Health and Disease informationParalysis

Primary Periodic Paralysis Awareness

(Music) It can happen for minutes, to hours or even last for days. Temporary episodes of severe weakness or paralysis most often in your arms or legs. On today’s Behind the Mystery we’re going to talk about a rare genetic condition called Primary Periodic Paralysis or PPP. So rare in fact that it affects 5 to 6,000 individuals in the US. Here to help us bring awareness about this disease as a neurologist and professor of physiology at UCLA Dr. Steve Cannon, who has done a great deal of medical research on primary periodic paralysis. Also joining us today is Linda Feld patient advocate and Vice-President of the Periodic Paralysis Association. Welcome to both of you! Thank you very much.

Doctor let me start with you, what exactly is PPP, it sounds scary. Yeah well the periodic paralysis are a group of rare inherited disorders that cause temporary episodes of severe muscle weakness or even paralysis and in the most common forms of this condition these episodes are triggered by changes in the potassium level in the blood. So for hypokalemic periodic paralysis the potassium level is low in the blood during an attack whereas in hyperkalemic periodic paralysis the potassium is high during an attack.

Now these patients can have symptoms even between attacks where there’s lingering feeling of fatigue, weakness, and clumsiness so it’s more than just these episodic attacks and there can be variations from patient to patient. So all races are affected, both men and women, the onset is usually late childhood certainly by age 20 and just about any muscle in the body can be affected. So the legs, arms, difficulty standing sitting and unfortunately for some later on in the course of the illness there can be fixed permanent weakness especially of the legs. Doctor, do we know why this happens to people? The problem resides in the muscle itself so there’s nothing wrong with the nerve that’s bringing the information from the brain. This all occurs through electrical signaling that controls the regulation of your heart or tells muscles when to contract.

Which occurs by having salts like sodium or potassium move in and out of the cells and this occurs through microscopic little pores or so-called ion channels and mutations of ion channel genes that causes periodic paralysis. Linda, let me bring you in now to the conversation. I think you went through most of your life undiagnosed which I just can’t imagine how difficult that must have been. So can you share with us what it was like growing up? As a child you’re pretty much in the hands of your parents, your parents are taking care of you you know that maybe you have something wrong because you aren’t as good an athlete as some of the other children in school.

And you weren’t? And I wasn’t. I was always the last one picked for a team. When I reached high school I started to realize that there really was something different and it came to light one day specifically when we had a fire drill in school. And the fire alarm went off and everybody else got up and ran out of the room and I tried to get up out of my chair and I was stuck. I literally couldn’t stand up and I realized wow I’m having one of these quote unquote attacks. By the time class was over the potassium had started to right itself in my body, I was able to make it to the nurse’s office and my parents came and picked me up.

Doctor why is this so difficult to diagnose? The symptoms come and go and so by the time the patient comes to medical attention they might look completely normal to the physician, or from lack of familiarity with the condition. Performing certain tests can help establish a diagnosis of periodic paralysis or rule out other conditions. For example blood tests can look for potassium levels or electrical tests of muscle and now most importantly the availability of genetic testing. It’s important to realize that while finding a mutant gene associated with periodic paralysis is very informative but that if there’s no mutation found it’s still an open question and periodic paralysis remains a possibility. I know that this disease was passed genetically through my family and I have tried tracing this disease back through genealogy and med ical records that I’ve collected as far back as my great-grandfather. My grandmother was mildly affected, my father was in a wheelchair, he actually died of complications due to periodic paralysis.

And that pushed me towards trying to find out more about this disease and help my sister and myself who both have the disease. It kind of solved the puzzles. Yes, solved a big puzzle for me, a big puzzle. Which probably brought some peace of mind as well! It did, it did. Doctor how is this disease treated? Well it’s important for the individual to recognize his or her trigger factors and then work with the medical team to learn how to minimize and avoid those events. In addition to these lifestyle changes, medications are now available to help with an ongoing attack that’s already started or to also prevent and/or reduce the severity of attacks from even coming. And Doctor what triggers this disease? Well most commonly exercise is a trigger. Really? Surprisingly, the episode comes when you stop to rest after exercise but in addition it can be triggered by the amount of potassium in the diet or carbohydrates, fasting or even cool temperatures. Linda how are you today, you look great! I’m doing very well. I think you’re doing great! There there are days when I don’t feel as well as I do on other days but I have really tried to make my life centered around periodic paralysis at this point.

I’m vice-president of the Periodic Paralysis Association and I spend a great deal of my time helping other people who have periodic paralysis try to find the answers to their disease because the Periodic Paralysis Association believes that no one should be alone, that everyone should have an advocate for them within this disease. Raising awareness is very important so that patients don’t have to needlessly put up with these episodes and not be able to get any assistance. It’s also important to raise awareness in the medical community when these individuals come to the emergency room, oftentimes there’s confusion on what the best approach is to manage them. We also think that if we can reduce the frequency and severity of attacks they can avoid some of the later complications of permanent weakness.

The sooner we get to it, the better the outcome. Absolutely. And I must say the future is brighter. Now genetic testing is widely available, advances in understanding the science is giving us clues at new treatment opportunities and finally I’d say that there’s a tremendous growth in the community through social media like the Periodic Paralysis Association which is bringing patients and caregivers together and really creating a sense of community for these patients. Thank you so much for your time, thank you for the information! And Linda thank you for being such an inspiration to others who are watching here today! Thank you, appreciate it. And if you’d like more information about uncovering periodic paralysis, a genetic testing program for primary periodic paralysis offered by StrongBridge Biopharma you can visit uncovering periodic paralysis dot com and for more information about periodic paralysis and resources we’ve discussed today you can visit periodic paralysis dot org or HKPP dot org.

And strong bridge bio dot com. And as always you can find out more on our website the balancing act dot com [Music].

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