I am 52 years old, married with three children ages, 13, 18 and 26. I also have a one-year-old granddaughter. I was first misdiagnosed as having Muscular Dystrophy in 1997 but in 1998, it was confirmed I have Kennedy's Disease. As a background to my condition, my brother, who passed away in 1992 at 54 years of age, was also diagnosed with Muscular Dystrophy (my doctor feels strongly that he was probably misdiagnosed). At the time of his death, he was using either leg braces or a wheel chair to get around. My brother died as an indirect result of his disease. He fell and broke his leg and as a result of complications to his surgery, he died.
As with some KD afflicted patients, I had minor signs in my 20’s & 30’s, but never associated them with any disease. Even when my brother was first afflicted, I must have been in denial, as I didn’t even give it a second thought that I might also have this genetic disease. Only after he died and some further symptoms developed, did I seek medical consultation. Visiting my family doctor and having subsequent nerve conductive tests (electromyography) completed by a specialist, the initial diagnosis of Muscular Dystrophy was then rendered. I then decided in early 1998, based on recommendations of the Muscular Dystrophy Foundation, to be examined by the Department of Neurology at Albany Medical Center in Albany, New York.
I was fortunate on my first visit to Albany Medical Center, that Dr. Neil Lava saw me. After studying my medical records including previous nerve conductive tests, Dr. Lava suggested he would like to redo these tests. As anyone who has been subjected to this test can tell you, they are not fun, except for maybe a demented doctor; (I liken the test procedure to sticking your finger in a light socket a couple hundred times). I was not too excited to be subjected to it again, but a more rational mind prevailed.
Dr. Lava was not convinced of my diagnoses based on the results of the initial nerve test. He had been subjected to a small study relating to KD while he was in medical school and suspected that I might have KD, not MD. Within minutes of reviewing results of my second nerve test, he informed me as having Kennedy’s Disease. Further blood tests confirmed his findings. This was a blessing in disguise for our family. Since my wife is not a carrier of KD, it could not be passed down to my 13-year-old son, who with Type 1, juvenile diabetes, would not be burdened with two life long diseases. Had it been MD, genetically, it would have been possible for him to have that disease.
Currently, I am still mobile and get around fairly well, but I do have my moments. Although I don’t presently use a cane, it is getting time that I do use one all the time. I tend to get tired easily when walking any distance and falling down can happen without warning. This usually happens when I get tired and some small irregular surface, such as a small pebble, is stepped on, throwing off my balance. Stairs look like Mt. Everest to me, and avoided whenever possible. Climbing stairs means hanging on to the handrails and taking two steps per stair, making getting to the top considerably longer than normal. Overall loss of muscular motor skills makes buttons, shoe laces, keys other small items "fun" to work with. Even when well rested, I usually wake up feeling like I played football the day before with my son. No high-level pain, but aches, pains and general stiffness are the order of the day.
Swallowing is the major concern, at this time. I have choked a number of occasions, with one incident having the paramedics being called. Dr. Lava has had a specialist complete a swallowing tests on me and based on the results, has made recommendations as to how and what to eat. Eating is a slow process.
I am presently, still working. As a profession, I sell commercial construction materials and do some related consulting. Since I am expected to be on construction sites to monitor applications of the products, adjustments had to be made. My employer has been very supportive and has gone to the extent as to providing me with an assistant to make those site inspections.
Although the KD is progressing, my quality of life is as of yet, not changed dramatically. However, at first, knowing I had KD made living with me pretty miserable. As one with little outside interest other than work, I felt I was being cheated. Finally in my career, I felt I had "hit my prime" and my 50’s were where I could have secured our families financial future, instead I got "The Disease". I am sure this was evident in my overall attitude and behavior. Fortunately my employer has an excellent disability plan that will provide some measure of financial stability when I am unable to work.
Given time, my attitude has now changed. One of looking to the future and hopefully getting out of each day as much as I possibly can. I now accept help with the daily tasks. Early on I thought by accepting this help, it was giving in to the disease. Once I got over this attitude, I found this help improved the quality of my life. This help, spares my energy and makes it easier to enjoy "the other things in life".
I am extremely fortunate in that I have a supportive family. In some respects it is harder on my family now, than for me. Their burden is knowing that my need for care will increase as the years and KD progress. I am grateful I am not facing this disease alone and I only hope that my family continues to find happiness from life.