Tuesday, November 30, 2010

Conflict Resolution is good for the body and soul

Sunday I read an interesting article on “conflict.”  Chrystle Fiedler‘s article called “Defusing Conflict” in the Costco Connection made me consider my conflicts and how I am dealing with them.

The dictionary defines conflict as:
  • A state of open, often prolonged fighting; a battle or war.
  • A state of disharmony between incompatible or antithetical persons, ideas, or interests; a clash.
  • Psychology. A psychic struggle, often unconscious, resulting from the opposition or simultaneous functioning of mutually exclusive impulses, desires, or tendencies. 
After reading the definition, it seems that conflict is more a part of my life than I imagined.  This little thing called “acceptance” that I mention several times a month appears to cause an ongoing internal conflict for me.  My desire to remain mobile, helpful, and engaged in certain physical activities is at the center of this conflict.  At times  I feel like Charlton Heston at the NRA convention where he commented, “You can have my gun when you pry it from my cold dead hands.”  Some activities I find almost impossible to give up even though I know I can no longer safely accomplish them.

In an August article (It took being shaken to the foundation of my soul), I wrote, “I have found that it is possible to become so involved in the current stepping-stone (life experience) that it becomes nearly impossible to move forward. “  In other words, if I am unwilling to accept my current situation, I can not move on.  Later in the article I commented, “Several times I took a couple of steps backward trying to recapture a moment in time that I thought was better. The comment, "you can never go back" is so true. Life's experiences are meant to be lived once and never resurrected. There is only one way to move and that is forward.”  There are times, however, I just am not willing to accept the loss of some capability.  Logically, I know I must move on, but boy is it tough to just let go.

conflict -1

Fortunately, my wonderful wife is the rational one in our family.  She only wants to see me safe, healthy and happy.  Unfortunately, I do not always want to be rationale.  She has learned that occasionally she just has to step back and let me make a fool of myself when I become obstinate about trying to do something.  If she believes I am not in danger of hurting myself, she will let me find out for myself.  Either way, she has to listen as my frustrations become verbal in the course of my re-education.  Aren’t wives (and significant others) wonderful!

Ms. Fiedler writes in the article that “people who are in high-conflict situations take longer to heal from infections and disease.”  In a research study presented at the American Psychosomatic Society meeting in 2005, it was shown that couples in conflict-ridden marriages take longer to heal (from all kinds of wounds – physical and emotional) than happily married couples.

Anyone living with Kennedy’s Disease knows that stress is hard on the body.  For some reason it makes us weaker … even wobbly legged.  Stressful situations often takes hours to recover from.  Yet, for some reason, many of us have not learned to manage stressful situations especially ones that we have some degree of control over … for example, a conflict with another person.

A Psychosomatic Medicine Journal in 2005 noted that trying to avoid conflict is not the answer.  The healthier option is to assertively express your point of view.  Laurie Puhn, the author of “Fight Less – Love More” states that “conflict is not only inevitable, it is good.  It means that two people have different perspectives … (and when verbal skills are used effectively) … the relationship will grow.”

Conflict path

Fighting fairly (even with yourself) can be accomplished by applying these four steps.
  1. Sit Down:  Sitting down allows your logical mind to regain control.  It goes back to the “fight or flee” mentality that all of us experienced (instinctually).  Instead of pacing around the room or walking out the door, sit down, take a few deep breaths.  Once you have calmed down, ask the other person to do the same.  [I am a pacer.  When I become upset, the adrenaline flows and I have to move.]
  2. Play Detective:  Find out how the other person thinks and feels by asking questions such as “What do you think just happened?” and “Am I missing something?”  (Note: These questions also work with your ego)  We often make assumptions as to why the other party is acting a certain way.  By asking questions and truly listening to their answers without interruption, you are collecting information.  Stay open-minded, otherwise you will have the same argument again.  [This really works.  If I take the time to find out the other person’s perspective or logic, it is much easier to reach consensus or at least to agree not to agree.]
  3. Show you are Listening:  After you have collected the other person’s information (perspective), summarize what you heard.  For example, “You are saying that because of X, Y and Z.”  Once you gain acceptance that you have heard the other person, you are free to share your perspective.  [It helps to ask after you have summarized what your heard, “Have I understood you correctly?”  If so, it is the first step toward gaining some type of consensus or compromise.”]
  4. Make an Agreement:  The goal of any good fight is not to win, but to agree to do things differently the next time that there is a disagreement, mistake, or problem.  “Research has shown that if you participate in coming up with a solution you are much more likely to comply with it,” says Puhn.  “At the end of a good fight, you feel relief because there is a compromise.”  [There is a wonderful feeling that comes over your body when two people reach consensus or a win/win compromise.  The feeling is relief, but it is also a deactivator and what is causing the adrenaline to flow.]

Dealing with the adrenaline overload is also important.  Conflict triggers adrenaline flow and that makes you even more stressed.  Andra Nedea of the Virtual Tranquilizer recommends the following activities to help lower your adrenaline level and make stress more manageable. 
  • Give yourself time and space:  Adrenaline flooding can make you feel claustrophobic and more anxious.  Take a walk.  Just a few minutes away from the situation will help.
  • Breathe fresh air:  Open a window or step outside.  Fresh air can help chase away that trapped feeling.
  • Play with the kids or the dog:  These two activities will immediately reconnect you with the good things in life.  [This one really works for me.  It is tough to remain angry or frustrated when you have engaged someone that you love in a fun activity.]
I will add one more to Nedea’s list.  Meditation:  It might not seem like it is working at that moment, but the deep breathing while allowing the negative thoughts to drift away really can make a difference.

conflict internal

Even though much of what is written above is directed towards conflicts between two people, several of the suggestions can be applied to that internal conflict that I mentioned earlier.  I actually feel that most of my conflicts begin internally (a struggle with acceptance) and escalate to a conflict with my wife.

"If you have learned how to disagree without being disagreeable, then you have discovered the secret of getting along."  Bernard Meltzer, American Law Professor
How about you?  Do you experience these internal conflicts?  Do they occasionally rise to the surface and become a conflict between you and your wife (or significant other)?

Chrystle Fiedler writes about health topics for many national publications.  For more information on the Virtual Tranquilizer, visit www.conflictunraveled.com.

Sunday, November 28, 2010

A wealth of information is available …

Over the last month I have been helping move articles and information from our current KDA website to our new (under construction) website.  We still have a long way to go, but the new site is coming together nicely.  If we do not run into any major issues, the new site should be up sometime in the first quarter.

KDA website - front page draft

This last week I have been transferring the chat room transcripts.  I found it interesting that we have archived 225 chats.  In the process of moving the transcripts, I had a chance to review many of them.  I knew there was a lot of good information in these chats, but I forgot many of the topics covered and special guests.  Working your way through a chat transcript to dig out information requires a little patience because throughout all the chats are general conversations on a variety of subjects including how someone is doing and what the weather is like in Anchorage and Brazil.  However, if you scan through the chatter to the "good stuff" in these transcripts, you will not be disappointed.

I found that the research updates are very informative and educational.  Having a guest doctor or researcher live on a chat is quite handy when you have a bunch of questions or do not understand some aspect of Kennedy’s Disease or a potential treatment.

KD knows no boundaries

I would be remiss in not thanking several guests who regularly take time out of their Saturday mornings to update us on their research as well as answer questions on a variety of subjects related to Kennedy’s Disease.  To name a few; Doctors Fischbeck, Taylor, Lieberman, Merry, Pennuto, Montie, and Beitel and specialists like Alison LaPean and Angela Hokkinis have been wonderful supporters of the KDA and anyone living with Kennedy’s Disease.

fischbeck 1diane merry   LL-Lieberman

If you have not attended a chat in some time, I would recommend that you check out the chat room transcript archives and glance through ten years of topics and guests.  I am certain you can find something of interest or value.  Also, remember that the chats are the first and third Saturdays of each month at 10:30 Eastern Time.

Thursday, November 25, 2010

Happy Thanksgiving

I am taking the day off and enjoying time with the family.

I hope everyone has a safe, healthy and happy Thanksgiving.


Tuesday, November 23, 2010

Be still and know …

Mary Jaksch of GoodLife Zen had another excellent article this week on “How catastrophe can open a door to a new life.”  It was a guest post by Christopher Foster.  His article brought to mind how those of us living with Kennedy’s Disease must make a transition from who we thought we were to who we now are, and will eventually evolve into.

In the article, Mr. Foster discusses the situations in his life that truly challenged him.  He discussed that these experiences where actually a “doorway to true freedom.”  I found this analogy interesting.  In order to experience (truly live) your life after something terrible happens, you have to be able to close the door on that old life (quit clinging to your past) before you can open the next door (begin living once again).  Mr. Foster commented:

“I have discovered that while external forms inevitably perish somewhere along the way, there is something that does not perish — the timeless peace and happiness that is always with us at the core of our own being.
I’ve discovered there is joy on the other side of despair as I persevere, and open my heart more fully to the beauty and truth that has been calling me for so long.”

This made me consider some of my earlier posts where I discussed the transition that we must all go through in hopes of gaining acceptance for our health issue and its impact on ourselves and our families.  Acceptance is the only way we can move on with our lives.

Mr. Foster went on to explain that even though he wanted to believe that peace and happiness lies within us all, “Somewhere deep down I still believed my security and happiness lay in external things …”  I liken this comment to my thoughts that with the loss of my muscles and capabilities to do physical things that I was less of a man … and no longer whole.


He goes on to explain the six things that he discovered to help him find that inner peace and wholeness.  I have taken excerpts from his findings and included them below along with my thoughts.

1.  Be persistent:  “We come into this world with a unique gift to give that only we can give. Never lose faith in your own destiny — the unique work that is yours to do.”  For me, this includes things like my writing and my blog.  It also means that I can also be a source of inspiration for others including my family, friends and those living with Kennedy’s Disease.  It also means that I still have work to do … that there are still contributions I can make.

2.  Be kind to yourself“… But drastic change is here, whether we like it or not, and it means we must be kind to ourselves and our capacities of mind and body. They are under a lot of pressure and it’s probably going to increase.”  Yes, I have and continue to be going through some drastic changes in my life.  I have to quit beating up on myself and learn to live with “who I am today” … not who I was.  Acceptance of “what is” would help.

3.  Be resilient, and trust:  “When we suffer a serious loss of some kind, it can be hard to keep our trust in life. But have you ever noticed how a tree handles itself when a strong wind begins to blow? …  The branches do not resist what is happening. They simply sway gracefully back and forth until the wind dies, and then they’re still. So it must be for us when tough things happen in our lives. Don’t collapse and give up, but don’t be rigid and try to hang onto the old. Between these two extremes is a middle way that will bring you through whatever trouble may come.”  Forty years ago I heard Buckminster Fuller speak at Cypress College.  It was one of the most inspiring lectures I have ever heard.  He also used the tree in a storm analogy to explain how rigid we build things believing that the stronger the better.  But, ‘mother nature’ creates things that are pliable and give when pressed, but return to their natural state afterwards.  Hanging on … clinging … to the past only causes more stress.  Wishing that I was still who I was thirty years ago is unproductive.  And truthfully, I would not want to be the same person I was back.  In the last thirty-plus years I believe I have grown and evolved and am a far better person.  I need to trust that there is still a purpose for me and accept my current capabilities because the  best is yet to come.

4.  Find a symbol of strength:  “Symbols can be important. I have two prized possessions that represent strength to me, the ability to handle whatever comes up in my life.”  I have my symbols in my office.  They are important to me because they represent something good.  The memories that come with these symbols  cannot be tarnished.  My symbols redirect any negative thoughts to ones of love, acceptance and happiness.

5.  Give thanks for the masterpiece you are:  “Life can sometimes seem hard and difficult. Heck, the traumas that come to us all can seem unbearable at times.  But the truth is that life is not difficult. It is easy, and simple, and very beautiful. But we don’t know this until we are willing to simply be still for a moment – and feel, really feel, the perfection of our own true being that is always with us.  You are a masterpiece. … untouched and untroubled by any of the catastrophes of our lives – just waiting to be revealed in all the little moments of our living.”  Wow, how beautiful is this!  I know that I occasionally look at what I lost (my strength, my perception of manhood, etc.) rather than what I still have (family, friends, health, etc.) and who I am today.  When I take the time to give thanks for all that I have and have experienced, life still looks pretty darn good.

6.  Be still and know:  “Catastrophe has taught me that stillness is not empty at all, but is the very source of wholeness and happiness and wisdom. Stillness is my compass ...”  Yes, taking the time to contemplate, meditate and pray centers me and redirects any negative thoughts to ones of peace, love and thankfulness.  By just taking a moment a few times each day, I realize that “Life is good.”


I wish you a safe, healthy and happy Thanksgiving.  Thanks also for taking the time to read my ramblings and occasionally commenting.  Your readership and thoughts mean a lot.

Sunday, November 21, 2010

Stem Cell Trial for ALS Patients

Last week I wrote about the controversy over stem cell research.  Leon, in the KDA Forum, posted three articles on a neural stem cell trial taking place at Emory University in Atlanta.  Stage 1 started at the beginning of this year.  This initial stage was to determine the safety of the trial.  The safety review board did not find any issues in this initial phase.

stem cell

After receiving a thumbs-up, the trial will now proceed to Stage 2 where researchers will be injecting neural stem cells into the spinal chords of people with ALS.  The stem cells are derived from the spinal chord of a human fetus.  This second stage will inject six patients with ALS that can walk.  Three of the patients will receive five injections into one side of the lumbar area (lower back) of the spinal chord and three more will receive injections in both sides.

A Stage 3 trial is also being planned where participants will receive injections in the cervical area (neck) of the spinal chord.  The trial patients have to go through extensive testing before, during and after the trials.  The patients will also need immunosuppressive medications for the rest of their life to help the body accept the injected stem cells.  More information on the trials can be found at the Emory ALS Research Center.


Fox News in Atlanta published an article on one of the first patients to go through this procedure.  Mr. Conley explains his condition and situation quite well and his hope for the future.

It was interesting to read that the initial research is not expected to bring about any benefit to ALS patients.  It is being used to learn more about the injection procedure and behavior of injected cells.  The goal of this research, however, is to eventually determine whether (1) stem cells can be injected and become functioning nerve cells that will replace the cells damaged or destroyed by ALS, and (2) the injected cells can serve as a support system for the damaged ALS cells thereby keeping them functioning longer.

The researchers noted three major risks with this trial. 
(1) Will the immune system reject the injected cells
(2) Will the immunosuppressive medication cause the patient harm
(3) Will the spinal chord be damaged by the injections


The article ended on a positive note, however, by saying the Stage 1 trials were positive and a needed first step in determining the safety of stem cell injections into the spinal chord.

I will close by bringing this back to the potential benefits of this type therapy for those of us living with Kennedy’s Disease.  One of the issues several researchers have commented on regarding the use of stem cells is how to inject the stem cells into the needed area (the damaged muscle).  If this ALS procedure is safe and effective, it will go a long ways in helping our research in this new and exciting area of medicine.

Thursday, November 18, 2010

This article is the beginning of my complaints about cold weather

Unfortunately, every winter I have to go through a new “acceptance” process.  Learning to live with Kennedy’s Disease is also about learning to live through the winter with this condition.  Yes, I know that “this too will pass.”  In approximately four months I will be relishing the warmer temperatures and my newfound strength.  Until then, I will be doing a lot of mumbling and grumbling.


Temperatures are dropping and my strength is declining with it.  I know, it happens every winter, but it is still somewhat unexpected.  Perhaps I am just hoping that one winter I will not have to experience this phenomenon again. 

My left thumb and index finger are in worse shape this year and it isn’t even winter yet.  My overall strength has also declined over the last month.  How do I know the decline in strength is related to colder temperatures?  Good question.  When the temperatures warmed up a week or so ago to the mid 70s with nights in the 50s, my aches disappeared and my strength was back.  I was completing all of my exercise routines and reps without a problem.  I did not feel chilled once.  It was wonderful.

This week has been cold, windy and wet.  I just can’t seem to get warm, my muscles are aching, and my exercise routine is labored.  I am back to wearing gloves, both inside and out of the house.  I wear socks to bed at night because my feet will not warm up.  My electric blanket runs seven hours straight and it is the only relief from the cold that I can control.


There is something to be said about the benefits of snow.  When I lived in Minnesota, Washington and Pennsylvania and there was snow on the ground, I did not feel as cold as I do today.  I believe the snow captures the moisture in the air and makes for a more comfortable environment.  The cold, damp weather of northern Georgia seems to impact my muscles more.  Perhaps this is just part of the progression of the disease coupled with my age.  Whatever is the cause, I do not like it.  
I have discussed this issue with my neurologist and still do not feel comfortable with the answers I am getting.  It just seems strange to me that temperatures in the low-to-mid 30s would have such an impact on my strength and pain.  Yes, I do spend two hours or more outside each day … walking the dog.  The golf cart has a winter cover that partially protection, but I am still sitting for thirty-plus minutes at a time … sometimes in high winds and rain.

This is just another reason I know that I have not fully accepted this disease.  How about you?  Does the cold bother you more these days?  Do you feel weaker during the winter?  Have you ever received an explanation as to why this happens?  I look forward to hearing from you.  “Misery loves company.”

Tuesday, November 16, 2010

The word is being spread, but far too slowly

At least three or four times a month I receive an email from someone asking for help.  The person is either trying to locate a doctor in their area that is familiar with Kennedy’s Disease or they believe they have been misdiagnosed.  I find it interesting that the person contacting me has done some research on the Internet and matched their symptoms with the condition of Spinal Bulbar Muscular Atrophy (aka, Kennedy’s Disease).  With that information, they contacted the Kennedy’s Disease Association.

Even though information is readily available today, Kennedy’s Disease is still a relatively unknown condition that baffles many a doctor.  My concern is for the patient and family because they are often misdiagnosed or given no diagnosis … meaning more tests.  ALS is still the most common misdiagnosis.  Over twenty years ago my two brothers and I were diagnosed with ALS.  Even though medicine and diagnostic procedures have come a long way in twenty years, Kennedy’s Disease remains that rare disorder that is difficult to initially diagnose even though DNA testing is available and can conclusively determine if you have the mutation.

spread the word

Our role today continues to be the same.  We need to inform doctors of the possibility of Kennedy’s Disease and the availability of the DNA testing.  In 2005, the KDA sent out brochures to over 10,000 neurologists in hopes of spreading the word.  The  informational brochure (PDF format) can be printed and given to your doctor.  Or, you can request that the KDA send you some brochures if you want to give them out.  Either way, we need to spread the word.

Sunday, November 14, 2010

Motivation … How it works

Occasionally I find something interesting enough that I need to share it even though it is off-subject.  Mary Jaksch’s blog, “Goodlife Zen” is a wonderful blog that I have recommended several times.  She is excellent in taking on difficult subjects and explaining them quite well.

motivation 3

Her recent blog, “How Motivation Works,” caught my eye and I was not disappointed.  There are two videos from Daniel Pink explaining how motivation works and what does not appear to work.  The first video is well done because it is animated.  Mr. Pink covers a lot of ground in ten minutes, but you are left with a much clearer understanding of how people are motivated.  The second is an interview with Mr. Pink who further explains his thoughts and the research on the subject.  If you can only watch one video, watch the first one because you will be educated and entertained.


The first video brought out some interesting discoveries on this subject of motivation.  In some ways, it is counter-intuitive and definitely goes against mainstream thinking.  However, it also makes a lot of sense … especially when I recalled my work history and performance.

It was interesting to note that rewards (extrinsic motivation) do not play as important roll in motivating people as we would generally think.  Once people are comfortable with their current compensation, bonuses are less likely to product superior performance.  It then becomes important for management to find the personal motivators … what makes people want to accomplish more and excel at their chosen work.

Flames 2

Mr. Pink explains that there are three main “internal” drivers (intrinsic motivation) that motivate us:
  • Autonomy – self direction, being able to choose your own path
  • Mastery – being able to see progress … improvement in what you are doing
  • Purpose – doing something that really matters … it can make a difference
Please take a moment and at least watch the first video.  You will not be disappointed.  After viewing it, ask yourself, "what motivates you today?"  What keeps you going?  What makes you push harder or walk further knowing that you might fall down?

Thursday, November 11, 2010

The Stem Cell Research Controversy

My niece interviewed me yesterday concerning my take on stem cell research.  She is writing a paper on the ethical aspects of this research.  During our conversation, I decided this would be a good topic for my blog since it is such a controversial subject.

Embryonic stem cell research seems to generate a greater negative response than adult stem cell research. 

Religious beliefs appear to be one of the major reasons against embryonic stem cell research.  I believe the concern is focused more on “pro-life” considerations than anything else since the creation of a human embryonic stem cell line needs the destruction of a human embryo.  For those that believe that human life begins when a sperm cell fertilizes an egg cell to form a single cell, stem cell research violates the sanctity of life and is something akin to murder.  People in this camp also believe there are better alternatives including adult stem cell research.

Stem cell - Ethical_problems

However, researchers that use embryos that were created for, but not used in, in-vitro fertilization argue that many of these cells would be destroyed, so why not use them for research.  In the United States alone, it is estimated that nearly 400,000 of these in-vitro embryos are destroyed each year.  Australia produces over 70,000 a year and most go unused.

Most medical researchers believe that stem cell research has tremendous potential to help us understand and treat diseases as well as help people suffering from certain conditions.  These potential benefits create an even greater urgency among researchers as well as those of us suffering from (or living with) certain diseases or conditions.

stem uses

There is also renewed interest in umbilical cord blood stem cells.  These stem cells could be helpful in treating spinal chord injuries including the potential regeneration of an injured cord.

StemCells-umbilical cord blood

One benefit to stem cell research is the ability of these cells to grow indefinitely in a lab setting.  Another benefit that is being widely publicized today is that these cells can be used to create human tissue (skin, heart, lungs, live, etc.).  I recently saw an ABC News report showing lung tissue and skin tissue being grown in a lab that could be used for organ replacements and also skin grafting for burn victims.

So, the controversy continues with both sides digging further in to their trenches (beliefs).  Adult stem cell research appears to be more of a common ground (more neutral anyway).  Both sides feel more comfortable with this type research.  Fortunately,  significant strides have been made using adult stem cells in recent years.

I, for one, do not feel uncomfortable supporting a properly regulated and monitored stem cell research program.  Of course, I am one of those people with “a dog in the fight.”  I am living with an untreatable condition and have a daughter (and possibly a grandson) that carry the mutated DNA.


How do you feel about this subject?  Are you “for” or “against” stem cell research, in general?  How do you feel about embryonic stem cell research and adult stem cell research?  And, more importantly, why do you feel the way you do?  I look forward to hearing from you.

Tuesday, November 9, 2010

Is patience part of the acceptance process?

The KDA annual conference and educational symposium begins tomorrow in San Diego.  I wish I could have gone, but that length of travel is out of the question these days.  Unfortunately, we lost the heating system in our house yesterday (Brrrr!) and it is a little cool this morning making San Diego sound even more enticing.  The repairmen are here and I hope we will have heat soon.  In the meantime, I am wearing gloves and have a blanket wrapped around me trying to stay warm and keep my fingers operational enough to type this article.
The conference’s agenda looks very interesting this year and I am looking forward to hearing from some of the attendees afterwards.  I believe there are seventeen doctors and researchers attending and their presentations should be very interesting.  I hope the updates on ASC-J9 and IGF-1 will be positive.  They still appear to be the treatments with the most promise.  Dr. Taylor’s update on the recent research into the triggering mechanism for Kennedy’s Disease will also be interesting.  One thing I know for sure, attendees will leave the conference with a new sense of hope and a greater appreciation of what these researchers go through in their attempts to find a treatment for Kennedy’s Disease.

Patience - cat

Even now, with potential clinical trials close at hand, the possibility of a treatment is still at least a couple of years away.  Patience (not an attribute of mine) is difficult as you watch the disease progress.  Earlier in life, you felt there was still plenty of time.  Now days, with the progression at a point where mobility and capabilities are far more limited, another two or three years without a treatment seems daunting.  Yet, hoping, praying and waiting are really the only things we can do.

I asked the question in the header, “Is patience part of the acceptance process?”  As I mentioned, I have never been one to have a lot of patience.  I was a “type A” personality at work believing that, along with a little luck, you created your own breaks, and that sitting back and waiting is not the way to achieve your goals.  Yet, since I am not a researcher, I am forced to sit back and “patiently” wait. 

patience slogan

I did find one thing to help the process move along.  I can make a donation for Kennedy’s Disease research.  KDA research grants support the “front-line” troops (the researchers) helping them move ever closer to finding that needed treatment.

In the meantime, I will sit at my computer accepting that I have this condition and patiently waiting for the news we all want to hear.

Sunday, November 7, 2010

Frequently Asked Questions about Kennedy’s Disease – Part II

Part I of this topic was published Thursday.  If you have other questions concerning Kennedy’s Disease, please let me know by commenting in this blog article or by sending me an email.  If I cannot answer it, I will try to find someone that can. 


Q: How is Kennedy’s Disease diagnosed?
A: Fortunately, there is a simple blood test today that checks a person’s DNA for the defective chromosome. Almost any DNA testing laboratory can perform the test. A doctor or nurse can draw the blood and send it off to the laboratory. Test results are normally returned within three-to-six weeks.

Q: Why is Kennedy’s Disease so often misdiagnosed?
A: Until the 1990’s, there was no specific test for Kennedy’s Disease. The most frequent misdiagnosis has been ALS (Lou Gehrig's Disease).  Other misdiagnoses that some individuals with Kennedy's Disease have received prior to Kennedy's Disease being determined have been: Spinal Muscular Atrophy III - Kugelberg-Welander, Glycogen Storage Disease, Guillian's Barre, Myasthenia Gravis, and Multiple Sclerosis.

Q: Why don’t we hear more about Kennedy’s Disease?
A: Kennedy’s Disease is considered a rare medical disorder. It is estimated that only 1 in 40,000 individuals worldwide have Kennedy's Disease. However, many go misdiagnosed or undiagnosed for years.

Q: Can the disease be passed on to my children?
A: Since the disease is “X” linked, the mother has two “X” chromosomes.  If the mother is the (only) carrier of the defective gene: there is a 50 % chance of passing the affected gene on to male children (in which case, they would develop symptoms in adulthood). The chance of passing the defective gene on to female children is also 50% (in which case, they would be carriers of the gene, but probably never develop actual symptoms).
Since the father has both an “X” and a “Y” chromosome, if the father is the (only) carrier of the defective gene the chances of passing the defective gene to a male child are 0%. However, it is 100 % certain that the gene will be passed on to a female child, and she will be a carrier of the gene.  (Note:  See Inheritance link on KDA website for a chart showing the possibilities)

Q: One of my parents has the defective gene. I have or am considering having children. Should I be tested or should I have my children tested?
A: This is a question that is asked quite often. Some families have even considered prenatal testing. The KDA recommends that if you have this concern, you should consult with a qualified genetic counselor.

Q: I heard someone mention “Dry Drowning.” What is that and do I have to be concerned that this could happen to me?
A: Dry drowning or laryngospasm is a common occurrence for many of with Kennedy’s Disease. It is the result of a spasm in the adductor muscles - the muscles closing or bringing the vocal folds together. Laryngospasm happens when your voice box or the area of the windpipe below the voice box detect the entry of water or another substance. The vocal folds spasm and the airway shuts down. All of us have experienced it when a bug flies down your throat while you were starting to inhale, or you inhale a glass of water. The vocal cords very immediately and very effectively close. That closure is a benefit to protect the airway, but it makes “breathing in”, very difficult. The throat muscles weaken (atrophy) in a person with Kennedy’s Disease. Because of this, it becomes more difficult to swallow or clear the throat. Your can read more about laryngospasm at: Voice Doctor.Net.

Q: I am considering having surgery. Is there any information about Kennedy’s Disease that I should make my doctor or anesthesiologist aware of before hand?
A. Yes, the KDA recommends that you print the information found on our web site and review it with your surgeon. The links and articles provide information and warnings that should be taken into account before surgery.  You can review and print relevant information at the following link: Surgery Information.

Q: My doctor does not seem to be aware of Kennedy’s Disease.  Is there a brochure I can give him or her?
A: A comprehensive easy to read guide on Kennedy's Disease that explains what it is, how it is contracted, what the symptoms are, etc. is available. Click on these links to see the brochure:   KDA Brochure Front         KDA Brochure Back

Thursday, November 4, 2010

Frequently Asked Questions about Kennedy’s Disease – Part I

Today and Sunday’s posts address many questions asked about Kennedy’s Disease.  This information is also part the “welcome packet” that is sent out to those who join the Kennedy’s Disease Association.


Q: What is Kennedy’s Disease?
A: Kennedy's Disease (also known as Spinal Bulbar Muscular Atrophy, SBMA, or Kennedy's Syndrome) is a rare and currently incurable and non-treatable X-linked recessive genetic progressive neuro-muscular disease. Both the spinal and bulbar neurons are affected causing muscle weakness and wasting (atrophy) throughout the body which is most noticeable in the extremities (legs/arms), it is also especially noticeable in the face and throat, and causes speech and swallowing difficulties, along with major muscle cramps as well as other symptoms.

Q: What are some of the symptoms of Kennedy’s Disease?
A: See the following link: KD Symptoms

Q: When do you first start seeing signs of the disease?
A: Generally, symptoms begin to appear in the late 20’s or early 30’s. However, there have been cases where the symptoms showed up as early as the late teens or not until the 60’s. 

Q: Who gets Kennedy’s Disease?
A: Kennedy's Disease is a genetic disease, passed on from generation to generation in a family.  It is an X-linked recessive inherited gene.  Generally males who inherit the gene exhibit symptoms. Females, who inherit the gene, are carriers and may also exhibit symptoms, usually later in life.

Q: Is there a treatment or cure for Kennedy’s Disease?
A: Currently there is no treatment or cure. Recent research, however, show some promising signs. Read about research that is taking place at this link: Research.  (Note:  You can also search this blog for the most current reports on research) 

Q. What causes the muscle cells to die?
A. The direct cause of the muscle cell death is believed to be the death of the nerve cells that control the contraction of the muscle cells. These nerve cells are known as motor neurons. Motor neurons are the cells that connect the brain to the muscle cells. When you wish to contract a muscle to pick up a pencil, for example, your brain sends signals to the motor neurons that control those muscles. The motor neurons then convey the signal to the muscle cells and the muscle cells contract, performing the movement that you envisioned in your brain.

In KD, the motor neurons die and so the connection from the brain to the muscle cells is broken. As a direct result of the loss of the motor neuron, the muscle cells die as well. Whenever muscle cells lose their motor neuron, they will usually die. It is generally thought that KD does not directly cause the muscle cells to die although there is some recent evidence that KD may result in some changes in the muscle.

Q. What causes the motor neurons to die?
A: This is the million dollar question. The straight answer is that we really do not know for sure. There is a lot of evidence that the motor neuron cell death may be due to the inability of the cell from KD patients to adequately recycle proteins and this results in the build up of old, trashy proteins. This build up of trash is believed to somehow be toxic to the cell.  (Note:  See Dr. Taylor’s research article in this blog for the most current assessment of what happens)

Q. Why can’t the cell recycle proteins?
A: KD is a genetic disease – this means that KD patients have a defective gene. The function of genes is to tell the cell how to make a specific protein and a cell can only make proteins for which there is a gene. For example, we all have a gene to tell our cells how to make hemoglobin, the protein that carries oxygen in our blood. Without that gene, our cells would not be able to make any hemoglobin. Since we need hemoglobin to live, such an individual would never even be born. However, occasionally, a gene for a specific protein may be changed so that the cells would make an altered form of the protein. This altered protein may still work, but possibly not as well. This is what happens in sickle cell anemia. The hemoglobin gene has been altered and the hemoglobin made does not work as well.

Since KD is a genetic disease, patients with KD must have an altered gene. The gene that is altered is the one that tells the cells how to make the protein known as the androgen receptor (AR). The normal function of the AR is to mediate the actions of testosterone. Without the AR, testosterone would have no effect on a cell. In men with KD, the AR that is made is altered. It still works but sometimes not as well. The current thinking is that the problem with those with KD, however, is that the altered AR cannot be removed by the cell.
Typically, once used, the AR is destroyed by the cell. This is done by processes that help remove all proteins. Even worse, when the cell tries to remove the AR, the altered form of AR jams up these cellular processes preventing the cells from removing any proteins. Apparently, the nerve cell must be able to remove proteins to survive, so the overall effect of the jamming is to kill the cells. Much of the research on KD right now involves investigating ways to ‘un-jam’ these protein removal mechanisms and prevent the death of the cell.

Tuesday, November 2, 2010

The dirty, nasty, sinister side of Kennedy’s Disease

Yesterday I received the following comment from Mike. 

“Thanks for your inspiration Bruce. I have 'enjoyed' an 'arrested' degeneration for the last couple of years and unfortunately got my hopes up that I wasn't going to get any worse. Unfortunately, I have begun to get worse again. While the last few years I was able to get around pretty well with just a cane (a few hundreds yards between rests) I'm now finding it difficult to go 50 feet. I've also had to finally put a seat in my shower and use my power chair more than before. Just when I started to really feel sorry for myself, I found your blog and your writing has given me a renewed sense of 'worth' that is so helpful in coping with KD. Thank you and keep up the great work.”


As soon as I read Mike’s comment, I knew that my next blog topic would address the dirty, nasty, sinister side of Kennedy’s Disease. That is, by the time you get comfortable with your current state of progression, you are once again challenged.  This is also a reason I regularly write about my ongoing battle with “acceptance.”

In the upper right column of this page is a brief explanation of where I am in my journey.  "Life is a succession of lessons which must be lived to be understood."  … Each step (challenge) is a life-experience and I must come to terms with that experience (regain my balance … accept my new current condition) before being able to take the next step (move on with my life). It is a slow and often challenging journey, but I am finding it very fulfilling.  "Acceptance" is what I am working on today. For without it, I will never be able to take the next step. 

At times, it almost seems like Kennedy’s Disease is a sentient being that loves to play tricks on me.  Unfortunately, it is all tricks and there are no treats.  Let me explain what I mean. 

I wonder how many times over the years I have said to myself , “Okay, I can live with this”?  Yes, ACCEPTANCE … whew, I finally made it.  Then, “WHAM!” it pulls the rug out from beneath my feet and gives me another new challenge to contend with.  It almost seems like this entity (Kennedy’s Disease) is lurking in the background, watching and waiting for me to finally come to terms with my latest and greatest loss of capabilities before launching itself at me once again.

Unfortunately, there is nothing I can do about it.  I have to pick myself up, dust myself off, and begin working on “acceptance” all over again. 
  • Frustrating … you bet! 
  • Discouraging … yes! 
  • Inevitable … without a doubt, yes! 
This ongoing battle is just another part of the process of “learning to live with Kennedy’s Disease.” 

So, my journey continues …