Welcome to Periodic Paralysis International!
Serving the Periodic Paralysis Community for 20 Years!
"To give real service, you must add something which cannot be bought or measured with money, and that is sincerity and integrity." -Douglas Adams
We are mission-driven, independent and not-for-profit. 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.
Frank Lehmann-Horn 1948-2018
It is with deepest sorrow that we learned of the passing of Dr. Frank Lehmann-Horn, Tuesday May 8. Frank did so much for periodic paralysis and patients like us. He promoted genetic testing, offered it for free to many of us, and discovered mutations in many of us thereby validating our diagnosis and allowing us to optimize our therapy. He coached many of us in our treatments. He pioneered diagnostic methods, like sodium MRI and new treatments, like eplerenone. He published prolifically, literally writing entire textbook chapters on periodic paralysis and related disorders. He mentored generations of researchers and clinicians. Most important, he was loving and kind, a fervent supporter of both the PPI and the PPA and of the patients suffering with these diseases. For those of us who had the privilege of working closely with him, he was a kind and supportive colleague. He will never be replaced, never be forgotten, and will always be missed.
The most meaningful award Frank received in his lifetime was the Art of Listening Award. He valued that award more than all his professional awards because it was from the patients he loved. You can watch the award ceremony on YouTube at https://www.youtube.com/watch?v=Uv0eRev9nZk
3 April 2018: The journal "Neurology Advisor" has today published "Primary Periodic Paralysis: A Physician's Personal Experience as a Patient" by Dr. Annabelle Baughan, the 1st in a series on the challenges faced by patients with Periodic Paralysis in obtaining a diagnosis and care.
PPA Conference in Dublin Ireland August 17-19 2018
For both patients and physicians in Britain and Europe, just a reminder that the Periodic Paralysis Association is holding its first ever International Conference in Dublin, Ireland from August 17-19. If you've never been able to attend a US Conference, or even if you have, this is an opportunity not to be missed! This is a chance to meet fellow patients face-to-face - and share your experiences, which is *life-changing*, and to hear presentations from some of the top researchers and clinicians in the field today. For more information and to register on-line visit the PPA site today.
Have you been able to access DNA testing?
"Uncovering Periodic Paralysis" is a no-cost genetic testing program offered by Strongbridge Biopharma for those who qualify. Although genetic testing can confirm a suspected diagnosis, the absence of a genetic mutation does not rule out diagnosis of the disease. The Periodic Paralysis Panel includes testing of the three genes that are most commonly-associated with periodic paralysis: SCN4A, CACNA1S, and KCNJ2.
“There is a growing awareness of periodic paralysis and access to tests such as this may help shorten the diagnostic journey for patients,” said Steve Cannon M.D., PhD, neurologist and professor of Physiology at UCLA. “Access to more reliable genetic testing will empower medical professionals with the right information to facilitate improved clinical management of the disease.”
To qualify for the program individuals must:
- Be at least 18 years old
- Have experienced more than one occurrence of episodic muscle weakness/paralysis attacks, or episodic pain after attacks
- Episodes provoked by at least one of the common triggers for hyperkalemic or hypokalemic periodic paralysis, e.g. potassium, carbohydrates, rest after exercise, cold exposure, or stress.
- Have your physician complete the application form here: Invitae | Uncovering Periodic Paralysis
- For more information about the program, please visit "Uncovering Periodic Paralysis":
For Physicians - A New Guide from the National Institutes of Health
Caring for Your Patient with a Rare Disease - A New Guide for Healthcare Professionals
As a family physician, pediatrician, or other primary healthcare professional you are on the front lines of patient care. Our newest guide, Caring for Your Patient with a Rare Disease, shares ways you can support your patients, even if they're the first person with the rare condition you've ever treated. Your long-term, trusting, and supportive therapeutic relationship can make the rare disease journey of your patient a bit easier. Learn where to find quality information on rare diseases and how GARD can support you.
Have a teen with periodic paralysis in transition to adulthood?
Here's an excellent resource offering guidance: Taking Control; Gaining Independence as an Adult with a Rare Disease.
Some Further Excellent Patient Resources Found at https://engagedpatients.org
These require that you register (it's free) but believe me it's worth it if only for these these free resources (there are more!):
- The Empowered Patient Hospital Guide for Patients and Families:
- The Empowered Patient Journal:
- My Health Notebook from Johns Hopkins:
Keveyis now Available Through Strongbridge Biopharma
Strongbridge Biopharma, a company which specializes in medications for rare diseases is now providing Keveyis (dichlorphenamide) to patients with periodic paralysis. Patients are provided one-on-one support through StrongbridgeTM CareConnection. Strongbridge is committed to making Keveyis available to all patients who need it. For more information on Keveyis and for some valuable forms and tips visit the Keveyis.com website.
Anaesthesia and Periodic Paralysis
April 12, 2016: Adverse reactions to anaesthesia, including life-threatening events, are a serious concern for patients with Periodic Paralysis Disorders. Many of our patients report serious events associated with anaesthesia and side effects which may linger for days to months. There is rarely time for a surgical team to comb through journals and texts for the specialized knowledge needed to care for the patient with periodic paralysis. Malignant Hyperthermia is also a risk, especially for patients with sodium channel mutations.
In order to make this information easier to find retired Haemato-oncologist and ATS patient Dr. Annabelle Baughan, PPI Director Deb Cavel-Greant, HKPP Listserv member Jan Magalo, and Neurologist Dr. Frank Weber have prepared both a Literature Review and a set of Practical Guidelines physicians may consult when caring for a patient with one of the Periodic Paralyses. A new tab has been added to the menu bar at the top of the page to make these articles immediately available when needed. Check them out.
Check out a video about Malignant Hyperthermia here: What I wish Everyone Knew about Malignant Hyperthermia
There's a new and excellent article about Andersen-Tawil Syndrome from NORD, the National Organization for Rare Disorders.
Andersen-Tawil syndrome is a rare genetic disorder characterized by episodes of muscle weakness and paralysis (periodic paralysis); abnormalities affecting the electrical system of the heart that can cause abnormal heart rhythms (arrhythmias); and a variety of distinctive facial and skeletal features. The specific symptoms and severity can vary greatly from one person to another, even among members of the same family. Some individuals will not develop all of the characteristic findings. Distinctive facial features may be so mild as to go unnoticed. In some cases, Andersen-Tawil syndrome is caused by mutations in the KCNJ2 gene; in other cases, the associated gene is unknown. The KCNJ2 gene mutation can occur randomly for unknown reasons (sporadically) or be inherited in an autosomal dominant manner.
Study expands database for reference values for the Long Exercise Test (CMAP) Ding Z, Liu M, Cui L. Reference value of long-time exercise test in the diagnosis of primary periodic paralysis. Chin Med J (Engl). 2014;127(18):3219-23.
The Empowered Patient
Trying to 'change the culture of medicine' by letting patients decide what gets researched; Patients can bring attention to issues they face that may not previously have been studied. A new approach to medical research in Canada lets patients help decide what gets studied, and how. No longer are scientists toiling away in labs in isolation. Patients and their family members or caregivers are increasingly involved behind the scenes, working alongside researchers, doctors and decision-makers at all stages of the research process. "Fairness and justice would say these people have got the disease … surely they should have a bit of a say," says Dr. Andreas Laupacis of Toronto's St. Michael's Hospital. As a health researcher at the Li Ka Shing Knowledge Institute, he's advocated that patients should be more involved in setting research priorities.
How many times have you needed, and not had, test results, or medical history you didn't have? It's Time to redesign medical data:
One of the most vital aspects of staying healthy when you have periodic paralysis is becoming an informed and empowered patient. When Dave deBronkart learned he had a rare and terminal cancer, he turned to a group of fellow patients online — and found the medical treatment that saved his life. Now he calls on all patients to talk with one another, know their own health data, and make health care better one e-Patient at a time.
Featured Reading from members of our Medical Advisory Board:
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals: Charles G; Zheng C; Lehmann-Horn F; Jurkat-Rott F; Levitt J: Neurol. 2013 Oct; 260(10):2606-13.
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. Cavel-Greant D; Lehmann-Horn, F; Jurkatt-Rott, K; Acta Myologica; v.31(2); 2012 Oct
Measuring quality of life impairment in skeletal muscle channelopathies. Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; Eur J Neurol. 2012 May 19. 1468-1331
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Information in Danish: Nyhed- Information på dansk
Information in Spanish: Ahora la información en Español: Parálisis Periódicas
Tambien Directrices de hospitalización para la parálisis periódica hipopotasémica en Español:
Information in Dutch: Nu hebben we informatie in het Nederlands! Overzicht van de periodieke verlamt in het Nederlands
So much information - How do I know if it's correct or not? From the Genetic Alliance, 3 questions help decide: Do I Trust it or Trash it?
How to Prevent Falls. 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.
Management Information:
FAQ's for Starting Acetazolamide (Diamox)
New: A Quick Overview of Hypokalemic Periodic Paralysis
Potassium (K+) Supplements Commonly Prescribed for HypoKPP
Counting milligrams of sodium, potassium, fat or carbs? Here's a handy resource
Is your medication in shortage? Check the FDA List.
Sleep apnea is a sleep disorder characterized by abnormal pauses in breathing or instances of shallow breathing during sleep. Each pause in breathing, called an apnea, can last from a few seconds to minutes, and may occur 5 to 30 times or more an hour. Similarly, each shallow breathing event is called a hypopnea. Sleep apnea is diagnosed with an overnight sleep test called a polysomnogram, or "sleep study". From reports of Listserv members it appears patients with periodic paralysis may be at higher risk of sleep apnea than average. If you have been diagnosed with sleep apnea, or suspect you have sleep apnea, Apnea Board.com is the place to find reliable information.
Contact us: ppi_president@shaw.ca
