Serene Forest

Wednesday, March 18, 2015

How To Get A Periodic Paralysis Diagnosis: “Hit Them Between The Eyes With The Facts”

How To Get A Periodic Paralysis Diagnosis: “Hit Them Between The Eyes With The Facts”

I realized last night that I have not written a blog on this very important subject. Getting a diagnosis is one of the most discussed subjects on our PPNI Support, Education and Advocacy Group. I have written many articles about the diagnosis and the many and complicated issues related to it, but I have neglected to write one with the actual plan or steps one can follow. I have however, written two books in which I cover this subject at length. They are "Living With Periodic Paralysis: The Mystery Unraveled"  and "The Periodic Paralysis Guide And Workbook: Be The Best You Can Be Naturally." In fact the second book was, in part, actually created to be used as a tool to aid in getting a diagnosis.(added 2/3/2017....I have now written four books)

Written in the “Introduction” of the front matter of the book is the following, which includes the “plan” for seeking and obtaining a diagnosis:

”It is a user-friendly guide, a set of plans, instructions and ideas for aiding individuals with all forms of Periodic Paralysis, to better manage their symptoms in natural and common sense methods. It is a workbook with a set of tools such as charts, forms and even a medical journal, with clear instructions for completing and using them. Each is designed to be individualized and may be utilized for the various plans or sections of the book. The charts and forms may be scanned and used separately or the pages may simply be completed in the book itself for keeping all medical information in one place. Easily transportable, this book is also a handbook and can accompany each visit to doctor appointments, the ER or the hospital. This guide may stand-alone or may be used in conjunction with the first book about Periodic Paralysis, living with Periodic Paralysis: The Mystery Unraveled. This guide, workbook and handbook is designed to assist individuals with all forms of Periodic Paralysis to ‘be the best they can be naturally.’”

This is the Outline for the Plan:
(From the book)

Getting a Clinical Diagnosis
The Plan

Process of elimination
Gather the facts
Lab work
Periods of paralysis, documented
Oximeter recordings
Genetic testing?
Previous medical records
Chart the triggers
Document potassium use
Gather and chart family information


There are two methods used for diagnosis of the various types of Periodic Paralysis; one is through a genetic test, which studies one's DNA. If a mutation is found the person receives a "genetic" diagnosis. If a person is diagnosed based on their symptoms, once all else has been ruled out, it is called a "clinical" diagnosis. Too many doctors will not give a clinical diagnosis once everything else has been ruled out and are eager to diagnose a person, especially women, with a mental disorder such as "conversion disorder" and then prescribe a psychotropic medication which makes the symptoms worse or can actually kill someone with certain forms of PP.

truth about the genetic mutations for Periodic Paralysis and Andersen-Tawil Syndrome:

More than 40% of all individuals with Periodic Paralysis have a form, which has not yet been discovered and must therefore, be diagnosed clinically, based on symptoms and characteristics.

The other issue is that up to 50% of those with PP have potassium shifting in normal ranges, rather than low or high, which causes their symptoms. Without a test proving low or high potassium, some uniformed doctors refuse to diagnose although everything else is ruled out and there are clearly periods of muscle weakness and/or paralysis.

It is my belief that too much emphasis is placed upon the genetic testing, because only about one half us will have a genetic mutation if we are tested genetically. Diagnosis needs to be based on symptoms and characteristic once all else is ruled out.

Getting a clinical diagnosis, based on our symptoms, is the most important step we can take. 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.

The Plan

Before I had a diagnosis and I was very ill, Calvin was beside himself with worry because of the severe paralytic episodes I was experiencing four and five times a day and every night. I was having difficulty breathing during them. He met with a technician for medical equipment when we were trying to get oxygen and he told her the story. She told him the best way to get the help we needed and a diagnosis was to, “Hit them (doctors) between the eyes with the facts.” That is just what we did!! Based on that idea I have created the plan for others to use to gain a diagnosis. It is presented in an outline format to make it easy to follow and to use as a checklist.

You must gather all of the facts:
Ø       It is important for everything else to be ruled out. Your PCP and a neurologist do these, because most of the symptoms resemble neuromuscular disorders. The tests ruling everything else out might include but are not limited to:
§         Lab work of all types,
·         Blood
·         Urine
§         MRI's,
·         Brain
·         Spine
§         Spinal taps,
§         X-rays
§         EEGs
§         EMGs
§         EKGs
§         CMAPs
§         Muscle biopsy
(Some of the tests above may show changes that can be markers for PP).
v      Most doctors diagnosing PP want lab work showing either:
Ø       Paralysis during shifting in normal ranges
Ø       Paralysis during shifting in low potassium and/or,
Ø       Paralysis during shifting high potassium
§         This is done by obtaining serum potassium levels
·         May need to be done several times until a baseline is established
·         Then during episodes every 5 to 10 minutes...not just one blood draw...there is no way to see the shifting otherwise.
·         It may be necessary for hospitalization in order to do this while in the paralysis.
·         May need to be done for more than 24 hours until each is documented, during the episodes.
·         If the shifting is in the normal ranges, it may never show up during tests, unless it is done every few minutes.
¨        50% of PP patients may not have potassium shifting out of normal ranges
¨       ATS patients may shift all three ways.
Ø       However, the latest information for diagnosing PP based on potassium levels in blood serum is as follows:
§         The potassium in the blood does not always shift above or below normal ranges in 50% of patients experiencing muscle weakness or paralysis or it shifts so quickly that it cannot be measured. Doctors need to diagnose a patient with Periodic Paralysis based on the patient’s symptoms, specifically, heart symptoms on an EKG and the muscle strength or weakness and history of episodes of paralysis.
Ø       *** The information above needs to be shared with your doctors. Most do not understand these concepts. ***
v      There needs to be periods of paralysis, either total or partial, which can be documented (or progressive, gradual, fixed muscle weakness, all other things ruled out).
Ø       Videotaping is the best way to do this.
Ø       It may be necessary for hospitalization in order for doctors to see an individual while in the paralysis.

Under no circumstances should an individual provoke his or her symptoms or an episode of paralysis by omitting medication or ingesting foods or perform activities, which are known triggers. This is a very serious thing to do and can lead to death. Please read Chapter Twenty-Nine for more information on this subject.

v      ECGs or EKGs consistent with "ion channelopathy", Periodic Paralysis or Andersen Tawil Syndrome. For specifics see Heart Issues in Chapter Nineteen.
Ø       Needs to be done while in the paralysis so it may need to be done for more than 24 hours until each is documented, during the episodes.
§         Holter Heart Monitors are the best method.
v      Oximeter (oxygen) recordings
Ø       Indicating, levels dropping during paralysis.
Ø       If in an advanced case of PP, it may show hypoventilation.
v      Genetic testing is available
Ø       Not necessary, but helpful for treatment and prognosis
Ø       See below for Specifics for Genetic Diagnosing of PP
§         30% of all people with PP do not have identified mutations.
Ø       See below for Specifics for Genetic Diagnosing of ATS
§         30% - 40 % of all people with ATS do not have identified mutations.
v      Gather all previous medical records.
Ø       Be sure to ask for all doctors' records from each appointment you attend.
Ø       Get all lab records, x-rays, hospitalizations, etc.
v      Chart the triggers for the episodes.
Ø       See “Triggers” in Chapter Seventeen and “Discovering Your Triggers” in Chapter Twenty-Two”
Ø       Documenting an increase of episodes after eating carbohydrates or red meat, after exercising or after taking certain medications is important for being able to control the episodes and letting the doctor see what the triggers are for a diagnosis.
v      Documenting a reduction of episodes when using potassium is good. This can indicate the loss of potassium after shifting and may indicate low potassium levels.
v      Gather a team of doctors. (Knowledgeable about PP or willing to learn)
Ø       PCP
Ø       Neurologist
Ø       Electrocardiologist
Ø       Nephrologist
Ø       Endocrinologist
Ø       Counselor or therapist
Ø       Others as needed for symptoms
Ø       MDA doctors if possible
v      Gather as much medical information as possible from family members who may have symptoms similar to Periodic Paralysis. It has a hereditary component.
Ø       If one suspects Andersen-Tawil Syndrome, gather as much medical information as possible from family members and note the characteristics/symptoms. Create a family flowchart with this information. Adding pictures can be helpful in demonstrating the characteristics.

Each of the steps outlined above is further discussed and explained in detail in the books.

The bottom line is that the best way to get a diagnosis is to get as much information together as possible to prove your case. Video tape the episodes, keep a journal, put together a notebook with all of the testing results. Include ER visit reports, hospital records, doctors notes, records of your vitals, and more depending on your symptoms and your particular case. Both books have charts, forms and more to use for this purpose, including all the instructions.

Once you have all of the information together, you can:

On Amazon:

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