The problem I have with this scenario is that far too often in this modern world of medicine we are still being misdiagnosed. The DNA blood test is a simple, relatively fast, and a low cost way to determine if a patient has Kennedy's Disease. Yet, a least a couple of times a month I receive an email from a family member (most often the spouse) explaining the symptoms and wondering if it could be Kennedy's Disease. Because the internet can be an excellent resource to help educate us on symptoms and potential health concerns, most often the person stumbles across Kennedy's Disease and the Kennedy's Disease Association in those searches. Even more impressive is that people are more likely to share the information they discovered with their doctors. Thank God that the days of simply letting the diagnosis and treatment be a one-way conversation are mostly gone.
Yes, I realize a diagnosis is often a best guess based upon visible or quantifiable symptoms. It is not an exact science. On the other hand, doctors have many tests today (as compared to just ten or twenty years ago) to help diagnose a condition or disease. My concern is for family when a misdiagnosis is initially given. Most often the misdiagnosis is ALS. I cannot even recount the number of times someone has shared his or her family's story after being misdiagnosed. The initial thoughts and emotions are difficult to grasp as they try to rationalize why this is happening to them and what it means to the family. Some families have made life-changing decisions after the initial misdiagnosis.
Were you initially misdiagnosed? If so, what was the initial diagnosis? What were those first days like for you and your family?
No I wasn't misdiagnosed, probably more by good luck than any other reason. My cousin was misdiagnosed with ALS then a short time later correctly diagnosed with KD. After that news and after comparing symptons I was fairly certain I had KD and this was confirmed with the blood test. So it was my poor cousin who had to go through the trauma of being diagnosed with ALS before the (relatively) good news arrived.
ReplyDeleteIs there any reason why the medical profession make such a heart wrenching diagnosis when they can't be certain that they are correct?
Denis, thanks for reading my blog and your comments. I believe that Kennedy's Disease is such a rare disorder that if the doctor does not have any family history to relate to, he/she just believes it is the correct diagnosis. If there is a family history or the doctor has seen other patients with KD, life becomes a little easier.
ReplyDeleteBruce
I have had pelvic problems for 20 years, and recently my left shoulder in particular has weakened and I find it hard to move my shoulder in the way I used to. I can get spasms in my arms, legs and back muscles very often and feel very fatigued most of the time. Originally 15 years ago I was diagnosed with something called osteitus of the pubice, brittle bones in pelvic area, and had 10 scarostion injections (sugar) into sacriatic joint and pubice. Years later I have no strength in pelvis at all, and shoulder and spasms getting worse. A couple of times I've also had the spasms in my throat, bottom of my feet and even Penis. Is this similar to anyone else? I've never heard of kennedy disease till I read this today, and thought God I have some of those symptoms.
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