This page provides information, and links to other related sites, about Kennedy's Disease, or KD. KD is formally known as spinal and bulbar muscular atrophy, or SBMA . KD was named after Dr. William R. Kennedy, who was among the earliest researchers to differentiate and explore this disease.
KD is a rare disease that causes weakness of the extremities and of the muscles used for speech and swallowing. It is an adult onset disease. Its neuromuscular symptoms first become apparent in men in their third to fifth decade of life. It is slowly progressive and there is no cure. KD is a disease caused by an inheritable X-linked genetic trait. While both men and women can possess the trait, women are known to be carriers as they usually do not experience disease symptoms. The mechanism of the disease involves an expansion of the CAG trinucleotide repeats in the androgen receptor gene in the X-chromosone. It is definitively diagnosed with a DNA analysis.
Due to its neurogenetic mechanism, KD has generated an intense amount of research interest. Several other diseases have been found to involve an expansion of trinucleotide repeats.
My interest in KD is driven by the fact that I have been diagnosed with KD. I had first sought the care of a neurologist due to a weakness in my right calf. It was first thought that it was related to my previous back injury and subsequent two surgeries. It took almost a year for the correct diagnosis to be made after my initial visit to the neurologist. Because of the rarity of the disease, it is seldom mentioned in many medical books outside the fields of genetics and neurology. Because I was not able to readily discover information about KD, I questioned my neurologist, and he gave me a copy of a research journal article. That started my quest for information about KD, neuromuscular disorders, genetic disorders, and support groups. My desire to pass on my knowledge to others led to this Web site. In knowledge there is strength.
A goal of mine was to establish an Internet-based KD support group. Because the disease is so rare and so few people are affected, and those that are tend to be widely dispersed, no support group specific to KD had been established. I felt that increasing connection between dispersed people would provide an opportunity for KD patients worldwide to meet online, share experiences, and help each other. This Web site was my first effort at something like this.
Since I first went live with this Web site, I've met (via email and by letter) many people from around the world who are in the KD family: men with KD symptoms, men who have the KD trait but have not yet started to have the symptoms, women who are carriers, people who have KD in their families, friends of people with KD, and even an occasional woman with KD symptoms (thus proving the exception to the rule). Among those new friends, I met Terry Waite, another KD patient who coincidentally had begun a Web site about KD. We metin person for the first time this spring at a conference. Terry, his wife Susanne, and I discussed our mutually held goals to begin a support group. Our dreams came to fruition this fall with the establishment of the "Kennedy's Disease Association, Inc.", a non-profit corporation dedicated helping the KD family, and to support research to find a cure for this disease.
I hope this page provides adequate information to those who seek it. Please remember, this site is constantly evolving, so bear with me while I build it. I gladly accept all recommendations and advice to improve it and help make it better suit your needs. My computer is old and slow (kinda like its owner :-), so patience will have its own rewards.
Finally, for those with KD, keep your chin up! I mean this both metaphorically and literally. Interestingly, there is a Japanese expression that corresponds to this. I learned of this from a Japanese contact. I'm interested if other cultures have similar sayings.
A short list comprised of the best
of my library of links, new links, or links to the most current happenings in
KD treatment or research.
National Organization of
Rare Diseases (NORD)
Muscular Dystrophy Association
(MDA)
Genetics
Services Network
Hereditary
Disease Foundation
NeuroMuscular Research
Center
Online
Mendelian Inheritance in Man (OMIM) KD Page
Kennedy's Disease Association
I especially wish to thank those responsible for the references and links I've placed here for your use. I am indebted to the physicians and other healthcare providers who've taken time from busy schedules to give me their help, especially my neurologist, Dr. Barry Festoff, who started me on this journey. My heartfelt thanks to my friends and relatives who continue to provide much-needed support and encouragement. And last, but not least, my best to the new friends I've made who are travellers on the same journey as I.
Email Me
Or write me at:
PATRICK T. GRIFFIN
1804 QUIVIRA ROAD
WASHINGTON, KANSAS 66968
USA
© 1997 Patrick T. Griffin
Site Last Updated On: February 26, 2001