Tuesday, December 11, 2012

Why



I am utterly devastated to learn that my sweet friend Alexander has passed away.

He had Periodic Paralysis, and we had many conversations via Facebook private message concerning our condition. He picked on me about my blog rants, and translated my blog and Yahoo article for his friends and family in Ukraine. I even gave him some input on his little girl's English homework one day, and I was honored to do so. Most of the time we would just check in and ask about how each other's week was going, health-wise. We understood each other perfectly, in spite of our slight language barrier.

Like most of us with Periodic Paralysis, he had been through the wringer where medical care was concerned, being mistreated over the years and not taken seriously. Even with a family history of close relatives dying prematurely, he had so much trouble finding a doctor who would listen and treat him properly. He told me that doctors kept telling him it was all in his head, because they had no knowledge of the condition.

Story of my life. I related to Alexander so well...his story and mine were almost parallel.

Many of us in the online support groups did our best to encourage him through the battle. I've been told that he died in the hospital after an episode that affected his breathing. My heart is crushed for him and his family. Alexander was only 31 years old, married with two young children. I will never understand. Why him? He was a devoted husband and father who had so much to live for. He started a mission to educate people in his region about this disease, even finding others with Periodic Paralysis and trying to help them seek treatment in the midst of his own challenges.

I simply cannot wrap my brain around this loss. Why him? Why not me?

It makes no sense whatsoever. It is unfair.  It makes me angry.

I will never understand. I will never stop asking why.

Thursday, December 6, 2012

Choosing Battles

This is pretty much how things are going lately.

My body doesn't seem to know which way is up anymore. Even my uncle, whom I share a house with but never speaks of my condition, finally chimed in and said "You're not functioning."

No kidding. Thanks for letting me know.

I manage to get a little bit done most days, but it usually involves something small. As most with systemic disease know all too well, I have to choose my battles. I can wash my hair, or I can load the dishwasher. I can prepare a semi-homemade meal, or I can struggle through a load of laundry. I don't take these things for granted whatsoever. Not a one. I find myself taking note of every little finished task on my to-do list and calling it a win. I can't help but be sad at times, though, that I consider taking a shower and putting on clothes an accomplishment. Who does that? Apparently, I do. Perhaps I'm not the only one.

I'd be lying like a dog (pun absolutely intended) if I said my treatment was going terribly well. It's not. My body is frustrated and it's making that known every minute of every day. I'm in horrendous pain from head to toe with no relief. I still have not successfully titrated the acetazolamide to the amount that my doc wants me on. I pray to God for mercy that I don't start passing stones again, and I can't get in any position and be comfortable enough to rest. I literally do not sleep until my body crashes, whenever that may be. It's usually sometime in the morning or afternoon for three or four hours, and I'm usually in the middle of something. I can be in mid-sentence typing on my laptop in bed, and suddenly I wake up later with my hand still in position on the keyboard, partially paralyzed. I wonder sometimes how long I can continue existing like this. I'm trying so hard to function, but I am exhausted in every possible way.

I do what I can to distract myself. I'm working on an inspirational eBook, small craft projects when my arms and hands allow it, and spend a lot of time on Twitter and Facebook. I am grateful to those who put up with my ranting, raving, and rambling on social media. It keeps me sane.

I'm supposed to be heading to Louisiana today for a relative's wedding, but I am physically and financially unable to make the trip. I'm pretty upset about it. No matter how long I've lived with this disease, I can't get used to the fact that I don't have the same privileges as the rest of my family and friends. They can go and do what they want or need. I struggle with not being granted such normalcy.

I refuse to give up on having a life again, and I count my blessings in spite of this prison.

Monday, November 19, 2012



If you talk to me online, there is a fairly good chance that I'm in this position. This has been a daily occurrence for about a year and a half now. I thankfully have a laptop that sits beside me in bed 24/7. When I'm too weak to sit up but cannot sleep, I lay on my left side (less strain on the heart) and read/blog/tweet/facebook with a couple of fingers. I'm in the dark in this particular photo because lights are sometimes unbearable. Today was definitely one of those days.

From The Archive: "Welcome To The Freak Show"


I thought I would share a blog entry from my archive (on another journal). I imagine everyone with HKPP and other systemic diseases can relate well to not only the obvious battle, but the battle within. Thanks for reading, and comments are always welcome.

----------
From physical and mental to financial and time-wise, this is a challenge in every way. I feel like a juggling Guinea pig in a circus freak show (where you at, Ripley's?) who returns to her cage when the act is done. And this juggling Guinea pig has over a dozen acts a day, because the Ringmaster thinks she's qualified to handle the workload.

I am not qualified today. Or this week. Or this month. In fact, I'm not sure I'll ever be qualified for this.

Five years ago, I was an executive office administrator in the corporate world, working two jobs seven days a week and still managed to take online college classes and do charity work on the side. I took one pill a day and one shot every 11 weeks. Although I was still recovering from a severely separated knee caused by an incident with post-Katrina debris, I appeared to be in a reprieve from the Periodic Paralysis. I didn't take it for granted. I seized every day as if it were my last. I did the best that I could.

The Periodic Paralysis reared its ugly head again, and I found myself flat on my back at the end of 2007. I had to resign from all jobs, and I was back to the drawing board. Weaker, but determined.

I didn't give up. I redefined my life. I threw caution to the wind and ran off to Florida, where I trained and certified to teach Bob Ross painting workshops. It was the craziest, riskiest, most spontaneous thing I've ever done. It was also the most incredible, amazing experience of my life. I returned to the Gulf Coast and began teaching for very little income, but I was happier than I had been in a long time. Summer of 2008 brought forth another spontaneous decision - going back to college full time. I dove in head first. Two weeks in, I landed in the hospital and had to have two kidney stone operations, missing almost a third of the semester. One of my teachers told me that I was an academic goner and suggested I withdraw.

But I didn't give up. I worked night and day to catch up, and I walked out of there on the Dean's List.

I continued teaching, going to college, and helped launch a wonderful non-profit called Art With Heart. My vision of getting my Fine Arts degree, bringing Art Therapy to the Gulf Coast, and eventually qualifying for foster parenting was finally becoming possible. Then my body began to weaken again, and I saw the inevitable. I went to doctor after doctor, and warned loved ones about what was happening. Nobody took me seriously, even after I had to drop my Art courses because I was too weak to handle them.

But I didn't give up. I was devastated, but I dropped my Fine Arts major and continued college strictly online. I surprised myself by choosing Psychology, and kicked some unexpected, unprecedented butt. Perfect score. I found my academic niche, and ran with it. The new goal: Troy University's Psychology/Social Studies Post-Secondary Education Masters, with Bob Ross instruction and art therapy in the plans as volunteer work on the side. I had a real goal again, and was so excited.

April 9th, 2011, my world came crashing down when my body went into a full paralytic episode following a painting workshop. I was mistreated by the hospital staff, resulting in multiple episodes and a drastic nosedive in my condition. I never fully recovered, my doctors have declared me permanently weak, and life has been a roller coaster from hell ever since.

At the horror of those around me, I refused to give up on college. I continued online, propped up on pillows in bed. I couldn't complete some of the assignments on time due to episodes and hospital visits, but my instructors made accommodations to extend deadlines, and I finished strong. When I was forced against my will to drop out of college this year, I left with a 4.0.

And now, my life is this. One pill a day has become an overwhelming list of crap that I have to write down to remember and borrow money from relatives and charities to pay for. Some days are better than others, but overall quality and all future plans are out the window. Some days, I can't swallow well enough to take all the meds. Some days, the side effects are worse than the symptoms. Some days, I take the meds and they flat out don't work. Some days, it would just be easier to give up, because I am absolutely not qualified for this.

But then I am reminded of everything that I once strove for. I am reminded of all of the people, young and old, that I have mentored and counseled to never stop hoping and never stop trying. I am reminded that I don't deserve to talk the talk if I'm not willing to walk the walk. I am reminded of who God is. I am reminded of who I am. I may not have much or be much, but one thing I know for sure - I don't give up.

I may not be qualified for this act, but with everything in me, I'm gonna keep juggling.

Update...From A Big Chicken

The Big Chicken!!! Located in Marietta, GA

Why, you ask? I thought it was appropriate, because I am one. After the nightmarish side effects that nearly landed me in the ER overnight last Tuesday/Wednesday, the doc and I agreed to cut my dosage of acetazolamide in half. Except I was too big of a chicken to do that, so I cut it in quarters instead. I went from 500mg a day to 125mg a day, and now I am going to slowly work my way back up to 500 if my body adjusts to the side effects. I have a nagging headache and I'm still dizzy, but not as bad as I was the other night by any means. I am trying my best to put on my big girl panties and deal with it.

I am encouraged that my muscles have not gotten worse. I feel it's a possibility that I am finally on the right track with treatment. I do have to make sure I stay on top of my med schedule...especially the potassium...but as long as I do that, I usually have several hours a day where I can function with the assistance of crutches or a walker. I still crash every day over something...usually muscle activity, weather, or sleep/lack of sleep, but I have to give the acetazolamide time to do its thing. Hurry up and wait is the name of the game, as it so often is.

I thought this might be a good time to list all of the meds and supplements I am on. Each one will be hyperlinked with more information.

acetaolamide (DIAMOX) - titrating from 125mg to 500mg a day, if I can manage the side effects
potassium bicarb/citrate (EFFER-K) 25mEq PRN - up to 3 a day
B12 5000mcg - the Wiki article says B-12 supplements aren't necessary for those who experience low bioavailability due to potassium intake. This article is why I disagree. I think all who take high doses of potassium should seriously consider a reliable B-12 supplement.
Omega Oil 1300mg
Vitamin D 50,000 IU (weekly)

I'm so tired of pills. Words cannot express. Gotta do what I gotta do, right? Quality of life is the goal...always has been and always will be. Keeping my eye on the prize.

Wednesday, November 14, 2012

Acetazolamide: Rough Start

I started on acetazolamide, as I mentioned a couple days ago, and the last 36 hour span has been a bit of a nightmare. My muscles have not declined...I want to make that clear. In fact, I've had moments where I felt for a minute that they were a tiny bit less heavy than usual, which is encouraging.

However, the side effects from the drug have been nothing short of brutal. I felt like I had been stabbed in the head...it was one of the worst migraines I've ever had. The nausea and dizziness were equally troublesome. I pulled a muscle in my back grabbing hold of the kitchen counter to keep from falling. I almost never cry over my symptoms, but tears were shed and I nearly had to ask to go to the ER overnight.

In talking with quite a few patients about it, everyone told me the exact same thing: my body was being ransacked by this drug...that I was starting on too high of a dosage. They said I should have started on a smaller dose and slowly worked my way up to the intended dosage over a period of weeks. They suggested I call my doctor, so I spoke with his nurse this morning and told her what was happening. I received a call back from Dr. Fulop, and he agreed that I should cut the dosage in half and slowly work my way back up. I think he is a bit frustrated with me, or with the situation, but he seemed encouraged that my muscles were not doing worse in spite of the horrible side effects. I'm so grateful to Dr. Fulop for not giving up on me. He is truly one of the best doctors I've ever had.

So in summary:

Acetazolamide 250mg twice a day made me feel like I was dying, bringing me to the conclusion that 500mg a day is not a good dosage to start with. Doc agreed that I should break the pills in half and take 125mg twice a day for 2 or 3 weeks. I'm supposed to call him with an update, then we will decide whether or not to up it to 500mg again.

I'm still on all of my other medications in addition to this. I will post a separate blog entry with the entire list, and comments will be open here if anyone has a question.

I'm off to start the new dosage. Wish me luck...

Tuesday, November 13, 2012

Starting Acetazolamide


My bedside emergency station:
a couple of types of potassium, coconut water, almonds, pistachios, and lots of water

I'm beginning Diamox for the first time. It's very risky, as those with HKPP are aware, with only 46-50% of patients reporting improvement. Half the patients I've spoken to personally have said they are doing much better on it. The other half said they saw a decline in the form of Hypokalemic episodes or acidosis with kidney stones. God knows I don't need any of the above (I believe 40 stones is enough in one lifetime, thank you), so here's hoping and praying that I turn out to be one of the lucky ones. I'll keep you posted.

Wednesday, November 7, 2012

November Consult in Jackson

I went to see my Nephrologist/Internal Medicine specialist yesterday at University of Mississippi Medical Center in Jackson. Dr. F is a gem, I consider myself very lucky to have him in my corner.

He admits to being baffled by my condition, but we had a laugh about it and it made me grateful that he hasn't given up on me in spite of not seeing the improvement we had hoped for. It's funny how I always go in there wanting to crawl into a corner and cry, but I leave feeling better even though things haven't improved. He told me he believes in his heart that I will be well again, and I appreciate that. I've been very down about my condition, to say the least, and it helps to know that one of my doctors has faith in my recovery.

I will be starting a trial of Diamox in addition to all the other meds I'm on. This drug works for some patients, but makes things worse for others. Worse is dangerous, but of course I won't know which category I fall into unless I try it. People with HKPP have no choice but to be Guinea pigs, because the treatment and symptoms vary so much.

Wish me luck, and I'll keep you posted.

Wednesday, October 24, 2012

New Article: The Impact of Permanent Muscle Weakness


http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476862/

Here is a fantastic new study that went on within the support group I am a member of. I was too young to participate, but it is worth reading if you have Periodic Paralysis, no matter what age you are.

My only major concern with the information I read here is the usual...that serum potassium levels are not always "abnormal" 
when experiencing an episode. My episodes and those of many with HKPP occur well within normal range. During most of my recent hospital stay in telemetry, my potassium was in the 4s but I was severely weak and could not swallow for three days due to a paralytic episode. The abnormal shift of potassium through the muscle membrane can be minimal and still do tremendous and potentially life-threatening harm. This confusion is why I was ignored and untreated/undertreated for so many years, and quite possibly why I am myopathic at a young age.

I would like to get some input from those who reported that irbesartan helps HyperKPP. I have HypoKPP and I've been on it for nearly nine years now. At one point, my doctor switched me to a different medication, and my condition declined significantly. I got back on it as soon as I figured out that it was a factor. I find it very strange that irbesartan potassium would help someone with HyperKPP. Would it then hurt someone with HypoKPP? I can't wrap my brain around that, so I would love to find more information.

Thanks always to Dr. Lehmann-Horn and his entire team for the continuous work they put into Periodic Paralysis research.

Saturday, October 20, 2012

Social Security Update: Approved


This is cross-posted from my personal blog. I was going to edit it so it didn't sound so despairing, but it is what it is and I really have nothing to lose in sharing how I feel about it. I'm angry and it shows in this entry. Fair warning. My disclaimer, however, is that this is only my story...it is not intended to discourage HKPP patients from applying for assistance. Everybody's abilities and circumstances vary, as I'm sure you are already aware.

My recent visit to the Social Security office was successful. With detailed documentation, and my visibly obvious condition, I was declared disabled effective immediately. Once SSA got back on track and processed my application properly, it was an open and shut case just as one of my doctors said it would be. I have Medicaid now and will give a review here once I use it.

That's the good news.

The bad news...very bad news...is that they have only awarded me $65 a month. They calculated this based on my current living arrangements (rent free, because hello...I'm broke). Forced to quit all of my jobs and drop out of college thanks to a debilitating disease that I was born with, and I get a whopping sixty-five bucks a month to live on.

I don't even know what to say to that. Doomed? That's a pretty accurate word. Once my aunt and uncle step out of the picture as caregivers, I assume based on the lack of consideration I have received since this began over 20 years ago that I will have no other relatives to turn to.

So what's next? Only God knows. All I know is that I didn't ask for this BS. Never have and never will. I have fought people tooth and nail to be believed in order to receive the medical help I needed to keep this disease at bay for as long as possible. Yet, here I am not even 35 years old at what feels like the near-end of the rope. I have battled my own body since childhood with one goal in mind - to be completely independent. I despise with every fiber of my being a life of relying on others to meet my needs, and at the present time there is no hope in sight of that ever changing. I will never accept it.

That is all I have to say right now. Again, I am simply sharing my personal journey and it is not meant to be a doomsday speech to anyone with this condition.

I will be back to explain, in detail, my social security application process in hopes that it will help others to get the assistance they are seeking in a timely manner.

Wednesday, October 10, 2012

What Are Channelopathies?


Familial Hypokalemic Periodic Paralysis is classified as a channelopathy.

Courtesy of WiseGeek.com:
"Channelopathies are diseases of the ion channels, structures allowing for the passage of ions across the membranes of individual cells. These conditions can also involve the regulatory proteins responsible for moderating the behavior of ion channels. In both cases, the channels do not function properly, causing disease in the patient. The nature of the disease can vary considerably with hundreds of different kinds of ion channels in the body, and treatment options are dependent on the channels involved and how the channelopathy manifests.
There are two types of channelopathies: congenital and acquired. Congenital conditions are genetic in nature and can be inherited or the result of spontaneous mutations. Acquired conditions, most commonly associated with autoimmune disease, occur later in life when the body begins attacking its own ion channels, incorrectly identifying them as foreign proteins. Channelopathies can cause both neurological and muscular disorders depending on the nature of the disease and the channels involved.
Migraines, some forms of epilepsy, cystic fibrosis, and myasthenia gravis, among many other conditions, can be associated with channelopathies. Typically, the patient experiences attacks in the form of paroxysms leading to temporary paralysis or other impairments. These attacks can grow more severe over time as the ion channels experience increasing levels of damage and become more dysfunctional. Patients may need mobility aids and other forms of support, along with medications to manage some symptoms.
Study into channelopathies is a complex and rich field of research in the sciences, especially since many animals develop similar conditions across species. Researchers are interested in identifying the origins and potential treatments of known channelopathies with the goal of assisting people who have these conditions. It is usually not possible to effect a cure, but patients may be able to manage the disease and its symptoms with medical support, and this can make it easier to live with a channelopathy, extending a patient's lifespan and keeping people more comfortable.
In families with a history of channelopathy, it can be advisable to discuss the situation with a genetic counselor before having children. The counselor can provide information about the likelihood of passing the conditions on to children and can also provide information about management of channelopathies to help people prepare in the event that they have children with diseases involving the ion channels. Genetic counseling can also be an opportunity to discuss other concerns with family history, such as histories of cancer and certain kinds of mental illness."

No references given on the site, but the information seems to be valid. I copied and pasted here so you didn't have to deal with the excessive ads and lame generic clipart. You're welcome. :-)



Wednesday, October 3, 2012

HKPP FAQ

This is not a real update. I just wanted to share the link to HKPP.org's FAQ.

http://hkpp.org/patients/hypokpp-FAQ

That site has been a life-saver, literally. I am forever grateful to PPI and PPA for the work they have done and continue to do to bring correct information about this disease to the general public.

I have it bookmarked on my desktop, so that when someone asks what I have, I am ready to share. Sad to say, some people are more likely to consider a random website they've never heard of than the person they're questioning. I think most of us have been there, haven't we? I know I have.

Feel free to print and share my article as well, if you feel that it may be helpful.

It's a shame that we find ourselves in defense mode so often. The information is out there now. There is really no excuse for ignorant mistreatment anymore. We're not the lazy ones...the skeptics who ignore the facts are. I intend to make that truth known until my last breath.

This snarky post has been brought to you by Kelli.

Saturday, September 22, 2012

Social Security Appointment

I finally met with Social Security in person today. I was rather pitiful, although that was probably a good thing in this case.

I was on the roller walker and would not have made it without it. Almost needed assistance getting out of the chair, and couldn't handle the lights...had to put on my sunglasses in the middle of the interview. My mother and uncle stepped up on my behalf via telephone as well.

So, fingers crossed. I will share more about the process as it happens.

In other news, no more YouTube video blogs for me. Too many creeps on the internet. The last straw was a series of messages from a man who made sexual remarks about my paralysis. Anyone who knows me knows how bad of an idea that is. I don't think it's funny or harmless. I think it is extremely violating, and I hope that person is not really the sicko that he genuinely appeared to be.

It's a messed up world out there. Be safe, everyone.

Monday, September 17, 2012

HKPP/MD Appointment



A couple weeks ago, I went back to University of Mississippi Medical Center in Jackson to meet with the Muscular Dystrophy team. It was a long day, as we didn't travel up there the night before like we usually do. We decided to leave before dawn the day of. I arrived at appointment time, but it was noon before I saw a doctor. Pretty common, really, as it is always packed. Being the only MDA clinic in the state, it's a wonder the crowd isn't larger.

While I was waiting, the MDA advocates came in the room and introduced themselves. The turnover is apparently fairly high, and this is the third set of reps I've met since first going there not even a year and a half ago. They were super, super nice and responded to my questions and concerns as best as they could in the amount of time we had. I had no voice (still don't), which made the day more challenging, but I managed a whisper that most folks could understand.

Dr. W came in and we discussed my recent hospital event. She documented everything I told her, and while she had no solution to my esophageal/vocal cord episodes, she did decide to increase my potassium intake yet again to see if I improved any. She also let me know that my Vitamin D was low, and prescribed 50,000 units a week. It's aggravating that I wasn't told about this six months ago. They waited until my bi-annual evaluation to say "oh by the way" instead of calling me in March with a script. Six months! Incredible drop of the ball there, but I didn't fuss at anybody.

That's pretty much it. No further tests or ideas for improvement, just documentation and experimentation with the meds. They consider this a permanent situation, as I've said before, and this appointment only further confirmed it.

Next trip to Jackson is in November, when I will meet with Dr. F, the Nephrologist/Internal Medicine specialist, for new labs and a consultation.

In other news, I was given a wonderful gift recently...a rolling walker. I am obviously not happy that I need such a thing in my 30's, but it has made life easier and for that I am grateful.


Her name is Indy. Because she's indigo. It's also a play on the Indy 500, because I'm a dork who often finds myself singing "Go Speed Racer" in an attempt to make light of the situation.

Whatever keeps the 'ol sanity intact, people.

Friday, July 13, 2012

Chronic pain and sodium channels

I found this article to be worth sharing. I know many of us with Periodic Paralysis deal with pain 24/7, while it doesn't seem to be an issue for others. I can't help but wonder if all of us with PP who have severe, chronic pain happen to have the SCN4A or other sodium channel mutation.

As I've said in the past, I don't know what mine is yet, but I hope to be one of the lucky ones to find out someday. I feel it's relevant to note that I have monitored my sodium intake over the past few years (I didn't know sodium was an issue before 2009), and I found that not only does sodium cause me to become weaker due to potassium shifting, but it also greatly increases my chronic pain level. I think it is also important to mention that sodium (glucose as well) causes potassium to shift even in someone who does not have Periodic Paralysis. For that reason, it has crossed my mind many times that chronic pain and chronic fatigue syndromes could be related to sodium.

I will share more at a later date, but wanted to go ahead and give you this article today.

http://www.molecularpain.com/content/4/1/37


Talk to you soon. I think I responded to everyone who emailed me over the past few weeks. If I didn't, please feel free to shoot me another email and fuss. I'll get right on a reply.

Thanks,
Kelli

Thursday, July 12, 2012

FDA Safety and Innovation Act Passes In Washington

My email inbox has positively exploded with press releases about the FDA Safety and Innovation Act, which was signed by the President on July 10th. This law is vital to people like me who have rare, life-threatening conditions that are unusually difficult to treat. There are no words for how disheartening it is to know what you need to sustain your life and have it denied to you because it's not formulary, conventional, or convenient. I appreciate all who brought this Act to pass, because it may give me and others a better chance of survival.

---

FOR IMMEDIATE RELEASE - Obama Signs FDA User Fee Legislation Bringing Hope to Rare Disease Patients

EveryLife Foundation for Rare Diseases Applauds Congress for Including Provision to Empower the FDA to Accelerate Approval of Lifesaving Treatments

July 10, 2012, Washington, DC – Yesterday President Obama signed into law The Food and Drug Administration Safety and Innovation Act (FDASIA), S. 3187, bipartisan legislation that will spur the development of lifesaving treatments for 30 million Americans suffering from rare diseases.

“We are thrilled the language to improve access to the FDA’s Accelerated Approval pathway for rare diseases has been included in FDASIA,” said Emil Kakkis, MD, President, EveryLife Foundation for Rare Diseases. “We wish to thank Representatives Cliff Stearns (R-FL) and Ed Towns (D-NY) for being champions for the rare disease community.”

Stearns and Towns first introduced Unlocking Lifesaving Treatments for Rare Diseases Act (ULTRA) to empower FDA to use all the science available for allowing surrogate endpoints in clinical trials for rare diseases to determine whether a drug is working, significantly decreasing the development time and cost. Stearns and Towns later introduced Faster Access to Specialized Treatments (FAST) Act that improved Accelerated Approval for life-threatening diseases while maintaining high safety and efficacy standards.

FDA’s Accelerated Approval has been successful in getting treatments approved for cancer and AIDS patients, but has been essentially unavailable for rare disease treatments. There are currently fewer than 400 FDA-approved treatments for nearly 7000 rare diseases. Investment and interest in development will surge for rare diseases if there is access to the Accelerated Approval pathway.

“We would not have been successful if it were not for the great work of Energy and Commerce Chairman Fred Upton (R-MI), Biotechnology Industry Organization (BIO), and more than 300 patient organizations that advocated for improving the FDA’s regulatory process,” added Kakkis.

FDASIA is the culmination of more than a year of negotiations between industry and FDA and includes the reauthorization of the drug and device user fees.

The Foundation will host its fourth Rare Disease Workshop on “Developing Guidance and Policy Recommendations for Accelerated Approval in Rare Diseases” on November 15th in Washington, D.C. FDA, NIH, industry and academic scientists are invited to participate.

The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. We can do more with the science we already have and bring life saving treatments to millions of people suffering from rare diseases.

------------------------------------
Contact: Julia Jenkins, Director of Public & Government Relations Email: jjenkins@EveryLifeFoundation.org Phone: 415-884-0223
www.EveryLifeFoundation.org

Tuesday, July 10, 2012

The Recent Hospital Stay

I'm finally getting around to talking about my recent experience in the hospital. This is going to be extremely long-winded, but I want to make everything known in case it is helpful to others with HKPP.

I woke up at midnight, choking badly. I was having an episode and my esophagus was affected. I managed to cough. Acid came up and went back down. I was unable to swallow, however, and I feel like it went down the wrong track. I gagged and coughed for a long time. I could not gasp for air, but only take small, shallow breaths. I sat up all night, hoping to improve, but I didn't. I could not swallow, take deep breaths, or speak.

If you've been following for the past year elsewhere, you know I have begun having serious episodes that involve my esophagus, and vocal cord paralysis is common for me now. But this time, things were not getting better and I had never been unable to swallow for such a long period of time. I emailed my aunt and uncle to let them know that I would probably have to go to the ER. It turns out their power was out, and they didn't get the email. I would have called, but I had no voice at all...couldn't even whisper. Sent a text message to my brother, and he called them for me.

In the meantime, I got dressed and printed out information from HKPP.org. I also printed out my personal medical information. Around 8am, my uncle took me to Providence Hospital ER. On the way there, I wrote out flash cards and notes for the staff. I had a ton of info...everything I could possibly think of.

When I arrived, the staff tried to force me to speak and wouldn't accept notes. I mouthed to them what was happening, and of course they had no clue what I was saying. So I sat in the ER and waited until it was my turn, still unable to speak, swallow, take full breaths, or walk. I'm not sure how long I waited before being seen...I decided not to be OCD in timing them. :)

The doc was nice, and he read my lips well. Thankfully, he took me seriously and ordered blood work and an X-ray to check my lungs. The X-ray didn't go well because I couldn't take a deep breath and hold it. We tried twice. The portion of my lungs that the tech could make out was clear, so the doc moved on to other tests and (I discovered later) began orders to admit me to the Intensive Care Unit for Hypokalemic crisis and potential Pulmonary Embolism (DVT).

While waiting for stat labs, I was given IV potassium in 1/2 saline. I told them that saline was dangerous and must be avoided, but if Mannitol was not available, diluted saline could be used as a last resort. So, that's what they did.



I warned the doc that my potassium level would be in normal range. I cannot stress this enough, friends, that someone with Familial Hypokalemic Periodic Paralysis has episodes in very normal range. The episodes are not caused by true Hypokalemia, but the actual downward shift...no matter how big or small. I made sure to explain this (the best way someone without a voice could) to the doc. He said "you know more about this than I do, so you tell me what to do". Can I keep him?

In spite of this understanding, the ICU rejected the doc's orders for admission due to the fact that my potassium level was in normal range. So, he ordered the next best thing - Telemetry.

I was admitted to the Telemetry floor, where I was placed in a very defective DVT-prevention bed (more on that later) and hooked up to a bunch of monitors, including a remote controlled monitor that I had to wear on my chest. I was almost immediately given a Lovenox injection in my stomach. They were not taking any chances of me dying of a blood clot, that's for sure. That shot might as well have been an ice pick. Heaven knows I have had a hundred+ needles in my life, so if I say it hurt, believe me...that freakin' thing HURT.

The problem, as those of you with HKPP will already guess, was the potassium. I received another IV that evening and into the night. They got it wrong at first, and were giving me normal saline. I had to ask tell them to switch to 1/2 saline or Mannitol...good thing I double-checked. They changed it out, but unfortunately, that did not help. Would you believe after two potassium IVs, my level did not raise at all? It did not raise...AT...ALL. Everyone, including me, was floored. They nixed all fluids until they could decide what to do.

One thing that slowly began to improve was my voice. I managed to start whispering again on day two.  I was still not able to take a deep breath, but I wasn't in visible distress and remained calm. They checked my oxygen, blood pressure, and heart rate periodically, and the numbers were acceptable.

I tried throughout the day to swallow, to no avail. The doc called in a gastro specialist, who ordered a swallow test. Unfortunately, it wasn't scheduled until the next day, so I was stuck in a defective hospital  bed that continuously (incorrectly) inflated and deflated. I kid you not, it would deflate, then immediately inflate, then deflate again, then inflate again. It never stopped doing this. NEVER. I had also developed a migraine but was given no fluids, food, potassium...for 24 hours. Bad idea. Calm, perseverant Kelli became dehydrated, agitated Kelli. I sent a text to my aunt that I was going to hurt somebody. She sent my uncle up there. In the meantime, a sweet student nurse came in, saw me upset, sitting up in a chair, and asked what was wrong. I unloaded as much as a weak, whispering peacemaker from the deep south could. I told her I had been ignored for 24 hours and I was FED UP. No fluids, no potassium, no food, broken bed, nobody was listening and I was LEAVING. She was like oh no, don't leave. Please don't leave. I told her that if they did not take the information that I brought and follow HKPP protocol, I was going to start making phone calls. She said she would talk to the doctor ASAP and try to find out what was going on. I told her there was a serious failure to communicate and I was mad. She remained kind and calm, helped me shower and dress, and tucked me back into that [insert-swear-word-of-your-choice-here] bed. I still hate that stupid freaking bed. For the love of God almighty, I would have thrown that thing out of my 10th story window if I could have.

Day three was underway. The docs were discussing intubation, which was unfathomable to me (and against my Advance Directive, actually...more on that later). I was still being treated for DVT via Lovenox in the stomach. I may have been dying of Hypokalemic Periodic Paralysis right under their noses, but gosh darn it, my blood flow was stellar. :)

I was so over it, and wanted out of there. I asked for water so I could try to swallow again. I managed to get down the tiniest sips imaginable. I still couldn't produce a good swallow, but it was enough to allow trickles of water to go down the right pipe. Coughs and gagging galore, but it was finally happening at a snail's pace. I had the swallow test that evening. By then, I could swallow small-sized sips with accompanying coughs. Although labored and involved a bit of drama, I passed the test. So on the evening of day three, I started drinking a little bit of water, juice, and chicken broth. I was also able to speak with a loud whisper by then, but was still in pretty rough shape otherwise.

My potassium fell (still in normal range) and I began seeing a decline again by the time the staff changed shifts. I was on the edge of full-body paralysis, and getting very concerned because the pharmacy was still refusing to give me anymore potassium. A side note - I used to work in that very same pharmacy. I was in administration, in fact, but I chose not to ask to speak to the pharmacist. I probably should have, but I didn't want to cause trouble. I just wanted them to understand the condition and do the right thing.

Enter my hero - Nurse Cindy!!!

She was new. She read my chart and was enthusiastic and intrigued. She told me to tell her everything about the disease. We talked for a while, and I offered her the stack of papers that I brought. She is the ONLY nurse who accepted them. She took the info, read it, and Googled the condition further. I warned her and the other nurses that I was on the verge of another serious episode and something had to be done. She jumped on it...called the doc at home at 10:30pm and said "we can't let this happen". Since I could somewhat swallow again, the doc ordered the pharmacy to override their system and administer liquid potassium chloride as well as slow KCl. I was given 60 mEq at 11pm and another 40 mEq at 1am. This was repeated in the morning for a total of 200 mEq. I felt like death, people. It was rough.

But it worked. Day four, labs were drawn and my potassium level was 5.1, which was the goal. I could speak a little better, I could breathe, and I could swallow normally again. PRAISE THE LORD AND PASS THE BACON!

I ate every bit of the horrible breakfast I was given, drank more juice than I had consumed in at least two years, and resumed home medications. The doc canceled all further tests and discharged me, although I was given yet another Lovenox injection on the way out. Relentless, blood-thinning fiends.

I could not thank Cindy enough. I don't know what would have happened to me if not for her. The student nurse arrived later, helped me shower and dress again, and we talked for a while. I thanked her for being fabulous. She thought I was funny but I was dead serious. She handled me better than anyone else there.

Funniest moment of the week - the bed of EPIC FAIL. It finally crapped out on me in the middle of the night and deflated completely. Imagine me butt-first in a sink hole, trying to reach the call button, and calmly asking for someone to come rescue me. We all chuckled as it took two and a half people to pull me out. I say two and half because one person was half dealing with the bed and half dealing with me, so it makes sense in my stupid mind.

Oh, for the record...not one person in that hospital acknowledged the medical bracelet I was wearing the entire time I was there. Sigh.

I will follow this ungodly-long entry with a (short!) video blog to recap the medical specifics...what didn't work, what did, dosages, etc. I will also share my concerns for the future where episodes, breathing, swallowing, and Advance Directive are concerned. I know people have been wanting to know the details of my time in the hospital and I'm sorry I'm late in posting about it. I hope all of this is helpful to someone. If you have any questions, comments are open below. Or if you prefer privacy, email me at ugottafriend4life@gmail.com. Everything is confidential, always.

Sunday, July 1, 2012

Medical ID Bracelet

If you have Periodic Paralysis, I recommend a medical bracelet. Mine contains my name, condition, and a webpage URL that leads to detailed medical information.



Webpages are free if they are blog-based, like this one. I use Blogger.

Medical bracelets can be found all over the internet. You can search for one here.

I've been in the hospital. I will update the blog soon with my experience.

I will also respond to everyone's emails and Facebook messages this week.

Thanks for being here.

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.

Monday, April 16, 2012

"A Letter to Normals"

Someone shared their heart on Facebook, via Fibromyalgia Network, and I wanted to share it. Although not HKPP, I did receive an incorrect diagnosis of FMS when I was a teen. The symptoms are eerily similar, and this lady's rant describes my life in every way. I imagine it applies to all with Periodic Paralysis as well as other systemic diseases. I believe everyone can learn something from this.

https://www.facebook.com/notes/fibromyalgia-network/a-letter-to-the-normals/206566062700764

Feel free to pass it on.

Tuesday, April 10, 2012

One Year Ago

My world came to an abrupt halt. Barely able to walk following a class that I taught, I went to my sister's house and crashed into a Hypokalemic attack that changed my life. I was helped to bed and woke up hours later unable to get up. I managed to reach for my phone and text my brother, who took me to the emergency room at Providence Hospital. By the time I was seen, I could no longer use my limbs or trunk. I was in an episode of flaccid paralysis. Thankfully I could still speak, but the ER doctor interrupted me as I tried to explain what needed to be done. "Yeah I know what it is", he said. Great, I told him. Finally someone knows what it is.

Then I was given a sodium chloride IV, despite my opposition, and was released in just as bad of shape as when I arrived.

Since then, I am weak 24/7 and crash almost daily into episodes of paralysis...sometimes unable to move or speak. I returned to another emergency room in May - Infirmary West - in full blown paralysis, and I was mocked and mistreated the 20 hours I was helplessly in their "care". I was jabbed repeatedly in the chest, yelled at, mocked, called a fake, accused of drug seeking...I have yet to get over it and I pray to God I never experience such a nightmare again. I would rather die, I'm almost sure of it.

After this happened, the MDA finally acknowledged me (I had been trying to get an appointment with their clinic for over a year prior), and the doctor concluded that I am permanently disabled. On my best days, I can walk with assistance of crutches or a walker. There are times when I can drive short distances. I shop and get around large places with a borrowed power chair. I looked at buying a used power chair the week of my birthday. Who shops for a wheelchair for their 34th birthday?

My mother says she supports me yet rejects my condition (in the name of religion) and won't listen to or read any information about it. The MDA doc urged me to make my family understand, but she said she doesn't want to hear it or know anything about it. My father is deceased and didn't believe me when he was alive. My siblings care but have their own lives to worry about, they don't want or need to be concerned with me. I love my relatives...God knows I do, but many are apathetic, skeptical, and make me angry at times. Do they realize it could have easily been them traveling this road? Because it could have.

In spite of my efforts over the past year, my condition has not improved anywhere near the function that I once had. My body is completely different now, severely weak and unstable on a daily basis from the chaos of this progressive disease. I'm grateful for what I have, but I can't help but grieve for all that I've lost and all that could have and should have been.

I am broken.

But, I'm not dead yet. I'll never stop trying, and I won't stop hoping for better days.

Monday, March 12, 2012

No, dear, I will not eat more bananas.

Oh, if only I had a few bucks every time someone said "just eat more bananas", I might be able to afford the fifteen pills I have to take every day thanks to this disease.

Bananas are high in carbohydrates and quickly cancel out the minute amount of potassium that bananas contain. Any carb, regardless of its potassium content, can be detrimental to someone with Familial Hypokalemic Periodic Paralysis, as carbs are one of many triggers of weakness and paralytic episodes. In fact, if the carb overload results in a serious episode, we could die.

This condition is a muscle channel defect that usually requires large amounts of potassium as well as other medications and special restrictions. It is a progressive disease that falls under the umbrella of muscular dystrophy, and there is no cure. Even if bananas did not contain carbs, some of us would have to eat two to four dozen per day to equal the amount of potassium that we have to take on a daily basis just to be able to move our muscles at all. I have talked to a few people with HKPP who do eat them, but they are doing so at their own risk.

Edit Note: 10/16/13 - Details concerning bananas and their carb load can be found at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2374768.

I hope this helps the public understand that bananas are not a solution for this condition.