but my "pain" has nothing to do with my disability. I have lived with constant chronic pain since age 12, but I have lived to the best of my ability in spite of it. Pain is not the disease. It is only one of many symptoms of the disease. I have always worked through the pain whenever possible, but there is a big difference between hurting and being physically incapable of using your muscles. Pain doesn't keep me from moving, defective channels do. There isn't a person on this planet who can "suck it up and work through" muscle failure.



3. Oh yeah, I know all about that. My friend/cousin/uncle/sister/roommate has MS.

My response:

I understand their desire to relate to my life so that I don't feel alone (I do it to others myself, big time), so I don't usually correct someone unless they push the issue. However, this is not Multiple Sclerosis. MS is a progressive nervous system disorder that can result in the loss of motor skills due to nerve dysfunction. Periodic Paralysis is considered a rare form of MD, which is Muscular Dystrophy. Strictly a muscle channel defect, Periodic Paralysis is not caused by the brain, nor does brain damage result. While muscle activity is greatly affected in both conditions, it is for two different reasons from two different sources.



4. [Paraphrased] Since you claim to have neuromuscular disease, you can't possibly be right in the head so you probably don't really know what you're talking about. Here, let me say condescending things to you because you don't know any better.

Many with Periodic Paralysis have been treated this way, including myself.

My response:

"Myopathies have no effect on intelligence." - Muscular Dystrophy Association

I was tested by a Psychologist and found to have an I.Q. of 139 when I was 8 years old. I took the test again at age 21, after my diagnosis, and my score was higher. I left college on the President's List and I'm an alum of Phi Theta Kappa.

My brother is smarter than I am, for the record. In fact, my family is nerd central. It's not relevant in the long run, but worth noting to get the point across that just because someone has a severe physical disability, it does not mean they have a mental disability. I have to admit I'm a bit surprised to meet people who don't realize this.

What I'm terrible at? Motor skills and social skills, both of which leave a lot to be desired. I was late tying my shoes, needed daily assistance in styling my poofy 80's hair, and could not ride a bike to save my life. Still can't. Never will. I'm also a terrible public speaker who doesn't manage being "put on the spot" well. I'm an introvert for the most part who has to put more effort than average into achieving successful face-to-face interaction. Sometimes, I fail miserably.

At any rate, it's comforting to know that if you have Periodic Paralysis, your brain is present and accounted for, albeit, foggy at times due to potassium shifting. Think of it like you would if you had Diabetes. If you've ever experienced a sugar crash, you know that it results in confusion, lightheadedness, sometimes anxiety or aggression...your head feels foggy because glucose, which fuels the brain, is shifting from one place to another in an attempt to balance things out. The effects of HypoKPP on the brain are no different, to my understanding.



5. It's Hypochondria/Psychosomatic Disorder/Conversion Disorder (Otherwise known as: "Your blood tests came back normal? Then there's no reason for you to be acting like this. It's all in your head.")

Warning, snarky response ahead:

With Periodic Paralysis, episodes frequently occur within normal serum potassium levels because even a small shift in potassium through unruly muscle channels can result in incorrect polarization. Episodes certainly occur outside of normal range, but also very well within and that fact is of utmost importance to note. To label someone as a head case because you fail to understand the facts is deplorable. Please stop talking, pick up your big 'ol ego, and shove it. And have a nice day.

If by chance you are a physician diagnosing people as "mental" for the sole reason that you cannot figure out their ailment, I humbly ask that you seek further education as well as be honest with your patient in saying "I don't know" instead. There is no shame in that, and I can tell you first hand that saying "I don't know" is leaps and bounds more respectable than calling someone delusional. I believe that we have only touched the surface of understanding abnormal processes of the body, so it is rather impossible for you to know everything there is to know about a person you've barely met. If you insist on believing that you are all-knowing in spite of this, please be kind and pass the torch to someone who is better qualified to represent the Hippocratic Oath. Thank you.


At your convenience:



In conclusion, please understand that I greatly appreciate all who wish to discuss my condition with the right intentions and an open mind. Do not ever hesitate to come to me with questions. I promise I don't bite. :-)

I am also eternally grateful for the physicians who have listened, cared, and done their job well over the years. Keep up the good work, and God bless.

Sunday, May 6, 2012

About Me

My symptoms began at age 12. I was misdiagnosed and untreated until I was nearly 21 years old. December 1998, I was diagnosed with Periodic Paralysis with the possibility of Renal Tubular Acidosis. Although I do suffer from Nephrolithisis, it was later clinically confirmed that I have Familial (Primary) Hypokalemic Periodic Paralysis. I am a "textbook" case with the exception that my condition has progressed more quickly than average. My MD physician considers me permanently weak in my 30's. I am never well-functioning as I do not fully recover between attacks.

Finding proper medical care has been next to impossible and a terrible experience over the years. I am thankful to finally have the attention of the Muscular Dystrophy Association and a team of physicians 3.5 hours away in Jackson, Mississippi. I am still looking for a local physician that will work with them and me to provide acute care and maintenance. No luck so far.

My mother and her sister have some of the symptoms, but have not pursued a diagnosis and are uninvolved in my care. I do not have children and can't have them. In spite of that, I hope to be able to have genetic testing done someday. As of today, I do not have the resources to do so.

I strive to bring awareness so that future patients don't endure the hardship that I have. The physical and emotional effects of this disease are beyond expression, especially when support is so hard to come by. It should not be this way, and I intend to make Periodic Paralysis not only known, but well understood.

Thank you for being here.

Wednesday, May 2, 2012

The Battle Against Periodic Paralysis by Kelli Bosarge

Imagine yourself hanging out with friends, shopping at the local mall. All of a sudden, for no reason that you are aware of, your legs become so heavy that you can no longer pick them up to take another step. Your friends think you are joking, but you're not.

Or perhaps, picture yourself at a birthday pool party. Surrounded by family excitement, the summer sun, and plenty of junk food, you begin to experience severe dizziness accompanied by debilitating weakness in your entire body. Your family is baffled by your sudden impairment and have no idea why you're being so dramatic or what to do to help.

Last but not least, let's say you are in a well air-conditioned home, washing dishes at the kitchen sink. Within five minutes, your limbs begin to cramp and go numb. You stop what you're doing and barely make it to your bedroom before collapsing into bed. After a power nap spawned by pure exhaustion, you wake up and cannot move your body at all. With no other choice, you lay there until you are able to get up...however long that may be.

These scenarios sound like a fictional medical drama, but they are all too real to someone with the systemic disease Familial Periodic Paralysis. A rare genetic condition, Periodic Paralysis is a complex and widely misunderstood beast. The only way for someone who does not have Periodic Paralysis to grasp the concept is to explain to them the process, symptoms, triggers, treatment, and solutions for care and quality of life.

The Gale Encyclopedia of Neurological Disorders describes the Periodic Paralyses as "several rare, inherited muscle disorders marked by temporary weakness" (656). According to Periodic Paralysis International, these episodes can last anywhere from a few minutes to many days, and repeated periods of weakness can eventually result in loss of overall muscle strength (hkpp.org). It is an autosomal dominant ion channelopathy, which means the condition passes down from parent to child in most cases, however some patients' family history is undetermined (hkpp.org).

There are four primary types of Periodic Paralysis, all with various symptoms, triggers, and treatments. The most common form is Hypokalemic Periodic Paralysis (hkpp.org). Hypokalemic Periodic Paralysis results from an inconsistent shift in potassium from your bloodstream into your muscle cells (hkpp.org). This causes serum potassium levels to drop, and incorrect polarization occurs inside the muscle membrane (hkpp.org). This bizarre imbalance "paralyzes" the affected muscles, which of course prevents you from using them (hkpp.org).

In Hyperkalemic Periodic Paralysis, there is an upward shift of potassium in your bloodstream caused by potassium improperly finding its way out of your muscle cells (hkpp.org). This also creates an imbalanced ratio and results in periods of weakness that are accompanied by prolonged muscle contractions (hkpp.org).

A related form of Periodic Paralysis, Paramyotonia Congenita, is often considered a branch of Hyperkalemic Periodic Paralysis, as it is also defined by sustained muscle tensing, called myotonia, that prevents your muscles from relaxing normally (nih.gov).

These three conditions are very uncommon; however, one form of Periodic Paralysis is so rare, it is nearly unheard of. If you have Andersen-Tawil Syndrome, you are one in a million. Or one in quite a few million, to be more accurate, as "only a few hundred families in the world" have reported the condition (hkpp.org). If you are one of the chosen few with Andersen-Tawil Syndrome, you experience acute attacks of weakness, paralysis, and dangerous heart arrhythmia when potassium levels shift (hkpp.org). It is also likely that you are shorter than average, and were born with unusual skeletal features of the ears, eyes, teeth, spine, fingers, and toes as well (hkpp.org).

What is life like with Periodic Paralysis? What are the most prominent symptoms of this rare disorder? Jon Udall of Birmingham, U.K. was diagnosed with Paramyotonia Congenita after experiencing episodes of muscle weakness and stiffness. Concerning the myotonia, Jon explains "The muscles take longer to de-contract" (Udall). The same is the case if you have Hyperkalemic Periodic Paralysis. If your potassium level rises, even so slightly that it is barely noticeable, you may become stiff, weak, or temporarily paralyzed, according to Genetics Home Reference on the National Institute of Health website (nih.gov). These episodes may involve the entire body or only one part, and usually last no longer than a couple of hours (hkpp.org).

For Susan Knittle-Hunter of Oregon, who suffers from Andersen-Tawil Syndrome, the symptoms are extreme and include heart arrhythmia, Long QT Interval heartbeats, abnormal T waves, Angina and fluctuating heart rates (Knittle-Hunter). Knittle-Hunter also deals with frequent episodes in which she is paralyzed "head to toe" (Knittle-Hunter). This leaves her unable to move, speak, breathe properly, or open her eyes (Knittle-Hunter). She makes it clear, however, that she can still hear and she remains conscious throughout the ordeal (Knittle-Hunter).

Life is no less difficult if you have Hypokalemic Periodic Paralysis, as muscle weakness and paralytic episodes leave you unexpectedly helpless. Genetics Home Reference on the National Institute of Health website states "Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely" (ghr.nlm.nih.gov). Limbs are most often the weakest, but your entire body can be affected (hkpp.org). While not common, there is a chance that you will have trouble breathing and swallowing, which is potentially life-threatening (hkpp.org). You may or may not experience pain during and/or after the onset of an episode, but as per Periodic Paralysis International, you may find yourself in what is called an abortive attack (hkpp.org). This is a period of prolonged weakness that you might consider more debilitating than temporary acute paralysis, since abortive attacks last for weeks or even months at a time (hkpp.org).

As if these frightening symptoms aren't enough to deal with, you are also at risk of becoming weaker as the years go by, and it is quite possible that you will face permanent disability, especially if attacks are strong and frequent (nih.gov). But for some patients, Periodic Paralysis is just that - periodic - and your body may recover between attacks (hkpp.org). This highly unpredictable chaos is undoubtedly a frustrating and exhausting situation for you, and a very confusing one for those around you.

There are quite a few factors to consider concerning the onset of episodic weakness and paralysis. It is clear that potassium is the focus of your condition and that it boils down to it moving into the wrong place at the wrong time, but what triggers these horrendous events? One of the most common causes of a paralytic attack is physical activity (hkpp.org). Due to depolarization caused by incorrect balance of potassium in the muscle membrane, your muscles do not respond properly (hkpp.org). In fact, the more movement that you attempt at times, the less they work (hkpp.org). As one patient describes in her journal, "It's like trying to force two of the same magnets together...they don't come together, they rebel" (ugottafriend.blogspot.com). So if you were to go for a jog, the repetitive muscle movement would possibly result in an episode of weakness, most likely upon halting the movement. This trigger is most often referred to as "rest after exercise" (nih.gov).

Jogging is only one of countless examples, unfortunately, and the exercise doesn't necessarily have to be strenuous to cause a problem. In Muscular Dystrophy Association's Quest Magazine, one patient shares that using a potato peeler causes her hand to paralyze, while another laments that he loses strength when trying to play his guitar (quest.mda.org). It is safe to say, then, that any repetitive muscle activity can be a culprit.

Besides movement, there are many other triggers of Periodic Paralysis, depending on which type you have. In Brain, a journal of Neurology published by Oxford Journals, episodes in those with Andersen-Tawil or Hypokalemic Periodic Paralysis can be brought on by any kind of stress, viruses, the menstrual cycle, sleeplessness, and foods that are high in carbohydrates and sodium (brain.oxfordjournals.org). Certain drugs, such as steroids, insulin, adrenaline, and beta blockers can also produce a Hypokalemic attack (brain.oxfordjournals.org). If you're a Hyperkalemic patient, potassium is the enemy, as is stress, cold, and fatigue (brain.oxfordjournals.org). Jon Udall states that you may experience attacks of Paramyotonia Congenita if your muscles are too cold, or upon "repeated actions such as clenching a fist over and over again or blinking quickly for a while" (Udall). Potassium-rich foods are also a problem for those with Paramyotonia Congenita (hkpp.org).

Such a difficult condition can no doubt make you feel helpless, but there are some treatments and suggestions out there to help you manage your symptoms. Udall has found that wearing warm clothing and exercising carefully but frequently has helped him maintain control of Paramyotonia Congenita (Udall). He suggests not overdoing it and avoiding repetitive movements, but making some form of muscle activity a regular part of your lifestyle due to the fact that symptoms seem to be more severe after prolonged breaks between activity (Udall).

Susan Knittle-Hunter, on the other hand, must handle Andersen-Tawil Syndrome by not exercising, as well as avoiding stress as much as possible, following a proper diet of fresh, unprocessed foods, staying hydrated, getting enough sleep, and keeping a close eye on vital signs and potassium levels (Knittle-Hunter).

Say hello to sweet and salty foods if you are Hyperkalemic, because they are the most efficient way to prevent and recover from attacks according to Periodic Paralysis International (hkpp.org).

If you have Hypokalemic attacks, however, no french fries for you, as you want to avoid salt and heavy carbohydrates like the plague (hkpp.org). It is also wise to limit activity, avoid stress, and keep your muscles at a comfortable temperature (hkpp.org). You will most likely be prescribed high doses of potassium, and your physician may consider diuretics (especially potassium-sparing ones) to help rid the body of excess sodium in an attempt to allow the potassium to better do its job (hkpp.org). Finally, it is worth noting that despite the popular idea that bananas are a cure-all for potassium deficiencies, they are not recommended to patients with Hypokalemic Periodic Paralysis due to their heavy carbohydrate load, and have been reported by some to do more harm than good (fightinghkpp.blogspot.com).

The prognosis of Periodic Paralysis varies tremendously. Paramyotonia Congenita is usually diagnosed early in life, and does not get worse over time (hkpp.org). Andersen-Tawil, Hypokalemic, and Hyperkalemic Periodic Paralysis are a much different story. You may be one of the lucky ones and manage well with few symptoms, or your condition may progress over time until you are completely disabled and in need of day-to-day assistance (hkpp.org). Based on the accounts of members of the Periodic Paralysis Association email support group, many appear to be somewhere in between (periodicparalysis.org). In the most severe cases, serious episodes result in fatality due to respiratory or cardiac arrest (hkpp.org).

Living with an incurable and unpredictable disease such as Periodic Paralysis not only puts your physical well-being in dire straits, it may also weigh heavy on your heart. That is why it is important to reach out to others for support. Physicians at the Periodic Paralysis Association and Periodic Paralysis International have joined forces to bring education and understanding to the public world-wide (periodicparalysis.org). The Muscular Dystrophy Association is also on board, conducting research and offering support to patients through their clinics in various parts of North America (MDA.org).

Unfortunately, the condition is still terribly misunderstood among the medical community, and patients such as Susan Knittle-Hunter are too often not treated properly due to the error of medical personnel. Knittle-Hunter recalls being wronged by doctors many times due to their lack of knowledge about her condition (Knittle-Hunter). She longs for the day when the word is out far and wide, "I would love to see medical professionals be more trained and educated about the Periodic Paralysis diseases. No one should have to have been treated as poorly as I have been and have to have become so disabled due to the misdiagnoses and mistreatment with the wrong medications as I have been" (Knittle-Hunter). Knittle-Hunter's story is not uncommon among those who suffer from Periodic Paralysis. Concerning an emergency room visit involving a debilitating episode, another patient writes in her blog, "I was jabbed repeatedly in the chest, screamed at, mocked, called a fake, accused of drug seeking...I have yet to get over it" (fightinghkpp.blogspot.com).

What can you do when face-to-face with people who fail to understand what is happening? Periodic Paralysis International suggests their printer-friendly articles, research, and treatment information, which should be respected by everyone, including medical care facilities (hkpp.org). It is also vital that family and friends, especially caregivers, are educated to fully understand what is happening to you and what can be done, together, to cope with all circumstances (hkpp.org). Support groups, counseling, and working collectively on striving for quality of life may help both you and your loved ones (hkpp.org).

If you suffer from one of the Familial Periodic Paralyses, you may at times feel painfully alone, but you're not. Understanding how this complex disease works and what can be done to control and cope with it is the key to wellness. By educating yourself and those around you, implementing medical advice to the best of your ability, and seeking support and quality of life with an open mind, the battle against Periodic Paralysis can be a challenging, yet hopeful one.


References:

"Periodic Paralysis" The Gale Encyclopedia of Neurological Disorders. 2nd vol. Michigan: Thomson Gale, 2005. 656. Print.
Venance, S.L. "The primary periodic paralyses: diagnosis, pathogenesis and treatment." Brain. Jan 2006. 129. 8-17. Web. 21 Apr 2012.
Wahl, Margaret. "Periodic Paralysis Brings Frustration, Misunderstanding, But Can Be Managed." Quest. Muscular Dystrophy Association. June 1998. Web. 21 Apr 2012
Wahl, Margaret. "PP: It's All In The Muscles, Not The Head." Quest. Muscular Dystrophy Association. July 2009. Web. 21 Apr 2012
"Hypokalemic Periodic Paralysis" Genetics Home Reference. National Institute of Health. Apr. 2007. Web. 22 Apr. 2012
"Hyperkalemic Periodic Paralysis" Genetics Home Reference. National Institute of Health. Apr. 2007. Web. 22 Apr. 2012
"Paramyotonia Congenita" Genetics Home Reference. National Institute of Health. Apr. 2007. Web. 22 Apr. 2012
"What Is Periodic Paralysis?" Periodic Paralysis International. Periodic Paralysis International. 21 June 2011. Web. 22 Apr. 2012
"Andersen-Tawil Syndrome FAQ." Periodic Paralysis International. Periodic Paralysis International. 25 June 2011. Web. 22 Apr. 2012
"Hyperkalemic Periodic Paralysis FAQ." Periodic Paralysis International. Periodic Paralysis International. 25 June 2011. Web. 22 Apr. 2012
"Hypokalemic Periodic Paralysis FAQ." Periodic Paralysis International. Periodic Paralysis International. 21 June 2011. Web. 22 Apr. 2012
"Paramyotonia Congenita FAQ." Periodic Paralysis International. Periodic Paralysis International. 25 June 2011. Web. 22 Apr. 2012
"The Abortive Attack - Weakness Between Attacks." Periodic Paralysis International. Periodic Paralysis International. 27 June 2011. Web. 22 Apr. 2012
"Some Words For The Family." Periodic Paralysis International. Periodic Paralysis International. 6 July 2011. Web. 22 Apr. 2012
Periodic Paralysis Association. Periodic Paralysis Association. 26 Feb. 2010. Web. 22 Apr. 2012
"Life With Periodic Paralysis." My Roller Coaster Life. n.p. 20 Nov. 2009. Web. 22 Apr. 2012
"One Year Ago." The Fight Against Hypokalemic Periodic Paralysis. n.p. 10 Apr. 2012 Web. 22 Apr. 2012
"No, Dear, I Will Not Eat More Bananas." The Fight Against Hypokalemic Periodic Paralysis. n.p. 10 Apr. 2012 Web. 22 Apr. 2012
Udall, Jon. Personal Interview. 14 Apr 2012
Knittle-Hunter, Susan Q. Personal Interview. 16 Apr 2012

Rough Tuesday

I had tests and another consult with Nephrology/Internal Medicine today. I became suddenly ill and almost passed out in the car on the way up to Jackson. I haven't been able to walk without human assistance since. My right side is aching so I guess it's a kidney stone. Dr. F didn't flinch when I told him about it, probably because I've passed so many.

Concerning my current condition, which has been going on for over a year now, he concluded the same as the MDA clinic, with nothing else significant noted in labs except chronic Nephrolithisis that I'm already taking potassium for. He doubled the Inspra in an attempt to raise my K+ level, but that's all he wants to do for now. I don't see him again until November.

Severe, permanent weakness in my early 30's? I truly hope not. Maybe the increase in Inspra will help in some way. Dr. F is nice and I'm just grateful that he hasn't given up on me like the rest.