My genetic change is SCN4A. I already thought I had Parkinson's, due to the stiffness I feel, and the resulting pain, fatigue and decreased mobility. It's not an occasional thing, it's daily, it's part of me all the time. With difficulties, I managed to maintain my life as close to "normal" until I was 35 years old. Today, at 40, I spend 95% of my time at home, that is, I go out once or twice a week for something essential that doesn't last long. I had to adapt my life, and I struggle to maintain myself because I'm on my own. I'm lucky to have a strong/combative spirit and different intellectual interests. I notice muscle swelling, but not every day. When I walk a little more or need to do a somewhat repetitive movement, I get bursitis. I have partially torn ligaments in my feet and knees (magnetic resonance imaging), probably due to the disease. I have had degenerative changes in my spine and hips for twelve years. Throughout the day or with the use of my vision, my vision becomes tired/blurred (and I have always had a convergent deviation in one of my eyes, treated with a degree). The voice is always low, it makes talking and breathing tired. Taking a shower causes my O2 saturation to drop to such a point, due to exhaustion, that I lie down afterwards and need O2 support for a few minutes. I often turn purple (head, lips, feet, hands), as if I have hypoxia. Choking, some motor imbalance, difficulty in maintaining an upright posture, frequent sore throat, cramps, paresthesias, and other symptoms. I took carbamazepine, lamotrigine, pregabalin, ranolazine... and the worst of all: acetazolamide. The acetazolamide left me feeling stone and I couldn't get out of bed or turn around. Why did I feel so bad on acetazolamide? I am not overweight and the only comorbidity that I know of is Hashimoto's (without any change in rates) and nuclear ANA/FAN 1/640 with a reactive chromosomal plate with a dense fine dotted pattern. Nothing found in rheumatological laboratory tests. Electroneuromyography with abundant and diffuse myotonic discharges with elongated trains in all muscles studied. In a prolonged electroneuromyographic test, there was no decrease in discharges at any time. I would like to do a muscle biopsy, but it is an expensive procedure. I leave my story, in case one day someone identifies.
I realized my spasticity in one leg is a result of the first time I became temporarily paralyzed. What has surgery on that leg recently is a doctor who mentioned that he never seen such a tight leg before the muscles. They do hurt most of the time I have to massage it with the knee of my other leg often at night. But I never had this problem until the first time it happened. That said I had two bad bouts of this the hero is diagnosed with hypochloria hypokalemia. I'm sorry computers typing. It took me months to regain the muscle strength and my arms and my legs. I don't think they're 100 percent to where they were before. But all I could do is walk a little bit one house two houses then down to the corner. Just kept pushing. I could walk around this park we have it's one mile. Politic nearly three years to get to that point. Moral of the story is get up and keep moving as soon as you can and keep those muscles moving the best you can. Even if it means you're sitting up in a chair and rolling your feet back on a couple of cans at home. Fancy equipment to do this. I would get two 16 ounce water bottles and take the wispy. That was one and two. Rates to walk was. I would alternate with one bottle first then two as I could gain strength. Then I got some two pound weights for my arms. I still use that weight to roll back and forth underneath my feet when I'm sitting on a computer. It helps a lot. But I was a dancer in my use so some of the muscles stretching exercises I learned from them I still use. Kinda like a form of pilates. Stretching my toes like a ballerina point toe does. A lot stretching and moving and rotating my feet a lot helped immensely.
Thank you so much for sharing your experiences and story. PMC is a big concern for so many in the community (I know I worry about it), so very glad you were able to make a recovery after everything you went through.
Yeah I thought for awhile that I might have permanent mucle loss. I was in a lot of pain, and had abortive episodes everyday. Turns out my thyroid was still out of wack (I also have hashimotos/hypothyroid disease) and that caused a lot of problems for me. So either eating the wrong foods OR not enough foods would put me in an episode. With mental health therapy, work on my daily routine and meal routine, I was able to end the daily episodes. Oh and thyroid meds. Very important for me.
That is wonderful that you have been able to manage your symptoms and regain strength back. So it sounds like your PP is secondary and caused by your hashimotos/hypothyroid disease. Is that the case?
@@PeriodicParalysisAssociation it was what brought us to the diagnosis but at this point we arent sure if it was thyroid induced. It is possible. But I have no way have further studying with MD care here in AK. So, maybe?
PMW do exist in pp patients and comes as you age. In our younger days we are more agile. When we grow old proximal muscle weakness i sets in and strength of our muscles comes down. As Doctor told life style modification, avoiding triggers and preventive medication may help to some extent.
Just watched the video regarding permanent muscle weakness. Must profoundly disagree with Dr Cannon. Yes, bouts of total paralysis do destroy the muscle, but when the paralysis stops, the muscle continues to waste away. It is a slow process, but looked at over a time period of a few years, the deterioration in the muscle becomes very marked, and the muscle continues to deteriorate, no matter what excercise is taken. I have had only one bad attack of paralysis in the past 10 years, but have gone from walking with one elbow crutch to putting my whole weight on two crutches as my back muscle has almost completely gone. Been on Diamox for 50 years and now take it in conjunction with Furosemide to reduce the amount of water in the muscle fibre. Not that that seems to make any diffeence.
Dr Canon refers to optimising muscle function as much as possible. How does he recommend to do this ? Is starting medication eg acetazolamide at a younger age as opposed to ongoing high level potassium supplementation (plus healthy lifestyle) more effective?
Medication at a younger age is always helpful. also, making sure you are on the right medication and dosage. Every patient has different needs at different ages.
Ken, great question. Please visit our "Ask an Expert" on our website to ask about medical advice. I have attached the link. periodicparalysis.org/ask-the-experts-disclaimer/ Thank you
By minimizing attacks. He says this in the video but I can personally say this my first attack and then my second attack within a few months of each other where I had to be taken out by paramedics and by the time I got to the emergency room the second time I was not able to walk. Let alone talk. So I work really hard to try and not let my muscles get that bad. What I have to do is not just take the potassium find it in other food sources because overtime the medicine is hard on my stomach. Put one of the things I'm going to have to do is drink far more water create a bake flash help get up in the morning and I drink two 8 ounces of cups of water. That was hard to get used to doing. I have to try and time when I'm going to pee depending on what I'm doing. But once I'm stop moving if I've been moving around my muscles don't like me. One problem with my right legs that recently was injured i've had to have surgery. It took awhile to heal but the muscles that don't get really stiff I don't know if that's a form of muscle damage to the doctors I've said follow your muscles are really tight. But I think it's from the low potassium.
My genetic change is SCN4A. I already thought I had Parkinson's, due to the stiffness I feel, and the resulting pain, fatigue and decreased mobility. It's not an occasional thing, it's daily, it's part of me all the time. With difficulties, I managed to maintain my life as close to "normal" until I was 35 years old. Today, at 40, I spend 95% of my time at home, that is, I go out once or twice a week for something essential that doesn't last long. I had to adapt my life, and I struggle to maintain myself because I'm on my own. I'm lucky to have a strong/combative spirit and different intellectual interests. I notice muscle swelling, but not every day. When I walk a little more or need to do a somewhat repetitive movement, I get bursitis. I have partially torn ligaments in my feet and knees (magnetic resonance imaging), probably due to the disease. I have had degenerative changes in my spine and hips for twelve years. Throughout the day or with the use of my vision, my vision becomes tired/blurred (and I have always had a convergent deviation in one of my eyes, treated with a degree). The voice is always low, it makes talking and breathing tired. Taking a shower causes my O2 saturation to drop to such a point, due to exhaustion, that I lie down afterwards and need O2 support for a few minutes. I often turn purple (head, lips, feet, hands), as if I have hypoxia. Choking, some motor imbalance, difficulty in maintaining an upright posture, frequent sore throat, cramps, paresthesias, and other symptoms. I took carbamazepine, lamotrigine, pregabalin, ranolazine... and the worst of all: acetazolamide. The acetazolamide left me feeling stone and I couldn't get out of bed or turn around. Why did I feel so bad on acetazolamide? I am not overweight and the only comorbidity that I know of is Hashimoto's (without any change in rates) and nuclear ANA/FAN 1/640 with a reactive chromosomal plate with a dense fine dotted pattern. Nothing found in rheumatological laboratory tests. Electroneuromyography with abundant and diffuse myotonic discharges with elongated trains in all muscles studied. In a prolonged electroneuromyographic test, there was no decrease in discharges at any time. I would like to do a muscle biopsy, but it is an expensive procedure. I leave my story, in case one day someone identifies.
Lisa, thank you for sharing.
I realized my spasticity in one leg is a result of the first time I became temporarily paralyzed. What has surgery on that leg recently is a doctor who mentioned that he never seen such a tight leg before the muscles. They do hurt most of the time I have to massage it with the knee of my other leg often at night. But I never had this problem until the first time it happened. That said I had two bad bouts of this the hero is diagnosed with hypochloria hypokalemia. I'm sorry computers typing. It took me months to regain the muscle strength and my arms and my legs. I don't think they're 100 percent to where they were before. But all I could do is walk a little bit one house two houses then down to the corner. Just kept pushing. I could walk around this park we have it's one mile. Politic nearly three years to get to that point. Moral of the story is get up and keep moving as soon as you can and keep those muscles moving the best you can. Even if it means you're sitting up in a chair and rolling your feet back on a couple of cans at home. Fancy equipment to do this. I would get two 16 ounce water bottles and take the wispy. That was one and two. Rates to walk was. I would alternate with one bottle first then two as I could gain strength. Then I got some two pound weights for my arms. I still use that weight to roll back and forth underneath my feet when I'm sitting on a computer. It helps a lot. But I was a dancer in my use so some of the muscles stretching exercises I learned from them I still use. Kinda like a form of pilates. Stretching my toes like a ballerina point toe does. A lot stretching and moving and rotating my feet a lot helped immensely.
Thank you so much for sharing your experiences and story. PMC is a big concern for so many in the community (I know I worry about it), so very glad you were able to make a recovery after everything you went through.
Yeah I thought for awhile that I might have permanent mucle loss. I was in a lot of pain, and had abortive episodes everyday. Turns out my thyroid was still out of wack (I also have hashimotos/hypothyroid disease) and that caused a lot of problems for me. So either eating the wrong foods OR not enough foods would put me in an episode. With mental health therapy, work on my daily routine and meal routine, I was able to end the daily episodes. Oh and thyroid meds. Very important for me.
That is wonderful that you have been able to manage your symptoms and regain strength back. So it sounds like your PP is secondary and caused by your hashimotos/hypothyroid disease. Is that the case?
@@PeriodicParalysisAssociation it was what brought us to the diagnosis but at this point we arent sure if it was thyroid induced. It is possible. But I have no way have further studying with MD care here in AK. So, maybe?
PMW do exist in pp patients and comes as you age. In our younger days we are more agile. When we grow old proximal muscle weakness i sets in and strength of our muscles comes down. As Doctor told life style modification, avoiding triggers and preventive medication may help to some extent.
Just watched the video regarding permanent muscle weakness. Must profoundly disagree with Dr Cannon. Yes, bouts of total paralysis do destroy the muscle, but when the paralysis stops, the muscle continues to waste away. It is a slow process, but looked at over a time period of a few years, the deterioration in the muscle becomes very marked, and the muscle continues to deteriorate, no matter what excercise is taken. I have had only one bad attack of paralysis in the past 10 years, but have gone from walking with one elbow crutch to putting my whole weight on two crutches as my back muscle has almost completely gone. Been on Diamox for 50 years and now take it in conjunction with Furosemide to reduce the amount of water in the muscle fibre. Not that that seems to make any diffeence.
Thank you for your comment. Are you familiar with who Dr. Cannon is?
Thank you for your comment. Are you familiar with who Dr. Cannon is?
@@PeriodicParalysisAssociation Yes not personally but from literature and his works on PP
@@bryanelkington5634 are you using potassium if hypokalemic?
Dr Canon refers to optimising muscle function as much as possible. How does he recommend to do this ? Is starting medication eg acetazolamide at a younger age as opposed to ongoing high level potassium supplementation (plus healthy lifestyle) more effective?
Medication at a younger age is always helpful. also, making sure you are on the right medication and dosage. Every patient has different needs at different ages.
Ken, great question. Please visit our "Ask an Expert" on our website to ask about medical advice. I have attached the link. periodicparalysis.org/ask-the-experts-disclaimer/
Thank you
By minimizing attacks. He says this in the video but I can personally say this my first attack and then my second attack within a few months of each other where I had to be taken out by paramedics and by the time I got to the emergency room the second time I was not able to walk. Let alone talk. So I work really hard to try and not let my muscles get that bad. What I have to do is not just take the potassium find it in other food sources because overtime the medicine is hard on my stomach. Put one of the things I'm going to have to do is drink far more water create a bake flash help get up in the morning and I drink two 8 ounces of cups of water. That was hard to get used to doing. I have to try and time when I'm going to pee depending on what I'm doing. But once I'm stop moving if I've been moving around my muscles don't like me. One problem with my right legs that recently was injured i've had to have surgery. It took awhile to heal but the muscles that don't get really stiff I don't know if that's a form of muscle damage to the doctors I've said follow your muscles are really tight. But I think it's from the low potassium.