Having Hypokalemic Periodic Paralysis can cause you to feel like you are alone in the world. It is the same with all types of periodic paralysis. I was lucky to stumble on a small group of people (beyond my family), who shared my symptoms, thirteen years ago. There were not many of us to start, but the effect that this small group has had on periodic paralysis has been amazing. We helped develop webpages like www.hkpp.org and www.periodicparalysis.org Deb kept the most active listserv going and Patrick, Kay, Linda, Jacob and others worked directly with researchers. We have changed the way doctors look at periodic paralysis and helped thousands get better treatment.
My job was to research periodic paralysis and share the information in a way that patients could understand. I've contacted many researchers and have enjoyed meeting with many of them.
Currently there are a number of listservs (private email lists where people discuss symptoms) and a few facebook pages. I am always here to answer questions, but sometimes it helps to have a better way to share stories, symptoms and sorrow.
Some of the email lists can be found here:
If you have a possible diagnosis of any type of periodic paralysis, the contact information is
at http://hkpp.org/general/listserv_page.php
If you wish to be part of the periodic paralysis group that is involved in the annual PPA conference the information is at:
http://67.199.6.152/english/MemberApplication.asp?x=1
For Facebook, the most active group is:
Hypokalemic Periodic Paralysis Network
I am on Facebook and my name is Benita Saatvedt. I am not as active on Facebook but you can send me a message.
I hope you find your answers like I found mine, with the help of others.
Saturday, November 07, 2009
Thursday, February 12, 2009
Saturday, June 07, 2008
What is Periodic Paralysis?
This is my aunt falling to the ground. She is experiencing a hypokalemic periodic paralysis attack. Falling is common if attacks come quickly.
Periodic Paralysis is a disorder you experience episodically. One day you feel fine, the next you're on the floor unable to move. The path you follow from realizing there is a problem to being diagnosed can take decades. First, comes the problem of convincing yourself you are not crazy. Second, you must convince your doctor you are not crazy. Third, you must convince your family and friends.
My attacks have changed over the years. When I was twelve they were simple. I would feel very tired, lie down and than not move for a hour or so. I didn't tell anyone. I believed I was being overly dramatic. My mother had been diagnosed with epilepsy and an AVM. I didn't want epilepsy. I didn't want to be as sick as she was. When she fell to the floor in public, we just waited patiently until she could move. We explained she had epilepsy. We didn't think any more about it.
During this time my Aunts and their children were having weird episodes. Some called them "Buffalo attacks" because you lay on the floor as if you are listening for buffalo. Doctors didn't believe my aunts, my mother or my cousins. I didn't ask and suffered in silence. The episodes of full paralysis came once or twice a year. I still believed I could stand up at any time and that I just didn't want to. When I would become angry, stressed or exercised too much, I experienced bouts of muscle jerking that began in my duodenum and moved out from there. Sometimes I would have sharp pains in my chest. Other times I could not breathe well and tired easily. According to commercials on TV this was normal. Migraines were something everyone had.......
I finally convinced myself I was not "normal" in my late twenties.
For the next 20 years I saw numerous doctors. I never put the symptoms together and they did not ask. My potassium was never checked until It was suggested that I ask. My heart was not checked until my late thirties. Finally little pieces of the puzzle came together. The doctors told me I was crazy, put me on different drugs and told me to exercise more.
I finally was diagnosed at NIH in Bethesda, MD. I still fight to keep that diagnosis.
The key to beating the doctors at their own game is to learn everything you can about periodic paralysis. Go beyond the simple explantions found on websites and read the research. Ask other Periodic Paralysis patients how they deal with their symptoms. One thing about Periodic Paralysis patients, most have been through the same diagnostic nightmare you are going through. There are a few key characteristics that point to periodic paralysis
1. You are not weak all the time. You have weakness after a triggering event. It can be diet, stress, exercise, temperature variations etc.
2. You do not have muscle wasting until late in life. This only occurs if you have let yourself become less active.
3. You have a change in your potassium levels that can be measured. A majority never have their potassium in the low range. It is the shift, up or down, that determines it. If you are normally at 4.2 and your potassium drops to 3.8 or lower, and you suffer weakness. This is hypokalemic periodic paralysis. If your serum potassium rises above 5 and you experience muscle weakness or muscle spasms. This is hyperkalemic. If eating sugar helps, then that is hyperPP. If sugar makes you worse, that is hypoPP. If your potassium swings high or low, your cardiac monitoring shows prolonged QT or bigeminy, and you have mild dysmorphic features, this is Andersen Tawil Syndrome. Very low potassium levels may indicate hyperthyroid PP, renal tubular acidosis, Gitelman's or Bartter's syndrome (usually accompanied by chronically low magnesium levels), Sjogren's and other kidney or acid base disturbances.
The journey from discovery to diagnosis can be very frustrating. One of the top "periodic paralysis" doctors in the USA tends to be the worse when diagnosing periodic paralysis. A Neuromuscular specialists at the local MDA clinic may be the most helpful in getting the right tests run.
It is important to have the right tests, run at the right time with the right equipment. But that is another blog I'll need to write. Just make sure you are off Diamox when taking the tests. Tests, like EMG's and muscle biopsies, need to be done during an attack of weakness. If a doctor ever tells you there is nothing wrong, then he has not looked far enough. Do not be afraid to ask "What is the worst thing it could be"
Your health, your well-being comes down to one thing: How determined are you to feel better? Will you give up eating salt and go on a low sodium diet? Will you exercise everyday (mild to moderate) to keep your muscles from degenerating. If you have HypoPP, will you eat fewer carbohydrates and live on a diabetic diet? If you say no to these things, having a doctor diagnose you will never make you better. It is all about a mindset, some faith in yourself and many ups and downs. Surround yourself with positive people and learn to say I want to fight for my right to feel good! Fight for your right to good medical care. Remember the doctor is your employee. You are hiring him to help you find answers. Fire him/her if they are not doing their job!
Create a dream team of doctors. Be the coach and choose your team wisely. Your life depends on it!
My attacks have changed over the years. When I was twelve they were simple. I would feel very tired, lie down and than not move for a hour or so. I didn't tell anyone. I believed I was being overly dramatic. My mother had been diagnosed with epilepsy and an AVM. I didn't want epilepsy. I didn't want to be as sick as she was. When she fell to the floor in public, we just waited patiently until she could move. We explained she had epilepsy. We didn't think any more about it.
During this time my Aunts and their children were having weird episodes. Some called them "Buffalo attacks" because you lay on the floor as if you are listening for buffalo. Doctors didn't believe my aunts, my mother or my cousins. I didn't ask and suffered in silence. The episodes of full paralysis came once or twice a year. I still believed I could stand up at any time and that I just didn't want to. When I would become angry, stressed or exercised too much, I experienced bouts of muscle jerking that began in my duodenum and moved out from there. Sometimes I would have sharp pains in my chest. Other times I could not breathe well and tired easily. According to commercials on TV this was normal. Migraines were something everyone had.......
I finally convinced myself I was not "normal" in my late twenties.
For the next 20 years I saw numerous doctors. I never put the symptoms together and they did not ask. My potassium was never checked until It was suggested that I ask. My heart was not checked until my late thirties. Finally little pieces of the puzzle came together. The doctors told me I was crazy, put me on different drugs and told me to exercise more.
I finally was diagnosed at NIH in Bethesda, MD. I still fight to keep that diagnosis.
The key to beating the doctors at their own game is to learn everything you can about periodic paralysis. Go beyond the simple explantions found on websites and read the research. Ask other Periodic Paralysis patients how they deal with their symptoms. One thing about Periodic Paralysis patients, most have been through the same diagnostic nightmare you are going through. There are a few key characteristics that point to periodic paralysis
1. You are not weak all the time. You have weakness after a triggering event. It can be diet, stress, exercise, temperature variations etc.
2. You do not have muscle wasting until late in life. This only occurs if you have let yourself become less active.
3. You have a change in your potassium levels that can be measured. A majority never have their potassium in the low range. It is the shift, up or down, that determines it. If you are normally at 4.2 and your potassium drops to 3.8 or lower, and you suffer weakness. This is hypokalemic periodic paralysis. If your serum potassium rises above 5 and you experience muscle weakness or muscle spasms. This is hyperkalemic. If eating sugar helps, then that is hyperPP. If sugar makes you worse, that is hypoPP. If your potassium swings high or low, your cardiac monitoring shows prolonged QT or bigeminy, and you have mild dysmorphic features, this is Andersen Tawil Syndrome. Very low potassium levels may indicate hyperthyroid PP, renal tubular acidosis, Gitelman's or Bartter's syndrome (usually accompanied by chronically low magnesium levels), Sjogren's and other kidney or acid base disturbances.
The journey from discovery to diagnosis can be very frustrating. One of the top "periodic paralysis" doctors in the USA tends to be the worse when diagnosing periodic paralysis. A Neuromuscular specialists at the local MDA clinic may be the most helpful in getting the right tests run.
It is important to have the right tests, run at the right time with the right equipment. But that is another blog I'll need to write. Just make sure you are off Diamox when taking the tests. Tests, like EMG's and muscle biopsies, need to be done during an attack of weakness. If a doctor ever tells you there is nothing wrong, then he has not looked far enough. Do not be afraid to ask "What is the worst thing it could be"
Your health, your well-being comes down to one thing: How determined are you to feel better? Will you give up eating salt and go on a low sodium diet? Will you exercise everyday (mild to moderate) to keep your muscles from degenerating. If you have HypoPP, will you eat fewer carbohydrates and live on a diabetic diet? If you say no to these things, having a doctor diagnose you will never make you better. It is all about a mindset, some faith in yourself and many ups and downs. Surround yourself with positive people and learn to say I want to fight for my right to feel good! Fight for your right to good medical care. Remember the doctor is your employee. You are hiring him to help you find answers. Fire him/her if they are not doing their job!
Create a dream team of doctors. Be the coach and choose your team wisely. Your life depends on it!
Monday, April 21, 2008
Management of Hypokalemic Periodic Paralysis
This is an excellent article by Jacob Levitt, MD
http://www.translational-medicine.com/content/pdf/1479-5876-6-18.pdf
It is up-to-date and covers all the important aspects of the hypokalemic version of familial periodic paralysis.
http://www.translational-medicine.com/content/pdf/1479-5876-6-18.pdf
It is up-to-date and covers all the important aspects of the hypokalemic version of familial periodic paralysis.
Tuesday, March 04, 2008
Maybee Family Syndrome
BIRTH TO AGE 10:
hyper-sensitive to loud noises
"Floppy" baby, lack of muscle tone (rare symptom)
Exaggerated Startle response
Hyperactive - Possible ADHD
AGE 10 TO 21:
Boys start symptoms - beginning of puberty
Girls usually after menstrual cycle begins
Sensitive to bright light, flashing lights (low magnesium)
Can't walk or stand for long periods of time
Depression - (low HDL or high carbohydrate intake)
Bipolar - Manic Depressive (Low magnesium)
Exercise intolerance
Irritability or depression, after high carb meal / snack
Constipation - diarrhea
Anxiety
Pre-syncope
Migraine headaches
Severe Menstrual cramps (low magnesium)
Nausea
General Features for all Age groups
Brain Fog (low potassium)
Short-term memory problems
Inability to think
Forget words
Unable to comprehend what someone is saying
Stumble over or stutter words
Cardio-dysrhythmia -
Long QT on 48-hour holter monitor
Brachycardia and ventricular tachycardia
Heart palpitations
Fainting or
Pre-syncope (nearly fainting)
Bigeminy (PVC's)
Chest tightness
Periodic Ataxia (stumbling gait)
Muscle cramps or spasms
Joint aches and pains after ingesting high salt foods (often the next day)
Temperature intolerance (can’t get too hot, causes nausea and diarrhea if dehydrated)
Tend to get very cold and can’t warm up
Height shorter than expected
Restless Leg Syndrome
Muscle spasms / Tetany
Muscle rigidity (rare symptom) prior to attack (hypothyroidism)
Periodic profound muscle weakness
Maybee Family is prone to autoimmune disorders: including Crohn's, ITP, Lupus, Hashimoto's Thyroiditis
AGES 30 TO 50
Increased heart problems
Transient Ischemic Attacks (TIA - small stroke)
Climbing stairs and walking long distances gets harder
Complete paralysis happen more frequently changing from once a year to weekly
Lid lag
Twitching eye or facial twitches
Diet begins to affect a person more
Women have more symptoms during peri-menopause 30 years to 50 years
Prone to anemia (hypothyroidism)
Very Low HDL (good fat)
OVER 50:
Permanent muscle weakness?
Fewer episodes of total paralysis, more weakness?
Small strokes (TIA's)
hyper-sensitive to loud noises
"Floppy" baby, lack of muscle tone (rare symptom)
Exaggerated Startle response
Hyperactive - Possible ADHD
AGE 10 TO 21:
Boys start symptoms - beginning of puberty
Girls usually after menstrual cycle begins
Sensitive to bright light, flashing lights (low magnesium)
Can't walk or stand for long periods of time
Depression - (low HDL or high carbohydrate intake)
Bipolar - Manic Depressive (Low magnesium)
Exercise intolerance
Irritability or depression, after high carb meal / snack
Constipation - diarrhea
Anxiety
Pre-syncope
Migraine headaches
Severe Menstrual cramps (low magnesium)
Nausea
General Features for all Age groups
Brain Fog (low potassium)
Short-term memory problems
Inability to think
Forget words
Unable to comprehend what someone is saying
Stumble over or stutter words
Cardio-dysrhythmia -
Long QT on 48-hour holter monitor
Brachycardia and ventricular tachycardia
Heart palpitations
Fainting or
Pre-syncope (nearly fainting)
Bigeminy (PVC's)
Chest tightness
Periodic Ataxia (stumbling gait)
Muscle cramps or spasms
Joint aches and pains after ingesting high salt foods (often the next day)
Temperature intolerance (can’t get too hot, causes nausea and diarrhea if dehydrated)
Tend to get very cold and can’t warm up
Height shorter than expected
Restless Leg Syndrome
Muscle spasms / Tetany
Muscle rigidity (rare symptom) prior to attack (hypothyroidism)
Periodic profound muscle weakness
Maybee Family is prone to autoimmune disorders: including Crohn's, ITP, Lupus, Hashimoto's Thyroiditis
AGES 30 TO 50
Increased heart problems
Transient Ischemic Attacks (TIA - small stroke)
Climbing stairs and walking long distances gets harder
Complete paralysis happen more frequently changing from once a year to weekly
Lid lag
Twitching eye or facial twitches
Diet begins to affect a person more
Women have more symptoms during peri-menopause 30 years to 50 years
Prone to anemia (hypothyroidism)
Very Low HDL (good fat)
OVER 50:
Permanent muscle weakness?
Fewer episodes of total paralysis, more weakness?
Small strokes (TIA's)
Tuesday, January 22, 2008
Answering a question about documenting potassium
About documenting potassium levels:
The first thing to do is get a lab order for an electrolytes blood draw written on a prescription from his doctor. Carry that in your purse. Second, Get a baseline blood draw at the doctors office when he is feeling well. When he is feeling very tired, that is the time to have his blood drawn. Once or twice is all that is needed. (Feeling tired can also be described as carrying the entire weight of your body without muscle support - which basically is happening.) Give the "Stat" blood draw prescription for electrolytes to the lab. Have them make a copy for their records and keep the original. Having this prescription with you will help when you are away from home or need to go to the Emergency room.
Here is a good website for information on getting blood draws http://www.hkpp.org/physicians/potassium_draw.html
Some of us have what's called a Horiba Cardy Potassium Ion meter. It uses saliva to test potassium levels. It is a little expensive about $250.00 and not covered by insurance. It can provide peace of mind. I found ours to be very helpful. Information on the meter is at:
http://www.hkpp.org/general/cardyKmeter.html
I bought our meter at:
http://www.qasupplies.com/compotionmet.html
Other ways to determine if someone's potassium is low:
Frequent urination or not urinating at all for hours Or Dry mouth that can't be relieved by drinking water or Feeling a little foggy in the brain Or Feeling very tired.
Drinking Klor-Con EF can help. It is an effervescent version of potassium available at your pharmacy with a prescription. Orange tastes the best. Most use Potassium Chloride. If your son has problems with his stomach try potassium bicarbonate. Try to always take potassium on a full stomach or after eating.
My son and I use our taste buds to determine if we need potassium. This doesn't work for everyone. I find Klor Con EF is wonderful tasting when my potassium is low. It tastes salty and too strong if I don't need it.
I hope this helps. The website I mentioned above is a collection of information we have gathered over the last ten years. A woman in Australia, Gillian, has been instrumental in putting it all together in a workable format.
bsaatvedt "at symbol" comcast.net
The first thing to do is get a lab order for an electrolytes blood draw written on a prescription from his doctor. Carry that in your purse. Second, Get a baseline blood draw at the doctors office when he is feeling well. When he is feeling very tired, that is the time to have his blood drawn. Once or twice is all that is needed. (Feeling tired can also be described as carrying the entire weight of your body without muscle support - which basically is happening.) Give the "Stat" blood draw prescription for electrolytes to the lab. Have them make a copy for their records and keep the original. Having this prescription with you will help when you are away from home or need to go to the Emergency room.
Here is a good website for information on getting blood draws http://www.hkpp.org/physicians/potassium_draw.html
Some of us have what's called a Horiba Cardy Potassium Ion meter. It uses saliva to test potassium levels. It is a little expensive about $250.00 and not covered by insurance. It can provide peace of mind. I found ours to be very helpful. Information on the meter is at:
http://www.hkpp.org/general/cardyKmeter.html
I bought our meter at:
http://www.qasupplies.com/compotionmet.html
Other ways to determine if someone's potassium is low:
Frequent urination or not urinating at all for hours Or Dry mouth that can't be relieved by drinking water or Feeling a little foggy in the brain Or Feeling very tired.
Drinking Klor-Con EF can help. It is an effervescent version of potassium available at your pharmacy with a prescription. Orange tastes the best. Most use Potassium Chloride. If your son has problems with his stomach try potassium bicarbonate. Try to always take potassium on a full stomach or after eating.
My son and I use our taste buds to determine if we need potassium. This doesn't work for everyone. I find Klor Con EF is wonderful tasting when my potassium is low. It tastes salty and too strong if I don't need it.
I hope this helps. The website I mentioned above is a collection of information we have gathered over the last ten years. A woman in Australia, Gillian, has been instrumental in putting it all together in a workable format.
bsaatvedt "at symbol" comcast.net
Sunday, January 06, 2008
Where to now?
I've sent blood samples to Dr. Ptacek at UCLA, Dr. Tawil at Strong Medical-Rochester NY, Dr. Lehmann-Horn in Germany and elsewhere. My extended family has been involved in two separate genetic studies. We still do not know what exactly it is we have. Does having a genetic match to a known disorder make living with periodic paralysis easier? Will finally having an answer end my search? Fifteen years is a long time to search and still be without an answer. I must continue searching, bugging researchers and doctors for 6 good reasons: my three sons, daughter and two granddaughter. I just wish someone would promise to look at my DNA sample to find my syndrome. Being dumped in a bucket with a hundred other people's DNA makes me feel insignificant. My next quest is to place my DNA in a DNA bank. Someday I hope they can answer my questions: What do I have? Why am I suffering from continued weakness and crippling pain? Can it be cured?"
Thursday, December 20, 2007
Vacuoles in Periodic Paralysis
My son's muscle biopsy showed under the electron microscope the following signs of periodic paralysis: dilated sarcoplasmic recticulum, vacuoles containing amorphous material and all of the signs listed below. With his episodes of profound weakness and family history, this should indicate Hypokalemic periodic paralysis to any doctor.
Dr. Rabi Tawil, director of the Periodic Paralysis Center, emailed my son's doctor and said that he does not have periodic paralysis. He said in the email that the test was probably done incorrectly. Dr. Tawil said that he had diagnosed my son as NOT having periodic paralysis - so he doesn't have it. This has kept us from being involved in any research. We can not be clinically defined as having periodic paralysis because he says so. I find this interesting since Dr. Griggs, his boss, saw my son and pointed out that he was affected by a neuromuscular myopathy. He identified this from watching him walk. I write this as proof that we have hypokalemic periodic paralysis with arrhythmia. It is also to show Dr. Tawil he is wrong.
http://www.neuro.wustl.edu/neuromuscular/pathol/hopp.htm
Hypokalemic Periodic Paralysis
--------------------------------------------------------------------------------
Pathology: Early; During attacks of weakness
Vacuoles: Internal; Contain amorphous debris
Tubular aggregates: Occasional
H & E and NAHD stains
Vacuoles: Evolution
Non-vacuolated regions
T-tubule system: Dilated & Proliferating
Sarcoplasmic reticulum: Dilated; Contains amorphous material; Surrounded by glucogen
Evolving vacuoles
Appearance: Rarefaction
Stain for NADH & Acid phosphatase
Poorly demarcated
Contain amorphous material & Multiple small vacuoles
Intermediate vacuoles
Well demarcated
Contain amorphous matrix ± Calcified SR vesicles
Mature vacuoles
Limited by membrane: Stabilized by cytoskeletal proteins
Contain fine granular material
Remodeled vacuoles
Mature vacuoles containing sarcoplasmic invaginations with glycogen granules
Ruptured vacuoles: May produce muscle fiber necrosis
Dr. Rabi Tawil, director of the Periodic Paralysis Center, emailed my son's doctor and said that he does not have periodic paralysis. He said in the email that the test was probably done incorrectly. Dr. Tawil said that he had diagnosed my son as NOT having periodic paralysis - so he doesn't have it. This has kept us from being involved in any research. We can not be clinically defined as having periodic paralysis because he says so. I find this interesting since Dr. Griggs, his boss, saw my son and pointed out that he was affected by a neuromuscular myopathy. He identified this from watching him walk. I write this as proof that we have hypokalemic periodic paralysis with arrhythmia. It is also to show Dr. Tawil he is wrong.
http://www.neuro.wustl.edu/neuromuscular/pathol/hopp.htm
Hypokalemic Periodic Paralysis
--------------------------------------------------------------------------------
Pathology: Early; During attacks of weakness
Vacuoles: Internal; Contain amorphous debris
Tubular aggregates: Occasional
H & E and NAHD stains
Vacuoles: Evolution
Non-vacuolated regions
T-tubule system: Dilated & Proliferating
Sarcoplasmic reticulum: Dilated; Contains amorphous material; Surrounded by glucogen
Evolving vacuoles
Appearance: Rarefaction
Stain for NADH & Acid phosphatase
Poorly demarcated
Contain amorphous material & Multiple small vacuoles
Intermediate vacuoles
Well demarcated
Contain amorphous matrix ± Calcified SR vesicles
Mature vacuoles
Limited by membrane: Stabilized by cytoskeletal proteins
Contain fine granular material
Remodeled vacuoles
Mature vacuoles containing sarcoplasmic invaginations with glycogen granules
Ruptured vacuoles: May produce muscle fiber necrosis
Thursday, July 05, 2007
Finding your way through the Diagnosis Maze
While sitting in a dental chair, having my teeth scraped and my gums tortured, I listened to my hygienist’s story. Initially, she talked about being awake during a surgery. She described being completely awake and aware, yet unable to move. She talked about the pain as they searched for a vein after her blood pressure fell. It is a problem that affects patients in one out of every 100 surgeries. I told her I had experienced that many times, but without being in surgery.
She further discussed the shivering, feeling chilled and disoriented in the recovery room. I nodded my head. When her fingers were free of my mouth, I asked if anyone else had problems with anesthesia during surgery. Yes, her father, and her daughter. I explained that it possibly could be a genetic disorder called Malignant Hyperthermia. I was very familiar with it because my family suffered the same problems. As in all genetic disorders, the mutation that causes Malignant Hyperthermia lies within just one of tens of thousands of genes. Each gene can suffer any number of mutations. Genetic disorders often cause no symptoms whatsoever; while others prevent viable births and end in miscarriage. For those patients that carry a genetic mutation that is unknown, we live in a strange world between normal and near- death. I didn’t want her to have a genetic disorder. My life was controlled by mine. It's took me fifteen years to be diagnosed, my mother never knew the name of her disorder.
As I continued to sit in the dentist chair, my next question remained silent while she polished my teeth. Before I could ask, she said her daughter suffered low potassium, weakness and had heart palpitations. Her daughter was currently seeing a heart rhythm specialist. I knew the specialist well. She discussed her and her daughter’s frustration at not being able to find answers. Her daughter suffered worse symptoms than she did and doctors didn’t have an answer. I did. I explained she probably had a genetic disorder, very similar to my own, Hypokalemic Periodic Paralysis. We discussed her symptoms. I gave her the name of a great neurologist and a website with answers. It was map through the maze of diagnostic dissatisfaction.
It was a chance discussion. A majority of people keep their symptoms and frustrations with doctors to themselves. Often they turn to the Internet for answers, only to be left confused, or worse, convinced they have a fatal illness. The Internet is a wonderful source if you have some guidelines. There are great websites, simple to understand and easy to find answers on. Yet, a majority of websites are filled with medical jargon or poorly constructed search engines. It is a game of Roulette. I hope to make the journey easier. I’ll share tips to help you find the information you need. I’ll explain the information you should take to your medical appointments and avoid communication problems with your doctor. Once you have a guideline, the path is easier to follow, no matter what the illness.
The internet came online 15 to 20 years ago with few websites and little information. You were left to search University databases for journal articles about common disorders. People were just beginning to find their way through the different websites when they started finding each other. My first searches for Hypokalemic Periodic Paralysis yielded two or three articles from The Netherlands and Denmark. It wasn’t much and no known doctors were familiar with the disorder. I was diagnosed with anxiety disorders, hypoglycemia, bipolar disorder, and more. One doctor wrote “patient complains of 27 different symptoms.” She promptly sent me to a psychologist. I knew that I was not crazy. My mother and Aunt were suffering the same symptoms: migraines, muscle weakness, difficulty remembering words, extreme fatigue, and the list go on. My next doctor was able to diagnose my symptoms, including low levels of potassium, with Hypokalemic Periodic paralysis. He sent me to a specialist who sent me back on the psychological merry-go-wrong.
Ten years ago I found a small group of people with similar symptoms. We met through the magic of the Internet. We were spread around the United States and Canada. One thing we did share was our symptoms and frustrations. I no longer felt alone. I purchased a medical dictionary and started learning what words meant. “Hypo” means low, “Hyper” means high. My mother, aunt, and cousin joined the group. We believed that answers would soon be coming.
A good place to start is by checking symptoms. One of the best is at
http://symptoms.webmd.com/default.htm
It separates the body into zones, age and sex. It can be difficult to explain symptoms to a doctor. If you educate yourself on common phrasing you will feel more comfortable discussing them with your physician. Narrowing down areas of discomfort to a specific region will save you time and money at the doctor’s office. Still, some symptoms are hard to describe. Your arm feels heavy. This could be described as a feeling of numbness or weakness. Is it difficult to raise your arm above your head? Do you have trouble holding items in your hand? Is your arm unresponsive? Does it feel heavy because you have hammered a hundred nails into the side of a building? Each of these describes a different set of circumstances. Each can lead the doctor toward the wrong diagnosis. It is important to spend time truly identifying your symptoms. No one is expecting you to learn words like “blepharospasm” when you are experiencing a simple eyelid twitch. The ability to give a simple explanation of your symptoms is an art form. Overdoing your explanation will raise red flags in your doctor’s mind. It is best to give straight forward well-informed explanations.
If your symptoms go beyond simple explanations, you’ll need to go a step further. Some symptoms are episodic or don’t happen all the time. You may need to gather other types of documentation. Doctors need data. They need proof that something is wrong. Doctors are trained scientists and are expected to follow established protocol. If you can shorten this step it helps. You may need to gather three things: medical records, photos, and diaries.
You have the right to ask for your medical records. This requires you to fill out medical release forms. On these forms you will need to ask for all lab work, doctor’s notes, x-rays, on so on. Every hospital, doctor’s office, or lab will have a variation of the release. If you are unable to find a medical release form, you can write a letter authorizing the Health Information Management Department to release a copy of your medical record. The medical record release form or letter must state your name, date of birth, social security number, date of service, name of hospital where services were performed, and the person/organization to receive the information, along with the address where the information is to be sent. The form/letter must be signed and dated by you. You cannot request medical records for children over 18 years old or for any other adult unless you are a legal guardian. There can be a cost associated with requesting your medical records. If the record is to be forwarded to another doctor, the fee is generally waived.
Diaries or journal are difficult to keep unless you are very organized. It is best to have a journal or calendar in plain view for jotting down notes. Do not write an extensive intricate interpretation of your symptoms. Keep it simple. That is why a calendar works well. Record the time of day, symptoms, trigger (if known), and how long it lasted. Each symptom will vary in the way your report it. Here are some examples:
• June 10th 10:00 am, heart palpitations, lasted twenty minutes, felt like heart was flopping back and forth. Trigger: I ate pizza last night.
• Aug 13th midnight, left arm numb, tightness in throat, chest pain, called EMT’s, Hospital EKG showed bigeminy. Resolved after given IV (Save EKG)
• Sept. 21, 5:30 pm extremely tired and weak, ate cake at 4:00 pm checked potassium 3.8
Everyone will keep a different type of journal: food, symptom, medicine. It depends on what is most important to track. Examples of symptom journals can be found at:
http://www.fibromyalgia-symptoms.org/fibromyalgia_journal.html
An excellent book is at Amazon.com
MemoryMinder Personal Health Journal (A Wellness Diary & Symptoms Log)
http://www.amazon.com/MemoryMinder-Personal-Journal-Wellness-Symptoms/dp/0963796801
Photos and videos will capture the attention of doctors and nurses. They can completely document a visible symptom. These can be kept on a DVD or in a photo book. You can easily create a book of your photos at Kodak Easy share Gallery for little money. A mini photo book is adequate for your needs and starts at $6.99. I have found the interface to be very easy to use.
http://www.kodakgallery.com/Welcome.jsp
The key to finding a diagnosis is preparation and patience. It may take years. It took my family five generations. Preparation helps you to identify key symptoms and narrow your list down to something manageable. Doctors and patients are overwhelmed today. They lack time and have an abundance of information. It costs money for each visit, test and the time to travel to your doctor visit. It is well worth the time that you put in to identifying problems. Having a diagnosis won’t make your illness disappear, but it helps you to manage and in most cases defeat it. I wish you luck on your journey. If you have questions you can email me at bsaatvedt “at symbol” Comcast. net.
She further discussed the shivering, feeling chilled and disoriented in the recovery room. I nodded my head. When her fingers were free of my mouth, I asked if anyone else had problems with anesthesia during surgery. Yes, her father, and her daughter. I explained that it possibly could be a genetic disorder called Malignant Hyperthermia. I was very familiar with it because my family suffered the same problems. As in all genetic disorders, the mutation that causes Malignant Hyperthermia lies within just one of tens of thousands of genes. Each gene can suffer any number of mutations. Genetic disorders often cause no symptoms whatsoever; while others prevent viable births and end in miscarriage. For those patients that carry a genetic mutation that is unknown, we live in a strange world between normal and near- death. I didn’t want her to have a genetic disorder. My life was controlled by mine. It's took me fifteen years to be diagnosed, my mother never knew the name of her disorder.
As I continued to sit in the dentist chair, my next question remained silent while she polished my teeth. Before I could ask, she said her daughter suffered low potassium, weakness and had heart palpitations. Her daughter was currently seeing a heart rhythm specialist. I knew the specialist well. She discussed her and her daughter’s frustration at not being able to find answers. Her daughter suffered worse symptoms than she did and doctors didn’t have an answer. I did. I explained she probably had a genetic disorder, very similar to my own, Hypokalemic Periodic Paralysis. We discussed her symptoms. I gave her the name of a great neurologist and a website with answers. It was map through the maze of diagnostic dissatisfaction.
It was a chance discussion. A majority of people keep their symptoms and frustrations with doctors to themselves. Often they turn to the Internet for answers, only to be left confused, or worse, convinced they have a fatal illness. The Internet is a wonderful source if you have some guidelines. There are great websites, simple to understand and easy to find answers on. Yet, a majority of websites are filled with medical jargon or poorly constructed search engines. It is a game of Roulette. I hope to make the journey easier. I’ll share tips to help you find the information you need. I’ll explain the information you should take to your medical appointments and avoid communication problems with your doctor. Once you have a guideline, the path is easier to follow, no matter what the illness.
The internet came online 15 to 20 years ago with few websites and little information. You were left to search University databases for journal articles about common disorders. People were just beginning to find their way through the different websites when they started finding each other. My first searches for Hypokalemic Periodic Paralysis yielded two or three articles from The Netherlands and Denmark. It wasn’t much and no known doctors were familiar with the disorder. I was diagnosed with anxiety disorders, hypoglycemia, bipolar disorder, and more. One doctor wrote “patient complains of 27 different symptoms.” She promptly sent me to a psychologist. I knew that I was not crazy. My mother and Aunt were suffering the same symptoms: migraines, muscle weakness, difficulty remembering words, extreme fatigue, and the list go on. My next doctor was able to diagnose my symptoms, including low levels of potassium, with Hypokalemic Periodic paralysis. He sent me to a specialist who sent me back on the psychological merry-go-wrong.
Ten years ago I found a small group of people with similar symptoms. We met through the magic of the Internet. We were spread around the United States and Canada. One thing we did share was our symptoms and frustrations. I no longer felt alone. I purchased a medical dictionary and started learning what words meant. “Hypo” means low, “Hyper” means high. My mother, aunt, and cousin joined the group. We believed that answers would soon be coming.
A good place to start is by checking symptoms. One of the best is at
http://symptoms.webmd.com/default.htm
It separates the body into zones, age and sex. It can be difficult to explain symptoms to a doctor. If you educate yourself on common phrasing you will feel more comfortable discussing them with your physician. Narrowing down areas of discomfort to a specific region will save you time and money at the doctor’s office. Still, some symptoms are hard to describe. Your arm feels heavy. This could be described as a feeling of numbness or weakness. Is it difficult to raise your arm above your head? Do you have trouble holding items in your hand? Is your arm unresponsive? Does it feel heavy because you have hammered a hundred nails into the side of a building? Each of these describes a different set of circumstances. Each can lead the doctor toward the wrong diagnosis. It is important to spend time truly identifying your symptoms. No one is expecting you to learn words like “blepharospasm” when you are experiencing a simple eyelid twitch. The ability to give a simple explanation of your symptoms is an art form. Overdoing your explanation will raise red flags in your doctor’s mind. It is best to give straight forward well-informed explanations.
If your symptoms go beyond simple explanations, you’ll need to go a step further. Some symptoms are episodic or don’t happen all the time. You may need to gather other types of documentation. Doctors need data. They need proof that something is wrong. Doctors are trained scientists and are expected to follow established protocol. If you can shorten this step it helps. You may need to gather three things: medical records, photos, and diaries.
You have the right to ask for your medical records. This requires you to fill out medical release forms. On these forms you will need to ask for all lab work, doctor’s notes, x-rays, on so on. Every hospital, doctor’s office, or lab will have a variation of the release. If you are unable to find a medical release form, you can write a letter authorizing the Health Information Management Department to release a copy of your medical record. The medical record release form or letter must state your name, date of birth, social security number, date of service, name of hospital where services were performed, and the person/organization to receive the information, along with the address where the information is to be sent. The form/letter must be signed and dated by you. You cannot request medical records for children over 18 years old or for any other adult unless you are a legal guardian. There can be a cost associated with requesting your medical records. If the record is to be forwarded to another doctor, the fee is generally waived.
Diaries or journal are difficult to keep unless you are very organized. It is best to have a journal or calendar in plain view for jotting down notes. Do not write an extensive intricate interpretation of your symptoms. Keep it simple. That is why a calendar works well. Record the time of day, symptoms, trigger (if known), and how long it lasted. Each symptom will vary in the way your report it. Here are some examples:
• June 10th 10:00 am, heart palpitations, lasted twenty minutes, felt like heart was flopping back and forth. Trigger: I ate pizza last night.
• Aug 13th midnight, left arm numb, tightness in throat, chest pain, called EMT’s, Hospital EKG showed bigeminy. Resolved after given IV (Save EKG)
• Sept. 21, 5:30 pm extremely tired and weak, ate cake at 4:00 pm checked potassium 3.8
Everyone will keep a different type of journal: food, symptom, medicine. It depends on what is most important to track. Examples of symptom journals can be found at:
http://www.fibromyalgia-symptoms.org/fibromyalgia_journal.html
An excellent book is at Amazon.com
MemoryMinder Personal Health Journal (A Wellness Diary & Symptoms Log)
http://www.amazon.com/MemoryMinder-Personal-Journal-Wellness-Symptoms/dp/0963796801
Photos and videos will capture the attention of doctors and nurses. They can completely document a visible symptom. These can be kept on a DVD or in a photo book. You can easily create a book of your photos at Kodak Easy share Gallery for little money. A mini photo book is adequate for your needs and starts at $6.99. I have found the interface to be very easy to use.
http://www.kodakgallery.com/Welcome.jsp
The key to finding a diagnosis is preparation and patience. It may take years. It took my family five generations. Preparation helps you to identify key symptoms and narrow your list down to something manageable. Doctors and patients are overwhelmed today. They lack time and have an abundance of information. It costs money for each visit, test and the time to travel to your doctor visit. It is well worth the time that you put in to identifying problems. Having a diagnosis won’t make your illness disappear, but it helps you to manage and in most cases defeat it. I wish you luck on your journey. If you have questions you can email me at bsaatvedt “at symbol” Comcast. net.
Saturday, March 31, 2007
Frustrated Ranting
It's 4:00 AM, I'm frustrated and cannot sleep. My son recently missed a great deal of school due to his periodic paralysis. Each time his weakness lasted up to a week. It came on suddenly, without warning, after a year of reprieve. For two different weeks he lay in bed, sleeping. I was completely unprepared this time. It was caused by his growing an inch and the hormones affecting his calcium levels. He had bouts of bradycardia which tired him even more. I called his doctors looking for help and he saw his pediatrician and neurologist. No one could help.
At conferences last week I had to explain to each of his high school teachers what was going on. (He has a 504 plan that specifies his limitations in PE and when certain classes must be scheduled.) His counselor (new this year) completely failed. She didn't notify the teachers of his plan. She didn't explain why he would miss school. Many of his teachers believed he was skipping. His grades were proof. Now he is under a great deal of pressure to get missing assignments in. My son is a talented hard-working gifted student. It just isn't fair.
The questions I have are: What can be done to when his school ignores your concerns. My son doesn't want to be different. He wants to have fun, eat pizza and stay up all night. Where can he go to school that allows him the freedom to learn? Is there a place without the barriers of competition and ignorance? If he was wheelchair-bound his disabilty would be impossible to ignore. Having a hidden disabilty that can cause profound muscle weakness, at will, is not fun. I hate this disorder. I wish someone would fix it. I've grown tired of trying to find a name for this disorder. We have given researchers everything they need to find our mutation. Why can't I find a researcher that cares about my family, my frustrations and is willing to solve a mystery? Where are all of the good scientists when you need one?
I'm done now, I feel better. Now I need to go prepare for the battle that begins on Monday. One thing this disorder has given me is tenacity and a big vocabulary to use on unsuspecting administrators.
At conferences last week I had to explain to each of his high school teachers what was going on. (He has a 504 plan that specifies his limitations in PE and when certain classes must be scheduled.) His counselor (new this year) completely failed. She didn't notify the teachers of his plan. She didn't explain why he would miss school. Many of his teachers believed he was skipping. His grades were proof. Now he is under a great deal of pressure to get missing assignments in. My son is a talented hard-working gifted student. It just isn't fair.
The questions I have are: What can be done to when his school ignores your concerns. My son doesn't want to be different. He wants to have fun, eat pizza and stay up all night. Where can he go to school that allows him the freedom to learn? Is there a place without the barriers of competition and ignorance? If he was wheelchair-bound his disabilty would be impossible to ignore. Having a hidden disabilty that can cause profound muscle weakness, at will, is not fun. I hate this disorder. I wish someone would fix it. I've grown tired of trying to find a name for this disorder. We have given researchers everything they need to find our mutation. Why can't I find a researcher that cares about my family, my frustrations and is willing to solve a mystery? Where are all of the good scientists when you need one?
I'm done now, I feel better. Now I need to go prepare for the battle that begins on Monday. One thing this disorder has given me is tenacity and a big vocabulary to use on unsuspecting administrators.
Thursday, September 07, 2006
Migraine or Periodic Paralysis
Trying to find the right set of symptoms to share with a doctor or researcher can be a daunting task. As you can see from the list created below, my family's disorder can take many forms.
What researchers are looking for is a "phenotype" that can be related to a specific genotype. In plain English: "a group of observable physical or physiological traits resulting from a specific genetic mutation".
Identifying those specific symptoms have taken me years to identify. At this time I would narrow it down to three:
1. Migraine with aura including abdominal migraines
2. Cardiac manifestations: including bigeminy, hypercontractibility, and hypocontractibility
3. Periodic paralysis with potassium fluctuations, sodium sensitivity and hypercalcemia.
Now what phenotypes would relate to all three. Well, I've identified two possibilities: ATP1A2 and KCNE3. Of course there are others to consider including:
Na,K+-ATPase in neurons and skeletal muscle
Ryr (Ryanodine receptor) calcium-sensing
KATP channels - glucose and insulin
TRPM7 - Transmembrane uptake of magnesium, specifically extracellular to intracellular uptake
To learn about ATP1A2: the Familial Hemiplegic Migraine gene, which is specifically related to Na,K+-ATPase, you can read about
Migraine variants listed at:
http://www.emedicine.com/NEURO/topic219.htm
CVS: Cyclic Vomiting syndrome can be found at the same website
My son and I have tested negatively for all known periodic paralysis genes. I keep looking, asking questions and wondering if there is a researcher out there willing to find out what ails my family.
What researchers are looking for is a "phenotype" that can be related to a specific genotype. In plain English: "a group of observable physical or physiological traits resulting from a specific genetic mutation".
Identifying those specific symptoms have taken me years to identify. At this time I would narrow it down to three:
1. Migraine with aura including abdominal migraines
2. Cardiac manifestations: including bigeminy, hypercontractibility, and hypocontractibility
3. Periodic paralysis with potassium fluctuations, sodium sensitivity and hypercalcemia.
Now what phenotypes would relate to all three. Well, I've identified two possibilities: ATP1A2 and KCNE3. Of course there are others to consider including:
Na,K+-ATPase in neurons and skeletal muscle
Ryr (Ryanodine receptor) calcium-sensing
KATP channels - glucose and insulin
TRPM7 - Transmembrane uptake of magnesium, specifically extracellular to intracellular uptake
To learn about ATP1A2: the Familial Hemiplegic Migraine gene, which is specifically related to Na,K+-ATPase, you can read about
Migraine variants listed at:
http://www.emedicine.com/NEURO/topic219.htm
CVS: Cyclic Vomiting syndrome can be found at the same website
My son and I have tested negatively for all known periodic paralysis genes. I keep looking, asking questions and wondering if there is a researcher out there willing to find out what ails my family.
Sunday, March 12, 2006
Beginning of Andersen-Tawil Syndrome
My great-grandfather, Orlow William Maybee left journal entries written while traveling to Alaska during the gold rush. Near Mt Vernon, WA, at age 39, he succumbed to weakness, cardiac failure and difficulty breathing. His life-long problems brought about a premature death. On that cold trail he left a young, grieving widow, his mother and his beloved children. The account of his declining health, his medical records, picture and height gives clues to his having ATS.
Orlow was a short man, only 5'4. His wife, a statuesque, 6'0 ft. In 1899, after serving in the Spanish-American War, he was diagnosed with "remittent malarial fever". Starting in 1910 he was unable to perform manual labor because of heart problems and general weakness. In 1911, at age 36, his medical records list a "greatly hypertrophies heart", chronic endocarditis and pronounced valvular lesions".
Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder. Approximately 50% of all descendants will carry a variation of the disorder. Dr. Louis Ptacek of UCSF describes a trilogy of symptoms: Periodic Paralysis, cardio-dysrhythmia and dysmorphic features. You need only two of the three to be considered an ATS patient. Periodic paralysis is caused by an ion shift within the skeletal muscles that lead to profound muscle weakness. Most with ATS have hyperkalemia (high level of potassium in the blood). From my observations, my family seems to have shifts toward hyperkalemia and/or hypokalemia (low potassium). The real cause seems to be salt sensitivity (eating salt above 1500 mg per day) and chloride sensitivity. My late mother, my son and I cannot drink water with chlorine. I cannot take potassium with chloride to alleviated low potassium levels. It needs to be potassium bicarbonate. I will add more later.
Orlow was a short man, only 5'4. His wife, a statuesque, 6'0 ft. In 1899, after serving in the Spanish-American War, he was diagnosed with "remittent malarial fever". Starting in 1910 he was unable to perform manual labor because of heart problems and general weakness. In 1911, at age 36, his medical records list a "greatly hypertrophies heart", chronic endocarditis and pronounced valvular lesions".
Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder. Approximately 50% of all descendants will carry a variation of the disorder. Dr. Louis Ptacek of UCSF describes a trilogy of symptoms: Periodic Paralysis, cardio-dysrhythmia and dysmorphic features. You need only two of the three to be considered an ATS patient. Periodic paralysis is caused by an ion shift within the skeletal muscles that lead to profound muscle weakness. Most with ATS have hyperkalemia (high level of potassium in the blood). From my observations, my family seems to have shifts toward hyperkalemia and/or hypokalemia (low potassium). The real cause seems to be salt sensitivity (eating salt above 1500 mg per day) and chloride sensitivity. My late mother, my son and I cannot drink water with chlorine. I cannot take potassium with chloride to alleviated low potassium levels. It needs to be potassium bicarbonate. I will add more later.
Saturday, September 10, 2005
Management Tips
Why eat a low carbohydrate diet?
Insulin affects potassium levels. Eating too many carbohydrates like sugar, potatoes, bread, or other high carb items, will release too much insulin into the bloodstream. This pushes the potassium into the cells, causing weakness, (tiredness, sleepiness, fatigue, muscle weakness etc.). A good resource for diet information is:
http://www.diabetes.ca/Section_About/NutritionIndex.asp
Why eat a low sodium diet?
Hypernatremia (too much sodium outside the cell), occurs because of hypokalemia (low potassium levels in the blood - high levels inside the muscle cells). Hypokalemia leads to Nephrogenic Diabetes Insipidus. (You lose water, through urination, due to electrolyte disturbances). To combat this disturbance you need to eat a low sodium diet. This means less than 2400 mg a day.
Signs of High salt levels are: nausea, restless, anorexia, and vomiting occur early. These symptoms are followed by altered mental status, lethargy or irritability, and, eventually, stupor or coma. Musculoskeletal symptoms also often occur with twitching, hyperreflexia, ataxia, or tremor.
http://www.emedicine.com/emerg/topic263.htm#section~clinical
Next time I will answer:
Why is eating a healthy focused diet, better than taking vitamins?
How do I keep my heart from feeling jumpy?
How do I know I have arrhythmia versus something else?
Why do I feel so bad?
What is brain fog and how can I manage it?
What are the signs that I have an attack coming?
Can I keep driving?
If my potassium level is within normal limits, why am I paralyzed?
Vial of life and ICE?
Insulin affects potassium levels. Eating too many carbohydrates like sugar, potatoes, bread, or other high carb items, will release too much insulin into the bloodstream. This pushes the potassium into the cells, causing weakness, (tiredness, sleepiness, fatigue, muscle weakness etc.). A good resource for diet information is:
http://www.diabetes.ca/Section_About/NutritionIndex.asp
Why eat a low sodium diet?
Hypernatremia (too much sodium outside the cell), occurs because of hypokalemia (low potassium levels in the blood - high levels inside the muscle cells). Hypokalemia leads to Nephrogenic Diabetes Insipidus. (You lose water, through urination, due to electrolyte disturbances). To combat this disturbance you need to eat a low sodium diet. This means less than 2400 mg a day.
Signs of High salt levels are: nausea, restless, anorexia, and vomiting occur early. These symptoms are followed by altered mental status, lethargy or irritability, and, eventually, stupor or coma. Musculoskeletal symptoms also often occur with twitching, hyperreflexia, ataxia, or tremor.
http://www.emedicine.com/emerg/topic263.htm#section~clinical
Next time I will answer:
Why is eating a healthy focused diet, better than taking vitamins?
How do I keep my heart from feeling jumpy?
How do I know I have arrhythmia versus something else?
Why do I feel so bad?
What is brain fog and how can I manage it?
What are the signs that I have an attack coming?
Can I keep driving?
If my potassium level is within normal limits, why am I paralyzed?
Vial of life and ICE?
Monday, August 29, 2005
Monday, July 04, 2005
Manipulating Diet, Enzymes, Amino acids and Hormones Offer Relief
Na, K+-ATPase, PIP(2), glucose, insulin....Can we learn to manipulate these enzymes and hormones to alleviate symptoms of Andersen-Tawil Syndrome? Currently, I use magnesium and potassium to keep my potassium levels in check. I use fish oil and taurine to affect PIP(2). Diets, lower in carbohydrates and higher in fat and protein, keep insulin, epinephrine and glucose flucuations in check. What else can we do to help ourselves?
Na, K+-ATPase is a new and interesting path to follow:
- How can patients manipulate Na, K+-ATPase to repolarize their muscles during severe muscle weakness?
- Could inhibiting Na,K+-ATPase restrict potassium from entering the cell?
- Does activating the sodium pumps cause potassium to return to the intracellular space within the muscle?
- "Salbutamol is used to stimulate the sodium pumps in Hyperkalemia Periodic Paralysis to reverse the paralysis state. Salbutamol could entirely prevent or suppress the hyperkalemia, the loss of force and the attacks. This is due to the stimulating effect of this beta2-agonist on the Na,K-pumps in skeletal muscle. Due to the electrogenic action of the Na,K-pumps, the muscle cells repolarise and K uptake from the plasma is favoured" T. Clausen
- Hypothyroidism, and lack of exercise inhibit Na,K+-ATPase.
- Na, K+-ATPase (sodium pumps) are very important to the minute to minute distribution of potassium and sodium.
- Taking thyroid medicines reduce the effectiveness of these pumps.
- Insulin affects K+
- Taurine restores Na-K+ATPase function
- Intense exercise up-regulates Na+,K+-ATPase
- Acutely downregulated muscle Na+, K+, and Ca2+ transport processes may be important factors in fatigue during prolonged exercise in humans. --Researchers examined whether Na+-K+ pump stimulation, elicited by muscle contraction or insulin, increases the plasma membrane Na+-K+ pump content ([3H]ouabain binding) in muscles from young rats.
- Alpha-lipoic acid increases Na+K+ATPase activity
- Insulin mediates Na+,K+-ATPase 1- and 2-subunit translocation to the skeletal muscle plasma membrane via a PI 3-kinase-dependent mechanism. --The pump, with bound ATP, binds 3 intracellular Na+ ions. ATP is hydrolyzed, leading to phosphorylation of a cytoplasmic loop of the pump and release of ADP. A conformational change in the pump exposes the Na+ ions to the outside, where they are released. The pump binds 2 extracellular K+ ions, leading somehow to dephosphorylation of the alpha subunit. ATP binds and the pump reorients to release K+ ions inside the cell. The pump is ready to go again. --Chronic or sustained changes in pump activity within cells is usually due to increases in transcription rate or mRNA stability.
- Major hormonal controls over pump activity can be summarized as follows: Thyroid hormones appear to be a major player in maintaining steady-state concentrations of pumps in most tissues. This effect appears to result from stimulation of subunit gene transcription. Aldosterone is a steroid hormone with major effects on sodium homeostasis. It stimulates both rapid and sustained increases in pump numbers within several tissues. The sustained effect is due to enhanced transcription of the genes for both subunits. Catecholamines have varied effects, depending on the specific hormone and tissue. For example, dopamine inhibits Na+-K+-ATPase activity in kidney, while epinephrine stimulates pump activity in skeletal muscle. These effects seem to be mediated via phosphorylation or dephosphorylation of the pumps.Insulin is a major regulator of potassium homeostasis and has multiple effects on sodium pump activity. Within minutes of elevated insulin secretion, pumps containing alpha-1 and 2 isoforms have increased affinity for sodium and increased turnover rate. Sustained elevations in insulin causes upregulation of alpha-2 synthesis. In skeletal muscle, insulin may also recruit pumps stored in the cytoplasm or activate latent pumps already present in the membrane.
- Stimulation of active Na(+),K(+) transport by adrenaline, the beta(2)-agonist salbutamol, calcitonin gene-related peptide (CGRP) and dibutyryl cyclic AMP increased initial rate of force recovery by 183-433% and steady-state force level by 104-143%.
- Na(+),K(+) pump stimulation promotes restoration of contractility, possibly via its electrogenic action. Salbutamol and calcitonin gene-related peptide (CGRP) induced a marked decrease in intracellular Na+ and stimulation of 42K+ uptake.
Sunday, July 03, 2005
Omega 3 Fatty Acids Aid in Relief of Depression
One of the "miracle" cures I have found for my version of Andersen-Tawil Syndrome, is taking fish oil daily. I've noticed an increase in muscle strength and a reduction in depression and other symptoms. The following article gives one explanation for the relief of these symptoms.
i-Newswire, 2005-05-27 - During recent years, omega-3 fatty acids have enjoyed increased popularity as numerous studies have shown that supplementing diets with fish oil ( a natural source of this polyunsaturated fatty acid ) does everything from reducing the risk of heart disease to preventing arthritis. There is also evidence that depression may be associated with a dietary deficiency in omega-3 fatty acids. This "phospholipid hypothesis" of depression has been supported by research showing that omega-3 fatty acid concentration in the blood of depressed patients is lower than that in control patients. "The "phospholipid hypothesis" of depression postulates that decreased omega-3 fatty acid intake, and hence, perhaps decreased brain omega-3 fatty acid content, could be responsible for the disease," explains Dr. Pnina Green of Tel Aviv University. "In humans, because of high dietary variability and the obvious inability to examine brain tissue, the theory is backed up mainly by indirect evidence. The availability of the Flinders Sensitive Line rat, an animal model of depression, overcomes both these obstacles." In the Journal of Lipid Research study, Dr. Green in collaboration with Dr Gal Yadid of Bar-Ilan University, Ramat Gan, used the Flinders Sensitive Line rats to investigate the link between omega-3 fatty acids and depression. They examined the brains of the depressed rats and compared them with brains from normal rats. Surprisingly, they found that the main difference between the two types of rats was in omega-6 fatty acid levels and not omega-3 fatty acid levels. Specifically, they discovered that brains from rats with depression had higher concentrations of arachidonic acid, a long-chain unsaturated metabolite of omega-6 fatty acid. Arachidonic acid is found throughout the body and is essential for the proper functioning of almost every body organ, including the brain. It serves a wide variety of purposes, from being a purely structural element in phospholipids to being involved in signal transduction and being a substrate for a host of derivatives involved in second messenger function. "The finding that in the depressive rats the omega-3 fatty acid levels were not decreased, but arachidonic acid was substantially increased as compared to controls is somewhat unexpected," admits Dr. Green. "But the finding lends itself nicely to the theory that increased omega-3 fatty acid intake may shift the balance between the two fatty acid families in the brain, since it has been demonstrated in animal studies that increased omega-3 fatty acid intake may result in decreased brain arachidonic acid." Although far less attention has been paid to dietary requirements for omega-6 fatty acids, which can be found in most edible oils and meat, perhaps in the future depression may be controlled by increasing omega-3 fatty acid intake and decreasing omega-6 fatty acid intake.
i-Newswire, 2005-05-27 - During recent years, omega-3 fatty acids have enjoyed increased popularity as numerous studies have shown that supplementing diets with fish oil ( a natural source of this polyunsaturated fatty acid ) does everything from reducing the risk of heart disease to preventing arthritis. There is also evidence that depression may be associated with a dietary deficiency in omega-3 fatty acids. This "phospholipid hypothesis" of depression has been supported by research showing that omega-3 fatty acid concentration in the blood of depressed patients is lower than that in control patients. "The "phospholipid hypothesis" of depression postulates that decreased omega-3 fatty acid intake, and hence, perhaps decreased brain omega-3 fatty acid content, could be responsible for the disease," explains Dr. Pnina Green of Tel Aviv University. "In humans, because of high dietary variability and the obvious inability to examine brain tissue, the theory is backed up mainly by indirect evidence. The availability of the Flinders Sensitive Line rat, an animal model of depression, overcomes both these obstacles." In the Journal of Lipid Research study, Dr. Green in collaboration with Dr Gal Yadid of Bar-Ilan University, Ramat Gan, used the Flinders Sensitive Line rats to investigate the link between omega-3 fatty acids and depression. They examined the brains of the depressed rats and compared them with brains from normal rats. Surprisingly, they found that the main difference between the two types of rats was in omega-6 fatty acid levels and not omega-3 fatty acid levels. Specifically, they discovered that brains from rats with depression had higher concentrations of arachidonic acid, a long-chain unsaturated metabolite of omega-6 fatty acid. Arachidonic acid is found throughout the body and is essential for the proper functioning of almost every body organ, including the brain. It serves a wide variety of purposes, from being a purely structural element in phospholipids to being involved in signal transduction and being a substrate for a host of derivatives involved in second messenger function. "The finding that in the depressive rats the omega-3 fatty acid levels were not decreased, but arachidonic acid was substantially increased as compared to controls is somewhat unexpected," admits Dr. Green. "But the finding lends itself nicely to the theory that increased omega-3 fatty acid intake may shift the balance between the two fatty acid families in the brain, since it has been demonstrated in animal studies that increased omega-3 fatty acid intake may result in decreased brain arachidonic acid." Although far less attention has been paid to dietary requirements for omega-6 fatty acids, which can be found in most edible oils and meat, perhaps in the future depression may be controlled by increasing omega-3 fatty acid intake and decreasing omega-6 fatty acid intake.
Friday, June 24, 2005
Na, K+-ATPase
Chronic hypokalemia reduces the amount of potassium that can be taken back inside the cell (intracellular). People that take K-dur or Micro-K will need to take 3x's as much potassium to replenish the intracellular levels. They will lose most of it in their urine. It takes a long period of time to replenish the potassium.
Friday, June 03, 2005
Andersen-Tawil (ATS) and PIP(2)
PMID:12086641
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12086641&query_hl=18
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12086641&query_hl=18
Sunday, May 29, 2005
Articles in Pubmed
1:
Pouget J, Philip N, Faugere G, Pellissier JF.
Related Articles,
Links
[Andersen syndrome: a particular form of paralysis with cardiac dysrhythmia]Rev Neurol (Paris). 2004 May;160(5 Pt 2):S38-42. French. PMID: 15269659 [PubMed - indexed for MEDLINE]
2:
Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM.
Related Articles,
Links
Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations. Characteristic T-U-Wave Patterns Predict the KCNJ2 Genotype.Circulation. 2005 May 23; [Epub ahead of print] PMID: 15911703 [PubMed - as supplied by publisher]
Pouget J, Philip N, Faugere G, Pellissier JF.
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[Andersen syndrome: a particular form of paralysis with cardiac dysrhythmia]Rev Neurol (Paris). 2004 May;160(5 Pt 2):S38-42. French. PMID: 15269659 [PubMed - indexed for MEDLINE]
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Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM.
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Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations. Characteristic T-U-Wave Patterns Predict the KCNJ2 Genotype.Circulation. 2005 May 23; [Epub ahead of print] PMID: 15911703 [PubMed - as supplied by publisher]
Wednesday, January 05, 2005
Researchers find table salt blocks crucial potassium channels
Researchers find table salt blocks crucial potassium channels
by Leigh MacMillan
Vanderbilt University Medical Center investigators recently discovered a molecular cause for sensitivity to low potassium.
Potassium, one of the key electrolytes floating around in the bloodstream, can be a killer. Not enough of it, or too much of it, can provoke dangerous arrhythmias.
Writing in the May issue of Nature Neuroscience, the investigators report that sodium blocks a crucial potassium channel called HERG, an effect that is especially powerful when there is little or no potassium around.
"It was a surprise that the sodium -- the table salt -- in our bloodstream really wants to block the HERG channel completely. That's unprecedented for a potassium channel," said Dr. Jeffrey R. Balser, James Taloe Gwathmey Clinician-Scientist, associate professor of anesthesiology and pharmacology and associate dean for physician-scientist development.
HERG channels, doughnut-like pores that let potassium cross the cell membrane, are especially important in the electrically excitable cells of the heart and brain. And when they don't work correctly, individuals are at risk for a life-threatening cardiac arrhythmia known as Torsades de pointes, and may also be at risk for seizures.
Genetic mutations that produce a faulty HERG channel are associated with a disorder called "long QT syndrome" that predisposes patients to the potentially fatal Torsades de pointes. Drugs that block the HERG channel have the same effect.
"The number of drugs that block HERG and can cause Torsades de pointes is very large," Balser said. "The FDA is now insisting that almost all new drugs that are marketed be tested for their HERG-blocking potential. So the whole issue surrounding HERG and its regulation is becoming a major issue in biomedical science and pharmacology."
Balser's interest in the HERG channel was sparked by the channel's strange behavior. Others had shown that raising the potassium concentration outside a cell dramatically increases the electrical current (potassium moving) through the HERG channel.
"But, we would expect that if we raise potassium outside the cell, the driving force for potassium to go through the HERG channel would go down, and therefore the current should get smaller," Balser said.
"Instead, the current gets huge. That was puzzling -- how can raising external potassium make currents bigger when they should get smaller?"
Sleepless nights as a medical resident also made Balser well aware of the importance of serum potassium levels.
"Every house officer gets a lot of calls for potassium," he said. "Patients in the intensive care unit, who are on a lot of drugs that can block HERG, are at exceptional risk for arrhythmias. Keeping potassium levels up is a major part of the care of critically ill patients.
"So as a physician-scientist, I found HERG particularly appealing. It was clearly clinically relevant and was also a puzzle from a biophysical standpoint."
Balser and his colleagues found that raising potassium outside the cell only increases the HERG current when sodium is also present.
They concluded that the potassium outside the cell is actually regulating sodium blockade of the HERG channel in order to fine-tune HERG current, and therefore cellular excitability.
"Right now, if you didn't have any potassium in your bloodstream to get in sodium's way, all of your HERG channels would be completely blocked by sodium, and you would be in serious trouble," he said.
Of course, most healthy individuals are not at risk for having low levels of potassium. But individuals who are taking diuretics -- high blood pressure or heart failure patients -- are continuously losing potassium.
If given a drug that blocks HERG, these patients may be at exceptional risk for arrhythmias.
"The current work helps us understand why people are so sensitive to potassium and helps us look for ways, other than raising potassium, to overcome that sensitivity -- ways to stop the table salt from attacking our HERG channels," Balser said.
Alternatives to raising potassium are important because the electrolyte has a very narrow therapeutic range. High potassium concentrations also provoke arrhythmias.
Balser's group will seek alternatives by examining how sodium blocks the HERG channel.
"If we understand how sodium blocks current through the HERG channel, we may be able to develop safer drugs that increase HERG currents and protect people at risk for seizures and arrhythmias," he said.
Balser's colleagues in the departments of anesthesiology and pharmacology are Hirotaka Numaguchi, Ph.D.; J.P. Johnson Jr., Ph.D.; and Christina I. Petersen, Ph.D. The work was supported by the National Institutes of Health and the American Heart Association.
by Leigh MacMillan
Vanderbilt University Medical Center investigators recently discovered a molecular cause for sensitivity to low potassium.
Potassium, one of the key electrolytes floating around in the bloodstream, can be a killer. Not enough of it, or too much of it, can provoke dangerous arrhythmias.
Writing in the May issue of Nature Neuroscience, the investigators report that sodium blocks a crucial potassium channel called HERG, an effect that is especially powerful when there is little or no potassium around.
"It was a surprise that the sodium -- the table salt -- in our bloodstream really wants to block the HERG channel completely. That's unprecedented for a potassium channel," said Dr. Jeffrey R. Balser, James Taloe Gwathmey Clinician-Scientist, associate professor of anesthesiology and pharmacology and associate dean for physician-scientist development.
HERG channels, doughnut-like pores that let potassium cross the cell membrane, are especially important in the electrically excitable cells of the heart and brain. And when they don't work correctly, individuals are at risk for a life-threatening cardiac arrhythmia known as Torsades de pointes, and may also be at risk for seizures.
Genetic mutations that produce a faulty HERG channel are associated with a disorder called "long QT syndrome" that predisposes patients to the potentially fatal Torsades de pointes. Drugs that block the HERG channel have the same effect.
"The number of drugs that block HERG and can cause Torsades de pointes is very large," Balser said. "The FDA is now insisting that almost all new drugs that are marketed be tested for their HERG-blocking potential. So the whole issue surrounding HERG and its regulation is becoming a major issue in biomedical science and pharmacology."
Balser's interest in the HERG channel was sparked by the channel's strange behavior. Others had shown that raising the potassium concentration outside a cell dramatically increases the electrical current (potassium moving) through the HERG channel.
"But, we would expect that if we raise potassium outside the cell, the driving force for potassium to go through the HERG channel would go down, and therefore the current should get smaller," Balser said.
"Instead, the current gets huge. That was puzzling -- how can raising external potassium make currents bigger when they should get smaller?"
Sleepless nights as a medical resident also made Balser well aware of the importance of serum potassium levels.
"Every house officer gets a lot of calls for potassium," he said. "Patients in the intensive care unit, who are on a lot of drugs that can block HERG, are at exceptional risk for arrhythmias. Keeping potassium levels up is a major part of the care of critically ill patients.
"So as a physician-scientist, I found HERG particularly appealing. It was clearly clinically relevant and was also a puzzle from a biophysical standpoint."
Balser and his colleagues found that raising potassium outside the cell only increases the HERG current when sodium is also present.
They concluded that the potassium outside the cell is actually regulating sodium blockade of the HERG channel in order to fine-tune HERG current, and therefore cellular excitability.
"Right now, if you didn't have any potassium in your bloodstream to get in sodium's way, all of your HERG channels would be completely blocked by sodium, and you would be in serious trouble," he said.
Of course, most healthy individuals are not at risk for having low levels of potassium. But individuals who are taking diuretics -- high blood pressure or heart failure patients -- are continuously losing potassium.
If given a drug that blocks HERG, these patients may be at exceptional risk for arrhythmias.
"The current work helps us understand why people are so sensitive to potassium and helps us look for ways, other than raising potassium, to overcome that sensitivity -- ways to stop the table salt from attacking our HERG channels," Balser said.
Alternatives to raising potassium are important because the electrolyte has a very narrow therapeutic range. High potassium concentrations also provoke arrhythmias.
Balser's group will seek alternatives by examining how sodium blocks the HERG channel.
"If we understand how sodium blocks current through the HERG channel, we may be able to develop safer drugs that increase HERG currents and protect people at risk for seizures and arrhythmias," he said.
Balser's colleagues in the departments of anesthesiology and pharmacology are Hirotaka Numaguchi, Ph.D.; J.P. Johnson Jr., Ph.D.; and Christina I. Petersen, Ph.D. The work was supported by the National Institutes of Health and the American Heart Association.
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