Serene Forest

Monday, October 27, 2014

300 Members!!!

Congratulations to us all at the PPN Support, Education and Advocacy Group!!! We now have over 300 members!!!!!!!! Thank you all for your support!!!

Our PPN Forum:

Please check out our PPN Members World Map:
The following are the services and features of our PPN forum:
PPN Support, Education and Advocacy Group:
PPN Website:
PPN Book: "Living With Periodic Paralysis: The Mystery Unraveled"
(Found on our website)
PPN Blog:
PPN Book Discussion Group:
PPN Genealogy-Genetic Discussion Group:
PPN Website Facebook Page:
PPN Author's Page:

Tuesday, October 21, 2014

Periodic Paralysis Awareness GoFundMe

Hello All, 
We, at the Periodic Paralysis Network, Inc, would like to share our Periodic Paralysis Awareness Project. This is 'Invisible Disease Awareness Week' the perfect time to launch our fundraiser. Even if you cannot donate, please read about Periodic Paralysis and share this link with others. We need to share the facts and bring awareness to the world about this rare condition. Thank you.

Until later...

Friday, October 17, 2014

"This is Not an Acceptable Way to Make a Diagnosis" Guest Blogger

Hello All,

In response to a post from one of our PPNI Support Group members about the ever controversial 'Conversion Disorder Dilema' another member,our guest writer Maureen McCutcheon, wrote the following:

These doctors know, but hope we don't know, that the number one criteria for diagnosing 'all in the head' (conversion, somatoform, functional neurological disorder, hysteria), is that ALL other possible diagnosis must be RULED OUT. They have to know that they are being lazy and unprofessional AT BEST! They just hope we'll accept their 'god-plex' label that they can get away with writing as the diagnosis into record. It seems that they don't think about or care about the ramifications for the patient. We are seeing them when we are our most vulnerable and unprepared and despite our many previous negative experiences,  we don't have some 'canned' responses of our own to these kind of comments (that he charged and got paid for). I feel a *rant* coming on that I wish I'd have the presence of mind to say to a provider at the time they say or do something like this: “Doctor, my presence here means I'm hiring this hospital and you for services. What you are doing is at best woefully inadequate, if not willfully inept. I want to see the ER director or highest person in charge of ER at this time (trauma nurse coordinator/supervisor or ??). I didn't come her to be treated in this disdainful, arrogant, dismissive way. There's a lot more ways I could spend my time and dime and I’m not here to waste your time or misuse medical resources. If you cared and meant your oath you took as a doctor, let alone the expectation this hospital /facility/ has from staff to implement Patients Rights to be treated with dignity and respect, then you wouldn't be doing this. What you are doing is not something you would want to be treated like or any of your loved ones. HOW WOULD YOU BE FEELING AND RESPONDING in my place if The doctor was treating you or loved one like you are treating me? By telling me that this is 'all in my head' you are revealing enough to me about you to know that I am NOT choosing to hire you as my doctor. You have revealed that you have a pre-c
onceived bias filter through which you perceive me. This is NOT acceptable…. NOT an acceptable way to make a 'diagnosis'.

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

Finding a Doctor Who Cares

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...