Welcome to Periodic Paralysis International!
Our website reflects our mission to make medically accurate, up-to-date information about the periodic paralyses accessible to patients, caretakers and physicians.
Our goal is to help create successful partnerships between physicians, researchers and periodic paralysis patients in order to speed diagnosis and improve therapy and management strategies, thereby improving quality of life and clinical outcomes for patients.
Feb 28th is Rare Disease Day
In a journal article published in October 2012 the average diagnostic delay reported by the 68 patients surveyed was 26 years! From the NORD Blog we bring you an eye-opening post about the incidence of rare diseases. It's estimated that the average family physician sees two-three patients a day with an often unrecognized rare disease! So we ask the question - WHY, in an era of instantly available information, does it take so long to get a diagnosis?
The Solution to Diagnostic Delay May Be Closer Than We Think
by Diane O'Leary, PhD
It can be disheartening for rare disease patients to consider the problem of diagnostic delay. As NORD’s recent informal survey revealed, more than half of us spend three years or more looking for diagnosis and treatment. Once we find it, it’s natural to want to put the whole problem behind us.
The good news is that facing the problem doesn’t have to lead us to hopelessness because there is actually something we can do about it. When we take a hard look, we find reason to be optimistic about what we can do simply by raising awareness.
What Causes the Delay?
For the most part, rare diseases are unfamiliar to doctors. There are almost 7,000 of them, and that’s just too many for any doctor to hold in the working memory bank. How could we ever fix something like that?
There are two ways. First, the information age has produced searchable databases of rare diseases, and FDA-approved devices and apps that doctors can pull from their pockets when they’ve exhausted their diagnostic instincts. The problem of access to information really has been resolved. What remains is the task of bringing doctors to recognize the need to use this information. Read more.
Falls are Dangerous!
Falling is a big problem for many of us. This excellent video from the Myositis Association shows how to prevent falls, how to get up after you've fallen and how to direct someone else to help you when you've fallen.
PPA 2013 Conference videos and presentations are now on-line! Watch them all!
We've wondered for some time if some cases of hypokalemic periodic paralysis were not mitochondrial in origin? Now for the first time researchers have identified a patient with a mitochondrial origin for his hypokalemic paralysis.
Severe Hypokalemic Paralysis as a Manifestation of a Mitochondrial Disorder. Josef Finsterer and Stefan Lässer; Tohoku J. Exp. Med., 2013, 231, 9-12
Mitochondrial disorder (MtD) is usually a multisystem disease due to impaired mitochondrial energy production. Severe hypokalemia resulting in muscle weakness and rhabdomyolysis has not been reported as a phenotypic feature of Mitochondrial Disease. …Mitochondrial disorder (MtD) is most frequently due to impaired energy production by the respiratory chain or the oxidative phosphorylation. The biochemical defect may result from mutations in the mitochondrial DNA or the nuclear DNA. MtD may manifest as a syndromic or non-syndromic disorder, or as a mono-organ or multi-organ disease (Finsterer 2012). Read article
A new study "Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals", authored by Drs. Levitt and Charles of the Periodic Paralysis Association, Dr. Zheng of New-Haven Yale Hospital, New Haven CT, and Drs. Lehmann-Horn and Jurkatt-Rott of Ulm University reveals valuable information about Hyperkalemic PP and PMC. Read it in full; courtesy of the Periodic Paralysis Association:
We've added a new Hospitalization Information Sheet for HypoKPP patients en Espanol. It's in Open Document Format so download with your word processing program.
NORD has released a state-by-state map and list of insurance resources. Invaluable information!
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients, was published in the October 2012 issue of Acta Myologica. Co-authors were Periodic Paralysis International Director Deborah Cavel-Greant and Drs. Frank Lehmann-Horn and Karin Jurkatt-Rott. This survey identified aspects of PMW which had never been documented before. Thanks to all the patients who participated in the survey.