Although I have written more blog articles about ‘diagnosing’ Periodic Paralysis (PP) than any other subject related to this medical condition, I have decided to write one more blog article about it. I want to tie together information from several of my other articles and add some newer information, especially for new members who are attempting to get a diagnosis. I will start with why we need a diagnosis.
“To stop the insanity and abuse the doctors create by mistreating the condition.”
The medical professionals in our lives need to know that we have Periodic Paralysis and how to treat us or not treat us, as the case may be. They need to know that when we are in paralysis and struggling with arrhythmia, fluctuating blood pressure and heart rate, chocking, breathing issues and pain, that although we cannot open our eyes or speak, we can hear them. They need to know that we are not faking. We are not making it up. Why would we??? Does anyone really think we want to be totally helpless and struggling for our life????
We also need a diagnosis to stop the constant, expensive and insane cycle of testing and retesting for every condition under the sun for an average of twenty years out of our life. (Some of our members did not get a diagnosis until they were in their eighth decade. I myself was diagnosed at the age of 62.) Because genetic testing is costly, narrow, biased and can only diagnose about half or less of all patients, diagnosing must be done clinically, based on symptoms, once “everything else is ruled out.” REALLY?? How many medical conditions exist in which an individual intermittently has episodes of paralysis??
During the cycle of insanity for a diagnosis, drugs of every type are prescribed which are unnecessary and harmful causing more damage and possible death. New symptoms may develop and then more testing is done and new drugs prescribed. The insanity continues. Then comes the diagnosis of “conversion disorder” or “somatic symptoms.” Psychotropic drugs are prescribed at this point. More damage is done and possible death may occur.
Without a diagnosis and proper treatment, the individual naturally becomes more ill because organs in the body are being damaged from the potassium shifting, exercise intolerance and gradual permanent muscle weakness sets in, heart problems get more severe, breathing muscles become affected, osteoporosis, kidney stones develop. Metabolic acidosis can kill us. Adaptive equipment like power wheelchairs and oxygen may be necessary. Without a diagnosis the patients will be unable to receive these much needed aides. Without a diagnosis, disability or social security is impossible to receive.
The child, teenager and young adult with Periodic Paralysis will need a diagnosis for appropriate treatment. He or she will need accommodations in school. Teachers and school nurses need to know how to deal with the symptoms and paralysis and understand what is happening and why. There may be a great deal of school missed. Sports and other activities need to be avoided. A special diet must be followed. Wheelchairs or other adaptive equipment may be needed. Without a diagnosis none of this will happen.
For the adult trying to support a family by holding down a job or a career and living with Periodic Paralysis without a diagnosis and proper treatment may lose their job. The years and years of medical testing, misdiagnosis, wrong medications, inappropriate treatment and more can result in financial ruin. This can lead to homes being lost, divorce may ensue, families will fall apart, friends back away, depression sets in and possible suicide may occur. A clear diagnosis and treatment may help others like employers, family members and friends to understand and be willing to help. Receiving Disability may be possible.
One of the most important results of a diagnosis for the individual with Periodic Paralysis and his or her family is validation. Validation that the illness does truly exist and that he or she is finally believed. They are vindicated. Vindicated of making it up, faking it or being a hypochondriac. They do not have “conversion disorder.” They have been telling the truth.
The question of how to get a diagnosis comes up nearly everyday in our PPN Support Group, especially as each new member joins us. In order to answer this question, much must be explained about the condition in order to understand how one can get diagnosed.
Before a diagnosis can be received, all other medical conditions must be ruled out. The myriad of symptoms looks neurological, so we are sent to neurologists for diagnosing. They begin to test for all of the neurological conditions possible and they also begin to prescribe drugs for neurological conditions. These drugs make us worse and we develop more symptoms and worse symptoms all the while damage is being done creating new symptoms. It is a horrible vicious cycle and due to all of this it takes an average of 20 years to get a diagnosis, if ever.
Types of Diagnosing
As I said previously, Periodic Paralysis is a mineral metabolic disorder. It is typically diagnosed ‘clinically’ (based on symptoms and characteristics) after all else is ruled out by testing. Each form of PP has specific symptoms that can help to distinguish it from other types and other medical conditions. These can include low potassium levels, high potassium levels, normal potassium levels, certain heart issues, episodes of muscle weakness or paralysis and much more. There are also certain characteristics that can accompany Andersen-Tawil Syndrome (ATS), which can make it easier to be diagnosed such as fused/webbed and/or curved fingers and toes, small jaw, low set ears, dental anomalies, long QT heart beats and more.
Problems Involving in Getting a Clinical Diagnosis: Provoking Symptoms
Under no circumstances should an individual provoke his or her symptoms or allow a doctor to provoke his or her symptoms or an episode of paralysis by causing an insulin/glucose overload, omitting medication, ingesting foods or performing activities which are known triggers. This is a very serious thing to do and can lead to death.
For those who may need to tell their doctor's "no" on this issue I will provide some links with information about this.
Also of note is that potassium levels do not have to range outside of normal limits to cause serious, even life-threatening paralysis. These diseases are not the same as having a very low level of potassium (hypokalemia) or high potassium (hyperkalemia) and must not be treated as such. The total body store of potassium is usually normal; it is just in the wrong place."
“Provoking an attack with exercise and diet then trying oral potassium can be diagnostic, but also dangerous as this form of PP has an alternate form known as hyperkalemic periodic paralysis.”
A doctor should be present during testing.
It should be performed in a setting where intensive care, such as ventilation, may be provided if required, with facilities for rapid electrolyte and glucose testing and correction.
Do not test patients with serum potassium disturbances, diabetes mellitus, or renal or cardiac dysfunction. There must be close monitoring of the ECG."
"The best diagnostic indicator is a history of typical episodes. If measured during an episode, serum K may be abnormal. Episodes can sometimes be provoked by giving dextrose and insulin (to cause the hypokalemic form) or KCl (to cause the hyperkalemic form), but only experienced physicians should attempt provocative testing, because respiratory paralysis or cardiac conduction abnormalities may occur with provoked episodes."
It is usually neurologists who do all of the testing because the symptoms look neurological, however, Periodic Paralysis is an ion channelopathy, which is a mineral metabolic disorder, which they do not understand. They will also start giving out drugs for neurological symptoms. These will make the symptom worse and change the symptoms or cause new symptoms for which they will then prescribe new drugs, not realizing that drugs to us are our worst triggers and can even harm and kill us.
It is best to call around until you find a doctor who is willing to work with you, understanding that it may be PP (I talk to the office managers and tell them my story and ask them if any of their doctors would be willing to work with me. Eventually I get a call back. It works well. Usually young doctors looking for a challenge are interested). That way one does not have to waste time, money and energy going from doctor to doctor and being mistreated, abused and humiliated.
Journaling, keeping track of symptoms and triggers, videotaping the episodes, creating a folder with all test results and medical journal articles about PP, and so much more can help to secure a diagnoses.
Problems Involving Genetic Diagnosis
Most people who have Periodic Paralysis have one or more genetic mutations present at birth. Some genetic testing is available, but there is much that someone who is searching for a diagnosis needs to understand about the genetic testing.
Only about 50% of the genetic mutations/forms of PP have been discovered to date so testing results may most likely be negative, because the form you have has yet to be discovered. In most cases, the testing tends to be limited and does not test for all forms that are known (but some of the labs do seem to be doing a little better at that recently, than in previous years).
Unfortunately, most doctors do not understand the above information. When the tests results are negative, the doctors will diagnose with the mental conditions; conversion disorder or a somatic or functional condition. These are difficult to ever get removed from medical records. Some doctors who may have given a ‘clinical’ diagnosis may then remove the PP diagnosis altogether after seeing the negative results.
Genetic testing is very risky unless you have a doctor who understands the above information.
Free genetic testing does now exist and others in this group will encourage you to do this, but I do not for very good reasoning as explained above and for more reasons, which follow.
As far as the free testing goes, everyone (including and especially your doctors) need to understand the above information that only about 50% of the genetic mutations/forms of PP have been discovered to date so testing results may most likely be negative, but it does not mean that you do not have PP. It just means that the form you have has not been discovered yet or that the testing in most cases tends to be limited and does not test for all forms that are known (but the labs do seem to be doing a little better at that recently, than in previous years).
I must include the following information at this point for everyone’s safety and understanding!
Problem With the Drugs and Big Pharma
WARNING ABOUT THE FREE GENETIC TESTING!!
(From an article in our ‘Announcements’)
This company is a 'Big Pharma' company who took over the sales of the latest carbonic anhydrase inhibitor drug that is offered for treating Periodic Paralysis. They are offering free DNA/genetic testing for Periodic Paralysis. They are offering the testing in order to be able to then get you on the drug if you are diagnosed, so they can make the big bucks after charging you or the insurance companies an arm and a leg for a drug that takes a few cents to make. Carbonic anhydrase inhibitors are diuretics that only a few people with PP can take without short term and/or long-term side effects, which can be serious and possibly even cause death.
Many of us in this group and I have had serious effects or have nearly died from trying it or the two other forms of it. (Please read the Blog Article I posted at the end of this article for all the details and history behind this drug as well as the side effects etc, from taking it. There are many links included about the side effects, etc. so be sure to read all of it and the other blog articles I have added to it as well.)
*It is important to understand that there are several forms of PP. Each form has a different way that the paralysis and symptoms occur. One drug cannot possibly work for all of the different forms!
This PPN group is a Support, Education and 'Advocacy' group. This means, besides providing support and sharing information, we also do what we can to keep you safe in all ways. Therefore we advocate for and discuss only all natural ways to manage your symptoms. We cannot advocate for anyone to safely take any drugs, including the carbonic anhydrase inhibitors with what we know about them and what we understand about PP. Nor do we want to be held responsible legally for advocating for them here. We are not doctors nor do we have doctors associated with us, so we cannot discuss drugs in specifics (such as types or amounts, etc.) or tell anyone to take a drug. Please understand that. We can and do, however, provide the information for you to make informed decisions for yourself, which is what we are doing here.
Hopefully, you can see the complete picture now and after reading the following information I am sharing, before you make any decisions to follow through with this company. I do not want to debate this...this is for informational purposes only... “
Please read the following Blog Article with links to other Blog Articles and medically related articles discussing these drugs:
Big Pharma Breaking HIPPA LAW?????
Since writing the above article, some new information on this subject has come to light. I have had members of our PPN Support Group tell me that the pharmaceutical company has approached their doctors and that they are trying to get the doctors to put their patients (our members) on the drug for PP. What our members are asking me is how did the pharmaceutical company obtain their names and those of their doctors?
Who is going into our group and/or other groups and obtaining this information and passing it on??? Or what members of our group might be doing this?
If they are this is breaking Federal HIPPA Law and the rules of our PPN Support Group !!!
When I was approached no less than ten times by the Pharmaceutical Company and their employees, before and after they introduced the new drug, each seeking information about our members, I declined each time to provide any information except to explain why many of our members cannot, nor should they take any drugs, including theirs, which to my dismay after all the hype of a NEW drug, was another carbonic anhydrase inhibitor!
This is partly why I have been very careful to review new members as they have sought to join our group, until very recently, but I am still very careful with each new member. It is also, in part, why our group is closed. I have had pharmaceutical agents attempt to join our group!
That being said, I have been recently impressed with the number of members who are actually getting a diagnosis through the testing. But, many are not. I just want everyone to be aware of the whole/entire picture of the company behind the free testing and the risks of a negative result and the drug/s they are pushing.
I am sure that some of the members will contact you with the information off of this board about testing, though they should not be recruiting you from this PPN Support Group. It is against our rules Please do not make any decisions about genetic testing without seriously considering ALL of the information in this article.
That being said, if you do the testing and it comes back negative for any forms of Periodic Paralysis, Negative Test Results Do NOT Mean the Periodic Paralysis Does Not Exist.
Please remember: If your testing does come back negative, it does not mean that you do not have a form of PP. As stated above, it simply means that the form you have has yet to be discovered or that they did not test for the form you have. Every doctor needs to understand this, but most do not!
The following articles confirm what I have said and may be helpful to share with a doctor, if testing comes back negative:
A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.
A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.
In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.”
Invitae looks only for a few known mutations in SCN4A, CACNA1S, KCNJ2 and RYR1. There are many more that exist that are not searched for. (This is the free one.)
Dante does Whole Genome Sequencing but it is expensive and most insurance will not pay for it.
Blog Articles That May Help To Get A Diagnosis
Living With Periodic Paralysis: The Mystery Unraveled
What Is Periodic Paralysis?: A Disease Like No Other
Videos That May Help To Get A Diagnosis
How To Find A Doctor Who Cares Part One
How To Find A Doctor Who Cares Part Two
How To Get A Diagnosis Part One
How To Get A Diagnosis Part Two
How To Get A Diagnosis Part Three
How To Get A Diagnosis Part Four
The best news I have for you is that you do not need a diagnosis in order to start feeling better and managing your symptoms. All you have to do is follow our methods and ways to manage your symptoms to be the best you can be naturally!!