Tuesday, August 15, 2017

Long-term treatment with leuprorelin for spinal bulbar muscular atrophy

A gentleman living with Kennedy's Disease sent me the following email. I remember the initial trial years ago, but I wasn't aware researchers continued it. The link for the actual study is at the bottom of his message. I forwarded this to Dr. Fischbeck to see if he has any thoughts on the study.

In a conversation for Dr. Fischbeck several years ago, he mentioned the difficulty of measuring results in short term clinical studies because SBMA progresses slowly. This study is 84-months long and I assume is easier to quantify the results.

Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study
"Recently they published a new, interesting study about long term therapy of SBMA. It is an old candidate: leuprorelin. As you may know, there were two previous (phase 2 and 3) trials with leuprorelin, done in Japan, the second one is the JASMITT study. After continuing the treatment of 36 patients from the previous studies, the same researcher group have now new data with leuprorelin.
  1. They have data from 84-months follow-up, with hard endpoints. 
  2. They showed significant difference in several functional scores, compared to no-drug controll. 
  3. Maybe most importantly, there was a significant difference in the event-free survival (death or pneumonia). The similar trend was in the risk of death, however it was not significant, they suppose because of the low statistical power (i.e. number of patients) of the study, and the slow progression of the SBMA. However, pneumonia is a very important event in SBMA since aspiration is one of the biggest, deadly threat in this disease. 
  4. The final conclusion from the article: "In conclusion, this study showed that the continuous administration of leuprorelin acetate appears to slow the progression of motor deficits in subjects with SBMA. In addition, pneumonia-free survival in SBMA would be extended by long-term treatment with leuprorelin acetate, suggesting disease-modifying effects of androgen deprivation by leuprorelin acetate."

As far as I know, it is one of the longest, controlled trial in patients with SBMA. I think we may reconsider the therapeutic possibilities of antiandrogens, and I guess we will hear about in the near future. It would be nice to know Dr. Fischbeck's comments.

It is important to keep in mind that everyone have to talk his physician first.

Here is the abstract of the article: http://jnnp.bmj.com/content/early/2017/08/05/jnnp-2017-316015 , unfortunately the full-text version is not free-access."
Note:  The original post on the trial can be found here:  Leuprorelin

Friday, August 11, 2017

Muscle Tissue Changes with Aging

I caught a comment last night while watching TV that was interesting. The body loses an average of 5% of its muscle tissue with each decade after 30. It made me realize the double jeopardy those of us living with a progressive muscular disorder face.

I turned 70 this year. Over the last several years, I noticed my muscle mass appeared to decline more rapidly. Initially, I concluded this was more a perception and not reality. After reading this study, I now believe it is true. Interesting.

Today I did a little research and came across the following NIH study. Follow the link in the title to read the entire article.

“Purpose of review

This review article focuses on the changes that occur in muscle with age, specifically the involuntary loss of muscle mass, strength and function, termed sarcopenia. Particular emphasis is given to the metabolic alterations that characterize sarcopenia, and to the potentially treatable causes of this condition, including age-related endocrine and nutritional changes, and inactivity.


One of the most striking effects of age is the involuntary loss of muscle mass, strength, and function, termed sarcopenia. Muscle mass decreases approximately 3–8% per decade after the age of 30 and this rate of decline is even higher after the age of 60. This involuntary loss of muscle mass, strength, and function is a fundamental cause of and contributor to disability in older people. This is because sarcopenia increases the risks of falls and vulnerability to injury and, consequently, can lead to functional dependence and disability. A decrease in muscle mass is also accompanied by a progressive increase in fat mass and consequently changes in body composition, and is associated with an increased incidence of insulin resistance in the elderly. Furthermore, bone density decreases, joint stiffness increases, and there is a small reduction in stature (kyphosis). All these changes have probable implications for several conditions, including type 2 diabetes, obesity, heart disease, and osteoporosis.

Recent findings
Recent data reported include those regarding the potential role of insulin resistance in the development of sarcopenia, the potential role of androgens and growth hormone in the treatment of this condition, the usefulness of exercise including both resistance and aerobic training to improve muscle growth and function, and, finally, the possible use of nutritional manipulations to improve muscle mass.


Sarcopenia is likely a multifactorial condition that impairs physical function and predisposes to disability. It may be prevented or treated with lifestyle interventions and pharmacological treatment. Further long-term investigations are needed, however, to ascertain what type and combinations of interventions are the most efficacious in improving muscle mass and function in older people. …”

Image:  myheart.net

Thursday, August 10, 2017

CRISPR - Gene Editing Explained

A man living with Kennedy's Disease posted this on Facebook. The short YouTube video (link below) does a good job of explaining what CRISPR is, how it works, and its potential. Those of us living with KD are very interested in the potential tools like CRISPR offer for future generations.

Video published May 24, 2017

CRISPR is a new area of biomedical science that enables gene editing and could be the key to eventually curing diseases like autism or cancer. WIRED has challenged biologist Neville Sanjana to explain this concept to 5 different people; a 7 year-old, a 14 year-old, a college student, a grad student and a CRISPR expert.

Saturday, August 5, 2017

Gene Editing Followup

A followup article in the New York Times by Pam Belluck dismisses some of the fears people have regarding Gene Editing. Since Huntington’s Disease is mentioned, that is a good sign for those of us with families living with Kennedy’s Disease. To read the entire article, follow the title link.

Gene Editing for ‘Designer Babies’? Highly Unlikely, Scientists Say

 “Now that science is a big step closer to being able to fiddle with the genes of a human embryo, is it time to panic? Could embryo editing spiral out of control, allowing parents to custom-order a baby with Lin-Manuel Miranda’s imagination or Usain Bolt’s speed?

News that an international team of scientists in Oregon had successfully modified the DNA of human embryos has renewed apprehensions that babies will one day be “designed.” But there are good reasons to think that these fears are closer to science fiction than they are to science.

Here is what the researchers did: repair a single gene mutation on a single gene, a defect known to cause — by its lonesome — a serious, sometimes fatal, heart disease. …”

“ … So are most physical diseases and psychiatric disorders. The genetic message is not carried in a 140-character tweet — it resembles a shelf full of books with chapters, subsections and footnotes.

So embryonic editing is unlikely to prevent most medical problems.

But about 10,000 medical conditions are linked to specific mutations, including Huntington’s disease, cancers caused by BRCA genes, Tay-Sachs disease, cystic fibrosis, sickle cell anemia, and some cases of early-onset Alzheimer’s. Repairing the responsible mutations in theory could eradicate these diseases from the so-called germline, the genetic material passed from one generation to the next. No future family members would inherit them.

But testing editing approaches on each mutation will require scientists to find the right genetic signpost, often an RNA molecule, to guide the gene-snipping tool.

In the study reported this week, it took 10 tries to find the right RNA, said Juan Carlos Izpisua Belmonte, a co-author and geneticist at the Salk Institute.

Dr. Greely noted that while scientists work to get human embryonic editing ready for clinical trials (currently illegal in the United States and many countries), alternate medical treatments for these diseases might be developed. They may be simpler and cheaper. …”

Thursday, August 3, 2017

The Last - I can only hope

A picture above my desk called, “The Last,” has a dual meaning for me. First off, I love the lithograph because it is so well done. To me it reflects the dying off of the American Indian culture. The second meaning is much more personal. I hope and pray I am the last male in my mother’s family with Kennedy’s Disease.

A NewYork Times article written by Pam Belluck reports on a recent study and potential milestone in genetic engineering. Nature,the International Weekly Journal of Science published the study this week. A portion of the article is shown below. Follow the links above to read the entire article and the study.

In Breakthrough, Scientists Edit a Dangerous Mutation From Genes in Human Embryos

“”Scientists for the first time have successfully edited genes in human embryos to repair a common and serious disease-causing mutation, producing apparently healthy embryos, according to a study published on Wednesday.

The research marks a major milestone and, while a long way from clinical use, it raises the prospect that gene editing may one day protect babies from a variety of hereditary conditions.

But the achievement is also an example of human genetic engineering, once feared and unthinkable, and is sure to renew ethical concerns that some might try to design babies with certain traits, like greater intelligence or athleticism.

Scientists have long feared the unforeseen medical consequences of making inherited changes to human DNA. The cultural implications may be just as disturbing: Some experts have warned that unregulated genetic engineering may lead to a new form of eugenics, in which people with means pay to have children with enhanced traits even as those with disabilities are devalued. …”

“… Scientists at Oregon Health and Science University, with colleagues in California, China and South Korea, reported that they repaired dozens of embryos, fixing a mutation that causes a common heart condition that can lead to sudden death later in life.

If embryos with the repaired mutation were allowed to develop into babies, they would not only be disease-free but also would not transmit the disease to descendants.

The researchers averted two important safety problems: They produced embryos in which all cells — not just some — were mutation-free, and they avoided creating unwanted extra mutations.

“It feels a bit like a ‘one small step for (hu)mans, one giant leap for (hu)mankind’ moment,” Jennifer Doudna, a biochemist who helped discover the gene-editing method used, called CRISPR-Cas9, said in an email. …”

"Desistance" is my current story I am in the final stages of editing. It is a Sci-Fi that takes place sixty years in the future. One of the storylines is the development of almost super-humans whose DNA has been edited to remove most of the known diseases. Perhaps it won’t be Sci-Fi after all.

Wednesday, July 19, 2017

Possible new therapy for motor neuron diseases

The University of Sheffield published the following news release yesterday. As always, additional research is required, but the premise is interesting.

New discovery in motor neurone disease and dementia could pave the way to novel treatments

"... When this series of nucleotides is expanded and repeated multiple times, neurodegenerative diseases can occur. The expansions of the gene forms genetic material called ‘R-loops’ which make the DNA vulnerable to breakages. They found that accumulation of R-loops and increased DNA breakage in neurons lead to neurodegenerative diseases.

Our cells have their own repair toolkits specially designed to fix breaks in DNA, however, the products of the expansion over-activate a process called autophagy – a process that gets rid of misfolded or “unwanted” proteins.

The new study, jointly directed by Professor Sherif El-Khamisy from the University of Sheffield’s Department of MBB and Professor Mimoun Azzouz from SITraN at the University of Sheffield, published today (17 July 2017) in Nature Neuroscience, shows that the expansion driven over-activation of this process can degrade some of the very precious DNA toolkits, meaning the cells will eventually die.

“We were able to shut down the out-of-control degradation process, which runs down the cell’s ability to fix genomic breaks, using genetic techniques,” said Professor El-Khamisy.

“Even though the DNA was still damaged, the cells were able to cope and did not die. Discovering this new mechanism and its consequence is a significant step towards developing new therapies for motor neurone disease and other neurodegenerative conditions. ..."

Click on the title to read the entire article.

Wednesday, July 12, 2017

Autophagy - akin to a garbage disposal system

I thought I published an article on this study, but cannot find it. So, here it is.

Target Identified For Rare Inherited Neurological Disease

Scientists show bad androgen receptor impairs body’s ability to dispose of damaged cells

Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility.

The study, published August 10 in the journal Nature Neuroscience, shows that a gene mutation long recognized as a key to the development of Kennedy’s disease impairs the body’s ability to degrade, remove and recycle clumps of “trash” proteins that may otherwise build up on neurons, progressively impairing their ability to control muscle contraction. This mechanism, called autophagy, is akin to a garbage disposal system and is the only way for the body to purge itself of non-working, misshapen trash proteins.

“We’ve known since the mid-1990s that Alzheimer's disease, Parkinson's disease and Huntington's disease are caused by the accumulation of misfolded proteins that should have been degraded, but cannot be turned over,” said senior author Albert La Spada, MD, PhD and professor of pediatrics, cellular and molecular medicine, and neurosciences. “The value of this study is that it identifies a target for halting the progression of protein build-up, not just in this rare disease, but in many other diseases that are associated with impaired autophagy pathway function.” ...

... “Our study tells us that if we can find a way to keep TFEB working, we likely can prevent this disease and others like it from progressing,” La Spada said. “We now have a target for new therapies to treat not only Kennedy's disease, but also many more common neurological disorders.”

Follow this link to read the entire article: UC San Diego News

Friday, July 7, 2017

Exercise! Are you kidding me?

If you are a frequent reader of my blog, you are aware of my feelings on the benefits of a regular exercise and stretching program. I exercise every day. I alternate between heavy (90+ minutes) and light days (30+ minutes). I exercise in the morning and in the evening. I don’t expect everyone to be as crazy as I am, but I do hope everyone will find a comfortable exercise routine that become part of your everyday routine.

Pulmonary and cardiac benefits, as well as joint lubrication and muscle memory, are the main reason I exercise. If I didn’t feel I was receiving any benefits from the routine, I wouldn’t do it.

Finding your own exercise program and routine is important. For that reason, I am including links to several articles on exercise and exercise programs. There are many more available on the internet, but these might be of benefit. As always, before starting any exercise program, discuss it with your doctor. And, if possible, have a physical therapist work with you initially to evaluate and recommend a program that fits your particular needs.

Monday, July 3, 2017

What Happened?

The Preamble of our Constitution states, "We the People of the United States, in Order to form a more perfect Union, establish Justice, insure domestic Tranquility, provide for the common defense, promote the general Welfare, and secure the Blessings of Liberty to ourselves and our Posterity, do ordain and establish this Constitution for the United States of America.

Tomorrow is Independence Day, Unfortunately, I have to ask what happened to our country? It appears Sir John Dalberg-Acton was right. “Power tends to corrupt, and absolute power corrupts absolutely.”

The United States is a "melting pot," a fusion of nationalities, cultures, and ethnicities - different elements "melting together" for the common good of all. 

I’m certain our foundering fathers couldn’t agree on everything. Each representative probably thought their way was the best for the country. Yet, they were able to set aside their differences and come together to create a nation. They knew the United States would not be perfect, nothing ever is. But, it would be far better than the alternatives.

They forged a nation that allows everyone 
  • to have an opinion
  • to practice their own beliefs
  • to disagree without fear of retaliation
These are our rights. 

Not everything has to be an “all-or-nothing” situation. Compromise shouldn’t be considered a weakness. Meeting somewhere in the middle allows for “Win-Win” situations for the common good of all.

I wish you a safe and happy 4th of July

Saturday, July 1, 2017

Happy Independence Day to our Canadian Brothers

From the History Website:

"On July 1, 1867, with passage of the British North America Act, the Dominion of Canada was officially established as a self-governing entity within the British Empire. Two years later, Canada acquired the vast possessions of the Hudson’s Bay Company, and within a decade the provinces of Manitoba and Prince Edward Island had joined the Canadian federation. In 1885, the Canadian Pacific Railway was completed, making mass settlement across the vast territory of Canada possible."

Monday, June 26, 2017

It is that time again ...

Health care is in the news and it is time to take action once again. The MDA Advocacy Group is asking for our help.

Health Care Reform

As health care reform debates continue in the Senate, MDA remains committed to advocating for principles of coverage set out in conjunction with leading national patient organizations that establish key elements necessary for adequate health care coverage.  The principles require that meaningful access to care be affordable, accessible, adequate and understandable.  In addition to these elements, maintaining a robust Medicaid program is essential to ensuring our community has access to the care it needs.  In May the U.S. House of Representatives passed its version of health care reform, and now that the U.S. Senate is working on its bill, we continue to work with the Senate and encourage all members of Congress to engage in a bipartisan effort to find solutions to the challenges with access to care and with maintaining the critical protections set out in the Medicaid program.  Thank you to all advocates who reached out to your members of Congress earlier this spring to advocate for the principles of coverage and Medicaid protections.  As the Senate considers its bill this week, we urge you to again ask your senators to keep the priciples of coverage in mind when moving their bill forward, and to highlight the importance of Medicaid coverage for the neuromuscular disease community.

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.

Photos: Military.com

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: https://en.hdbuzz.net/217

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:  http://emedicine.medscape.com/article/1172604-overview

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