Ever since I can remember, I have had what physicians always described to me as an essential tremor. Most acquaintances have noticed that I shake. It turns out that this is one of the earliest symptoms of Kennedy’s Disease. KD is a long-term degenerative neuro-muscular disease caused by a gene mutation. The disease affects principally males, usually presenting in a noticeable way in late middle age. I personally noticed a physical degradation in my mid-forties. KD doesn’t kill you, but it does make activities of daily living more and more difficult as you get older. I like to describe it as my physical age being about ten years older than my biological age. I’m very lucky, able to lead a fairly normal life so far. Many of my fellow KD sufferers are not so lucky.
I have known since 1989 that my uncle had the disease. I did some research and discovered that I had a 50/50 chance of inheriting the gene mutation. He passed from pneumonia in 2004 at the age of 68. While no direct link to KD was established, he did have trouble swallowing, which could have made him more susceptible to pneumonia.
In 2007, while on a ski trip out west, I experienced my first episode that indicated to me that I likely had the disease. At the end of a long day of skiing, I arrived at the bottom of the hill. I was exhausted and sat down in the snow. I couldn’t get up for about ten minutes. The second episode occurred in 2011 at the tail end of a hiking trip in Philmont, NM with my son Nathan. While coming down off the mountain on the final day, I completely ran out of energy. My fellow hikers had to carry my backpack and assist me to the bottom.
I never sought an official diagnosis; there was no cure and I was fearful that I would become uninsurable. I finally decided to get checked out by a neurologist in 2020 after a blood test indicated that I was sloughing off muscle tissue at an alarming rate. I was fortunate to be diagnosed by my neurologist (KD is quite rare and frequently misdiagnosed as ALS). Fortunately, my neurologist happened to be treating another KD patient. She recommended I see a KD specialist at Johns Hopkins. I tested positive for the gene mutation in early 2022.
I consider myself very fortunate, able to walk and take the dog out hiking in the woods – with hiking poles. I’m not able to do all the activities I used to, but can still play golf (needing to take a cart now) and enjoy swimming on a regular basis. My wife, Mimi, and I retired early so that we can enjoy a bit of traveling before the disease progresses too far.
Fortunately, we have made tremendous progress in understanding how the disease affects the body. This is due in large part to the funding the Kennedy’s Disease Association has provided over the years for research. It is also due in no small part to the efforts of the National Institutes of Health. Currently, there are ongoing clinical trials for two novel compounds. There are also a couple of studies ongoing investigating the effectiveness of drugs currently on the market that are used to treat other diseases. Unfortunately, we are years away from treatment, and funding cuts continue to occur at NIH.
We need your financial support. Our “100 Step Challenge” refers to the fact that, frequently, a KD patient isn’t able to make it 100 Steps without assistance. We know how Kennedy’s Disease affects our cells; we understand how to potentially treat the disease; we are on our way to discovering a treatment or cure.
If you’d like to help me reach my fundraising goal, you can visit my page and make a donation here. You can also leave a message for me about how you're doing and why you decided to donate – I’d love to hear from you!
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Thank you so much for helping me reach my goal, and for supporting Kennedy's Disease Association. We couldn’t do it without you!
