I woke up with the intention of writing about "episodes of paralysis" this morning, but changed my mind after I received a comment on what I wrote yesterday about diagnosing. I actually spent a few hours yesterday writing more about it and then decided to delete most of it and left some sketchy information, not wanting to "rock the boat". This morning, however, I am going to "rock the boat".....
Here is the comment by a very good friend and very active member of our network. I am sure she will not mind me re-posting this:
"Hi Susan, as a member of your network and another individual with unusual symptoms.. (I become weak while well within normal limits on my serum potassium) It was through luck that I was able to get my diagnosis.. I do however believe it is a much larger portion than 40 percent that have as of yet unknown mutations. Thank you for starting your blog Susan to put a more visible face of Periodic Paralysis and Andersen Tawil Syndrome on line.. and hopefully others will free to comment and share or find their way to private conversations about these disorders... "
My reply (wish I could stand on a soapbox):
Hello, Thanks for bringing that up. I agree with you. The number, of people with unknown mutations is much higher than 40% according to our own statistics. However, the medical journal articles have the number at 40%. In the past three years I can count on one hand the number of individuals in our membership who have received an actual genetic diagnosis based on genetic testing done in another country. The number of individuals who have joined us while waiting for the results of testing, or sent in their blood after joining us and have received letters stating that they have "no known mutation" is too many to count. The researchers need to update their journal articles.
As any of our members know, I do not support the push to send our blood to Europe for DNA testing. I believe we need to first obtain a clinical diagnosis (based on symptoms and characteristics, after all else has been ruled out). We need to begin proper and well-rounded treatment as soon as possible. I believe that the expectation of finding a mutation makes doctors reluctant to diagnose clinically, sets everyone’s treatment back and sets everyone up for a huge fall after waiting for a year or more (one family waited for 4 years) for a diagnosis and treatment, when they finally get the news that the majority of us get...."no KNOWN mutation". At that point the support stops from some other groups. We were actually told that they “….do not know how to help nor do they want to and that we “muddy the water for the researchers”. (Not my words). There is no more help and they are left to fend for themselves, even though they are sicker than the people they do offer to support.
These individuals begin to doubt themselves, family doubts them, doctors diagnose them with mental disorders and they begin to look for the "specialists" who are basically non-existent or no help at all if and when they do see them. These individuals grow sicker by the day and become hopeless, depressed and beaten down. How do I know??? I lived through it myself and have members join everyday who have lived it or are now living it. I actually have members from all over the world begging me for help. They tell me that they attempt to contact the larger groups, but after sending in their blood or after receiving their letters, they receive no more correspondence no matter how many times they try, everything becomes quiet. They ask me to write, hoping I may have some influence...in fact I do not. It is at that point that I begin to try to find proper help for them and offer them our support.
It is why we created the Periodic Paralysis Network and wrote our book and why we created our blog. We believe in these people. We know they have some form of Periodic Paralysis. We know they are very ill and suffer greatly, not just from their symptoms, but from the people in their lives who don't get it, including their doctors. We offer support, friendship, education, validation, advocacy, empowerment, and much more but most important we offer them HOPE. The hope that they will get better using natural methods to control some of their symptoms, the hope that they can find a doctor who will work with them using our methods, the hope that we can direct them in ways to get a clinical diagnosis and the hope that people in their lives will learn about and understand this cruel condition by way of our awareness campaign through our book, website, forums and blog.
We need for medical professionals to learn the real facts about Periodic Paralysis and how to diagnosis it clinically (based on symptoms and characteristics, once all else is ruled out). Withholding a diagnosis, misdiagnosing it and mis-treating it with improper medications is what is know as creating illness, more damage or death due to iatrogenesis or iatrogenic effect (preventable harm resulting from medical treatment or advice to patients).
"In the United States an estimated 225,000 deaths per year have iatrogenic causes, with only heart disease and cancer causing more deaths." http://en.wikipedia.org/wiki/Iatrogenesis
Our organization, is now considered a patient advocacy group, because we do everything we can to prevent iatrogenesis of people with Periodic Paralysis by educating our members and hopefully their doctors. We are proud to have been accepted as a member of the Advocate Directory, a group of organizations around the world devoted to safety, quality and support in healthcare. http://www.advocatedirectory.org/component/content/article/27-oregon/1048-periodic-paralysis-network
So, to sum up, yes, I believe there are more than 40% of people with forms of Periodic Paralysis which have an unknown or yet to be discovered genetic mutation. These individuals are usually sicker than many others with PP because they fail get clinically diagnosed and fail to get proper treatment, in fact many are misdiagnosed and mis-treated with improper medications and more ill due to the iatrogenic effect. They suffer needlessly from the rejection of other PP groups, family members, friends, co-workers, and doctors. They can enter a state of learned helplessness, which in turn makes them more ill because stress is one of our largest triggers. This has to stop!! Doctors need to diagnose people with Periodic Paralysis clinically, because well more than 40% of us, the majority of us, have unknown mutations.