Submitted by deb on Wed, 10/12/2011 – 23:03
The PPI’s Client Services Representative in The Netherlands is Irm. Irm and her son were clinically diagnosed with HypoKPP-plus in Germany in September 2011, but she has had symptoms since she was a young child. At the age of 7, she told her parents, “My head is awake but my body still sleeps”.
When she was about 12 years old, she asked her parents if they poisoned her because she always felt very sick and weak after eating. She could not go to university as she wanted. She knows she has to remain active for her muscles . Therefore she had to wake up before 5AM for work, 5 days a week, and this prevented the attacks for years. The other two days were always a big problem, as she was often ‘sick’ and weak on free days.
She learned to accept herself and not to compare to others. That helped, however, her symptoms were unrecognized by doctors and there was no treatment. She read a lot, even going into the medical library where she was not allowed to come. Later in the 90s, searching the Internet on her home computer made looking for an answer easier. She read about Periodic Paralysis on a Dutch site but the symptoms and advice were not recognizable, so she left the site and searched further.
Her son told her the same as she did as she was young, “My body would not wake up like my head”. He then was about 7 years of age. About 8 or 9 years later she read again about periodic paralysis on the HKPP.org site and this time recognized the symptoms. In the meantime her son had developed the same symptoms as hers, but worse. Both are now being treated for HypoKPP-Plus and hope to get help for another ion-channel problem.
In their own country they could not find the help they needed but within the last few weeks Irm went to Germany where she spent 11 days in a neurology facility undergoing intensive testing. From this she has received at last a diagnosis of the specific type of periodic paralysis she has. It has been a long road, watered at times with tears, but Irm is a strong and very courageous woman who faces every challenge with hope and quiet determination. She is an inspiration.
Thinking back my first symptoms of HypoKPP began at an early age while playing games with the other kids. I was probably 10 years old or so at the time. I started off playing games just as good as the others, but didn’t have the stamina to keep up with everyone else. I slowed down running and/or became clumsy and fell down. Back then I thought everyone was like that and never told my mom about it. In a few hours my strength would come back and I’d be back to my normal self.
One morning when I was 15, I woke up and was unable to get myself up out of bed. Back in those days doctors made house calls and in a short time my doctor was knocking at the door. Right away he thought I was faking in order to skip school but was very surprised when he realized I really couldn’t get up. Before he could make arrangement to get me to the hospital I started to come out of it and soon returned to normal.
Over the next few years I became diagnosed with Familial Hypokalemic Periodic Paralysis. I had many attacks of complete paralysis which landed me in the hospital, but usually came around in 24 hours or less after an IV of potassium. All of my complete paralysis attacks happened while I was sleeping and I woke up not being able to move.
After high school I went to work building submarines at the local shipyard. Being a young man they put me on the second shift in the middle of a New England Winter working outside. It didn’t take long before the combination of eating habit changes and working in the cold did me in. One night I consumed a giant bowl of popcorn covered in butter and loaded with salt after getting home from work after midnight. The next morning I woke up completely paralyzed and was rushed to the hospital. This time it would be different, this time when I got there I could no longer breathe. This was 1962 and things were not like they are today. I was given a tracheotomy to open an airway and put in an old iron lung machine left over from the polio years. Two more times (1963 & 1964) I was unable to breathe during an attack and was given a tracheotomy. All 3 times the trac tube remained in place for a few days till they were sure I was alright.
In 1970 a new doctor put me on a complete salt free diet along with low carbohydrates. I also started taking K-Lyte (25mEq) at each meal instead of the other types of potassium supplements that I had been taking for years. Things seemed to stabilize and my HypoKPP episodes were milder and fewer.
In the Fall & Winter of 1981 I had two heart attacks followed by bypass surgery in early 1982 which brought on paralysis. This episode is described in Clinical Report Ref: Rollman JE, Dickson CM. Anesthetic management of a patient with hypokalemic familial periodic paralysis for coronary artery bypass surgery. Anesthesiology 1985 Nov 63:526 –7.
My legs never went back to normal after my heart surgery, I began to fall and the weakness progressed in my legs. In 1991 I had a muscle biopsy and was diagnosed with Inclusion body myositis. I was placed on prednisone (80mg/day) plus Imuran. I then required much more K-Lyte (9-12/day) to maintain normal movement.
I received numerous compression fractures following falls in 1992, I was then diagnosed with Osteoporosis. I could no longer work at that point and was considered disabled. February 1995 brought on two additional heart attacks followed by my second heart bypass surgery. My permanent muscle weakness in my quads advanced following recovery.
From that point (Summer 1995) through September 2009 I became weaker and went from walking with a cane, then leg braces added and next to using forearm crutches. Due to numerous falls plus additional fractures my doctors recommended I use a wheelchair full time.
September 2009 I had another myocardial infarction and three stents were inserted at that time. Further monitoring over the next few months indicated progressive heart failure. An implantable cardioverter-defibrillator (ICD) to correct and prevent severe arrhythmias was implanted in January 2010.
Up till my last heart attack I tried to stay as physically active as I could in order to maintain what muscle strength that I had left. This last battle has slowed me down a lot and I find the basic activities of daily living difficult. I try to be as physically active as I can under the circumstances and find ways to accomplish what needs to be done.
My story with HypoKPP started early. I had a paralytic episode within moments of birth. The doctor told my parents that I would almost certainly die, and that they should not see me, to avoid unnecessary grief. By day five, when I was still kicking off the blankets in the nursery, my father went down and demanded that he be allowed to see me, and he took me to my mother.
Repeated episodes of flaccid paralysis were diagnosed as polio during my first few years. I was paralyzed to the point of being put in an “iron lung” for several days when I was about 14 months old. Miraculously I always recovered my ability to sit, walk and play normally after these “polio” attacks. At age 11 I did have polio, and went through a long process of painful physiotherapy, having to relearn to sit up, stand, walk, and use my arms and hands.
Though it seems almost unbelievable I went through the first 41 years of my life not realizing that it was abnormal to awaken paralyzed in the morning. However I knew the consequences of trying to get out of bed before the paralysis resolved, as I fractured my skull, broke my nose, sheared off several teeth and broke other bones, trying to get out of bed before my muscles “woke up”. But that was how I though of it. I thought everyone’s muscles took time to “wake up” and I’d never mentioned it to any of my doctors.
I was very active physically. We owned a kennel, raising, showing and training bloodhounds for search and rescue work. Training in particular requires running miles over rough ground. I would regularly run five or more miles a day with 100+ pounds of dog pulling on each arm. Then during a search for a missing child I stepped into a gopher hole and tore all the tendons in my right knee. By the time my knee had healed I could no longer walk more than a block. In three months time my muscles seemed to have gone to water. I had to crawl up and down the stairs in our split level.
I was diagnosed after trying to get out of bed to answer a ringing phone in the middle of the night. My feet and legs were flaccid. I fell and broke every bone in my left foot. When I explained to my family physician that I had tried to get out of bed before my muscles woke up she questioned me very closely. She sent me to a specialist who put the morning paralysis together with the muscle weakness I’d been experiencing during the day, asked about my family history (which is full of people with “sleepy” muscles) and reviewed some tests he’d done earlier.
The medication he gave me virtually eliminated the morning paralysis and increased my strength exponentially. It’s been 25 years since my diagnosis and I’m now 66. There’s no denying I have to “baby” my muscles, and pace my activities, alternating shopping trips etc, with quiet days. I use a cane occasionally and lean on the cart when I’m shopping. I take several medications for my HypoKPP, and I often chafe at being able to do about 1/4 the amount of what a “normal” person my age could do. But I’m blessed in that I have no other serious health complaints. At this point my heart, lungs, and other systems are in working order and pass their annual mechanical with flying colors.
I’m blessed with a great family, have a wonderful family physician who works with me, and have the advantage of what my affected father, grandmother, great-grandfather and others in my family did not have, a diagnosis and effective treatment.
After a normal childhood, at age 14 I had my first weak spell after gym class but recovered spontaneously. Later that year (1957) after a strenuous weekend of hiking and camping, I awoke very weak, got progressively weaker, and by evening was totally paralyzed. Taken to the hospital, I was described as having “profound flaccid muscle paralysis”. My potassium level was 1.2 meq/l. An iron lung was moved into my hospital room. After being given oral and IV potassium chloride, I recovered after some hours. Over the next months, I took potassium chloride tablets, but I continued having weakness attacks, requiring hospitalization on some occasions.
Later that year I had my first trip to the Cleveland Clinic to see Dr. P McCullagh, a renowned specialist. It was noted that my urinary aldesterone was significantly elevated, and a preliminary diagnosis of primary aldesteronism without hypertension was made.
As there had been cases of adrenal tumours causing hypokalemia, I had surgery on those glands. No tumour was found, but a good part of the glands was removed. Afterwards, I had no attacks for a couple of months, but then they recommenced as the glands regenerated, and I was again hospitalized (K+ 2.7). As there was no family history, the diagnosis was likely “a rare case of a sporadic non-familial type of periodic paralysis, associated with intermittent hypokalemia and occasional transient increase in aldosterone excretion”. A sodium free diet helped, and most severe attacks followed strenuous exercise.
My family doctor wrote at the time “Brian is very optimistic and feels that time will take care of his symptoms … I do not share this optimism” Noteworthy is that I’ve had excellent treatment – kind, knowledgeable and compassionate — through the years from virtually every doctor and specialist.
The drugs chlorothiazide and thyroid were tried, but made the condition worse; however, aldactone (fairly new at the time) was tried in 1963 and significantly lessened my attacks.
With aldactone and supplemental KCl, I managed quite well through my thirties and forties, leading an active life, traveling extensively, bicycling, swimming, and hiking, as well as succeeding in responsible jobs. While I had a number of weakness attacks, I managed generally.
In 1979, however, I overdosed on potassium and ended up in hospital again for the first time in 15 years. My potassium level was called “lethal” at 8.0 meq/l, and was brought down in the emergency department. About that time a new diagnosis of “Bartter’s Syndrome” was suggested, even though I didn’t have the usual symptoms of extreme shortness (I’m 6’2”) or cognitive limitation. This diagnosis is no longer mentioned.
Sometime later (1992) with some continuing muscle weakness (especially quads) I had a deltoid muscle biopsy. It was concluded that “The overall appearances of muscle fibres are consistent with the diagnosis of periodic paralysis myopathy (secondary hypokalemic type, Bartter’s syndrome)”.
In the 1980’s I had two sons. At age 13, the eldest began having symptoms, and we both had a genetic test which confirmed HypoKPP, mutation ARG 1239HIS. Later our younger son was also confirmed with the same mutation. Both sons have had a number of significant attacks of weakness, including total flaccidity, and have had some bad times; however, they generally manage their condition very well with diamox (500 mg) and K+ supplementation. Both have graduated from university and are working successfully.
In my fifties, I was again having many attacks which required my wife to give me K+ during the night. Owing to permanent muscle weakness and frequent attacks, I retired with a disability pension in 1998.
At present, I have very infrequent spells of mild weakness which improve almost immediately with a K-Lyte ( I’m very careful with diet, severely limiting salt and carbs, and take 100 mg spironolactone daily); however, my quads are extremely weak, and I’m reliant on a wheelchair, only able to walk 50 feet with assistance.
It is noteworthy that I’ve been doing physiotherapy and other exercise for years, and believe these have helped considerably and slowed, but not stopped, my muscular deterioration.