Sunday, June 25, 2017

Congratulations Chris

I wrote about Chris Symonds sailing in the Para World Sailing Championships earlier this week. Chris lives with Kennedy's Disease, but that doesn't slow him down much.

Great news!
Chris won the Silver Medal. 
Below is a portion of the article from World Sailing announcing the medalists.

"Poland's Cichocki dominated the Men's Hansa 303 and three final day race wins handed him his second Para World Sailing title in as many years, having won gold in the SKUD18 at the 2016 Para World Sailing Championships.

Australia's Christopher Symonds fended off a late charge from Germany's Jens Kroker to seal silver. The German settled for bronze."

What a super accomplishment.

Thursday, June 22, 2017

If air travel is in your future, check this out ...

The MDA Advocacy group published the results of their survey on air travel. Below is the email the MDA sent out with a link to the full article. I have also included a link to the DOT’s annual report on disability-related complaints for air travel. It shows a 224% increase in complaints over the last ten years. That's huge, but when you consider the actual number of complaints it is staggering. 

2007 Report =13,766                               2016 Report = 30,830

And, we all know that a vast majority of problems experienced are never formally submitted to the DOT.


MDA Advocacy Newsletter

“In an effort to understand the scale and scope of challenges faced by the neuromuscular disease community when traveling by air, at the end of 2016 we surveyed the MDA community about their flying experiences. We received more than 2,000 responses, and we thank everyone who took the time to participate in the survey. We hope you'll take a moment to review the results to see how challenges with and access to air travel impact our community.

Over the past two years, MDA has made accessible air travel one of our policy priorities. We're working closely with policy makers, federal agencies, industry and other advocacy and disability rights organizations to help improve access to air travel for MDA families. For more information about traveling with limited mobility, visit MDA's Accessible Air Travel Resource Center.”

Click here to read the full article on the MDA website.


A few months ago, I called upon my readers to contact their representatives regarding this important issue. The bill introduced in the Senate recently would go a long way in helping this ongoing issue.

“While there are efforts in place to increase access to air travel, there is still much to be done to improve the rights of passengers with disabilities during air travel. Recently, the U.S. Senate introduced a bill that strengthens the rights of disabled passengers under the Air Carrier Access Act. Included in the bill are provisions to:

1. Strengthen enforcement to include specific protections of the rights of passengers with disabilities and recourse when those rights are violated;

2. Ensure airplanes are designed to accommodate people with disabilities and airlines meet accessibility standards, including safe and effective boarding and deplaning;

3. Provide better stowage options for assistive devices;

4. Improve access to seating accommodations;

5. Close service gaps in air travel for passengers with disabilities; and

6. Require that the U.S. Access board conduct a study to determine the ways in which individuals who use assistive devices can be accommodated through cabin wheelchair restraint systems.”

All of the above would help, but I especially like #6.

If interested, click here to access the annual DOT Reports on Disability-Related Air Travel Complaints.

Saturday, June 17, 2017

Chris Symonds to set sail against best in the world

The following article was written by Camron Slessor in The Advocate. We wish Chris smooth sailing and hope he brings home the cup.


Chris Symonds believes preparation will be key when he competes on the world stage later this month. 

The Wynyard Yacht Club member will travel from the North-West Coast to Germany to test his skills and compete against some of the best sailors in the world. 

The 2017 Para World Sailing Championships will be held in Kiel, Germany from June 21-26 with Symonds to be joined by coach and support Mike Darby on the trip abroad. 

Symonds has Kennedy’s Disease which is a progressive Motor Neuron condition effecting muscles throughout the body and currently there is no cure or treatment.

He will compete in the Hansa 303 male division at the event where there are 32 entrants from 26 different countries, he will be the only Australian representative in his division and this will be the first Para regatta he has attended.

Symonds said he was excited to compete on the international stage and the event was huge on the sailing calendar. 

“I’m very excited, it shows that you can compete on the world stage from Wynyard and the North-West of Tasmania, Wynyard is lucky to have so many skilled and supporting community members,” Symonds said. 

“For Para-sailing, yes it’s huge.

“Outside of the Paralympics, which only come about every four years, this regatta is so important for world sailing who have gone to huge lengths to attract entrants from 40 nations across the two fleets.”

Symonds said he wouldn’t have been able to make the trip later this month without the support of the community and his coach for the competition, Mike Darby. 

“Some emerging nations have free boat hire to get them there, realistically many people with disabilities are not so financial, so support is necessary for many.

“The support from Mike and many others is unbelievable. Considering I cannot even launch my yacht or lift myself out of it without support to do so. 

“I am sailing for the community, not myself.”

As he prepared to face the best competition in the world, Symonds said to battle against able bodied athletes would be great for him to test himself. 

“Preparation is the key. We have done all we can to be best prepared so whatever the result we should feel good about it,” he said. 

“Those with Kennedy’s Disease around the world are supporting and watching closely. 

“It shows that anything is possible even with this debilitating condition. 

“There are not any other sports that would allow me to compete equally with able bodied persons.” 

Darby will travel with Symonds as his coach and support for the trip with the pair long term rivals having sailed against each other for over 40 years.

Symonds said preparation and training had being full on for the pair since Easter with structured on water, off water, fitness, rules knowledge, boat and event preparation.

Symonds is the current Open Hansa 303 singles Tasmanian and Australian champion as well as the Asia Pacific and World Champion in the open category, meaning able bodied and mixed gender persons can compete

Friday, June 16, 2017

Another Robotic Suit

Well, actually, it is the latest version of a company’s exoskeleton.

I just read the article and saw the video on YahooNews. I went to the ReWalk website and learned more about it. It says that ReWalk is the first exoskeleton to receive FDA clearance for personal and rehabilitation use in the United States. Then I noticed that the Stair Function is currently not available in the United States.

It appears to be designed for spinal cord injuries. It also mentions rehab for stroke victims and people with Multiple sclerosis. Yet, in the FAQ Section, it mentions that people with ALS, Cerebral palsy, Traumatic brain injury, etc. can use it. So, it might be something for those of us living with Kennedy's Disease.

ReWalk has over eighty training centers in the United States and hundreds more throughout the world. I don’t know what it costs, but it appears some insurance companies and the V.A. are using it for rehab purposes.

It appears there are three different units. I grabbed this from the article. "The lightweight, small, wearable suit is much simpler than ReWalk’s device that enables paralyzed patients to stand, walk and navigate stairs. Unlike the ReWalk 6.0, which includes robotic leg attachments that can weigh nearly 50 pounds, the soft exoskeleton looks more like the harness construction workers wear for safety than a bionic system. It consists of a waist belt fitted with a motor and battery, flexible cables that transmit power from the motor to the ankles, leg braces and shoe sensors. And it’s all activated by the flick of a switch.

ReWalk has not yet determined how much the soft-exoskeleton suit will cost, but says it will be more affordable than the ReWalk 6.0, which has a list price of $77,000."

Who can use it?
Before using the device, confirm that the following prerequisites are met by the user:
  • Hands and shoulders can support crutches or a walker
  • Healthy bone density
  • Skeleton does not suffer from any fractures
  • Able to stand using a device such as EasyStand
  • In general good health
  • Height is between 160 cm and 190 cm (5′ 3″ – 6′ 2″)
  • Weight does not exceed 100 kg (220 lbs)
People with the following conditions should not use the ReWalk™:
  • History of severe neurological injuries other than SCI (MS, CP, ALS, TBI etc)
  • Severe concurrent medical diseases: infections, circulatory, heart or lung, pressure sores
  • Severe spasticity (Ashworth 4)
  • Unstable spine or unhealed limbs or pelvic fractures
  • Heterotopic ossification
  • Significant contractures
  • Psychiatric or cognitive situations that may interfere with proper operation of the device
  • Pregnancy

Monday, June 5, 2017

It’s Never Too Early or Too Late

If you are a regular reader, you know that I encourage staying active, mentally, socially and physically. Just because we have a life-changing condition, doesn't mean we have to sacrifice our life.

It is far too easy to allow the problems of the world, and with your health, to drag you down. I read an interesting article by Dr. Heather Snyder in The Costco Connection this weekend. She referenced “10 Ways to Love your Brain” from the Alzheimer’s website.

"Growing evidence indicates that people can reduce their risk of cognitive decline by adopting key lifestyle habits. When possible, combine these habits to achieve maximum benefit for the brain and body. Start now. It’s never too late or too early to incorporate healthy habits."
  1. Break a sweat. Engaging in regular physical activity. It elevates the heart rate and increases blood flow in the brain and body. We might not be able to do what we used to do, but we can still get a workout. I believe the key word here is ‘regular’.     
  2. Hit the books. Study in any stage of life will help reduce the risk of cognitive decline and dementia. Take a class; learn a foreign language, or a new instrument; or join a book club. Challenge your brain by trying something new/different.
  3. Butt out. Evidence shows that smoking increases risk of cognitive decline. Quitting smoking can reduce that risk to levels comparable to those who have not smoked.
  4. Follow your heart. Evidence shows that risk factors for cardiovascular disease and stroke — obesity, high blood pressure and diabetes — negatively impact your cognitive health. Take care of your heart and your brain just might follow.
  5. Heads up! Brain injury can raise your risk of cognitive decline and dementia. Wear a seat belt, use a helmet when playing contact sports or riding a bike, and take steps to prevent falls. I’ll repeat this last one … take steps to prevent falls.
  6. Fuel up right. Eat a healthy and balanced diet that is lower in fat and higher in vegetables and fruit to help reduce the risk of cognitive decline. Although research on diet and cognitive function is limited, certain diets, including Mediterranean and Mediterranean-DASH (Dietary Approaches to Stop Hypertension), may contribute to risk reduction.
  7. Catch some Zzz's. Not getting enough sleep due to conditions like insomnia or sleep apnea may result in problems with memory and thinking.
  8. Buddy up. Staying socially engaged may support brain health. Pursue social activities that are meaningful to you. Find ways to be part of your local community — or, just share activities with friends and family.
  9. Stump yourself. Challenge and activate your mind. Build a piece of furniture. Complete a jigsaw puzzle. Do something artistic. Play games, such as bridge, that make you think strategically. Challenging your mind may have short and long-term benefits for your brain.
  10. Take care of your mental health. Some studies link a history of depression with increased risk of cognitive decline, so seek medical treatment if you have symptoms of depression, anxiety or other mental health concerns. Also, try to manage stress.

Thursday, June 1, 2017

Federal Funding for Research Update

Good news! Thanks to many of you who contacted their Congressional Representatives, federal funding for research was increased through FY-2017.

The MDA Advocacy newsletter reported the following:

Congress boosts federal funding for research

This month we thank Congress for including a boost to research funding in the recently passed omnibus spending package that funds the federal government through the end of fiscal year 2017.  The budget package includes a $2 billion (6% increase) for the National Institutes of Health (NIH).  MDA appreciates every lawmaker that supports increased funding for biomedical research and thanks to all advocates who urged their members of Congress to help ensure that NIH received this critical funding increase.  As budgeting for fiscal year 2018 moves forward, we will continue to call on Congress to keep up the momentum by committing to robust and consistent funding increases to NIH in this and future budgets.  With four new drug approvals for neuromuscular disorders in the past year and with a robust drug development pipeline, we must continue the push to make NIH funding and biomedical research an ongoing bipartisan Congressional priority.

Sunday, May 28, 2017

We have an obligation to fulfill

Every May, we have the opportunity to remember those who have given the ultimate sacrifice for their country. Many of us know comrades-in-arms who never returned home. Yet, for every one we know, there are tens of thousands more who served and never returned. It is often called, “The Price of Freedom.”  That is why we must never forget to honor them.

In these divisive times, it is easy to become entangled in the Left and the Right’s rhetoric. Too often, when this happens, we can forget what actions gave us the right to vote, to challenge, to protest, and to change what needs to be improved.

This weekend, we need to put aside our differences for a few moments and honor all those who served and never returned. General Logan’s words below say it far better.   

John A. Logan, Commander and Chief

General Orders No.11, WASHINGTON, D.C., May 5, 1868

1. The 30th day of May, 1868, is designated for the purpose of strewing with flowers or otherwise decorating the graves of comrades who died in defense of their country during the late rebellion, and whose bodies now lie in almost every city, village, and hamlet church-yard in the land. In this observance, no form of ceremony is prescribed, but posts and comrades will in their own way arrange such fitting services and testimonials of respect as circumstances may permit.

We are organized, comrades, as our regulations tell us, for the purpose among other things, “of preserving and strengthening those kind and fraternal feelings which have bound together the soldiers, sailors, and marines who united to suppress the late rebellion.” What can aid more to assure this result than cherishing tenderly the memory of our heroic dead, who made their breasts a barricade between our country and its foes? Their soldier lives were the reveille of freedom to a race in chains, and their deaths the tattoo of rebellious tyranny in arms. We should guard their graves with sacred vigilance. All that the consecrated wealth and taste of the nation can add to their adornment and security is but a fitting tribute to the memory of her slain defenders. Let no wanton foot tread rudely on such hallowed grounds. Let pleasant paths invite the coming and going of reverent visitors and fond mourners. Let no vandalism of avarice or neglect, no ravages of time testify to the present or to the coming generations that we have forgotten as a people the cost of a free and undivided republic.

If other eyes grow dull, other hands slack, and other hearts cold in the solemn trust, ours shall keep it well as long as the light and warmth of life remain to us.
Let us, then, at the time appointed gather around their sacred remains and garland the passionless mounds above them with the choicest flowers of spring-time; let us raise above them the dear old flag they saved from his honor; let us in this solemn presence renew our pledges to aid and assist those whom they have left among us a sacred charge upon a nation’s gratitude, the soldier’s and sailor’s widow and orphan.

2. It is the purpose of the Commander-in-Chief to inaugurate this observance with the hope that it will be kept up from year to year, while a survivor of the war remains to honor the memory of his departed comrades. He earnestly desires the public press to lend its friendly aid in bringing to the notice of comrades in all parts of the country in time for simultaneous compliance therewith.

3. Department commanders will use efforts to make this order effective.


General Order from Memorial Day website

Wednesday, May 24, 2017

New Research Paper Published on Kennedy's Disease

The World Journal of Biological Chemistry published another interesting Kennedy’s Disease study this week. Below is a portion of the abstract. The entire paper can be read by following the link below. This is preliminary research and more study is required to determine the potential benefits and possible side effects.

Background - The AR gene contains CAG repeats which affect receptor function, where fewer repeats leads to increased receptor sensitivity to circulating androgens and more repeats leads to decreased receptor sensitivity.

Identification of neuron selective androgen receptor inhibitors

World J Biol Chem. May 26, 2017; 8(2): 138-150


To identify neuron-selective androgen receptor (AR) signaling inhibitors, which could be useful in the treatment of spinal and bulbar muscular atrophy (SBMA), or Kennedy’s disease, a neuromuscular disorder in which deterioration of motor neurons leads to progressive muscle weakness.


Cell lines representing prostate, kidney, neuron, adipose, and muscle tissue were developed that stably expressed the CFP-AR-YFP FRET reporter. We used these cells to screen a library of small molecules for cell type-selective AR inhibitors. Secondary screening in luciferase assays was used to identify the best cell-type specific AR inhibitors. The mechanism of action of a neuron-selective AR inhibitor was examined in vitro using luciferase reporter assays, immunofluorescence microscopy, and immunoprecipitations. Rats were treated with the most potent compound and tissue-selective AR inhibition was examined using RT-qPCR of AR-regulated genes and immunohistochemistry.


We identified the thiazole class of antibiotics as compounds able to inhibit AR signaling in a neuronal cell line but not a muscle cell line. One of these antibiotics, thiostrepton is able to inhibit the activity of both wild type and polyglutamine expanded AR in neuronal GT1-7 cells with nanomolar potency. The thiazole antibiotics are known to inhibit FOXM1 activity and accordingly, a novel FOXM1 inhibitor FDI-6 also inhibited AR activity in a neuron-selective fashion. The selective inhibition of AR is likely indirect as the varied structures of these compounds would not suggest that they are competitive antagonists. Indeed, we found that FOXM1 expression correlates with cell-type selectivity, FOXM1 co-localizes with AR in the nucleus, and that shRNA-mediated knock down of FOXM1 reduces AR activity and thiostrepton sensitivity in a neuronal cell line. Thiostrepton treatment reduces FOXM1 levels and the nuclear localization of beta-catenin, a known co-activator of both FOXM1 and AR, and reduces the association between beta-catenin and AR. Treatment of rats with thiostrepton demonstrated AR signaling inhibition in neurons, but not muscles.


Our results suggest that thiazole antibiotics, or other inhibitors of the AR-FOXM1 axis, can inhibit AR signaling selectively in motor neurons and may be useful in the treatment or prevention of SBMA symptoms.

Friday, May 19, 2017

What is Kennedy's Disease?

Back to the Basics

The Androgen Receptor Gene

The AR gene provides instructions for making a protein called an androgen receptor. Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body to respond appropriately to these hormones. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.

The receptors are present in many of the body's tissues, where they attach (bind) to androgens. The resulting androgen-receptor complex then binds to DNA and regulates the activity of androgen-responsive genes. By turning the genes on or off as necessary, the androgen receptor helps direct the development of male sexual characteristics. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.

In one region of the AR gene, a DNA segment known as CAG is repeated multiple times. This CAG segment is called a triplet or trinucleotide repeat. In most people, the number of CAG repeats in the AR gene ranges from fewer than 10 to about 37.

The AR Gene and Spinal Bulbar Muscular Atrophy

Kennedy’s Disease, aka, Spinal Bulbar Muscular Atrophy, results from a particular type of mutation, an expansion of the CAG trinucleotide repeat, in the AR gene. This receptor attaches (binds) to a class of hormones called androgens.

With Kennedy’s Disease, the CAG is abnormally repeated from 38 to more than 60 times causing a disorder of the specialized nerve cells that control muscle movement. Researchers believe that a fragment of the androgen receptor protein containing the CAG repeats accumulates within these cells and interferes with normal cell functions. This buildup leads to the gradual loss of motor neurons, which results in muscle weakness and wasting (atrophy).

People with a higher number of CAG repeats tend to develop signs and symptoms of Kennedy’s Disease at an earlier age. [ FrequentlyAsked Questions about KD ]

Characteristics of Spinal Bulbar Muscular Atrophy

Spinal Bulbar Muscular Atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall.

Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).  [ CommonSymptoms ]

Inheritance Pattern

This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females (who have two X chromosomes). [ GeneticChart ]

DNA Test

Fortunately, today there is a DNA test to determine if a person has Kennedy’s Disease. Your doctor can draw some blood and send it to a DNA lab for testing. Test results are normally returned within three-to-six weeks. [ TestDetails ]

Note: Most information provided by the Genetics Home Reference

Sunday, May 7, 2017

Great News - A Treatment for ALS

In case you missed it, the big news this week is the FDA fast-tracked the approval of a treatment for ALS. You can read about it here:  CNN Health and here:  FDAPress Release.

This is fantastic news for those living with ALS.

I have received a few inquiries asking if this drug could be helpful for treating Kennedy’s Disease.

First off, I am not a doctor and not as knowledgeable as some others with KD concerning this topic. What I do know is that ALS is a condition that attacks the upper motor neurons. Kennedy’s Disease attacks the lower motor neurons. For this reason, I do not believe the new drug will be beneficial for those of us living with KD.

So what is the difference between the two upper and lower motor neurons? I found the following explanation to be helpful.

Upper motor neurons originate in the motor region of the brain stem. They are not responsible for the stimulation of the muscle which is targeted as they do not carry information down to the final common pathway. They work through a neurotransmitter called glutamate which transmits the nerve impulses from upper to lower motor neurons where it is detected by glutamatergic receptors. On the other hand, lower motor neurons receive impulses from the upper motor neurons and connect the spinal cord and brain stem to the muscle fibers. They are the cranial and spinal nerves. They work by making use of the glutamate which is released from the upper motor neurons, and this triggers depolarization in the lower motor neurons. A series of actions occur which end up signalling the muscle to contract. The cell bodies of the lower motor neurons are located in the neuraxis, and their axons leave and synapse with the muscles in the body. On the other hand, the upper motor neurons synapse with the lower motor neurons as they are unable to leave the central nervous system.

Nonetheless, even if this new treatment is not the answer, it is progress and a help for those living with ALS. 

Friday, May 5, 2017

What—Me Worry?

Many of my friends and family believe I accept living with Kennedy’s Disease better than most. I’m not so certain about that. I know of many men that are well centered and accepting. Perhaps we just hide it better than others do. Or, we aren’t smart enough to understand what is happening. Whatever the reason, I’m comfortable being this way.

I have my down days. I still wonder what the future has in store for me. Probably the only difference is that I don’t dwell on these thoughts. I am too busy ‘living’ to wallow in the muck of uncertainty.

Meditation helps put things in perspective. There is something called ‘noting’ that works for me. Whenever I find myself dwelling on a thought, I notice it (acknowledge it), apply a label to it (oh, that’s a fear of what might happen to me), and move on. I don’t study it or try to understand it; I just notice the thought and then discard it by refocusing on my breathing. If I tell myself to forget it, or force myself to think of something else, it won’t work. But, by just acknowledging the thought and then refocusing on my breath, it no longer is important and stops nagging me.

I also have a couple of good hobbies and social events that allow me to focus on something productive. If I’m engaged in an activity or a conversation, negativity can’t seem to wedge its way into my thoughts.

I’ll give you an example of a recent event. At the beginning of the year, I was in a long slide that had me concerned. If things didn’t change, my daily life would be transformed—and not in a positive way. After a couple of days of wallowing, I ‘noted’ it, and then refocused.

Almost immediately, my thoughts redirected to what I could do and what has helped in the past. I gradually worked my way through the issue and am better now (stronger) than before I started.

We are all human. We have concerns and fears. However, that doesn’t mean they have to control our lives.

Tuesday, April 25, 2017

SBMA and HD; New Genetic Study of HD

An article published last month in HDBuzz discusses Huntington's Disease (HD). Since HD and Kennedy's Disease (SBMA) have defects of the CAG genes, there are similarities between the two conditions.

Important drug targets yielded by new genetic study of HD

A genetic study confirms that minute differences in DNA repair genes can influence the age of HD symptom onset.
By Leora Fox on May 02, 2016Edited by Dr Jeff Carroll

It’s a great mystery why different people with the same HD mutation sometimes develop symptoms at vastly different ages. Last year a huge genetic analysis gave us some interesting clues, and now, researchers are focusing in on the most promising results. A recent study shows that tiny changes within genes that repair damaged DNA can have a big effect on age of onset in HD and related diseases.

Pursuing the reasons for different ages of symptom onset

Huntington’s disease is an inherited illness, so a person whose parent or grandparent has the disorder is at risk of developing symptoms one day. Even those who learn they are positive for the HD gene through genetic testing face a great and daunting unknown: when will symptoms begin to develop? ...

... In fact, HD is not the only polyglutamine disorder – several other hereditary illnesses are caused by CAG repeats in different parts of the genome. Two examples are spinocerebellar ataxia (SCA), which involves difficulties with balance and coordination, and spinal bulbar muscular atrophy (SBMA), which usually affects men and causes muscle weakness and hormone imbalances. One similarity between CAG repeat diseases is that longer repeats cause earlier ages of symptom onset. And it turns out that some of the same genetic modifiers that contribute to the timing of HD symptoms play a similar role in other poly-Q diseases. ...

... We don’t yet understand the reasons why such tiny changes in DNA repair genes led to significant discrepancies in age of onset in poly-Q disorders. Nevertheless, it is exciting to unearth direct genetic evidence that a shift in symptom onset is possible. ...

To read the entire article including the section on SBMA, follow this link:

Thursday, April 20, 2017

Annual Wellness Review

I am an advocate of an annual wellness review. It is another way to help take charge of your personal health.

Fortunately, Medicare, and many health insurance companies, provide this service at no additional cost. I look forward to this event and use it as an opportunity to discuss my general health and any specific issues that have surfaced since the last visit.

Prior to the Checkup

  • Personal Observations Document (POD). 
    • A week prior to the checkup, I review my daily health journal and previous year’s blood test results. The journal is a record of how I am doing. It includes comments on my strength, stamina, falls, stumbles, accidents, and injuries. I use keywords and highlights for anything abnormal or of concern. 
    • For example, am I having phlegm problems, pain, weakness, shortness of breath, etc. Along with the keyword, I briefly describe what happened and what might be the cause or trigger. 
    • I develop a draft POD.
  • I review the POD with my wife asking if she is aware of anything else I need to include in the Health Review. She always seems to have one or two additional items.  
  • After I update the POD, I print two copies, one for me and my doctor.

The Checkup

  • My blood pressure, pulse and temperature are checked. 
  • All medications I am currently taking including vitamins are reviewed.
  • I review with my doctor the Personal Observations Document. 
    • This is always a good starting point for further discussions including needed screenings and additional test.
  • Besides the normal check of my heart and lungs, my doctor asks a series of questions relevant to a person of my age and condition. 
  • Review immunization needs including pneumonia booster, flu shot, etc.
  • Blood is drawn. The blood tests are a good indicator of potential ‘red flags’ or early warning signs. It usually takes three-to-five days for the results. 
    • I always have my CPK checked – there is no additional cost for this.
    • My cholesterol, both good and bad, is also another indicator of changes taking place within your body.  
    • I ask for a copy of the blood test results for my records.

Post Checkup

  • If needed, schedule additional screenings and tests.
  • Review any follow-up items with my wife.
  • When the blood test results arrive, I record the results in my Blood Test History spreadsheet. This report dates back to the 1980s. It is an excellent record reflecting trends, both good and bad. I have graphed important indicators like CPK for a visual review of trends.

Tuesday, April 11, 2017

God bless Caregivers

My wonderful wife has been dealing with Kennedy’s Disease for forty years. When we married, neither of us had a clue what life would be like 20, 30 or 40 years down the road. We never imagined Kennedy’s Disease would become a major part of our life. We were two nature lovers that enjoyed the great outdoors and ranked hiking in the forest or mountains above most everything else. Life was good and it was fairly easy.

Thankfully, she has grown into one efficient caregiver.

Early on, she tried to do too much to help and my ego didn’t appreciate her over-attentiveness. During the middle years, she had to bite her tongue many times when I tried something I was no longer capable of doing—often ending up in a minor or more serious injury. When I fractured both bones in my left leg, she had to put her entire life on hold for ninety days because I couldn’t even transfer without help.

Like me, her role has changed and evolved depending upon my capabilities and attitude. There were times I thought she might want to throw in the towel, but she never did—thankfully.

What amazes me is how efficient and subtle she is. I’ll come into the kitchen in the morning and find a bowl and silverware on the counter. I open the refrigerator and notice she has cooked up a container of noodles or cut up a salad with all the fix’ns. I open the drawer in the bathroom and find a new box of Breathe Right strips. You get the idea. Somehow, almost magically, things are done and items show up to make my life easier.

Just as important, she is ready to give me a good kick in the butt when I need one. I know this news might come as a surprise to you, but I am not always the easiest person to live with. J

So, if I haven’t said it enough today, thank you for being there. Thank you for your patience and support. Thank you for your strength. Most of all, thank you for your love. I am blessed to have you in my life.

Saturday, April 1, 2017

Updated Kennedy's Disease Information

A reader wrote and mentioned MedScape updated the information on Kennedy's Disease last June. I just read through the multi-page report. It is more current and fairly easy to understand. This would be a good recommendation for your doctor should he/she not be familiar with the condition. To read the entire report, you will need to register (free).

Here is the link:

Wednesday, March 29, 2017

Another call for action - NIH Budget Cuts

Take action to prevent cuts to federal research funding

We need your help to urge Congress to reject proposed cuts to National Institutes of Health (NIH) research funding. Support for NIH is critical as it is the largest funding source of biomedical research in the United States, and why ensuring adequate funding for NIH is one of MDA's policy priorities. While research funding from organizations like MDA - which has invested more than $1 billion in research - is significant and is moving the needle, robust federal funding is essential to finding treatments and cures. Congress has come together in a bipartisan effort to support NIH funding in recent years, and it is up to all advocates to ensure that the bipartisan support continues. NIH fuding was increased in fiscal year (FY) 2016, and increases were proposed for FY17, though a final budget agreement for FY17 has not yet been enacted. It is a concern that there is no final budget in place for the current fiscal year, but of greater concern are the NIH budget cuts outlined in the President's budget blueprint (a $5.8 billion cut to NIH equivalent to 18% of the overall budget).

We must work together to ensure that research funding is not cut, and that NIH support continues to grow through strong bipartisan support in Congress. To deliver this message in person, researchers from leading institutions around the country visited Capitol Hill on March 22 in conjunction with MDA's 2017 Scientific Conference to urge Congress to reject any proposed funding cuts and to instead enact sustained and robust funding increases for the National Institutes of Health (NIH).

Now it is your turn to amplify this message. Please take a moment today to urge your members of Congress to maintain the bipartisan support for research and to reject any proposed cuts that would harm quest for the development of treatments and cures. 

We need to be heard! 
Years ago, I ignored these "calls for action" believing that they really didn't do any good. I am now an advocate of this approach. I now know my congressional representative's staff, an occasionally my representative, reads these emails. Even better, I receive a response and often a follow-up email explaining what happened and why. Thank you for your consideration. Please click on the "TAKE ACTION" above.

Monday, March 27, 2017

Can Carriers of Kennedy's Disease experience symptoms?

  • Can Kennedy's Disease Carriers experience symptoms? 
  • I am a carrier, why do I have severe cramping and difficulty swallowing. 

These type questiona are asked frequently. Researchers believe they know the answer, but since carriers are rarely studied, I am not sure we fully understand why some carriers experience far more severe symptoms and earlier onset. Below is a collection of articles on the subject. If anyone has other sources that might better explain the situation, please let me know.

X-linked dominant inheritance

In X-linked dominant inheritance, when the mother alone is the carrier of a mutated, or defective gene associated with a disease or disorder; she herself will have the disorder. Her children will inherit the disorder as follows:
  • Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected. Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question.

When the father alone is the carrier of a defective gene associated with a disease or disorder, he too will have the disorder. His children will inherit the disorder as follows:
  • Of his daughters: 100% will have the disorder, since all of his daughters will receive one copy of his single X chromosome.
  • Of his sons: none will have the disorder; sons do not receive an X chromosome from their father.
If both parents were carriers of a defective gene associated with a disease or disorder, they would both have the disorder. Their children would inherit the disorder as follows:
  • Of their daughters: 100% will have the disorder, since all of the daughters will receive a copy of their father's X chromosome.
  • Of the sons: 50% will have the disorder, 50% will be completely unaffected. Sons have an equal chance of receiving either of their mother's X chromosomes.
In such a case, where both parents carry and thus are affected by an X-linked dominant disorder, the chance of a daughter receiving two copies of the X chromosome with the defective gene is 50%, since daughters receive one copy of the X chromosome from both parents. Were this to occur with an X-linked dominant disorder, that daughter would likely experience a more severe form.
  • Read the entire article at: Wikipedia    

So, what does happen when a woman has two defective 'X' chomosomes?

Ed Meyertholen provided an explanation in a KDA Forum. Click Here to read more
There is another interesting explanation about why symptoms might be more pronounced in some women.  X-inactivation

Monday, March 13, 2017

The only real disability in life is a poor attitude

Living with Kennedy's Disease, or any progressive disorder, is challenging. It is also a learning experience. It is easy to become caught up in the 'feeling sorry for yourself" mode. But, all that does is make life for you and your loved ones miserable.

Many years ago I came across this poem, "The Man in the Glass," by Peter Dale Wimbrow, Sr.

When you get what you want in your struggle for self
and the world makes you king for a day.
Just go to the mirror and look at yourself
and see what that man has to say.

For it isn't your father, mother or wife
whose judgement upon you must pass.
The fellow whose verdict counts in your life
is the one staring back from the glass.

He’s the fellow to please, never mind all the rest,
For he’s with you clear to the end,
And you’ve passed your most  difficult test,
If the man in the glass is your friend.

You can fool the whole world down the pathway of years,
And get pats on the back as you pass,
But the final reward will be heartache and tears,
If you’ve cheated the man in the glass.

The point of this journey is the journey itself. It can only be successful if you live in a way that allows you to enjoy the life you are given.

Friday, March 10, 2017

Robotic legs: Dermoskeleton technology aims to help B.C.'s disabled

Scott Cunningham, a reporter for the Vancouver Island CTV News, wrote the following article on Paul Lazenby's adventure test-driving the Keeogo. The video and Paul's comments on his experience can be found in my post earlier this week. The potential the Keeogo has to revolutionize mobility for those living with a disability has me more excited than I have been in quite a while.

Robotic legs: Dermoskeleton technology aims to help B.C.'s disabled

It was designed for the military and featured in the movies. Now, a futuristic robotic skeleton could help B.C.’s disabled community. The wearable technology, which looks like something out of the Robocop movies, arrived in the province in January. Designed by a Quebec-based company, the Keeogo device is an assistive walking machine aimed at helping people with mobility issues.

Targeted at people with multiple sclerosis, Parkinson’s disease and other neuromuscular issues, a new high-tech device is giving people like Duncan man Paul Lazenby their legs back. Suffering from Kennedy’s disease, Duncan man Ken Lazenby is slowly losing control of some muscle movement and is happy to be a trial patient for the new technology. March 8, 2017.

“We can see people continue to be active, healthy, exercise and rehabilitate,” said mobility device distributer Graham Plant. “Maybe they can get away from having to use a cane or a wheelchair.”

“It’s fun not to have to think about it,” said Lazenby, as he scaled a flight of stairs that would normally exhaust him. Suffering from Kennedy’s disease, the Duncan resident is slowly losing control of some muscle movement and is happy to be a trial patient for the new technology.

“What things like this offer is hope. Hope for young people who have neuromuscular diseases that they can move freely if they keep what strength they have left,” he said.

Priced at around $50,000, the futuristic mobility tools don’t come cheap. Because they’re so new, most insurance providers have yet to research them thoroughly.
WorkSafe BC says it is not aware of requests for Keeogo devices, but it is open to investigating anything that could help clients.

The robotic walking aids are a class one medical device, meaning they could be covered by insurance, much like a wheelchair. To date, the company HME Mobility and Accessibility, which is distributing the product in B.C., has yet to sell a unit but is in the midst of several patient trials.

Thursday, March 9, 2017

Silicon Valley man takes on Kennedy’s Disease

I just finished this article written by Jacqueline Lee in The Mercury News. Ralph is the gentleman that made the Kennedy's Disease Awareness video on Rare Disease Day. Ralph is definitely doing everything he can to raise awareness for this progressive neuromuscular disease. Thank Ralph

Silicon Valley man takes on Kennedy’s Disease

"These days, Ralph Briones, 42, has trouble walking up stairs, jogging, swallowing food or lifting heavy groceries.

Still, Briones is using what energy he has to raise awareness about Kennedy’s Disease. He was diagnosed in October with the relatively unknown neurological condition, which affects about 1 in 40,000 adult men.

On Rare Disease Day, which was Feb. 28 this year, Briones launched an online campaign to raise at least $10,000 to further research on the genetic disease that still baffles scientists, doctors and patients: There is no cure or treatment.

All proceeds go to the Kennedy’s Disease Association, which awards annual grants for research.

Just looking at Briones, who continues to work at Stanford University, does not offer many clues of his suffering.

“If you’ve known me a while though, you’d say, ‘You sound kind of funny, you’re walking kind of funny, your smile is crooked,’” Briones said.

That’s because the adult onset disease causes muscle weakness and deterioration, especially in the arms, legs, face and throat. The disease progresses at a different pace in each patient.

Eventually, Briones might not be able to talk or walk. But he’s focusing on the positive.

“When I got diagnosed with Kennedy’s Disease, the first thing I thought was, ‘How long do I have to live?” said Briones, a Santa Clara father of two. “From what I’ve seen, it’s not something that will shorten my life or that I’ll die from quickly.”

A video on Briones’ fundraising site,, features men from around the world — Australia to Taiwan to Michigan — with different symptoms at varying severity.

Kennedy’s Disease patients often are misdiagnosed with ALS, which has similar symptoms. The disease is difficult to diagnose because it’s not on doctors’ radar and requires genetic testing for confirmation, Briones said.

When Briones first experienced symptoms in his late 30s, he thought he was just feeling the effects of aging, so he started to work out daily. Briones, who actively played tennis, snowboarded and danced until his mid-30s, noticed though that he wasn’t building muscle. His muscle cramps and spasms worsened, and workouts would leave him feeling unusually fatigued and sore.

After many doctor consultations, blood tests and an MRI that didn’t turn up anything, Briones and his wife discovered in online research that his symptoms matched Kennedy’s Disease. They asked for a DNA test and, sure enough, it was a match, Briones said. Briones later learned his mother was a carrier.

Because there is no cure or treatment, Briones has had to figure out how to live with the disease. His community through the Kennedy’s Disease Association is a big help. ..."

To reaad the entire article, follow this link: The Mercury News

Tuesday, March 7, 2017

Remarkable Canadian invention helps physically challenged

My January 29th blog post was on a new device that might revolutionize how people with mobility issues get around. Paul Lazenby is another person living with Kennedy’s Disease. He had the opportunity to test the Keeogo walking assist device. The Keeogo is designed for people with mobility challenges, but still have balance and some core strength.

The news report shows Paul testing the device for the first time. He looks confident and comfortable. When he took an unassisted step up at about the 1:40 mark, I said, “Now that is amazing.”

I congratulate Paul for taking the time to discuss Kennedy’s Disease in the video.

Click here to watch Paul strut across the room.

Paul provided some additional information on the Keeogo.  Batteries last 45 minutes for heavy climbing, 3hrs for walking.  Batteries change out easily, and recharge in about 20 mins. There is a tension control so there is less torgue while walking and the higher setting for stairclimbing. It really does power you up the stairs.

Had it on for two and a half hours, did multiple stairs (plus the big step several times leading with either foot) and walked a fair bit outdoors. The large step would be impossible for me normally without a railing or pushing on my knee with my hands. It really does make stairs effortless for me. When I was out walking, it feels a little awkward, because it still hasn't/won't adjust to my natural rolling pirate gait .. but.. I found my self whistling, and could carry on a conversation when normally I walk with teeth clenched and very focussed.

It feels very supportive and solid. The other gentleman who you see striding by in the video has a spinal cord injury and cannot walk straight or without a cane normally, has been using the device three times a week for the last month and is doing great. the computer actually powers one of his legs more than the other to give him a natural stride which he says is helping to relieve the strains his injury is causing to the rest of his body.

Sunday, March 5, 2017

NORD Issues Statement on President Trump’s Address to Congress

The process for expediting certain drugs has improved dramatically over the last decade. Yet, we need to keep the pressure on our representatives - lest they forget. There is still a lot of work to be done in finding a treatment for Kennedy's Disease.

NORD Issues Statement on President Trump’s Address to Congress

Posted by Jennifer Huron

NORD Issues Statement on President Trump’s Address to Congress

Washington, D.C., March 1, 2017—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, issued the following statement in response to President Trump’s first speech to Congress:

“Yesterday evening, President Trump recognized Rare Disease Day and the 30 million Americans living with a rare disease in his first address to Congress. We are grateful for his recognition of the day that raises awareness for all individuals with rare diseases and their families. We are elated that he is joining us in our efforts.

President Trump also recognized Megan Crowley, and her father John, as shining examples of the untiring, steadfast commitment individuals with rare diseases and their families bring to finding treatments and cures for their disease. The Crowleys are one of many superstar families that deserve recognition, and we are thrilled that their tireless work was recognized on such a large stage.

The President continued, stating, ‘…our slow and burdensome approval process at the Food and Drug Administration keeps too many advances, like the one that saved Megan’s life, from reaching those in need. If we slash the restraints, not just at the FDA but across our Government, then we will be blessed with far more miracles like Megan.’

We agree that FDA review processes can be improved upon to expedite the development and review of orphan drugs. Yet we disagree with the President that restraints must be slashed, or that the approval process at the FDA is preventing advances from reaching those in need.

Between 2008 and 2013, 87 percent of the 113 rare disease treatments reviewed by the FDA received an expedited review, compared to 35 percent of treatments for common diseases.[i] Seventy-eight percent of rare disease treatments were approved using one or more flexible development approaches (generally defined as an approach that does not include two adequate and well-controlled trials or uses novel endpoints).[ii]

For patients with immediately life-threatening illnesses who cannot participate in clinical trials, the FDA approves 99.5 percent of all expanded access requests submitted by physicians and companies. ..."

To read the rest of the statement follow this link: NORD Statement 

Tuesday, February 28, 2017

Rare Disease Day - Raising Awareness for Kennedy's Disease

Today, February 28, is Rare Disease Day.

Every few days a baby is born with this DNA defect

The defect is in the ‘X’ Chromosome and it makes testosterone almost a poison to the body. The disease is Spinal Bulbar Muscular Atrophy; more commonly known as Kennedy's Disease.

Since there is currently no treatment or cure for this defect, a boy will grow up not knowing when the disease will begin to attack his motor neurons and muscles. Often it begins with painful cramping and uncontrollable muscle spasms. Over time it will attack most of his muscles often making it difficult to even swallow liquids.

As the disease progresses, the motor neurons will begin to die and the muscles will waste away. Eventually, he will have mobility issues and might require a wheelchair. Many will be forced into early retirement and almost every one of them will worry about the financial welfare of his family. Pneumonia will become as feared to him as any disease because of his inability to clear the lungs of phlegm. If he becomes a father, he will live with the knowledge that his daughters are carriers of the defect and could pass it on to future generations of his family.

Even though the defective gene has less of a physical impact on females, they might also experience several of the symptoms later in life.

Fred Briones put together this short video that shows families from all over the world living with Kennedy's Disease. Great job, Fred!

Thursday, February 23, 2017

Phlegm Story - Part II

Back in October of last year, I wrote an article, ThePhlegm Story. At the time, it seemed I was in a never-ending battle with phlegm. It wasn’t just the quantity of phlegm, it was also the thickness of it. Looking back, I am amazed how the issue affected my daily life and my strength.

I am pleased to report that for the last two months the phlegm issue is under control. Let me tell you what I discovered and what I did about the problem.  Note: Please check with your doctor before trying anything drug related, even if it is over the counter.

First, I had a good discussion with my doctor about the issue. He came up with two potential causes and we discussed what to try initially.

Second, I found that certain foods generate far more phlegm than others do. Dairy products are now consumed in moderation. Soy oil products can also be an issue. If I am aware of what I’m eating and when I eat them, it makes a difference. I try to consume phlegm-generating products for breakfast or lunch. This gives me several hours to clear my system before bedtime.

Third, choking generates an over-abundance of phlegm. If I am cautious when chewing and swallowing, the choking issue is not an issue or at least an infrequent issue.

Fourth, when I am generating more phlegm, a half-teaspoon (2.5 ml) of guaifenesin (i.e. Mucinex or a similar generic product) in the evening clears the problem right up within a few hours. Only rarely in the beginning did I have to take a half-teaspoon earlier in the day.  And, remember to drink more water when using guaifenesin. I find it helpful to have a glass of water first thing in the morning.

A side effect of this phlegm issue was the constant clearing of my throat (several times an hour). Recently, I might clear my throat 3-4 times a day. 

Friday, February 17, 2017

Gene Therapy for Neurodegenerative Diseases

SMA News Today published an interesting article. Perhaps another opportunity for us living with Kennedy's Disease.

INT41 Gene Therapy for Neurodegenerative Diseases Granted Priority Patent Status

The patent application for gene therapy candidate1 INT41, developed by Vybion for the treatment of Huntington’s disease, spinal muscular atrophy (SMA), and other neurodegenerative diseases, was granted Track One status from the U.S. Patent and Trademark Office (USPTO).

The patent application covers the treatment’s composition and methods of use. The Track One designation gives the application priority review, allowing it to get a final decision within about a year. Track One has fewer requirements and doesn’t need a pre-examination search for the application.

“Vybion is pleased to receive Track 1 status on INT41 and anticipates rapid review and allowance,” Vybion CEO Lee Henderson said in a press release.

INT41 gene therapy was specifically designed to target neurologic diseases caused by polyQ expansions, resulting in mutant proteins that accumulate in motor neurons and subsequently lead to cellular degeneration. The gene therapy aims to detect and target the “toxic” sequence, promoting its degradation and thereby preventing its accumulation in neuronal cells. ...

... INT41 is considered a potential therapeutic strategy for other neurodegenerative diseases with similar biological features, such as spinal cerebellar ataxia, Alzheimer’s disease, and spinal and bulbar muscular atrophy (SBMA). However, the treatment has so far been more fully developed for Huntington’s, according to Vybion’s drug pipeline, and more studies are required to validate its effectiveness and safety for it and other neurodegenerative conditions. ...

To read the entire article click on the title above.

For those that want to read the actual study, follow this link. Journal of Neurodegnerative Diseases

Wednesday, February 15, 2017

Human Gene Editing

I have written posts a few times in the past about CRISPR, a technology that allows the editing of human genes. In my current book I'm writing, the idea of gene editing is an important aspect of creating super-healthy children.

The New York Times published the following article today. As with anything revolutionary in nature, their is controversy surrounding it.

Human Gene Editing Receives Science Panel’s Support

"An influential science advisory group formed by the National Academy of Sciences and the National
Academy of Medicine on Tuesday lent its support to a once-unthinkable proposition: the modification of human embryos to create genetic traits that can be passed down to future generations.

This type of human gene editing has long been seen as an ethical minefield. Researchers fear that the
techniques used to prevent genetic diseases might also be used to enhance intelligence, for example, or to create people physically suited to particular tasks, like serving as soldiers.

The advisory group endorsed only alterations designed to prevent babies from acquiring genes known to cause “serious diseases and disability,” and only when there is no “reasonable alternative.” The report provides an explicit rationale for genetic research that the federal government has avoided supporting until now, although the work is being pursued in countries like Sweden and China.

So-called germ line engineering might allow people to have biological children without fear that they have passed on the genes for diseases like Huntington’s, Tay-Sachs and beta thalassemia, and without discarding embryos carrying the disease-causing mutations, as is often done now. Though such cases are likely to be rare, the report says they should be taken seriously. ..."

Follow the link above to read the rest of the article.

Saturday, February 11, 2017

Another interesting mobility device

I came across this link for the Tek-RMD on the KD-UK Facebook page.

The device has some interesting features. What interested me most was the one video where the man was able to sit down in an ordinary chair. It has been a couple of years since I gave that up. I do miss the recliners and watching television from an easy chair. They are definitely more comfortable. It would be great in the kitchen, especially with the higher cupboards. I liked the remote control option. You can park it somewhere else after you have transferred to a bed or chair. I am also curious how stable it is. And, could you comfortably sit back in the seat strap?

Operating Information:
  • The maximum grade of climb is 3%
  • The range is 3.7 Miles (6km)
  • Load Capacity 264 lbs (120kg)
  • Turning Radius 23.6″ (60cm)
  • Weight (empty) 242.5 lbs (110kg)

Potential Issues:
  • The small wheels might not work well on carpets or safely drive over small ridges/bumps
  • Throw rugs might bunch up when turning
  • It is currently designed for a paraplegic
  • Hand and arm strength is required for self-mounting (how much arm strength)
  • What kind of pressure does this place on your leg joints?

I will definitely bookmark this webpage and continue to follow the evolution of the device.