Kennedy's Disease (Bill's Story)

Kennedy's Disease (Bill's Story) -

How Kennedy’s Disease is passed genetically

Came across these two illustrations, which I thought did a great job of showing how Kennedy’s Disease can get passed from generation to generation.

The picture below shows a mother being the carrier:
-Male child has a 50% chance of getting the disease
-Female child has a 50% chance of being a carrier


The picture below shows a father having Kennedy’s Disease:
-Male child will not have the disease
-Female will be a carrier


March 19, 2013 – Health Update

Since the last time I wrote, I was finally able to have a video esophagram done to see if any muscles are affected as far as swallowing.  The test turned out to be normal, even though sometime food seems to be stuck in my throat, and I tend to cough while eating, but maybe that’s because I’ve always eaten like I’m in a race for the finish line…lol.  Anyway, a big concern for Kennedy’s Disease (Spinal and Bulbar Muscular Atrophy) patients is aspiration, where food goes into the lungs due to a muscle weakness in the throat area.

Last week, I saw a foot and ankle specialist because I had some problems with my ankle, and it turns out that there is more bend in my ankles due to muscle loss, but the pain is coming from the sinus tarsi, which is a small hole that is normal in both ankles.  This can get inflamed and is quite common.  The doctor wrapped my foot and I wore the bandage for 3 days as instructed.  I’m currently taking anti-inflammatory medication for two weeks to basically get rid of the inflammation.  If this doesn’t help then the next step would be cortisone shots.

Finally, my wife’s patient recommended a chiropractic place that does what is called EB Cellular Therapy, which is a holistic approach to detoxifying the cells.  Some people believe that this helps with patients that have neuromuscular disorders and has been shown to improve strength.  Kennedy’s disease is basically an error on the X-chromosome that causes the body to think that androgen receptor is toxic because of high repeat level in the body’s cells.  I am schedule to go this week, so hopefully it will make a difference, definitely not a full-blow cure by any means.  As always, thanks for your prayers, kindness and for listening.

Information on EB Cell Therapy:

March 1, 2013

I know it has been a few months since I updated my blog, and unfortunately there was no miracle cure that took place between now and then.   The end of last year I saw my regular doctor and did get my flu shot as well as a pneumonia vaccine, as recommended by the doctor I saw in October at the DMC.

The holidays were a busy time for Kim and I, especially in December.  During the month, my cousin has a holiday party and each year she chooses a charity for guests to make donations to.  This year they chose the Kennedy’s Disease Association (KDA) and raised well over $500.  I was honored and it really meant a lot to Kim and I.  Words can’t describe how I feel when family members and friends donate money to the KDA in my honor.  It is a truly wonderful gift and very much appreciated.

A few days ago, I saw my regular doctor and he reported that my cholesterol, sugar, and everything was going in the wrong direction.  I know this is related to Kennedy’s Disease, but also know there is a lot I can do to improve those numbers.  Sometimes it’s overwhelming and I feel like I’m fighting an uphill battle, then I realize, I am.  I noticed in the last few months that my ankle has began to bother me.  While at the DMC in October, they talked about possibly the need for braces in the future.  As of today, I will soon need to make an appointing for orthotics.  It’s not that bad, my ankle just bothers me some days.  Mostly the left one, but sometimes the right one as well.

Also, I finally got a script from my regular doctor for a swallow test, which will also need to be scheduled soon.

Despite these small difficulties, Kim and I are going to have an awesome 2013!!
Thanks for reading.

Doctor Appointment

On October 12th, Kim and I went to the DMC for a follow-up visit for Kennedy’s disease.  We saw a new doctor there, as my previous one moved out of state. She was really nice and we discussed things that I discussed with my previous doctor so she could establish where I was at.  DMC medical interns examined me and had me do basic strength tests, good news is nothing changed from my last visit.

The doctor brought up things such as diabetes, high cholesterol, swallowing issues, as well as snoring, which are all common things for Kennedy’s patients. I told her that I was being treated for high cholesterol, my sugar is monitored every few months, and that I have a CPAP machine for sleep apnea. While I saw a speech therapist back in July, she wants me to have a swallow test done.

I tend to cough while eating and seems like every time I have cold or sinus infection it always takes at least a week or two to stop coughing. Now we know why.  Kim has noticed that I cough weird, like an engine that can’t quite turn over. The doctor recommended flu shots once a year as well as a pneumonia booster vaccine once every 5 years.

As carriers of Kennedy’s disease, my grandmother and mother both cough similar to me. Carriers can have minor symptoms of the disease and I believe these are signs of them. I remember when my grandmother was alive, it would take her weeks to get rid of a cough.

The DMC is supposed to contact me so that we can schedule a swallow test. The more we can do now to help treat these symptoms, the better off we’ll be later. Just by being aware of the symptoms and effects is half the battle.

Many Kennedy’s patients die from the symptoms and other issues, rather than the disease itself. Both Kim and I are concerned about aspiration into the lungs, so we will see what the test shows and go from there. I’m glad that I’ve never smoked, because it would make it so much worse.

Physical Therapy

After my diagnosis, my doctor recommended that I do physical therapy to help prolong muscle weakness as much as possible.  My goal with Kennedy’s disease is that I want to be as mobile as possible, for as long as possible.  I’m currently doing workouts at home that help strengthen, what is referred to as your core.  These muscles are by your hips.  I also do stair-steps, as I have some difficulty climbing stairs, along with arm expercises to help strenghen shoulder muscles.

I have to say after doing these expercises I feel more balanced and more stable, like I’m not just going to fall over.  They seem to help quite a bit.

I also had speech therapy to help with swalllowing and exerciese for your throat.  As the disease progresses, swalling may become more difficult.  The therapist gave me techniques and things to do so that I don’t choke, along with providing me various exercises I can do for that as well.  She said one of the best things you can do is read out loud often, as if you were giving a speech.