Misdiagnosis – It is still a problem

In the 1980s, my entire family (nine siblings and my mother) agreed to have blood tests after one of my brothers began showing symptoms that could be ALS related. The results of the tests showed that my mother, two brothers and I had Familial ALS. We could have just accepted the diagnosis, but fortunately two of us had good neurologists that recognized the symptoms were more closely related to Kennedy's Disease (Spinal Bulbar Muscular Atrophy).

Even more fortunate, my neurologist referred me to Dr. Kurt Fischbeck, a leader in Kennedy's Disease research, who was at the University of Pennsylvania at the time. I still remember walking into Dr. Fischbeck's office that day. He looked up from his desk and watched me for about ten seconds before commenting, "You have Kennedy's Disease." He said he could tell from my walk (more like a waddle at the time). He still gave me the DNA blood test just to confirm the initial diagnosis.

Even though we have the DNA blood test today for Kennedy's Disease, hardly a month goes by where I do not hear from someone who was initially misdiagnosed. Most of the time the misdiagnosis is ALS. The cause of this problem is in the rareness of our disease (est. 1-in-40,000). Many doctors still have not heard of Spinal Bulbar Muscular Atrophy. Others are still not aware of the DNA blood test.

In almost every case, either the patient or the spouse did some online research comparing symptoms and age of onset, and determined that the condition was probably Kennedy's Disease. Fortunately, the Internet can provide us with easy access to a plethora of information ... at times it can be good, at other times bad, and occasionally even ugly. My suggestion is not to believe everything you read online (including what you read here because I was wrong once thirty years ago). Nevertheless, I would encourage you to do your own research and then take the information (printed copies work best) to your doctor for further discussion.

How about you, were you originally misdiagnosed?