I had a very busy and successful day yesterday completing this blog site, and working on other issues and improvements related to the Periodic Paralysis Network. I do all of my work from my recliner in a reclining position and am hooked up to oxygen, because any kind of exertion, including sitting up straight in a chair or talking on the telephone for more than a few minutes, causes me to have symptoms related to exercise intolerance and the possibility of full-body paralysis. So when I talk about being busy, I mean typing (writing 2 new books); researching; answering questions; helping members as needed; reading; phone calling; analyzing survey data; translating; making sure all websites, pages, groups, boards, pinterest, our survey etc, are all up and running appropriately; seeking fundraising, marketing and awareness methods, and more. Though I am supposed to avoid stress and exertion because of the possibility of triggering an episode of paralysis and because I had a TIA about 2 months ago, my self-imposed daily schedule gives me both...without being aware of it. So last evening, I went into a partial paralytic episode. I suddenly could not speak and was very weak. My blood pressure, which is normally 90/60 was at 131/60 and then a few minutes later was 88/48. My symptoms indicated a fluctuation of potassium between high and low potassium or an issue with my heart and I was unable to drink or swallow anyway, so I did not use my potassium reader nor did I take any potassium. With ATS, I can swing both ways...so taking potassium for me can actually make me worse. I went to bed and was in and out of paralysis through the night as always. I am now up and ready to begin anew, but will try to rest a little more today.
Yesterday and this morning there was discussion in our support group and one of our pages about getting a diagnosis. One group member was eager to share her newly acquired genetic diagnosis with us. It was a very long time coming as she is a mother with several children and has suffered the effects of PP for many years now. Another discussion was from a different point of view. A woman who has suffered many long years and has been unable to work for quite awhile, wrote about the horrible treatment she endured in the hospital a few weeks ago due to uninformed doctors. They labeled her with a mental disorder and she was sent home with no diagnosis or proper treatment. The difference you ask????? One had a genetic test, which showed a mutation for a form of Hypokalemic Periodic Paralysis and the other person's test came back negative for any of the KNOWN genetic mutations.
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.
The truth about the genetic mutations for Periodic Paralysis and Andersen-Tawil Syndrome:
About 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.
The members of our support group are mixed. Many do not have a diagnosis yet and are seeking one. Some, have a clinical diagnosis and some have a genetic diagnosis. We all have mixed feelings for ourselves, and others with a diagnosis: one of relief that we finally have it but one of sadness that we truly are diagnosed. We are supportive of each other, regardless. We share ideas of how to get a diagnosis and how to treat our symptoms naturally for those who cannot get the proper medications due to a lack of a diagnosis or those who cannot take medications
At this time we are working on creating criteria for better clinical diagnosing.