Jessica’s Journey with Hypokalemic Periodic Paralysis


 

By Jessica Acton

I have always heard your teenage years are the hardest. If I had only known how horrific they would soon become for me I would have enjoyed the little moments we all take for granted, just a little more. Like the family gatherings, favorite movies or just times I could run, jump and play like a normal child.  With any disease the shock after diagnosis can be mind boggling, but when it’s a rare disease people have never heard of, it can be difficult to explain and people often accuse you of exaggeration.  There is no need for exaggerating, the symptoms of my disease are horrific enough as it is.

AaADSC_0946AMy rare disease affects less than 3000 people in the US. It abruptly occurs before age 15 and I was right on schedule!  Many trips to the ER with no answers, test after test, a misdiagnosis and then ending up in critical condition before I got a referral to a specialist. After first being diagnosed by a local doctor and then an endocrine doctor in Toledo, Nationwide Children’s Hospital in Columbus, Ohio gave me my third and fourth diagnosis.

It was official, I had a definite, unmistakable diagnosis. I have a rare neuromuscular disease called Hypokalemic Periodic Paralysis. One person in every 100,000 people will have my disease. So support from my friends and family is vital.  People often make the comment that “I look fine” so I must not be sick…but I guess my only question is “What does sick look like?” My condition is caused by a defect in the CNA4A gene. It is congenital, which means it is present from birth.  I have regular bouts of tachycardia with my heart rate nearing or over 200 beats per minute. My legs will shake uncontrollably from weakness as my potassium levels drop.

My potassium has been as low as 2.1 during an attack and it causes nausea and vomiting. I have been placed in Critical Care while in the hospital to get my attack under control.  The ability to use my muscles becomes hindered during and after an attack. It’s a weakness like no other. No amount of rest seems to cure the weakness this disease leaves behind.  My muscles will continue to remain weak for days after an attack has subsided. Heart arrhythmia is possible from the loss of potassium as well as the need for intubation should the diaphragm become paralyzed during an attack. Any muscle in my body can become paralyzed due to the lack of potassium in the blood. Attacks cause severe weakness as well as severe paralysis that usually lasts many hours but can also last for days.  These attacks come out of nowhere with usually no warning other than a headache for me and the symptoms linger like a black shadow in my everyday life waiting to make its attack on my body once again.  It is possible to wake up in the morning completely unable to move or even open your eyes but you can hear everything around you. You’re essentially trapped.

A genetic defect causing my potassium to be “sucked into” my muscles and out of my blood stream quickly, sends my heart racing. The defect in muscle ion channels leaves my muscles stiff, swollen and unable to move. Although not much can be done to prevent further attacks including taking potassium supplements daily  (but I still take them) and there is no cure for my disease at this time, it’s nice to have a diagnosis, a plan and to know that I will not travel this road alone. Karate is a constant in my life. A therapy not only for my aching, weak muscles but my mind. Even when I can’t do what I once could, or train as hard as I should be, I turn to it to lead me through the darkness. It’s the one thing I could not give up.

 

I continue to struggle daily and I recently had another attack which also resulted in injury for the first time. I have woke up unable to move my arm and I have had days when I could no longer wiggle my toes. My right side is becoming weaker and slower and my right arm shakes when I try and use it. You see the more times you have an attack the muscles can be left with eventual permanent weakness that is not reversible. The muscles in my legs, hips and back ache without end but I will not give up. My legs swell and I’m completely and totally exhausted. I have had to limit my activity and learn to pace myself. I am still attending school and plan to keep going and trying to be as normal as I can until I can no longer tolerate it.  This isn’t how I imagined my first days or months of being 15 years old but I will fight like a girl and proudly say “I am a zebra.” I have hope for a bright future and I wear my disease proudly! My mom is a professional photographer so I was able to document my journey as well as create some portraits to help people understand the difficulty this disease has brought to my life. My parents and sisters have been my biggest supporters. I have a great group of friends and classmates who understand and are right there with me as my family and I travel this road I call Jessi’s Journey.

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Global Genes Comments

  1. Bryan Hryszkanich says:

    Hi Jessica,
    Two years ago, the day after Thanksgiving, I woke up in the middle of the night unable to move. After spending almost 3 weeks in the hospital, they finally were able to provide a diagnosis. I had HPP. One of the reasons it took so long to diagnose is the fact that I was 39 at the time. Most people show symptoms by their teens. They said it is almost unheard of for the disease to take so long to present itself. For about 5 years prior to the diagnosis I had been having problems with my legs being sore or hard to move. I found myself being exhausted no matter how much I slept. For the most part I learned to live with it, until the day I woke up paralyzed. For me, the trigger seems to be what I eat. If I eat too many carbs my potassium level drops. Since I have been eating better I haven’t gone completely paralyzed, although I do continue to have the leg soreness and extreme fatigue.
    Its good to see you seem to have a positive attitude about the situation, many people shut down or give up, but it seems you are not letting the disease win. I wish you all the best and hope over time you learn to manage it in a way where it becomes unobtrusive in your life.
    To anyone who may be reading this who is living with the disease, I know because its a rare condition its easy to feel misunderstood or alone, but know there are other people who struggle with it as well. While I have only been diagnosed a few years ago, I have lived with it now for 42 years. If you have any questions you can message me on Facebook. I would be happy to answer any questions anyone may have. I wish you all the best.

    Bryan

  2. Bean Bag Benny (my childhood nickname, guess how I got that.) says:

    God bless you. Like your attitude. Cards have been dealt! Let’s play the only game we got! You card game is starting mine is ending and I won with the same crappy hand you got lol. My mom taught me how to play. I have hyperkpp w/pmc and it didn’t get super vicious or diagnosed ’til I was in my late fifties. I came from time and area with a respect of God, family values and each other. We had very little food, no electronics or medical care. Today, reverse that. We learned to understand and work with our weaknesses. Learned to become tougher in spite of them. One time, at about fourteen, I was laying in bed with total paralysis, whoa is me, my brother stuck a pencil up my nose. My mom came in. I can’t talk, I can’t move and I was mad, I could grunt. My mom saw I was furious, she started to laugh I started to laugh. Then she said something like, at least you don’t have a hare-lip like your buddy Teddie Sullivan. I thought here I am, I can’t get up and I am laughing so hard I am going to wet the bed. I believe we all learn one real lesson in life. That was mine. I was not a victim. Not too long after that, in spite of me being called Bean Bag Benny by my sister, I asked out the most beautiful, smartest girl in the world. Well you know how that went. Still with her fifty years later and she still knows the definition of a beautiful woman. We have dived some of the most beautiful coral reefs, caught king, tuna, snapper, lobster, conch, flown planes (yes, I passed the flight physicals) over some of the most beautiful landscapes, met and partied with the rich and famous (watched some of them flirt with my wife, lol.) Traveled Europe, Central America, boated the Caribbean Islands watched one son play college ball, watched the other overcome a horrific motor cycle accident and become a wonderful husband. Yes, I have periodic paralysis. I admit I compensated, moved to Florida, for the PMC. Started businesses to delegate when I had paralysis those days of weakness, but made a lot of money and a lot of friends. During the last Super Bowl, a friend called my wife and said he was hosting a party for his business associates. My wife told him thanks but I was having a particular tough time and I was likely probably going to be bedridden. That SOB skipped his own party and showed up at my house and brought beer and wings and sat with my family and myself and watched the game. Life is amazing. So now, my body is trapped within the confines of my modest home. I have other homes in beautiful places to which I can no longer journey. I have some of the most beautiful beaches within miles. Wonderful restaurants where the food will remain untasted. The Kingfisher standing on the back of the alligator as it suns itself on the canal bank will never be seen again. It is isn’t bad because I learned a lesson a long time ago, it started with a pencil up my nose.

    Enjoy that card game Jess. It is the only card game we get 😀

  3. Hi Jessica,
    Well here it is, 3am, and I am pulling an all nighter out of fear of an episode I am having getting worse if I go to sleep. Can’t wiggle my toes, barely can walk. The best part? The attack was triggered by running a biathlon race at an olympic team building event at work, wearing flippers, mask/snorkel, a floaty tube, and a nerf gun to shoot at a target before running back! Turns out I pushed it too hard. I didn’t wjn a medal for that race either :(. Then I went and ate a very high carb meal afterwards, and that made it worse. Now I am chugging effervescent potassium, watching Battlestar Galactica while my family sleeps.

    Similar story, I was diagnosed when I was 12. I can empathize, few people can understand the plight, some people thought I was weak of mind. My best friend pushed me in jest in high school on a bad morning, and I fell flat on my face in front of a crowd. At least he learned ;).

    It does get more manageable with age and diet! Best of luck learning how to live with it. Zebras we are, indeed!

  4. Susan P. says:

    Hello Jessica,
    I was just researching HYPP and discovered your article. I first experienced paralysis in the 4th grade during physical fitness testing, but it wasn’t until about 13,14,15 that I started having more regular attacks. I am now 51, but 2 of my 3 kids have it. My mom and my brother also have it. My mom says it gets better with age, but I still get weak, however, I have been able to manage dealing with this disease throughout life- attended college, have a career, family, etc., although it can be very challenging and people don’t really understand it! None of us have ever had muscle shaking or fast heart beating as you have. I took part in a study for Hypo KPP through UCSF, which was really helpful. Right now, I’m trying to help my kids, who are facing challenges with school attendance due to the weakness attacks. Best of luck to you. You are not alone!

  5. Hi. I am really grateful to have found your post. God bless you for sharing your journey. I struggled my entire life with this and was not diagnosed until I was 40 years old. Until then doctors said I lacked coordination. I didn’t learn through genetic testing but through a muscle biopsy.
    Then was told to limit carbs. Still sad in feeling happy that I was finally told not in my head but then left with nothing to do about it. I have been researching and came across this today. Very grateful.

  6. Jessica,
    We are also a PP family. Thank you for sharing what this condition is like for so many of us. We found great support here: HKPP.org. They have been extremely helpful on our journey. Blessing to you!

  7. Hi. It is going to be ok. I had my first attach when I was 1/12 years old. No one know why or what is going on, I was officially diagnosed when I was 14 years old. Now I am 46 years old, and I have a great family and I am a clinical Laboratory Manager with 3 MS and a PhD. Today I got another mild attach and that is why I came across your story. I am at work and functioning as best as I can. But over all it is all good and well. Have faith , depend on your family, you are going to be just fine, actually one of the side effects of this is that it makes your brain think faster and harder to be able to function, i.e. make you smarted or at least that what I was told.

  8. Savannah Martin says:

    Hey Jessica! I also have HPP! I was clinically diagnosed in 2012 after having genetic testing done due to my first attack on August 4th of that year. I, too, was only 15 years when this all started. When everything first started for me I was on and off of the ventilator because doctors naturally didn’t want to believe that I could possibly have something so rare but also because they couldn’t keep my potassium up. I am now 20 years and am in the process of obtaining a service dog for this disorder. I’m also on the only medication that has ever been made specifically for this disorder and is FDA approved, Keveyis.

  9. Person with Genetic Hypokalemic Periodic Paralysis says:

    Jessica, i know how you feel for i too have hypokalemic periodic paralysis. One difference between us that i can point out is that mine started as soon as i was brought into the world. Attacks since childhood for me and my older brother, even my father and uncles had to go through this, and theres nothing we can do about it. Im only 14 as of the moment but due to the disorder i feel weaker than anyone in my age group. I was once in the soccer varsity team of my school, when my condition wasnt so difficult to deal with, but as i got older, it got worse hence i had to quit my team. Attacks came more often and longer lasting. During class, due to the cold of airconditioning (mine is triggered by temperature) i miss on important things to take note of because my hands would not work properly. During physical education, i mostly have to sit down while everyone is doing what they have to and i hate that because i am seriously in love with sports. This will be weird coming from someone younger than you, but please know that you are not alone. We all go through these things and people see us to be weak, but tha fact that we can live on our lives like this, it proves that we are the stronger than most could ever be.

  10. Hello Jessica,
    Please feel free to join our Periodic Paralysis Network Support Group. We have over 500 members who live with Periodic Paralysis. We have much to share and are a very caring and supportive group.

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