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Early correct diagnosis?
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Registered: 08-09-2017
Posts: 9
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My first diagnosis was ALS, then CIDP then some slow, not yet understood form of ALS until they hit upon KD. I picked up on several threads here that this may not have been an uncommon occurrence. I don't want to point any fingers, I just want to know how typical it was. What did they first think you had? Thanks
Location: Brooklyn, NY
Registered: 02-10-2017
Posts: 17
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My grandfather was diagnosed with ALS in the early/mid 80's. He lived another 13 years, and died of a stroke. Now with my and my cousins diagnosis it is very clear that he had KD. It is very upsetting to think about the consequences of a misdiagnosis. I shudder to think that I could have gotten an ALS diagnosis. I would hope that any ALS diagnosis involved a testing for KD first to save that experience.

I'm sorry you had to go through that ordeal.
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 194
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I've heard from a few people they were first diagnosed with ALS. Horrific to contemplate being told incorrectly that you probably have just a few years left to live.

I hope it is getting less common. I go to the University of Chicago hospital and have agreed to be an educational test subject. I've been seen by many students and almost all have been able to diagnose my Kennedy's disease after a short interview and a minimal exam. However, I strongly showed all the clinical symptoms of KD and there is quite a lot of variation in expression so others may be more challenging to diagnose.

My case was so easy I diagnosed myself nearly 30 years ago on my first visit to my University's medical library and got it confirmed later when the genetic test became available. It will be curious to see if students continue to be able to diagnose me now that my clinical symptoms are fading.
Location: Brooklyn, NY
Registered: 02-10-2017
Posts: 17
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I should also note I'd spent about 8 years trying to figure out what was happening to my body, and had seen many doctors. I was just starting a new round of doctors and tests when I was informed that my cousin has KD, and it is very likely what I have. My neurologist at the time wasn't the greatest, and I have a strong suspicion he would have given me a misdiagnosis; when I told him about KD it seemed completely off of his radar. I shudder when I realize I could have been diagnosed with ALS and all the fear and changes I would have had to make with that reality.

It's funny - with all of my symptoms I had self diagnosed that there was something off with my testosterone - which was pretty close to the mark in retrospect. Todd, knowing your research skills I'm not surprised you were able to come to that conclusion yourself. Smiler
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 194
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I developed facial tremors that I saw in my grandfather. I got his autopsy report and among the findings it listed Kugelberg-Welander disease plus gynecomastia. I suspected Kugelberg-Welander disease was wrong when I found out it was a childhood onset disease and I knew my grandfather became symptomatic around 30. I was already beginning to develop man boobs and by good luck searched for spinal muscular atrophy plus gynecomastia and found Kennedy's disease - a perfect fit.

I've been aggressively dieting and weight lifting. The gynecomastia isn't gone yet but it is reducing and I expect to lose it altogether, perhaps in the next couple of months. I'm beginning to show chest and abdominal muscles. That ought to make it tougher on future students challenged to diagnose my condition.
Location: Raleigh, NC
Registered: 10-02-2010
Posts: 35
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I was diagnosed in late 1989 while serving in the USAF. Their initial diagnosis, also, was ALS but they wanted to refer me to a specialist (Dr. Theodore Munsat) for confirmation who made the distinction and correct diagnosis of SBMA. But, for a few weeks we were devastated over the possibility of my having ALS. Bear in mind though how little was known back then and the diagnostic procedures were pretty comprehensive including EMGs, Lumbar puncture, and even a muscle biopsy from my left thigh.
Registered: 08-09-2017
Posts: 9
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I'll add that I am asymptomatic as heck. There was a episode 15 years ago that may or may not have been KD related as well as other things. The diagnosis this time took over a year.
I'd still like to hear from more, if you're out there. Thanks again.
Registered: 01-08-2013
Posts: 61
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I was first diagnosed as bi-polar when issues of fatigue first surfaced, prinzmetal's angina was the conclusion when I experienced a series of severe chest cramps, and post concussive syndrome followed a number of unexplained falls (and concussions) at work. The KD diagnosis was based on my brother's diagnosis and the confirmation meant immediate removal from my place of employment... so I consider my self fortunate in a way for the misdiagnosis; I have accomplished many things which would not have been possible had others known of the disease. Currently at 65, I have fewer symptoms than I did at 30 and probably would not have sufficient symptoms to be diagnosed at many medical facilities were it not for the blood test.
Location: Santa Rosa, California
Registered: 04-08-2016
Posts: 3
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Three uncles, all diagnosed with ALS. I was diagnosed with ALS in 2010 and was rediagnosed 6 months later correctly with KD. Logic tells me my unlces were KD as well. Wink
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Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614
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