Serene Forest

Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts

Wednesday, June 26, 2019

An Overview Of Fighting For And Receiving A Diagnosis For Periodic Paralysis




An Overview Of Fighting For And Receiving A Diagnosis
For
Periodic Paralysis


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.

Why Do We Need a Diagnosis?

 “To stop the insanity and abuse the doctors create by mistreating the condition.”

People with Periodic Paralysis need a diagnosis. We need it for safety reasons in the doctor’s office, the dentist’s office, an ambulance ride, the ER, the hospital, for surgeries and in any emergency. Most of us cannot take any drugs or medications due to idiosyncratic, paradoxical and iatrogenic effects (I have written more blogs written about this) nor can we have IV’s because sodium and glucose can shift our potassium even lower or higher and causes other life-threatening symptoms nor can we tolerate anesthesia due to possible malignant hyperthermia and/or more life-threatening arrhythmia, paralysis, possible cessation of breathing and death. We need a diagnosis so we can be safe and free from harm in any and all situations.

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.

And so, “Why do we need a diagnosis?” We need a diagnosis because we want a chance at the quality of life everyone else is experiencing. We need a diagnosis because we want to be treated with dignity and respect. We need a diagnosis because we want to be free of or ease our paralysis, arrhythmia, heart issues, breathing issues and more with the possibility of proper treatment or medication. We need a diagnosis because we would like to use our family's hard earned money to take care of our needs rather than paying for unnecessary testing and harmful drugs. We need a diagnosis so we can obtain adaptive equipment to make our lives and that of or loved ones easier.  We need a diagnosis so we can be safe in emergency situations. We need a diagnosis because we want to live!!!

However, there are many issues regarding how to obtain a diagnosis!


Understanding the Problems With Diagnosing Periodic Paralysis

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.

PP is a very rare, little understood, under diagnosed, often misdiagnosed, inherited medical condition that is diagnosed using the process of elimination or exclusion; once all else is ruled out, unless there is very clear indication of high or low potassium shifts associated with periods of weakness or paralysis and/or if a genetic mutation is discovered. (This is not usually the case.)

If anyone's symptoms are atypical, different or not ‘textbook’ which is a great majority of us, (including issues with no potassium shifting when tested, experiencing pain or other odd symptoms or other conditions co-existing with our episodes of muscle weakness and/or paralysis) then the ‘specialists’ or ill-informed doctors using old, archaic information existing on-line do not recognize it or understand that it can be atypical (different) or exist with other conditions. They may believe that potassium must shift out of ‘normal’ ranges in order to be PP. They do not understand that some of us with PP have a different ‘normal’ level for our potassium than other patients or about other forms of PP such as Normokalemic Periodic Paralysis or Andersen-Tawil Syndrome (ATS). When in medical school, doctors are given one paragraph in their medical training about PP. They are taught that PP is too rare to ever be seen in a patient during their lifetime as a doctor.

One must find a doctor (any type, but best to stay away from neurologists except for the testing to rule everything else out) who is willing to work with them and study it and understand it and be willing to diagnose it, clinically, based on symptoms and characteristics. Otherwise, a diagnosis is almost unobtainable.

PP is a mineral metabolic disorder, also known as an ion channelopathy related to potassium. On a cellular level, if the potassium is triggered to shift in and out of the cells (by many things...drugs the worst offender), it does so in error. This causes many symptoms and the possibility of total paralysis.

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.

So testing by a neurologist and other specialists is necessary, but not the drugs they ultimately prescribe. At the point everything else is ruled out, Periodic Paralysis should be diagnosed, but instead the neurologists will diagnose with mental disorders known as conversion disorder or a somatic condition or a functional disorder of some form. Then they refer patients to psychiatrists where different forms of drugs like anti-psychotics or antidepressants and more are prescribed.

Thus. Like me...50 years later...after much damage from many misdiagnoses and many drugs I did not need...I finally received a diagnosis!

This cycle has to stop. In the twenty-first century it should not take 20 to 50 years to fight for a diagnosis, all the while living in “diagnosis limbo” as symptoms get worse and irreversible.


Types of Diagnosing

Clinical Diagnosis

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.

A 'clinical' diagnosis for PP is a perfectly acceptable diagnosis!


Problems Involving in Getting a Clinical Diagnosis: Provoking Symptoms

Warning!

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.

Some uninformed doctors using very old, archaic information about diagnosing PP may attempt to ‘provoke’ a patient’s symptoms in order to see them and to ‘prove’ that they have PP.  This should not be done. I would like to address this serious issue. At this point it is well known that it is a dangerous thing to do and can have serious implications, namely death for some people.

For those who may need to tell their doctor's "no" on this issue I will provide some links with information about this.

"Diagnosis
This disease is unusually difficult to diagnose. Patients often report years of wrong diagnosis and treatments that made them worse instead of better. Part of this may be that migraines are present in up to 50% of patients and can cause a confusing array of symptoms including headaches, speech difficulties and visual, auditory or sensory auras. DNA testing is available for only a half dozen common gene mutations, while dozens of known mutations are possible but are not routinely tested. Electromyography (EMG) findings are not specific. The old glucose/insulin provocative testing can cause life-threatening symptoms and should not be used.

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."
https://en.wikipedia.org/wiki/Periodic_paralysis

“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.”

"Provocation testing
Provocative testing, eg exercise test, or insulin or glucose infusion, can be employed but, for safety, is best within secondary care:[6]

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."
https://patient.info/doctor/hypokalaemic-periodic-paralysis

"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."

How To Get A Clinical Diagnosis


As stated previously, getting a diagnosis is very difficult unless you have symptoms that are very typical and as described and limited in the archaic textbooks and information on line. We know it takes an average of 20 years to get diagnosed with PP (remember, mine took over 50 years). That is because it is diagnosed after all else is ruled out. Once all else is ruled out, we have discovered the doctors (usually the neurologists) prefer to diagnose with a mental disorder rather than doing more research or saying they do not know what it is because they can then pass you on to someone else...a psychiatrists!

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.

As far as all of the testing goes, an EMG will not diagnose PP (though some of our members have had doctors diagnose after an EMG) and will not rule it out either and it can rule out other conditions. MRI's will not diagnose PP, but will rule out other things as well. Muscle biopsies are invasive and cannot diagnose PP. The only way blood work will be helpful is if you have low or high potassium during an episode, which is caught at the moment you are having it.  Many, of us have episodes within normal potassium levels. Potassium shifts very quickly usually and by the time our blood is tested has returned to normal levels.

The best way to get a diagnosis is to find an MD or internal med doctor who is willing to work with us. Any type of doctor can diagnose PP. Mine was done by accident by two doctors (electro cardiologist and renal specialist) working together on my case. (They provoked my symptoms (I nearly died) giving me anesthesia after I told them not to. They did not listen and scoffed at the idea. Then they saw what happened). Again, this can be done based on symptoms (clinically).

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.

I have written several blog articles about how to get a diagnosis and I have written books with information in them on how to do it. Links to these are included in this article.


Genetic Diagnosing

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!!

(I do not want to debate this. This is for informational purposes only.)
(From an article in our ‘Announcements’
)

“Hello All,
I do not do this very often but I feel the need to bring this issue to your attention here, in this group, before you see it somewhere else or in case you have already seen it and are planning to take the test or just wondering about it. PLEASE BEWARE!!! There are several issues that you need to be aware of before you contact these people for free genetic testing.

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.

There are three forms of the drug and they are all the same...carbonic anhydrase inhibitors and they are sulfa based. There are short and long term side effects; even if one can take it in the beginning, the side effects can cause one to stop after awhile and damage can be done to many organs including the kidneys and liver and can create metabolic acidosis, a serious condition that we are already prone to, just by the nature of PP being a mineral metabolic disorder. There are other issues for children (under 18), who should not take these, including growth concerns. Testing has not been done on children.

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! 

*(Those of you who do take it and are successful you are lucky, but may not be able to take it forever and still need to work on the natural ways to deal with the side effects and/or the episodes you continue to have, some from the drug itself. Remember, the Periodic Paralysis Network and this Periodic Paralysis Network Support Group was designed and created for those of us who cannot tolerate the drugs or most drugs...this issue is still not up for debate here.)

This medication used to cost what a bottle of aspirin used to cost a few years ago for a month's prescription. The ‘Big Pharma’ company took it and changed the name and now charges about $163.00 for 50 mg tablet. At that cost, they can afford to pay for the cost of the genetic tests!

Limited and Biased Testing

Another important point to know about this testing is that it is very limited. Only CN4A, CACNA1S, KCNJ2 and RYR1 will be tested for...leaving out a significant number of the actual forms that have been discovered so far. This means that it is biased and limited. Up until now only about 50% of the forms of PP have been discovered...so this means that a person has a very slim chance of this testing revealing a form of PP!!

Once you do the testing and the results are negative, the doctors who do not understand this information will then declare that you do not have PP and the 'conversion disorder' diagnosis usually follows. So if you have a 'clinical' diagnosis, based on your symptoms, it is best to stick with it and avoid this testing or any other DNA testing (they are all limited and biased)...rather than to risk losing your diagnosis. This has happened to many of our members.

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:

"New" Drug For Periodic Paralysis $163.80 For One 50mg Tablet!!

***
New as of June 26, 2019

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?

Are other PP Groups providing these names and information??? Please beware of the information you are giving inadvertently in other groups (and check to see if the groups are public.)

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!
***

With all of the above considered, as long as everyone understands what they are doing and the risk involved if doctors do not understand when the results are negative, then the testing can be a useful tool for some. We already have enough of us getting conversion disorder diagnoses, and more, without setting us up for more disappointment. Also, one must be aware that some of our members who have received a clinical diagnosis have done the testing later with negative results and have had their clinical diagnoses taken away because doctors do not understand that only some forms of PP are being tested for in the genetic testing. This is a serious issue.

I just want to let everyone understand the risks of the testing and the drugs.

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:

"What do the results of genetic tests mean?

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done.

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.”
https://ghr.nlm.nih.gov/primer/testing/interpretingresults

Here is another one:

"Genetic diagnosis is often unreliable as only a few of the more common gene locations are tested, but even with more extensive testing 20–37% of people with a clinical diagnosis of hypokalemic periodic paralysis have no known mutation in the two known genes.[7]"
https://en.wikipedia.org/wiki/Hypokalemic_periodic_paralysis

One more:
"Of all individuals meeting diagnostic criteria for HypoKPP, approximately 30% do not have a pathogenic variant identified in either of these known genes."


The Genetic Testing

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







Our Books


Living With Periodic Paralysis: The Mystery Unraveled


The Periodic Paralysis Guide And Workbook: Be The Best You Can Be Naturally (Designed especially to aid in getting a diagnosis)

A Bill Of Rights For Periodic Paralysis Patients

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




In Conclusion

A diagnosis is not easy to get, but it is possible. There is nothing wrong with securing a ‘clinical’ diagnosis based on symptoms and characteristics. Genetic testing is possible but many risks come with it if doctors do not understand the limitations of the testing. Negative test results do not mean that a person does not have PP. It only means that the type of PP that the person has was not tested for on that particular test. A positive test result does not mean that one should take the drugs being pushed by other PP Groups and the pharmaceutical company. They can be and are very dangerous to some of us. Just because someone can take the drugs, does not mean that they will always be able to take them. There are short and long term serious side effects from them. The drugs do not stop all of the symptoms and everyone still needs to follow all of the natural ways to manage the PP symptoms anyway, or will need to in the future.

A diagnosis does not actually help a person to manage their symptoms, but it helps us to be protected and to receive help in many ways, like adaptive equipment or being able to get Disability benefits and more. There is little a doctor can do once a diagnosis is obtained except to provide ‘supportive’ care and protect us in emergency situations. We must do the work ourselves to manage our symptoms in all natural ways and methods. We have the information to do that here at the Periodic Paralysis Network in our Support Group, our Blog Articles and our books.

I hope this information is helpful and I hope you will be able to get a diagnosis sooner rather than later. I am sorry for what you are going through. I understand since it took me over 50 years to get a diagnosis. I was there once. Do not give up!!!

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!!



Until Later...


Monday, October 6, 2014

Conversion Disorder Again?? Really??


Hello All,

It appears I need to write one more blog about diagnosing Periodic Paralysis. There are so many aspects to it, that I find I need to write about it often.


One of our members who recently had genetic testing wrote this morning to let us know that the testing had come back negative for Periodic Paralysis and her doctor is now ready to diagnosis her with ‘conversion disorder.’ She also mentioned that the testing was for only two genetic mutations of Periodic Paralysis! This is unbelievable and unconscionable. She has intermittent episodes of muscle weakness associated with documented low potassium levels. It could not be more clear that she has a form of Periodic Paralysis. The following is my response to her post.
Dear Friend, 

I am so sorry that you are now caught in the 'Periodic Paralysis vs Conversion Disorder Dilemma' based on archaic information and inept and arrogant medical professionals.  You are the prime example of what I am continually writing about. The genetic testing done on you was biased and narrow. They only tested for two mutations!!!!!!! The professionals say only about 50% of those tested will have a positive finding because only about 50% of the known genetic mutations have been found. Right now that covers at least five known different mutations, SCN4A, KCNJ18, CACNA1S, KCNJ2, KCNJ5 under which scores of alleles (SNPs) exist and some combinations and interplay of those alleles and mutations on many exons cause Periodic Paralysis. How do they know only 50% or 60% have been found? So many people are told that they do not have PP after such useless testing and are then considered to have 'conversion disorder' that they are not even figured in to the numbers of those who possibly have PP! 

What I believe is, the number of those who are actually diagnosed genetically is much smaller than the overall number of those who actually have a genetic mutation. If you factor in the fact that we do not know how many varying mutations there may be in all of us and those that change with each generation, there is no way to know how many genetic mutations actually exist for Periodic Paralysis. Whole genome testing may be the only way to know or secure a genetic diagnosis if the research is done by someone who willing to look for such rare and unknown mutations.

That being said, I will say it again...."How many diseases or conditions actually exist that can cause intermittent paralysis or muscle weakness based on potassium shifting (even if it is within normal levels)???" Once the tests for those conditions have been completed and those conditions ruled out, then a form of PERIODIC PARALYSIS IS THE MOST LIKELY DIAGNOSIS...NOT MENTAL ILLNESS!!!!! Why does the diagnosis automatically become 'conversion disorder?' Conversion disorder is diagnosed in 1 to 3 in 10,000 and Periodic Paralysis is diagnosed in 1 in 100,000. I cannot help but wonder how many people diagnosed with 'conversion disorder' actually have a form of Periodic Paralysis or anyone of the between 5,000 to 7,000 known rare diseases, also called 'orphan diseases??

I wish I had some way to change the thinking of these doctors, but it seems to be, “I do not know what is wrong and I do not know what to do, so I will call it a mental disorder so I can refer you on to someone else. I do not want to deal with you any longer.”  Instead they should be diagnosing us with Periodic Paralysis based on our symptoms.

Perhaps the following blogs may help you to feel better about yourself and give you some clues on how to find a doctor who does care and wants to help.

Conversion Disorder vs Periodic Paralysis
http://livingwithperiodicparalysis.blogspot.com/2013/12/conversion-disorder-vs-periodic.html

Finding a Doctor Who Cares
http://livingwithperiodicparalysis.blogspot.com/2013/12/finding-doctor-who-cares-december-19.html

http://www.humanillnesses.com/Behavioral-Health-Br-Fe/Conversion-Disorder.html
http://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis
http://en.wikipedia.org/wiki/Rare_disease

Thursday, October 2, 2014

Why haven't they done genetic testing?



Hello All,

Although I have written a few articles about diagnosing, I decided to write one more…

One of our members was going through some medical testing working towards getting a concise and much needed diagnosis for Periodic Paralysis. The test measures nerve conduction and is predictably painful. The results may or may not detect Periodic Paralysis. As she was in tears and only half done with the testing, the doctor feeling sorry for her asked her asked, “Why haven’t they done genetic testing?” He then decided not to complete the test, much to the relief of his patient. Though the doctor had the best of intentions, he did not understand the problem with seeking and receiving a concise diagnosis for one of the several known variants of Periodic Paralysis.
 
This is my response to the doctor:
"Why haven't they done genetic testing??" Really???  Maybe because it does not matter because only 50% of us have a mutation that has been discovered and the testing at best is narrow and biased let alone expensive and virtually non-existent!!  Genetic testing gives no guarantee for receiving a diagnosis.  At this time, diagnosing for Periodic Paralysis must be based on an individual’s symptoms and characteristics, depending on the type they have.
 
According to the American Heart Association, ”The approach to genetic studies of complex traits entails candidate gene or genome-wide association studies. Genome-wide association studies provide an unbiased survey of the effects of common genetic variants (common disease–common variant hypothesis).”

“Based on today’s knowledge, only 1% of the human genome is transcribed into mRNA and translated into proteins. An additional 0.5% serves as a template for noncoding RNA and the regulatory regions that control gene expression.5 The functions of the remaining 98.5% of the genome including functional conserved noncoding elements, which comprise at least 6% of the genome,6 remain unknown. Hence, this large segment of the genome is referred to as the dark matter of the genome.”

This would indicate that genome-wide genetic testing would be the best way to test for the various forms of Periodic Paralysis (PP), but since only 1% of human genome has actually been transcribed, it also indicates why more than half of those tested get negative results. The research labs run testing only for the tests requested by the doctors ordering them. If testing for only one form of Periodic Paralysis is requested, that is all that will be checked.

When genetic testing was being done in Germany and blood was sent overseas for testing for Periodic Paralysis, only the known mutations were searched for and they were either found or not found. There was no research done on what mutations on the same gene in the same exons or locations meant nor did they report those findings on the results if they were found in the denial letter sent to the individual. This is definite “bias” in the testing. One is left to believe there is no reason for their symptoms and to wonder about their own sanity. An individual’s doctors, not understanding the above information, believe that the person does not have Periodic Paralysis. At this point the 'conversion disorder' diagnosis is usually given.

The genetic testing for Periodic Paralysis in Germany has been discontinued since June 30, 2014.  But I know that when it was being done, the testing did not test for every known variant of PP because I have a copy of the letter from them telling me which genetic mutations were tested. I also have a copy of my own whole genome testing which includes ALL of my known genetic mutations.

My genetic mutations indicate that I have a form of Periodic Paralysis, Andersen-Tawil Syndrome; a new, less known form and Paramyotonia Congenita (PMC)/Hyperkalemic Periodic Paralysis which was discovered on an exon not looked at in Germany, but known to be a mutation which was involved in PMC.

Studies indicate that it takes an average of twenty years and is certainly very costly for someone with Periodic Paralysis to get a diagnosis. This is ludicrous and unconscionable. During those years an individual gets worse. They develop exercise intolerance, permanent muscle weakness, heart issues, breathing issues and are harmed from unnecessary medications. Some may even die.  Those twenty years or more consist of seeing doctor after doctor, specialist after specialist; taking test after test, because it is a condition in which a diagnosis is obtained by exclusion, it is diagnosed after everything else is ruled out. Really?? How many diseases do you know that cause a person to have intermittent paralysis??? I only know of one...Periodic Paralysis!!!!!!
 
Besides taking a long time it is very, very costly. I myself did not get a diagnosis until the age of 62. Some of our members in their eighth decade are still trying to get a diagnosis. Many die without a diagnosis, some very early in life, while trying to get a diagnosis. My own great uncle died at the age of 41 during an episode.

So, in conclusion, there is only a 50% chance that if an individual has genetic testing done a genetic mutation will be discovered. T
his chance reduces considerably when the testing done is biased and narrow.  Whole genome testing by the correct and reputable lab may provide some answers but it is not certain that a diagnosis can or will be made. It is very expensive and most doctors will not order it nor will many medical insurance companies pay for it.

Periodic Paralysis needs to be diagnosed clinically, based on an individual’s symptoms and characteristics.


Until later...

Sunday, September 28, 2014

GeneticTesting Should Be For Any Mutation Close To The Relevant Gene


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Hello All,

Today one of our extremely conscientious members, who is always researching about all aspects of Periodic Paralysis and sharing the articles she finds with us, posted an article about DNA and genetic testing. The article, which was thirty-five pages long, was filled with a great deal of technical information. I know a lot great deal about DNA and genetic testing from my own study, but it is always very difficult for me to understand when I do read that kind of article. This article was one of those, but as I was reading along, something jumped off the page to me. The following is my response to the article:

Thank you for sharing this with us. As usual when I read about DNA genetic testing I get confused and lost.  Although I feel I understand quite a bit about it, the articles always seem to be difficult to understand. However, in this article, one thing popped out to me; the following statement:

"For the great majority of diseases there is extensive allelic heterogeneity, and genetic testing requires a search for any mutation anywhere within or near the relevant gene. The biggest current problem in laboratory genetic diagnosis is the lack of any quick, cheap and reliable method for doing this."

This is exactly what I have been trying to say for quite awhile about our testing for Periodic Paralysis....."GENETIC TESTING REQUIRES A SEARCH FOR ANY MUTATION ANYWHERE WITHIN OR NEAR THE RELEVANT GENE"!!!!!!!!!!

That is what has been missing for most of us whether our genetic testing was done in Germany, or from a doctor's orders somewhere else in the world. The testing was and is too narrow, specific and biased; only looking for specific alleles. The mutations “anywhere within or near the relevant gene” are either ignored or overlooked or not even looked for to begin with. That is why so many people got/get a letter saying they do not have a "known" genetic mutation for Periodic Paralysis. This is definite “bias” in the testing. One is left to believe there is no reason for their symptoms and to wonder about their own sanity. An individual’s doctors, not understanding the above information, believe that the person does not have Periodic Paralysis.

But in reality, I was lucky enough to have a chance to see all of my mutations. Some of my mutations were on different, but recognized exons known to cause PP but were not looked at in the German study. They were not even looked for and some were seen but because they were not the exact allele but right next to it, they were ignored and dismissed. No mention of them was included in the testing result letter. A better way to handle it would have been, first to look at ALL of the known mutations/alleles and then in the letter sent with the results, it should have been stated that similar to my sample letter:

"The results to your DNA testing for Periodic Paralysis are as follows. You have the symptoms of Hyperkalemic Periodic Paralysis. We searched for ALL of the KNOWN mutations for ALL forms of Periodic Paralysis. You do not have the exact and known mutations, but you do have mutations on Exon 7 near the ones that cause Hyperkalemic Periodic Paralysis. Therefore it is likely that you (and possibly your family) have a new or original or unique mutation for Hyperkalemic Periodic Paralysis. This will be documented for your family and for others that may have the same mutation. We need to notify your doctors so that you will be treated from this point on as probably having a form Hyperkalemic Periodic Paralysis. You also need to notify your family members and share this letter with them."

Because this has not happened and I do not expect it to see it happening anytime in the near future and because genetic testing is no longer being done in Germany, and all other testing besides whole genome testing is extremely narrow, diagnosing for Periodic Paralysis must be done by doctors based on the symptoms and characteristics of the individual. This should be done once testing for any other condition in which periods of paralysis or muscle weakness have been ruled out.

The article posted:
http://www.ncbi.nlm.nih.gov/books/NBK7586/?report=reader (no longer available)
Three more related articles:

https://www.nature.com/articles/gim200597
"This is because 
most conditions demonstrate extensive allelic heterogeneity, so a search for a mutation anywhere within or near the relevant gene (or locus) is required and not all variants are known or detectable."

https://www.nature.com/articles/gim200597 (Found in: 'Individuals and families')
"A related problem here is that mutation-scanning tests appear not to perform as well as direct gene tests. This is because most conditions demonstrate extensive allelic heterogeneity, so a search for a mutation anywhere within or near the relevant gene (or locus) is required and not all variants are known or detectable."

https://www.ncbi.nlm.nih.gov/books/NBK19932/
"These genetic diseases often exhibit a genetic phenomenon known as allelic heterogeneity, in which multiple mutations within the same gene (i.e., alleles) are found to be associated with the same disease." 



Until later…..

Friday, March 7, 2014

Clinical Diagnosis vs Genetic Diagnosis


Hello All,

I have been very ill again with the effects of metabolic acidosis and low potassium and have been unable to write very much. I apologize for the delay in adding a new blog.

This morning one of our members had a concern and question about the need for a genetic diagnosis. This person has a clinical diagnosis, based on symptoms and characteristics, but was denied access to a genetic testing due to the fact that having a genetic diagnosis would “not change the treatment.” Many comments and replies were added.

After reading all of the comments and then writing my own, which follows, I had a revelation! "What a switch!!!" It is usually the other way around. One must have a clear genetic mutation to be diagnosed, believed and receive treatment. So, this may be the beginning of the medical professionals, insurance companies and more knowing that a clinical diagnosis can be and should be made first and be accepted.

This is what I have been hoping for, working towards and wrote about in my book and on our boards and in this blog!!!!

The following is what I wrote.


”To weigh in here, I was diagnosed clinically with Andersen-Tawil Syndrome (ATS). My genetic testing turned out to be negative. This is because I obviously have a variant that has yet to be found. Forty percent or more of us will not get a genetic diagnosis because our type or form of PP has not been discovered yet. And, if you already have a clinical diagnosis, based on symptoms and characteristics, it can be overturned or attempted to be overturned by uninformed or poorly informed doctors, even Periodic Paralysis specialists. This has happened to members of our group, who later did get a genetic diagnosis as did other family members. Sometimes it is best to leave "well-enough" alone.

That being said, my DNA is now being studied at Baylor through whole genome testing (I just happened to be in the right place at the right time with the right criteria to be accepted into the study.) looking for a new variant of Andersen-Tawil Syndrome. However, it is too late for me really to know if I have a genetic mutation or not. The doctors and specialists tell me there is nothing they can do for me other than what I am doing, but it may be helpful to my children and grandchildren and great-grandchildren to know the exact type, for better and more proper treatment, sooner.

In my daughter's case, she now has a diagnosis and her doctor told her, that there was nothing she can do for her other than what she is already doing. She told her that it is obvious that what she is doing is correct, because there has been great improvement. She wanted to know what she was doing and how she knew what to do. Then my daughter handed her a copy of our book and said, “I have learned everything from my mom!!!”

As far as I can tell and believe, a genetic diagnosis is just "icing on the cake" and can be pursued after a clinical diagnosis has been established. Testing in Germany is free except for the cost of getting the blood there (which can be quite costly), and there is no guarantee of getting a genetic diagnosis. That must be kept in mind if that decision is made. Most testing from a doctor's office is for only a few types so even if the doctor orders it, it may not show up if it is an unusual or unknown variant or if it is ATS and Hypo is what the test is for or hyper and they test for ATS.

Some things to consider, if blood is sent to Germany, you do not need a doctor to order it so that leaves your doctors out of the loop which can be helpful, in case it comes back negative. Also one must be aware of the time involved in testing. Some people wait an average of a year, others a few years. It is not a quick answer or a quick-fix situation.

I waited over a year for my results from Germany and have been waiting for 14 months for the results of my whole genome testing at Baylor.

Do I worry about the results..."no". No matter what the results of the test turns out to be, I must continue to treat my symptoms as I have, naturally, the best I can with the knowledge that I can take no medications and have no surgeries. Because, in my case, great and irreversible damage was done by all the wrong diagnoses and all the medications I was given.

For most of you, you know you have a form of PP. There is no doubt. Discovering your triggers and following a balanced diet that works for you and other natural methods can make a big difference, regardless of the type of PP you have. We are each different and have to treat our symptoms differently based on what we know and what our symptoms are. We learn quickly what makes us worse or better.

The medications of diamox, acetazolamide, diuretics and more only work for a small percentage of us and for some of those people, damage is being done, while they are unaware such as kidney stones, metabolic acidosis, hypokalemia and growth issues.

Getting a clinical diagnosis, based on our symptoms, is the most important thing/step we can take/get. Once it is on paper, we are at least believed for emergency care issues, hospitalizations, possible medications, school issues for children, insurance, validation, vindication, disability and much more.

It is an individual decision to do genetic testing once one has a clinical diagnosis and best made knowing all of the facts.


Until later…

Saturday, December 7, 2013

How Many People in the World Have Periodic Paralysis? December 7, 2013


Hello All,
Someone asked me, not long ago, if I knew how many people worldwide have Periodic Paralysis. I did not have an answer so I had to research it. The following is my best "estimation" based on the information I was able to find.
Orphanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Hypokalemic periodic paralysis as a "rare disease".
(Source – Orphanet)

Prevalence rate of Hypokalemic Periodic Paralysis: approx 1 in 100,000 or 0.00% or 2,720 people in USA [about data]

Prevalence Rate for Hyperkalemic periodic paralysis: approx 1 in 200,000 or 0.00% or 1,360 people in USA [about data]

Prevalence Rate for Andersen-Tawil Syndrome: approx 1 in 60,000,000 or 0.00% or 4 people in USA. Source statistic for calculation: "100 people have been reported with Andersen-Tawil syndrome worldwide, Genetics Home Reference"

According to this, in the United States there are 4,084 people with Periodic Paralysis. I assume documented, genetically confirmed cases.

But this does not account for those of us who are not genetically diagnosed and these numbers only account for the cases in the United States.

There are 7 billion people worldwide, so if I figured correctly:

7,000=Hypokalemic Periodic Paralysis
3,500=Hyperkalemic Periodic Paralysis
   100=Andersen-Tawil Syndrome

10,600=cases of documented, genetically diagnosed people in the world have Periodic Paralysis.

But about 40 to 50% of individuals with Periodic Paralysis have no known genetic mutation, so that number should be about double.

So my best calculation, based on the above information, is that 21,200 people worldwide have Periodic Paralysis!  This estimate is very conservative. However. I am sure it may actually be a much higher incidence due to misdiagnosis.

For instance, just this week, some people in our support group received the results of genetic testing. One woman believed she had Periodic Paralysis. Several of her family members were diagnosed with Fibromyalgia and were content with that diagnosis. Just to humor their relative, they also had genetic testing done. ALL of them turned out to have the same genetic mutation for a form of Periodic Paralysis.
 
This woman had been told two months ago, by the most prominent specialist in the world for Andersen-Tawil Syndrome in Rochester, New York, after traveling at great expense across the country, that she DID NOT have Periodic Paralysis.

Those three individuals would not have figured in the statistics, but now will be counted. This is just the tip of the iceberg!!!!! I believe that the number of individuals with Periodic Paralysis around the world is closer to 50,000 or even more.

It would seem that many people with Periodic Paralysis are misdiagnosed as having Fibromyalgia. At least 10 members of my family are diagnosed with Fibromyalgia. Most of them are in the process of trying to get diagnosed with Periodic Paralysis.


Until Later…