Creatine Monohydrate Trial

I found this report on a trial conducted in 2014 and 15. I searched for the final analysis and can’t locate it. Perhaps you will have better luck than me. If so, let me know.

Treatment with Creatine Monohydrate in Spinal and Bulbar Muscular Atrophy: Protocol for a Randomized, Double-Blind, Placebo-Controlled Trial

Yasuhiro Hijikata, MD, PhD, Masahisa Katsuno, MD, PhD, Keisuke Suzuki, MD, PhD, Atsushi Hashizume, MD, PhD, Amane Araki, MD, PhD, Shinichiro Yamada, MD, PhD, Tomonori Inagaki, MD, Daisuke Ito, MD, Akihiro Hirakawa, PhD, Fumie Kinoshita, MSc, Masahiko Gosho, PhD, and Gen Sobue, MD, PhD

Background

Although spinal and bulbar muscular atrophy (SBMA) has been classified as a motor neuron disease, several reports have indicated the primary involvement of skeletal muscle in the pathogenesis of this devastating disease. Recent studies reported decreased intramuscular creatine levels in skeletal muscles in both patients with SBMA and transgenic mouse models of SBMA, which appears to contribute to muscle weakness.

Objective

The present study aimed to examine the efficacy and safety of oral creatine supplementation to improve motor function in patients with SBMA.

Results

Participant enrollment in the trial started from June 2014 and follow-up was completed in July 2015. The study is currently being analyzed.

Forming Good Habits

Living with Kennedy's Disease and its progression is never easy, but I try to make it as comfortable as possible by eliminating bad habits and creating good ones.

Often, someone mentions he or she is not as disciplined as I am. The person wishes they could find the time to exercise regularly … or quit smoking … or lose weight … or meditate … whatever. My standard response is, “If I didn’t believe it helped, I probably wouldn’t do it.” 

I find it easier to maintain a habit when I see or feel results. In the case of exercising every day, I see and feel the results. When it comes to eating healthier foods, I feel the results.

Just as important, I find it easier to change a negative habit when I can see or feel the results. For example, I quit smoking over 40 years ago because I saw and felt the negative aspects of what smoking three packs a day had upon my life and my family. I quit ‘one cigarette at a time’.
 

When I begin to change a habit, I often do not see or feel the beneficial results initially. At that point, I am working on faith. I believe the change will be positive in some way. For example, a few years ago I gave up eating ice cream every day. I had been indulging in this habit for over 50 years. My belief was that I would generate less phlegm by eliminating this milk product from my diet.

I did not initially say, “I will never eat ice cream again.” I told myself each time I wanted ice cream that I would wait an hour and if I still wanted it then, I would have a bowl.” Guess what? In an hour, I was doing something else and did not even think about it.

After a few weeks, there was a noticeable reduction in thick phlegm. In the last couple of years, I have given up or greatly reduced phlegm-generating products. 

 

I continue to do every habit, no matter what it is, one day at a time. If I ever feel an overpowering desire to break a habit, I will do it after I have waited an hour.

SBMA Study published regarding the AR113Q Muscle

This research paper was published a month ago.

Rescue of metabolic alterations in AR113Q skeletal muscle by peripheral androgen receptor gene silencing

Elisa Giorgetti, Zhigang Yu, Jason P. Chua, Ryosuke Shimamura, Lili Zhao, Fan Zhu, Sriram Venneti, Maria Pennuto, Yuanfang Guan, Gene Hung, and Andrew P. Lieberman1,

Highlights

•Decreased expression of carbohydrate metabolic genes characterizes AR113Q muscle
•AR113Q skeletal muscle shows decreased glycolysis and altered mitochondria
•Peripheral gene silencing by ASO rescues expression of muscle energy metabolism genes
•Altered muscle energy utilization contributes to non-neuronal disease manifestations

Summary

Spinal and bulbar muscular atrophy (SBMA), a progressive degenerative disorder, is caused by a CAG/glutamine expansion in the androgen receptor (polyQ AR). Recent studies demonstrate that skeletal muscle is an important site of toxicity that contributes to the SBMA phenotype. Here, we sought to identify critical pathways altered in muscle that underlie disease manifestations in AR113Q mice. This led to the unanticipated identification of gene expression changes affecting regulators of carbohydrate metabolism, similar to those triggered by denervation. AR113Q muscle exhibits diminished glycolysis, altered mitochondria, and an impaired response to exercise. Strikingly, the expression of genes regulating muscle energy metabolism is rescued following peripheral polyQ AR gene silencing by antisense oligonucleotides (ASO), a therapeutic strategy that alleviates disease. Our data establish the occurrence of a metabolic imbalance in SBMA muscle triggered by peripheral expression of the polyQ AR and indicate that alterations in energy utilization contribute to non-neuronal disease manifestations.

You are not alone

There are times when we all have felt alone.  Some of the reasons we can feel that way are:

• When we are harboring a secret … something we do not feel comfortable sharing even with loved ones. 
• Or, when we have lost someone or something important to us and believe no one can truly understand what that loss means.
• It also can happen when we do not feel like we fit in with a crowd or group of people. 
• And, it can happen when we are hoping for a call or for someone to reach out to you, but we refuse to take the first step and make the call our self.

No matter what the reason, feeling alone is often unbearable and is not healthy. 

Several times a year I hear from someone who recently was diagnosed with Kennedy’s Disease.  The person feels alone – isolated from family and friends.  They do not want to hurt their loved ones by showing they are vulnerable … that this worries them … and that they are afraid. 

They carry the burden of what is happening to their body like a “scarlet letter”.  They also try to protect their family and friends by holding back.  They feel they should be able to “suck it up” (handle it).



Yet, by locking themselves away from their loved ones, they do more damage than good.  Even worse, wife or the significant other, family (especially the children), and friends also feel isolated because they also have a need to ‘talk it out’ …

• They want to understand how you are doing. 
• They also need to share that they are there for you … willing to help in any way possible.
• And, they want you to know that they will always love you, no matter what happens.

Even if we believe the above, we still cannot always breach the subject.  We have always been there for others, but all of a sudden we are ‘one of the others’.  It was okay to be that shoulder to cry on or the listener when someone needed to talk.  But, for some reason we feel uncomfortable switching positions.  Why is that?

One of the most beautiful and reassuring moments is when you can finally open up and let it all out knowing that you are not being judged.  When you experience that moment, it is such a relief.  You finally feel that it is okay … they understand … they are there for me … and most importantly, you are not alone.

My only question for you is, “What are you waiting for?”  

P.S.  If you feel isolated or alone, let me know.  I will try to help.  I was there once; standing right beside you. 

The new KDA website; We are getting close to publishing …

My focus the last several months has been in supporting our web site designer as she develops our new website.  Except for a couple of setbacks by our service provider, we have made great progress.  We hope to be publishing the new site in February.

I thought I would take a moment today and show you some of the new looks you will see once the site is up and running.

This is the new home page.  The sub-sections are now divided into articles focused around the KDA’s mission statement as well as “What is Kennedy’s Disease”, “Help us find a cure”, and “About the KDA”.



The lead page in the “What is Kennedy’s Disease” looks like this.  Down the left side is the menu showing all the categories and articles you can access in this section.



This is a picture of the “Promote Research” lead page.



Below is the right portion of the “Provide Support” section lead page.



The right portion of the “Share Information” section looks like this.



The right portion of the “Worldwide Contacts” is shown below.



The right portion of the “Frequently Asked Questions about Kennedy’s Disease” looks like this.



As you can tell, I am excited about this new website.  It is using current technology and will allow us to do things our original website would not allow because of the proprietary coding that was used.

Why do some carriers have symptoms?

Normally, women that have the defective gene that causes Kennedy’s Disease are only carriers.  However, we occasionally hear about a carrier experiencing some symptoms … usually later in life.  Hand tremors, weakness in the legs, and difficulty swallowing are the most common symptoms exhibited.

X-inactivation or Lyonization

Tuesday, in our KDA Forum, Dan posted a comment that provided a possible explanation.

“I found a reference to another reason why women can have SBMA symptoms. As you may know, women have two X-chromosomes. There is a natural process by which one X-chromosome can be "turned off" or inactivated. The process is called "X-inactivation" or "lyonization." 
So, assuming the woman carrier had two X-chromosomes, one with the SBMA gene and second one without, and then the second X-chromosome became inactivated, then the first one with the SBMA gene would be more likely to be expressed. 

Here's a quotation from Wikipedia:
"X-inactivation (also called lyonization) is a process by which one of the two copies of the X chromosome present in female mammals is inactivated....The choice of which X chromosome will be inactivated is random in placental mammals such as mice and humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism."

Nucleus of a female cell. Top-left: Both X-chromosomes are detected, by FISH. Bottom-left: The same nucleus stained with a DNA stain (DAPI). The Barr body is indicated by the arrow, it identifies the inactive X (Xi).










The article that Dan references can be found in Wikipedia.  I read the article and it was interesting.

Testosterone

Ed, our resident biology professor, responded to Dan’s finding with the following:

“I am not sure if the X inactivation is the cause of the appearance of symptoms in females. There have been several cases in which both X chromosomes in women are the SBMA form of the gene (this is known as homozygous for SBMA) and these individuals do not show the symptoms as men do and are not really different from women who are simply carriers ( these are heterozygous). 

This paper was referenced in the post by Dan on this thread, I think the main reason women tend to have few symptoms is due to the low levels of testosterone. Since women do have testosterone, albeit low levels, it is possible that even these low levels of testosterone can lead to some of the minor (compared to men) symptoms. Still, I do not know of any report in which a woman has had the severity of symptoms seen in men.”



So the jury is still out on this question.  In my opinion, Ed is correct about testosterone being the main factor in causing the severity of the symptoms.  Yet, the “X-inactivation” factor is interesting also. 

What do you think is the cause?

Protecting yourself around the house

You have heard of “child-proofing” your home.  Well, as Kennedy’s Disease progresses, you need to consider how to make your home safer to live in while you are still mobile.  Since most falls occur when we are stepping up or down, turning, twisting, reaching or bending, it is important to perform a “walk-through” of the house looking at every room to determine potential safety concerns/hazards.

Below is a list of things to consider.  Many modifications can be made for little or no cost. 

• Add handrails:  Add a second handrail to any steps.  The leverage can make all the difference in the world for safety and navigation.

• Add entranceway grab bars:  Add grab bars on both sides of the door going into the house from the garage if you have more than one step to navigate.  Many falls occur as you are entering or exiting the house.
  
• Remove throw rugs:  Tape down or remove them.
  
• Replace other rugs:  Replace rugs, if needed, with the non-skid type especially in front of any stairs.
  
• Secure electrical cords:  Tape down or remove/reroute electrical cords that might be a tripping hazard.
  
• Add rug strips to stairs:  If your stairs are not carpeted, consider adding non-skid rug strips on each step.
  
• Add grab bars to bathrooms:  Add grab bars near the shower, tub, and toilet to help you sit down, get up and safely stand. 

• Add shower/tub grab bars:  Add grab bars to the interior of your shower or around the tub.  Removable suction grab bars often work quite well and can be taken on trips.
  
• Make shower/tub surfaces safer:  Make certain you have skid-free surfaces on the floor or a high quality bath mat.
  
• Add a shower/tub stool:  Slip-free shower and bath stools with adjustable height legs make for easier and safer bathing.
  
• Change out the shower/tub hardware:  Add a hand-held nozzle for easier rinsing from the seated position.
  
• Raise the height of the chairs:  Add raisers to the legs of the chairs and sofa you use.  They can be as simple as 2x4 or 4x4s inserted under the legs.  When this no longer works, consider using an uplift-seat or go all the way and buy a chair than can lift you to an upright position before exiting.
  
• Use dining room chairs with arms:  Or, use sturdy pillows/cushion or an up-lift seat.
  
• Raise the bed height:  Add raisers to the legs of your bed to make it easier and safer to get up.  Most bedding stores have these raisers for sale.
  
• Raise the height of the commode:  Install a handicap commode.  It can raise the height of the seat by 2-4 inches.  If that will not help, use an elevated seat (“tallette” device) to increase the height of the seat 4-6” and it is portable.  If that does not work, consider a seat-lift device.  If possible, add arms to the device to get better push off.
  
• Add stools:  In the garage, nook, or hobby room add stools to make it easier to work and get up afterwards.  Stools with a swivel seat are especially nice in work areas.
  
• Improve lighting:  Some hallways or rooms are darker than others.  Add lights or increased wattage bulbs in these rooms.
  
• Get rid of clutter:  Over time certain rooms collect things (clutter) that could become a tripping hazard.  Make a point of picking up or moving aside potential hazards such as newspapers on the floor, a foot stool in a traffic area, a small table in a hallway, etc.

• Rearrange your stuff:  In the garage, nook, kitchen, and bathroom rearrange the shelves, cupboards and tables to make it easier to reach items you use regularly.
  
• Invest in a reacher-grabber:  Many falls occur when we lose our balance while trying to pick something up from the floor.  These reachers are great for picking up many things.

And, most importantly, do not be afraid to ask for help.  There are resources available.  County services and some independent companies will perform assessments and can also provide recommendations and information on needed modifications.  Also consider contacting your regional MDA office for assistance.  Most MDA offices have a “loaner locker” of home aides that could help you determine what would work best before performing modifications or purchasing something.

Three keys:  (1)  In your walk-through, look for “potential” hazards or conditions that might cause a trip, a fall, or an unsafe situation.  (2)  Consider “worst case” scenarios and then consider intermediate and long-term options.  (3)  If you are not already exercising, begin a program that will help maintain your mobility.

The above list is a lot to consider, but it is not everything.  I would appreciate your thoughts to additions to this list. 

Not every health issue is related to Kennedy’s Disease

If you are a frequent reader of this blog, you have heard me mention, “Just because you have Kennedy’s Disease does not mean you are immune to other health issues.”

Colon and prostate cancer probably have the same stigma associated with them.  They are both topics that you do not want to even think about, let alone discuss.  Yet, they are two topics that you need to discuss with your family doctor regularly as you age.

PROSTATE CANCER  



Prostate cancer is the second most common cause of cancer-related deaths in men.  It is estimated that one in six men will be diagnosed with prostrate cancer sometime in their life.  Anyone substantially overweight also increase the potential of having serious prostrate cancer issues.

Fortunately, most prostate cancers are slow-growth, but it is still something that needs to be checked for especially if a father or brother has been diagnosed with this health issue in the past.  Early detection and treatment is important.  Treatment options vary depending upon the age and health of the patient.



Unfortunately, detecting prostrate cancer early can be difficult.  The PSA (prostate specific androgen) test is a simple blood test that can be administered by your doctor.  It is helpful in determining potential issues with the prostrate if checked at least annually in men in their 50s and 60s.  If there is a history of prostate cancer in the family, your doctor might recommend starting PSA testing earlier.  The PSA test is not exact, however.  There are often false-positives due to non-cancer related elevations in PSA levels.  Yet, it can be a ‘red flag’ that tells your doctor that further testing might be necessary.

As men age, the prostate naturally enlarges.  This also means that the PSA levels increase.  That is why it is important to have annual PSA tests so that your doctor can track any trends in PSA elevation.  Sudden spikes in PSA levels could mean trouble.  If warranted, your doctor might recommend a digital rectal examination that would include a biopsy.



EAT YOUR VEGIES

Doctors and dieticians for years have recommended the following foods to help reduce your risk.

• Tomatoes
• Broccoli, cabbage, brussels sprouts, cauliflower, arugula, bok choy, collards, kale, mustard greens, rutabaga, turnip greens, and watercress.
• Soy base products (a protein substitute)
• Anything with a good supply of vitamins A, D, and E
• Salmon
• Walnuts
• Red wine (small quantity)
• Dark chocolate (small quantity)

Doctors also recommend that you reduce your red meat intake and begin a regular physical exercise program.  Not only do these two help keep your weight manageable, but they can also be good for your heart, lungs, muscles, motor neurons, etc.

The Key:  EARLY DETECTION

If you are middle-aged, do not wait to discuss this potential health issue with your doctor.  He can help determine when to begin testing.

For more information, go to the Prostate Cancer Foundation’s website (www.pcf.org).  Other good resources for information include the American Prostate Society (www.ameripros.org) and the American Cancer Society (www.cancer.org).

Sleep Apnea – Getting a Good Night’s Rest

WikiPedia defines sleep apnea as a sleep disorder characterized by abnormal pauses in breathing or instances of abnormally low breathing, during sleep. Each pause in breathing, called an apnea, can last from a few seconds to minutes, and may occur 5 to 30 times or more an hour.


A few years ago I hosted a chat room discussion on sleep apnea.  My guest was Dave Hargett,  Sleep Activist Coordinator for A.W.A.K.E.  At the time, several men living with Kennedy’s Disease had mentioned that they had been diagnosed with sleep apnea.  The question foremost in their minds was whether Kennedy’s Disease caused sleep apnea.  The answer was, “No,” but he did say that sleep apnea is very prevalent in our society today.  Mr. Hargett recommended that anyone who felt they were having problems sleeping at night should check out their website at sleepapnea.org.  He also cautioned that anyone concerned should contact a medical professional to receive a diagnoses for any possible sleep related issues.

 

The concerns of those experiencing sleep disorders, and especially if it is sleep apnea, is the potential of experiencing memory problems, headaches, high blood pressure, weight gain, and increased risk of heart attack or stroke.  Mr. Hargett also mentioned that it could affect your work.



There is also another issue.  It concerns your spouse’s ability to get a good night’s sleep because you are snoring loudly and/or waking up periodically gasping for air. 

A qualified medical professional can recommend a sleep-disorder specialist.  If needed, the doctor will recommend a sleep study either in your home or in a controlled laboratory.  If sleep apnea is confirmed, there are several potential treatments depending upon the severity of the issue. 

• Changing body position:  Many people have worse symptoms because they sleep on their back.  By sleeping on your side you might be able to reduce or eliminate your snoring.
  
• Dental jaw advancement appliance:  These are custom made devices that are inserted in the person’s mouth at bedtime to open the airway by pulling the jaw forward.
  
• Surgery:  Children have their tonsils or adenoids removed and adults can have excess tissue removed (a result of aging).  Unfortunately, surgery is not often very effective in treating sleep apnea.
  
• CPAP:  A “continuous positive airway pressure” device is the best treatment.  The machine blows air at a set and regular interval into your airway.  The device keeps your airway from closing.  CPAP devices have not always been comfortable, but modern technology including a nasal pillow have helped make the adjustment easier. 

Again, the key for those having difficulty sleeping, or the spouse is having difficulty sleeping because of your snoring, is to be properly diagnosed by a qualified professional. 

Fortunately, I do not have sleep apnea, but I do have some problems sleeping.  Because of some blockage in the nasal cavity and since I am a “back sleeper,” I use nasal strips every night .  They make all the difference in the world to my sleep quality. 



I know of several men that use CPAP devices today.  The have commented that the masks took some time getting used to, but they now swear by them.  Do you have sleep apnea or have you used a CPAP device?  If so, leave a comment so others can learn from your experiences.

Veterans with Kennedy’s Disease

The KDA received a question the other day from a man with Kennedy’s Disease who lives in Canada.  He had been in the military for twenty-two years.  During this time, he began to show symptoms that were initially diagnosed as Parkinson’s Disease.  Later they said that he was just “out-of-shape” and forced him to perform extra physical training.  This increased physical activity caused the symptoms to accelerate and he was eventually excused from all physical activities.  Somewhere along this timeline he was diagnosed with ALS.  He eventually found the KDA website and was finally diagnosed with Kennedy’s Disease.


Recently, the retired serviceman saw that a veteran could receive benefits if the person had ALS.  Unfortunately, there are no provisions for Kennedy’s Disease.  The man asked two questions.  (1) If we knew of anyone that was retired from the service that had Kennedy’s Disease?  (2) Is there any connection between ALS and Kennedy’s Disease.  The man feels that if he can prove a connection, he might be eligible for benefits.



Unfortunately, I was not aware of anyone who had served in the Canadian military that had Kennedy’s Disease.  That is information that is not asked for when someone joins the KDA.

I also mentioned that since ALS is the primary misdiagnosis for those of us living with Kennedy's Disease, the link (between the two), in my opinion, between the two is very strong.  I can easily say that 50-70% of us are originally misdiagnosed with ALS.  I have always called Kennedy's Disease the “poor man's ALS” because our progression is slower and life expectancy is close to normal.

ALS affects the upper motor neurons, while Kennedy's Disease affects the lower motor neurons.  However, many of the symptoms are closely related and that is why it is often misdiagnosed.  (Note: It wasn’t until the late 1990s that a conclusive test was made available for Kennedy’s Disease)

I believe this might be an opportunity, however, … something that he needs to investigate with the Veterans Administration.  There might even be a veterans association that can provide some advice and counsel.  They might also be able to recommend an attorney that has experience with these type issues.  This could open the door for several men living with Kennedy’s Disease to receive veterans' benefits should it be approved.

Most often, these matters are only resolved after much pushing and prodding by those impacted by the condition.  If you are aware of anyone with Kennedy’s Disease that is retired or forced to leave the military because of this condition, please let me know.  I would like to make contact with them and look into the potential opportunity of adding Kennedy’s Disease to the V.A.’s list of health issues where benefits are available.  Thank you.

A Different Kind of Christmas

We were snowed in yesterday and could not make it to Marietta to celebrate Christmas with our family.  Today is very cold and everything froze solid during the night.

One positive note about this snowfall is that it is beautiful.  It stuck to the trees and made for a “white Christmas.”  This is the most snow we have had since we moved hear eight years ago.  It just had to come on Christmas.



I have mentioned the joys of living on top of a tall hill in the woods overlooking a lake.  This, however, is the one negative.  We do not have any road maintenance services.  If the road or driveway freezes over, we are locked in until it melts.

Since we both enjoy spending the holidays with the family, not being able to be with them was tough.  We also felt bad because my mother-in-law made a huge meal and several of us could not be there to “break bread” together.

On the other hand, our beagle, Fred, has been enjoying himself.  The snow was a playground for him.  We gave him a rawhide bone (a Christmas present from a neighbor) and he spent an hour burying it in the woods.  When we finally called him, he came bounding through the snow about as happy as I have seen him.  He will have fun over the next few days digging up and reburying the bone.

Since I can no longer walk very far and not at all on ice or slippery surfaces, I am spending my time inside instead of playing in the snow with Fred.  My wheelchair does not operate very well on ice either.  Unfortunately, my wife had the arduous task of shoveling the driveway before it froze solid.  She is a little stiff today.  She always amazes me though.  I am one lucky man.



Skype came through, however.  My daughter and her family called and it was nice seeing them and getting a tour of their decorated house.  We also had a couple of video calls with other family members.  So, even though we could not be together physically, we were still together.



Yes, we were disappointed yesterday, but we still have much to be thankful for.  We have our health and were safely sitting at home while others were stranded on the roads away from home.

My wife and I also discussed what was happening in California.  So many people had their homes destroyed or buried in mud.  We cannot imagine how difficult it must be to lose everything.  It just proves, no matter how bad you think you have it, someone always seems have it worse.

Stay warm and safe this holiday season.

Happy Holidays

I had my annual checkup yesterday and first indications are that this old body is good for another 30,000 miles.  My doctor likes my attitude of “taking one day at a time.”  He also felt my philosophy of “this too will pass” probably keeps my blood pressure in line.

Like many of you, Christmas is an important occasion for our family.  There should be twenty-plus in Marietta Christmas day if the weather holds up.  We have a new member of the clan (a great niece was born Tuesday) to welcome into the fold and be thankful for.  Our health and happiness is the best gift we are given each year.  Well, that and the “white elephant” gifts we exchange.  :-)

Thank you for reading my blog.  You cannot imagine how nice it is to know that so many have enjoyed and occasionally benefited from my personal stories, helpful hints, research updates, and thoughts about life.   I never thought an old windbag (my wife’s thoughts on my verbosity) like me would ever command such loyalty from my readers.

From our house to yours …

We hope you and yours have a

safe, healthy and happy 2011

My Bucket List

Did you ever see the film, “The Bucket List”?  The main plot follows two terminally ill men (Jack Nicholson and Morgan Freeman) on a road trip with a wish list of things to do before they "kick the bucket."



While watching the Survivor season finale Sunday evening, I mentioned to my wife that I would never want to be a contestant on this show.  Don’t get me wrong, I have spent my share of time camping, hiking, climbing, competing, and even surviving in my life.  It is just that spending 39 days competing against others where lying, cheating, stealing, and throwing others under the bus is not my idea of fun.

You know how one thought leads to another, completely different thought.  Well, that is what happened.  I began reliving several highlights in my life (and there were many, thankfully).  These experiences let to other thoughts and some regrets.



This is where my “bucket list” came into play.  No, I am not going to kick the bucket soon (I hope anyway).  Yet, I can not longer do any of the following, but I sure wish I would have while I was still able.

• Hike to the northern beaches of the Baby Grand Canyon in Kauai.
  
• Scuba dive off the Great Barrier Reef in Australia.
  
• Hike the Denali National Park in Alaska.
  
• Whitewater raft through the Grand Canyon.
  
• Visit the Great Pyramid of Giza in Egypt and tour the inner chambers.

All of these adventures were achievable when I was younger, but they were not a priority at the time.  My career was my #2 priority (coming in right after my family).  Often, our adventures were closely linked (a side trip) to some business trip I was on.  These side trips were great because they were wonderful adventures with my wife.

Then, I woke up one day and realized I was no longer physically capable of doing any of these things.  Yes, there are some compromise trips that are still available, but they do not interest me.  The joy would have come from the combined physical, intellectual and emotional aspects of the adventures mentioned above … not just being a tourist.

Where am I going with this article?  

If you are reading this and are still able to physically get around (early onset), make a “bucket list”.  Prioritize your list and make certain each adventure is important to you.  Then, begin to check them off.  The list does not have to be made up of expensive trips.  The idea behind the "bucket list" is to not put off things that would make a difference in your life (fulfill a dream or inspire you to do even greater things).  Just ask yourself, "What have I always wanted to do?" and go from there.

Do not wait until you are in your 60s and find yourself singing, “Regrets, I’ve had a few …”  (Frank Sinatra’s song, “My Way”)

Become your own medical advocate

In Saturday’s chat room we discussed what it means to become an advocate for your own health.

The dictionary defines an advocate as …

1. One that pleads the cause of another; specifically : one that pleads the cause of another before a judicial court
   
2. One that defends or maintains a cause or proposal
   
3. One that supports or promotes the interests of another 

In this morning’s article I am asking you to become your own advocate when it comes to medical decisions.  Far too often we find ourselves following the advice or decisions of our doctors without being given a chance to contribute our thoughts and concerns and be a part of the decision making process.

There are several forms of advocacy including the carrying of a wallet card or bracelet identifying yourself as a person with Kennedy’s Disease.  My focus today is on your responsibility to discuss potential health issues with your doctors, including the anesthesiologist, before any elective surgery.



Examples of advocacy with two different surgeries

In recent weeks I heard of two cases where men with Kennedy’s Disease had medical procedures requiring anesthesia.  One was a case where the doctors did not have time to consult with the patient and were prepared to move ahead without fully understanding the risks associated with a person having this medical condition.  The other was the complete opposite.  The doctor took the time to read the information provided on the KDA website regarding anesthesia and pre-post op concerns.

In the first case, the patient and his spouse had to strongly impress upon the staff their concerns even when the doctor was too busy to take the time to review and discuss the patient’s condition.  In the second case, the patient and his wife felt very comfortable with their doctor’s understanding of Kennedy’s Disease and any potential surgery risks.



No experience with Kennedy’s Disease

A few years ago when I broke my tibia and fibula, the nurses were ready to wheel me into surgery when I spoke up about my concerns.  My wife gave the anesthesiologist printed copies of three articles on the KDA website about Kennedy’s Disease.  Two of the articles outlined concerns with certain types of anesthesia as well as keeping me warm during the surgery and the head elevated afterward.  After the doctor read the articles and consulted with my Orthopedic Surgeon, they decided to forego the surgery and went with a fixed cast.  When I asked why, my doctor said that the anesthesiologist did not feel comfortable moving ahead with the surgery until he understood more about the disease and concerns with the types of anesthesia to use.  Personally, I was thankful that he was honest enough to come up with that decision rather than just forge ahead with the surgery.

Fortunately, I have had several doctors through the years that have excellent “bedside manners.”  They present options and recommend what they feel would be the best course of action.  They also listen to my concerns and my wishes.  The conversations have become discussions occasionally, but by doing so, we arrive at an agreed upon decision.

Another example of advocacy happened while we lived in Pennsylvania.  I refused a certain treatment because of my concerns even when my doctor and the hospital highly recommended (strongly emphasized the need for) the procedure.  I had to sign two release forms before the hospital would allow me to leave.  In a follow-up visit with my doctor, he applauded my decision and said it was the right one to make considering the options available.

I am not advocating that you refuse needed procedures.  What I am saying is that you have the right to know all of the options including any risks, and a responsibility to educate the doctors on potential issues with regards to your health condition.

Do not be afraid to speak up

In some ways, being an advocate is similar to the marriage ceremony where the presiding official asks, “Speak now or forever hold your peace.”  You need to speak up and you need to make certain you are heard.  The decisions made should be mutually agreed upon once all parties understand the potential risks and benefits for the treatment recommended.



Are you an advocate?

Fears versus Reality

It is sneaky.  It creeps up on you during the prime of your life.  You initially deny its existence, but it just will not go away.  You begin to make excuses for your inability to do certain things, but something inside tells you “there is something wrong.”

Then, when you finally admit that you might have it, fears work their way into your daily thoughts.  You begin to imagine the worst.  And, because the disease is not well known, you have no idea what to expect.   All you know is whatever is happening cannot be good.

As the disease progresses, you begin to pray for a miracle, or at least a treatment.  You begin to worry about your family’s future.  You wonder if you will have to retire early?  And, if you do, what does that mean for the family’s financial wellbeing?

Little things begin to nag at you like who will mow the lawn or do the home repairs?  Can we afford to send our children to college?  The concerns never stop, and, they continually grow in number as your strength fades.

Your friends and family notice your concern and want to help … but there is nothing anyone can do except hope and pray.



The reality is that the disease does progress.  Fortunately, it progresses slowly.  There are also brief periods of stability (the plateaus).  These periods are something you look forward to because they give you time to adjust (to accept) your current condition.  Unfortunately, you are never truly prepared for the next progression (another slide). 

Whether the symptoms begin in your twenties or not until your sixties, the only thing you know for certain is that it will get worse.

This is “living with Kennedy’s Disease.”  

Because the progression is slow, the actual disease is not nearly as bad as the emotional aspects of learning to live with the disease.  Our fears are our worst enemy.  Once we learn how to control the fears (accept our situation), we begin to adjust and start living again.  And, we find that … 

there is life after Kennedy’s Disease. 

A ‘step’ in the right direction

Question:  What was named one of Time Magazine’s 50 Best Inventions for 2010?

Question:  What product was demonstrated on CNN that could remove a barrier to those that have lost the use of their legs?

Answer:  Berkeley Bionics eLEGS Exoskeleton.

Dan, a poster on our KDA Forum, turned me on to this new (October, 2010) mobility device.  These type devices brings more hope to those of us living with Kennedy’s Disease.

The exoskeleton weighs 45 pounds, runs on batteries for up to six hours, and allows people that have lost the use of their legs to once again walk.  The speed of the walk is adjustable with a current top speed of 2 mph.  The eLEGS should be available within the next year in many rehabilitation clinics throughout the United States.

FOR SPINAL CHORD INJURIES

The initial focus of eLEGS is for persons with spinal chord injuries.  The person uses two canes to activate the leg braces servo unit causing it to step forward … actually bending the knee in the step process.  “The device is battery-powered and employs a gesture-based human-machine interface which — utilizing sensors — observes the gestures the user makes to determine their intentions and then acts accordingly.   A real-time computer draws on sensors and input devices to orchestrate every aspect of a single stride.”  The current technology is based upon a military load carrier called HULC (Human Universal Load Carrier).

Berkeley Bionics’ website states the following:  “Now we are putting the finishing touches on our newest product, an exoskeleton that enables wheelchair users to stand and walk.  Our ready-to-wear bionic exoskeletons provide users with seriously enhanced strength, endurance and mobility. They make you stronger for longer, or able to stand and walk, away from your wheelchair.”  They have a press release that explains eLEGS in more detail.

“Ergonomic, highly maneuverable, easily donned and doffed, mechanically robust and lightweight, they are durable bionic outfits.”
 
There is a great video on Amanda Boxtel demonstrating the eLEGS on CNN.  She is a person that has not walked for 18 years.  There is also a YouTube video explaining the technology and showing Amada setting up and walking with it.  One other video shows Amanda and another man giving a demonstration to an audience.  Discover Magazine also has an interesting article on this new mobility device.

In the videos the movement does not seem relaxed or normal, but when I walk I do not look relaxed or normal either.  Locking my knees on every step to make certain my knee does not give out would make for a funny video.  I am certain it is just like using a cane or walker.  The first few times (in Amanda’s case 20 hours) that you use a new device are a learning process.

AND FOR THE BAD NEWS

Now for the reality check.  The initial price of eLEGS is about $100,000.  They hope to have a commercial model available within a couple of years that would be priced around $50,000.  This price will come down over time like what happened to the HAL exoskeleton.

I also believe that they will be improving the operation of the device over time … first generation products lead to rapid improvements in second and third generations.

MORE REASONS FOR HOPE

For me, this is all great stuff and takes any of us living with Kennedy’s Disease one ‘step’ closer to walking safely again.  Or, I guess I could say what Neil Armstrong said when he stepped onto the moon’s surface, “One small step for man.  One giant leap for …  BRAVO!

I forget you are in a wheelchair

Have you ever felt handicapped?  You know what I mean; that sense that someone is looking at you because you are in your wheelchair or scooter, or using your walker.

There are times I am still a little self-conscious about having to use a wheelchair in public.  Yes, I know, I am far safer these days and much more mobile, but sitting in a wheelchair … well … 

I received one of the nicest compliments the other day from a neighbor and friend.  We were talking football … our normal Friday and Saturday morning topic … when he mentioned something that meant a lot to me.

He said, “Whenever we get together, within a couple of minutes I forget you are in a wheelchair.” 
That comment made me feel “normal" ... you know, just one of the guys.  I was ready to stick some chaw in my mouth, grab a beer, and kick a few tires.

Even though I am not usually one to ponder how others view me, I tend to view myself as a person needing a wheelchair.  To have someone affirm that “I” and “wheelchair” are not part of the same perspective (when he thinks of me) removes this “less than” feeling I occasionally have of myself when in public.



I believe some of these feelings come from not being able to stand for long when having a conversation.  Coming from a sales background, making eye-contact and standing when being introduced to someone was normal for me.  Today, sitting, while everyone else is standing, is tough on the neck.  And, in some ways, is a social barrier … as in “being looked down upon” or “talked down to.”  I know that might sound crazy, but unfortunately that thought occasionally comes to mind. 

Having to drive a wheelchair through a large crowd of mingling people gives me a similar feeling.  My new chair helps to a degree because I can elevate the seat thirteen inches making me a little more eyelevel.  My other concern in large crowds is running over someone’s foot.

I realize this is just an “insecurity” of mine, but the feeling seems real to me at the time.   And, that is why the comment, “I forget you are in a wheelchair” meant enough to me to write about it in my blog.



How about you?  Do you occasionally feel handicapped?  Does not being able to stand while others around you are all standing frustrate or bother you? 

Research News from the KDA Conference

The Kennedy’s Disease Association had its annual conference and education symposium last month in San Diego.  In an earlier article on this subject I mentioned that the doctors/researchers who attend have their own breakout meetings to share information as well as discuss and collaborate on research projects.



Ed Meyertholen, a board member and the Scientific Review Board Liaison, prepared the article below for the KDA’s upcoming holiday newsletter.  I thought you might find it interesting.

“One of the great experiences of attending the KDA conference is the opportunity to meet and interact with the many researchers who are diligently working to cure Kennedy’s Disease.  We are indeed blessed to have so many researchers who care enough to come and participate in these conferences. There are only a handful of labs that work on Kennedy’s Disease and over the years, most of the researchers from those labs make it a rule to come to our meetings.  This year was no exception as researchers from around the world came to San Diego to meet us and to share their work with us. 
 
The participation of the researchers takes two forms.  Several of the scientists present their latest work at a general meeting.  At this time, the researchers attempt to explain the details of their work (and it is usually quite intricate) and how their findings may eventually lead to a treatment for Kennedy’s Disease.  In addition, there is also a closed meeting which only the researchers attend in which they are able to discuss with each other the implications of recent research and possible avenues of future studies and even possible treatments.  I feel that this is an especially valuable resource in that that allows the exchange of information and ideas between labs.  We are lucky to have a set of scientists who are able to communicate and collaborate with each other and in doing so, help further the search for a treatment.  
 
Some of the highlights of the presentations include the announcement by Dr. Shih, that his group was awarded a grant to begin the process of testing ASC-J9 as a possible treatment for Kennedy’s Disease.  ASC-J9 is a drug that is derived from a chemical in curry that has been shown to relieve the symptoms of Kennedy’s Disease in mice models.  This grant will fund further research with the goal to determine if it is reasonable to plan a clinical trial in the coming years. 


Dr. Kenneth Fischbeck presented some of the results from the dutasteride trial that ended in 2008. While there were no statistically significant effects of dutasteride on the primary outcome measure (quantitative muscle testing), there were effects in some of the other measurements (physical quality of life and number of falls). It is hoped that these results will be published in the near future. He also indicated that NIH was planning a clinical trial on the effect of exercise for Kennedy’s Disease patients. It is hoped that this may start within the next year so watch for an announcement if you are interested.
 


In addition to these specific items, the theme of the researcher presentations centered on the concept that a better understanding of the workings of the normal androgen receptor (AR, the protein that is altered in Kennedy’s Disease) is necessary to understand how the altered AR causes nerve cell death, and thus how it leads to Kennedy’s Disease.  Some of the research described experiments that show that the AR does not act alone as it works in a cell and that these normal interactions appear to be necessary for the mutant AR to cause disease.  These interactions are a bit too complicated to try to describe here, but they involve interactions with other proteins (including the AR itself), with DNA, and with chemical modifications that occur to the AR.  Altering or interfering with these interactions or modifications appears to prevent the mutant AR from causing disease.  Such research is vital to understanding the molecular basis of Kennedy’s Disease and it is hoped these will lead to a new effective treatment for Kennedy’s Disease. 
 


Some of the conferees also were able to become part of a research effort. Several consented to donate a small piece of their skin to  help find a treatment or cure for Kennedy’s Disease.  These samples will be used to generate stem cells from which they can form cultured motor neurons.  It is commonly believed that the main effect of Kennedy’s Disease is on the motor neurons. However, it is not possible to obtain these nerves cells from living patients. This fact makes it difficult to investigate the chemical and biological differences between the motor neurons in Kennedy’s Disease patients and those in non-affected individuals.  It is hoped that by using cells from these skin punches, researchers can generate motor neurons in a ‘dish‘ and use these cells to further the understanding of why these cells are affected in Kennedy’s Disease.
 
We thank the following researchers for joining us and participating in panel discussions:

• Kenneth H. Fischbeck, MD, National Institute of Health (USA)
• Diane E. Merry, PhD, Thomas Jefferson University (USA)
• Al La Spada, MD, PhD, University of California, San Diego (USA)
• J. Paul Taylor, MD, PhD, St. Jude Children’s Research Hospital (USA)
• Lenore Beitel, PhD, Lady Davis Institute for Medical Research, Jewish General Hospital (Canada)
• Andrew Lieberman, PhD, University of Michigan (USA)
• Douglas “Ashley” Monks, PhD, University of Toronto (Canada)
• Angelo Poletti, PhD, University of Milan (Italy)
• Maria Pennuto, PhD, Italian Institute of Technology (Italy)
• Heather Montie, PhD, Thomas Jefferson University (USA)
• Jill Yersak, Thomas Jefferson University (USA)
• Erin Heine, Thomas Jefferson University (USA)
• Lori Cooper, Thomas Jefferson University (USA)
• Angela Kokkinis, BSN, RN, National Institutes of Health (USA)
• Chris Grunseich, MD, National Institutes of Health (USA)
• Alice Schindler, MS, CGC, National Institutes of Health (USA)
• Carlo Rinaldi, MD, National Institutes of Health (USA)
• Laura Bott, National Institutes of Health, Karolinska Institute (Sweden)” 

As you can tell, even though the KDA is a relatively small non-profit, the support we receive from researchers in the United States, Canada and Europe is wonderful.  They are the ones that do the heavy lifting and hopefully we will be the ones that benefit from their work.