The end of another year

My legs went into a slide in early November. The quads and left knee weakened dramatically. Several times a day I felt the left knee was going to buckle on me. I haven’t experienced anything like this in years. At times it was difficult not to become too concerned about my future capabilities. Compromise and compensation, leverage and innovation—I tried everything I could think of. I was not going to give up or give in.

Some days I could only accomplish 50% of my normal standing leg exercises. I was also finding it difficult to pull up my pants after using the toilet. Several times it took 2-3-4 attempts while having to rest for a moment or two between attempts. Occasionally I had to have my wife help. Frustration and even anger wedged its way into my normal positive attitude. But, I am a stubborn cuss.

I never gave up trying to complete my standing exercises. I pushed myself while always considering my safety. Over time I was able to regain enough strength to perform 80% of my previous reps. A week ago I wrote in my KD exercise journal that perhaps this was the new normal for me, but I still refused to accept it.

This morning when I first stood up I sensed a strength in my legs that I haven’t felt in a couple of months. When I began my standing leg exercises I could feel a difference—a confidence in my leg muscles. Muscle-memory kicked in and I found myself smiling. I performed 120 steps in place without a problem. I then performed 100 standing leg lifts without breathing hard. I was on my way and life couldn’t be any better.

I don’t know what the new year will bring, but I can tell you it is ending in a most gratifying fashion.

Be well and stay upright!

Mule Photo: http://likesuccess.com/topics/6261/stubborn

Happy New Year Photo: http://www.wishespoint.com/

Wheelchairs and Winter

The article below appeared on several of the Kennedy’s Disease Facebook pages a week ago. It is on the Rick Hansen Foundation website and is a good reminder to follow the Boy Scout Moto, “Be Prepared.”

Winter is tough on those of us living with a progressive disorder. What we could handle last year is more difficult today. Where we once enjoyed the season, it is barely tolerable today. Ice was once for skating. Now it is almost impossible to just safely navigate. Snow was for playing and shoveling back then. Today is keeps you indoors. Salt and sand were good for traction and a melting aid. Now it just messes up your chair and could cause considerable damage. And, if you break down or become stuck in the winter, it could become a life-threatening event.

The Wheelchair User’s Guide to Surviving Winter

Written by Heather Kuttai

“Alarmed would have been an understatement when I saw them: dark purple-black spots on all of my toes. “What on earth are those?” I thought. Considering the circulation problems I have had with my feet, panic struck: “It couldn’t be gangrene, could it?!”

It wasn’t. Luckily, I had a doctor’s appointment the next morning. “Frostbite,” he declared, and then frowned my sneakers. “It’s -20 outside. What part of living in a Canadian winter do you not understand?” …”

Click on the title to read the entire article.

And, speaking of wheelchairs, check out this article to read about this handy app.

GoogleMaps now shows if a location is wheelchair accessible

“Google Maps, an app favored by nearly 70 percent of iPhone users, will now list wheelchair accessibility alongside information like traffic and store hours. The new addition makes using the app easier for people with disabilities, as well as parents with strollers and the elderly.

A team of Google employees, led by Google Drive product manager Rio Akasaka, took advantage of a dying company policy to make Google Maps accessible for people with physical disabilities. The famous 20 percent policy, announced by Google founders Larry Page and Sergey Brin in 2004, encourages employees to spend up to 20 percent of their working hours concocting personal projects that might benefit the company. …”

Click on the title to read the entire article.

Be safe and stay upright.

Merry Christmas and Happy Holidays

The other day my four-year-old great-grandson, Chase, called. He and his Grandma Jan had been busy making cookies, gifts, snowflakes, and ornaments. He sang me his favorite Christmas song—the one he sang to Santa the previous day. Grandma also shared several photos of Chase engaged in these and other holiday activities. During the course of our conversation I realized, “He is the spirit of Christmas.” After the call, I felt such joy in my heart for the gift this special boy gave me. 

Christmas is a time of reflection for me. Some of my fondest childhood memories are of candlelight services where the entire family sang their hearts out and then returned home to enjoy a midnight dinner of chili or spaghetti with homemade buns. My wife's family has their own beautiful traditions that we all enjoy.    

The holidays are about peace and love, and family and friends. In this spirit-rich season, we reach out to all those who have blessed our lives. We might not be physically together, but you are never more than a thought away.

And please don't forget the service men and woman, and their families, during this special season. 

From our house to yours, we wish you health and happiness, mixed in with a lot of love, because they are the greatest gifts we could ever receive.

Merry Christmas and Happy Holidays

Swallowing Difficulties?

Many of us living with a progressive neurological disorder notice the throat muscles weakening over time. There are several good exercises available to help improve or maintain your current capabilities. A physical therapist can be of  help.

I perform the following exercises every day, often twice a day, and it seems to help.

1. Stick Out Your Tongue: Bite down lightly on your tongue to hold it in position. Swallow ten times (or more) while holding the tongue between the teeth. Perform this exercise every day

2. Large Smile: Make the sound “EEEEEEEEEEEEEEEEEEEEEE” as you stretch your mouth muscles into a large smile. You should be able to feel throat muscles vibrate (stretch).

3. Pucker your Lips: Make the sound “OOOOOOOOOOOOOOOOOOO” as you pucker you lips. You should once again be able to feel your throat muscles vibrate (stretch).

Please note the study below. Only six patients were tested, but the information might be helpful.

Head Lift Exercise Improves Swallowing Dysfunction in Spinal and Bulbar Muscular Atrophy.

Abstract

BACKGROUND:

Dysphagia due to bulbar involvement is a major symptom of patients with spinal and bulbar muscular atrophy (SBMA). The aim of this pilot study was to test the efficacy and safety of the head lift exercise for swallowing dysfunction in SBMA.

METHODS:

We enrolled 6 subjects with genetically confirmed SBMA and instructed them to perform the head lift exercise for 6 weeks. The efficacy outcome measures were the changes from baseline in tongue pressure, the scores of swallowing functional questionnaires, and the motor functional scales and parameters of videofluorography (VF).

RESULTS:

All subjects completed the study and no major adverse effects were recorded. Tongue pressure significantly increased by 19.2 ± 0.15% (p < 0.05) after the 6-week head lift exercise. The scores for oral dysphagia also improved, although there was no significant change in VF parameters or other variables examined pre- and post-exercise.

CONCLUSION:

Our findings suggested that the head lift exercise may improve swallowing dysfunction, particularly tongue pressure, in SBMA.

The Head Lifting Exercise is shown below. You can download it from Dr. Shaker’s website also.

One Million Page Views!

On August 8, 2009, I published my first blog post. In it, I came out of the closet and announced to ‘the world’, or at least to the fifteen initial readers, that I am willing to talk about Kennedy’s Disease (SBMA). I admitted I was a ‘rare bird’ and there are thousands of others in this world that are members of this family—many who are undiagnosed or misdiagnosed. When I wrote the article, I never considered thousands of people would visit my blog. It was meant to be a vehicle for me to be more open about this condition I live with every day.

My wife tells me that if something needs a one or two sentence answer, I can find a way to write an entire story on it. She’s right. I have always had the gift of gab. She calls it a curse.

When the blog hit a thousand page views and had dozens of comments, my head was swimming. The first hundred thousand page views seemed to take forever, but when it happened, I was flying high. Nothing could be better.

Seventy-six months and 725 articles later, another major milestone was achieved—one million page views. Never in my wildest dreams did I ever consider it a possibility.

According to Google Analytics, the blog averages 15-17,000 page views every month from readers around the world. And, I continue to receive 2-3 comments or emails every day–many of which require an answer.

To all who have supported my efforts to make Kennedy’s Disease something to talk about, I thank you. You have blessed my life in many ways. Thank you also for forgiving my spelling and grammar errors. By reading my posts, you told me the message meant more than the mistakes.    

Below is an excerpt from the original post. If you want to read the entire post, follow the link.

Okay, I admit it …

“I have Kennedy’s Disease. There, I said it! Whew ... That wasn't so hard.

Kennedy's Disease is an X-linked, adult onset, progressive muscle disorder. I often refer to it as the poor man’s version of ALS. Kennedy’s Disease does not show up until later in life and it gradually erodes your strength by killing off the muscles and motor neurons in your body. Doctors classify it as rare disorder and estimate that 1-in-40,000 men have it. There is no treatment or cure for the disease. Living with the disease reminds me of the paradigm, “Is it more difficult to face life being blind from birth or to lose your sight later in life?” I realize that neither are good options, but is one worse than the other? Is it more difficult to lose something that you had or never to have experienced it in the first place? Realistically, what does it matter? You are still blind ... or, in my case, physically handicapped.

Several people have asked why Kennedy’s Disease is called a “disease” when it is actually a defect in our DNA. When I looked up the word “disease” in the dictionary, it provided a clearer understanding. A disease is “an impairment of health or a condition of abnormal functioning.” Well, that explanation does fit pretty well. Kennedy’s Disease is a condition of abnormal functioning of the androgen receptors that fire the motor neurons. I still like the scientific name of Spinal Bulbar Muscular Atrophy. Now that is descriptive and it does not sound like something contagious. Does my being bothered by the word “disease” just show an increased level of frustration? Why should it matter what it is called? All I know is that I am still a “man,” but I no longer feel manly. I feel emasculated because something was stolen from me that I prize. …”

The MDA Advocacy Newsletter just announced that the 21st Century Cures legislation passed the House and Senate. This is good news and another positive step forward in healthcare and research..

____________________________________

21^st Century Cures

After more than two years of bi-partisan effort, a final version of 21^st Century Cures legislation (H.R. 34) passed in both the House and the Senate. You will recall that in July 2015, the House passed an earlier version of the bill (H.R. 6) and that multiple individual provisions similar to those in Cures also moved along in the Senate committee over the course of the year. The version of Cures passed by Congress this week represents a larger and more comprehensive bill that evolved over months as the House and Senate worked together. The next step is for the bill to be signed into law, which should happen quickly as President Obama has voiced strong support for the legislation.
21^st Century Cures includes many provisions that impact the discovery, development and delivery of treatments and cures for disorders under MDA's umbrella, and that impact access to services including:

• Increased biomedical research funding;
• Increased support for and modernization of regulatory review and oversight;
• Incentives for rare disease drug development;
• Advancing targeted therapies (S. 2030);
• Increased incorporation of the patient voice in drug development; and
• Six-month delay in implementing planned cuts for complex rehabilitative technology.

People with Disabilities and Healthcare

This chart was shared on the KD-Canada Facebook Group page. The chart was prepared by the World Health Organization (WHO) to express the need for reform in our healthcare systems. It does an excellent job of conveying  a message concerning people living with a disability. Click on the chart to enlarge it.

This Chef Won’t Let His Diagnosis Cripple His Career

Whenever I come across stories of others living with Kennedy’s Disease, I feel compelled to share their stories. Everyone deals with the news in different ways, but everyone goes through many of the same steps that I did forty years ago. This is why my blog is titled, “Living with Kennedy’s Disease.” After the shock, after the ‘no way’ denial, and the first moments of ‘oh my God’, we begin the process of learning to live with this condition.

This is another man’s story. The article, written by Sarah Freeman, is in Muchies, an online service from VICE. A short excerpt is found below.

“The 38-year-old chef’s symptoms started less than a year ago with difficulty walking up and down the stairs. A visit to a physical therapist led to another with his sister-in-law, a neurologist at the University of Chicago. There, he underwent a battery of painful tests, including having needles inserted into every major muscle group on the right side of his body, from his hand to his chef’s knife tattoo-covered calf, and then getting shocked. “Everyone was talking about it in excited voices, but not good excited, and not telling me what the f…’s going on.”

In February, a blood test confirmed a diagnosis of Kennedy’s Disease, an inherited motor neuron disease that disrupts nerve cell transmission signals from the brain to the brain stem and spinal cord. Due to its rarity—about one in 40,000 people have it, according to the Kennedy’s Disease Association—it’s a difficult disease to peg and is often misdiagnosed as amyotrophic lateral sclerosis, or ALS. Unlike the latter, there is no treatment for Kennedy’s Disease, aside from pain management for the muscle cramps that are an early and continuous symptom. His brother and niece were tested shortly later and also diagnosed. Women, however, are typically only carriers and rarely symptomatic.

“This sealed the deal on me and my wife not having kids,” Jacobs says.  … ”

Did you miss the KDA Conference and Educational Symposium?

I did too. I understand there was 104 attendees.

Six of the clinical presentations are posted on the KDA website. I know, it isn't the same as being there and having the presenter explain each slide and answer questions, but it is better than nothing.

Personally, I found the one on Pain and Kennedy's Disease to be enlightening. And, Dr, Jordan's presentation on what causes all these crazy things to happen is challenging a lot of what we were told. I am hoping it leads to breakthroughs.

You might also want to check out Paul Lazenby's Facebook comment on the SFN Conference that Paul attended after the KDA Conference.

SBMA Study published regarding the AR113Q Muscle

This research paper was published a month ago.

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

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

Highlights

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

Summary

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

I love Thanksgiving

Thanksgiving is an important time of year for me. It is a time when our family gets together to 'break bread' and share our thoughts. Once everyone sits down, and we all hold hands to pray, sighs can be heard around the table. At that moment, everything is all right.

It is easy to focus on the negative things, but Thanksgiving gives us an opportunity to say THANK YOU for all the good–for all the blessings in our lives.

Today, I am thankful for …

• The men and women of our armed forces, and their families. They sacrifice so much without adequate appreciation, compensation or reward.
• For the fire, rescue and police men and women who are there for us in time of need.
• Being able to live in this country. We often complain about what is wrong, but we seldom say thank you for all that is right. I would not want to live anywhere else.
• The doctors and researchers who are searching for a treatment or cure. I have said it before, but without them there would be no hope.
• My wonderful, thoughtful, patient, understanding and beautiful wife. She makes life worth living every day.
• Both of our families, as well as our friends and neighbors. These people are my support system. Life without family and friends would be pretty miserable and boring.
• My overall health and the health of our families. Too often we take this for granted until something bad happens.

From our house to yours, have a safe, 

healthy and happy Thanksgiving

Photos from Littlethings.com, wikipedia,and wikimedia 

As a kid, I loved slides

… but they sure aren’t any fun these days. Thr rapid progression (loss of strength) is rather scary.

Early last week my legs started giving indications of a slide. For the next four days strength and capabilities diminished. By Saturday I was not a ‘happy camper’. I should know better because I have been through more than a few of these battles over the last 40 years, but I still think the worst for a day or two.

Saturday afternoon I had enough of the wallowing in frustration and took an accounting of what might have got me here. Even though I exercise several times every day, over the last few weeks I often spent four-to-six hours just sitting. I realized this was not my normal routine.

So, sitting on the throne that afternoon, I decided to change my modus operandi. Every two-to-three hours I was going to stand up and perform a couple of short exercises. Three times that day seemed to make a difference the next morning. Six times yesterday felt even better. I could tell I was on my way back.

I’m not 100% back, but today I feel 90+% back to normal.  

I believe Henry Ford said, “If you always do what you’ve always done, you’ll always get what you’ve always got.” This also holds true in my personal life. If I don’t like the results, I need to do something different.    

Photo: Giant Bomb

Kennedy’s Disease BVS857 Trial

Many of us have been patiently awaiting the published report on the recently concluded Kennedy’s Disease BVS857 trial at NIH. Two of the attendees provided the following information on the trial. Once the actual paper is published, I’ll provide a link to it

.

Dr. Kenneth Fischbeck of the NIH gave a report on this trial at the KDA Conference in San Diego last week. He stated that while there were some modest positive results it did not meet expectations. In part that may have been because they only conducted the trial for 12 weeks and the nature of the drug and its effect would suggest slowly increasing benefits over an extended time frame.

The compound was intended to improve insulin sensitivity in people with KD and boost the anabolic effects of insulin and IGF1. Unfortunately, it also stimulated an immune response in some patients taking it producing anti-bodies that not only attacked the drug but also attacked the person's own insulin or IGF1. Fortunately for those affected after discontinuing the drug the immune response faded. Novartis aborted their trial plans and terminated further investigation of the compound.

The following is a quote from Dr. Fischbeck. “We too are disappointed that the Novartis agent was not more effective, but we are optimistic that the results from this trial will help in developing a treatment that really works for Kennedy’s disease. The study gave us information about muscle imaging and clinical outcome measures that will improve the design of future trials, and it helped to set up a network of trial sites that will allow clinical studies to be done more efficiently. Also, it gave an indication in the effect on muscle size that other drugs targeting the same pathway might be effective.”

Our Greatest National Debt

I am recycling a post from 2011. Let's never forget what these men and women, as well as their families, sacrificed to serve our country.

___________

In this morning’s paper was a well written commentary by Fang. A. Wong titled, “For those who served.” Mr. Wong brought forward the case that even though our national debt was a very serious issue, the biggest national debt is that which America owes to its veterans. He proposes that November 11, Veterans Day, is the “perfect opportunity for us to take a historical audit on just how much this nation owes to her heroes.”

The author commented, “Our debt to these heroes can never be repaid, but our gratitude and respect must last forever.” Mr. Wong said that less than 10% of Americans are veterans. “... American warriors do not complain. They endure. Warriors make do with less. Warriors finish the job, no matter how hard, no matter what is asked.”

He asks us to remind our lawmakers that there is a debt we all owe to those who served. The author concludes his article with a statement from George Washington. “The willingness with which our young people are likely to serve in any war, no matter how justified, shall be directly proportional as to how they perceive the veterans of earlier wars were treated and appreciated by their country.”

They sacrifice so much

It will be easy for us to just go about our normal routines this Friday, November 11, and not really consider all who have sacrificed so much to defend our country and fight the battles our government believes are worthwhile. Our current armed forces and our veterans are not the only ones who sacrificed something. Their families (mothers, fathers, siblings, spouses and children) also gave up so much. For example, service men and women as well as their spouses and children give up jobs, homes, schools, friends and a certain amount of security to serve. The spouses and children also have to live with the daily uncertainty of ‘if’ and ‘when’ they will be reunited again. Can you imagine what it is like for a child living with that uncertainty every day?

Service men and women come home today to an economy and job market that is scary to say the least. If they were seriously injured, the prospects for a normal life are even more difficult to comprehend. We need to ask ourselves whether we, as a nation, are serving our veterans as well as they have served us. I believe that answer is ‘NO’.

How can we help?

Some of you might not know where to get started. Read the online article, “11 Ways to Help Veterans.” It provides several opportunities to help.

Some ways are as easy as:

Giving a veteran a ride to a V.A. hospital.
Providing foster care for their pet.
Donating old cell phones and DVDs.
Cutting out food coupons (military families can use them for six months past the expiration date).

At the very least, they need to know that we are aware of what why and their loved ones sacrificed. You can do that by just shaking their hand and saying,

“Thank you for your service.”

Let’s start repaying our greatest national debt by honoring those who serve and have served.

2016 Research Grants Awarded

The Kennedy’s Disease Association announced the recipients of the 2016 research Grants. The following projects have been awarded $50,000 each. Congratulations!

Dr Bilal Malik, Professor Greensmith’s Lab, UCL, Institute of Neurology, UK

Targeting pathways of disease in Spinal Bulbar and Muscular Atrophy (SBMA)

Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy’s disease (KD), is adult-onset slowly progressing rare inherited neuromuscular disorder that primarily affects males. As yet there are no effective treatments that can cure the disease or delay its progression. The disease is primarily characterized by muscle weakness and wasting, and degeneration of motor neuron cells within the spinal cord and brain.

Our aim is to establish why motor neurons and muscles degenerate in SBMA by investigating the genes and pathways that underlie disease. The identification of changes that occur early in disease may identify the mechanisms responsible for disease and help establish novel therapeutic targets. This proposal offers the unique opportunity to undertake a comparative study of two platforms that model SBMA, each with its own merits: i) a well-characterized mouse model in which muscle and motor neurons can be examined at various stages of disease, and ii) human cell models, including stem-cell derived motor neurons and patient muscle cells acquired from biopsies. By comparing and contrasting the changes in gene expression in these models of the specific cells affected in SBMA we hope to identify the key changes in gene expression that take place early in disease, identifying a common signature in the pathways of pathology. The results of this study will not only help define novel therapeutic targets with a greater level of confidence by analyzing several complimentary models of SBMA, but also allow us to test treatment strategies in a human cell model of the disease.

 ________________________

Dr. Janghoo Lim, Yale University School of Medicine

The role of VCP in the pathogenesis of Kennedy's disease

Spinal and Bulbar Muscular Atrophy (SBMA; Kennedy’s Disease) is a neuromuscular disease that affects motor neurons and skeletal muscles. The symptoms of SBMA include progressive weakness of the limbs and facial muscles, as well as difficulty with speaking and swallowing.  SBMA is an X-linked disease that primarily affects men, and is caused by a polyglutamine expansion in the gene Androgen Receptor (AR). The polyglutamine expansion in AR makes the protein toxic, and can lead to the formation of protein aggregates inside of cells as well as cell death. SBMA is one of nine different polyglutamine expansion disorders that are linked to neurodegeneration. How polyglutamine expanded AR causes SBMA is still being studied, and there are no effective therapeutics available. In order to better understand the mechanisms that cause SBMA and translate these results into the development of effective therapeutics, my proposal aims to assess how the protein Valosin-Containing Protein (VCP) is involved in SBMA.  VCP plays a role in breaking down mutant or damaged proteins, and has been studied in other neurodegenerative disorders. Based on our preliminary data, we hypothesize that VCP can regulate the expression and/or the activity of polyglutamine expanded AR. Our proposal will examine how VCP affects the development of protein aggregates and cell death in SBMA. We will use cell culture models and fruit flies, both of which are commonly used to study SBMA. This research will help develop a more thorough understanding of what causes SBMA, and provide important information when developing new therapeutics for this devastating disease.

_________________________

Manuela Basso, Ph.D., Assistant Professor, Laboratory of Transcriptional Neurobiology, Centre for Integrative Biology, University of Trento, Italy

Insights into the molecular pathology of SBMA: Targeting PRMT6 to attenuate the disease

In collaboration with the Laboratory of Dr. Pennuto, we have recently discovered that a protein, called PRMT6, exacerbates the toxicity induced by mutant androgen receptor, while its inhibition rescues it in cells and flies. Our strategy is to develop a therapy that preserves AR physiological functions while abolishing the toxicity acquired upon polyglutamine expansion. Thus, we propose to silence PRMT6 both via selective pharmacological inhibitors and via gene-silencing to choose the best system to move our studies in pre-clinical models.

Critical Illness and Long Term Disability

October 3rd I reported about Royal London Insurance adding Kennedy's Disease to their list of Critical Illness Coverage. I felt this was an important step and hoped other companies would follow in their footsteps.

This afternoon I read a nicely written piece on Royal London's goal of improving and simplifying the definitions of critical illnesses. Once again I applaud their efforts to improve the experience of customers shopping for this coverage.

You can read the entire article by following this link in Money Marketing: Enhance Simplicity.

Here is an excerpt of the article.

"Fortunately, things are improving with providers recognising the need to create simpler definitions. Earlier this month, we announced enhancements to our critical illness cover. The main change is to cancer cover; over 60 early stage cancers are now covered under nine definitions. By removing a long list of specified cancers, these changes provide clarity for advisers and customers and will result in more claims being paid.

In addition, our new Parkinson's definition now includes Parkinson's-plus syndromes that incorporate multiple system atrophy and progressive supranuclear palsy. Our motor neurone disease definition has been updated to include Kennedy’s disease, making the definition ABI+.

We could have listed numerous in situ cancers and shown Kennedy’s disease and the five Parkinson's-plus syndromes as stand-alone conditions but we didn’t want to play the numbers game."

On a personal note: Thirty years ago I took out disability insurance coverage while hoping I would never need it. Seventeen years later I was forced to go on long term disability. We were so thankful we had the coverage. It made making the difficult decision much more palatable. 

The Phlegm Story

The dictionary defines phlegm as the thick viscous substance secreted by the mucous membranes of the respiratory passages, especially when produced in excessive or abnormal quantities.

Over the last year or so I have been producing excessive quantities, often causing me discomfort. It started with clearing the throat several times a day. Recently, it is often several times an hour. The situation has become much worse this fall, perhaps caused by allergies.

Normal phlegm is not an issue to me. What is a problem is the amount and thickness of phlegm generated recently. At times there is so much it causes constant coughing for an hour or more. Hot liquids (tea and water) with lemon help a little. Mucinex also helps. The key ingredient in Mucinex is Guaifenesin. It works by drawing water into the bronchi – the air passages branching into our lungs. The released water both thins the mucus and lubricates the airway, facilitating the removal of mucus from the chest by coughing, and making it easier to breathe.

But, at times, I still find myself locked in a battle to free the lungs of the thick stringy paste-like substance. During these moments, it is not uncommon to have sore ribs and a sore groin after hacking and coughing. It still amazes me how much phlegm can be discharged before feeling good again.

Initially, we assumed it was caused by ice cream. I quit eating it. Then I quit eating most dairy products. When I still had problems, we began to experiment with the elimination of other foods. My wife encouraged me to keep a food journal explaining what I ate, when and what was the result. The problem was that somethings didn’t add up. My wife then began reading the ingredients. One commonality in most everything I had problems with was soy (beans, flour, oil, etc.). It is amazing to me that most everything contains soy products of one kind or another.

So, the battle continues. Sometimes I win, but far too often I lose. As I remove more foods from my diet, the situation is becoming more manageable, but not resolved.

Giraffe with SBMA

I have a warped mind. This morning while doing my neck exercises, I wondered what it would be like for a giraffe to have weakened neck muscles like those of us living with Kennedy’s Disease. I know the thought isn’t logical, but it was a diversion.

In 2013, I wrote a post on dropping-headsyndrome. It is still a popular post today. I discussed some exercises in that post that I performed for several years to maintain neck and shoulder strength.

Today, my weakened shoulders and neck are a regular distraction. I wrote about the changein February of 2015. At first it was quite painful and the weakness pronounced. Later that spring the pain went away and I regained some of the strength back. Twenty months later I have learned to live with the issue, but it is a difficult one to accept. Exercisesdo help. My soft collar also helps. But, I feel the fatigue in the neck every day and some activities like eating at a table are an exercise in frustration and futility.

Fortunately, as with most symptoms of SBMA, some days are better than others. I continue to exercise these muscles every day with the belief the neck would be far worse if I didn’t. And, as with everything else that has declined, I compensate and find workarounds. Unfortunately, one of those workarounds was to rest my chin on my hand. I wrote about that in Pinky Pain(ulnar nerve entrapment). Now that I am aware of the problems it caused, I try to catch myself doing it.

Oh well, Kennedy’s Disease – the good, the bad, and the ugly.

Pinky Pain

A couple of months ago I noticed a tingling in my right pinky finger. It wasn’t bad, but it seemed to become more noticeable throughout the day. The last week of so I noticed, at times, my finger became numb. Well, I tried several things to see if they would help, but I didn’t notice a difference. At first, I considered it another progression of Kennedy’s Disease. Yesterday, the ring finger went to sleep for an hour. That concerned me, so I did what every red-blooded American does. I Googled “Pinky finger pain.” Here is what I learned from OrthoInfo.

Ulnar nerve entrapment occurs when the ulnar nerve in the arm becomes compressed or irritated.

The ulnar nerve is one of the three main nerves in your arm. It travels from your neck down into your hand, and can be constricted in several places along the way, such as beneath the collarbone or at the wrist. The most common place for compression of the nerve is behind the inside part of the elbow. Ulnar nerve compression at the elbow is called "cubital tunnel syndrome."

Numbness and tingling in the hand and fingers are common symptoms of cubital tunnel syndrome. In most cases, symptoms can be managed with conservative treatments like changes in activities and bracing. If conservative methods do not improve your symptoms, or if the nerve compression is causing muscle weakness or damage in your hand, your doctor may recommend surgery.

Symptoms

Cubital tunnel syndrome can cause an aching pain on the inside of the elbow. Most of the symptoms, however, occur in your hand.

•  Numbness and tingling in the ring finger and little finger are common symptoms of ulnar nerve entrapment. Often, these symptoms come and go. They happen more often when the elbow is bent, such as when driving or holding the phone. Some people wake up at night because their fingers are numb.
•  The feeling of "falling asleep" in the ring finger and little finger, especially when your elbow is bent. In some cases, it may be harder to move your fingers in and out, or to manipulate objects.
•  Weakening of the grip and difficulty with finger coordination (such as typing or playing an instrument) may occur. These symptoms are usually seen in more severe cases of nerve compression.
•  If the nerve is very compressed or has been compressed for a long time, muscle wasting in the hand can occur. Once this happens, muscle wasting cannot be reversed. For this reason, it is important to see your doctor if symptoms are severe or if they are less severe but have been present for more than 6 weeks.

Home Remedies

There are many things you can do at home to help relieve symptoms. If your symptoms interfere with normal activities or last more than a few weeks, be sure to schedule an appointment with your doctor.

•  Avoid activities that require you to keep your arm bent for long periods of time.
•  If you use a computer frequently, make sure that your chair is not too low. Do not rest your elbow on the armrest.
•  Avoid leaning on your elbow or putting pressure on the inside of your arm. For example, do not drive with your arm resting on the open window.
•  Keep your elbow straight at night when you are sleeping. This can be done by wrapping a towel around your straight elbow or wearing an elbow pad backwards.

When I reviewed the facts with recent activities, here is what I surmised.

•  With weaker neck muscles, there are times where I use my right arm as a rest for my head. This happens quite a bit when watching television.
•  I have been writing several hours a day with my elbows constantly on the arm rest.
•  My arms are hardly ever extended straight for more than a few minutes.

So, knowing this is a possibility, I am embarking on a program to see if I can correct the problem before it becomes more serious. 

A move in the right direction.

I found this Financial Reporter article (a portion of it is below) interesting. To me it shows some insurance companies are progressing in the recognition of Kennedy's Disease. The Royal London Mutual Insurance Society Limited, along with its subsidiaries, is the largest mutual insurer in the United Kingdom. Let's hope more companies will follow suite.

Royal London updates critical illness cover

Royal London has announced a number of enhancements to its critical illness cover.

The main change is to cancer cover - over 60 early stage cancers are now covered under nine definitions.

Royal London says the changes provide clarity for advisers and customers by removing a long list of specified cancers. ...

... In addition, some definitions have been updated or added. A new Parkinson definition now includes Parkinson plus syndromes that incorporates multiple system atrophy and progressive supranuclear palsy.

Motor neurone disease definition has also been updated to include Kennedy’s disease, which makes the definition ABI+.

Debbie Kennedy, Head of Protection at Royal London, said: “Medical advances mean that cancer is often being diagnosed and treated earlier. Therefore more people require support at the early stages following a cancer diagnosis. We’ve enhanced our critical illness cover to provide financial support and our Helping Hand provides emotional support whenever the customer needs extra help. Cancer was the top reason for critical illness claims last year and by covering over 60 early stage cancers Royal London is demonstrating its commitment to paying more claims and including conditions that matter and really do add value for our customers.”

Conveniently Forgetful

This morning was the first fall weather of the year. It was 48 degrees. It felt like fall and our two dogs  loved the cool morning air. Then I noticed my hands didn’t want to function normally. And, I remembered what colder weather brings for many of us living with a progressive disorder.

My mind must put up a protective barrier sometime each spring to block out thoughts of what I just went through. Constantly having cold feet and hands is one thing, but not being able to effectively grip things, like zippers, is more of a problem. It impacts getting dressed and undressed, brushing my teeth, eating, typing, and so much more. Wearing gloves all the time is not the answer. I just have to accept it, be more mindful of my limitations, and move on with life.

Fortunately, we’ll still have some warm days between now and Christmas. And, somehow I’ll manage to survive until March when the hands will thaw out again.

Then, sometime in April or May, I’ll forget about the last winter and the increased challenges it brought. It sure is convenient …

Kennedy's Disease Videos

Some of us would rather watch a video than read a book or magazine. So, below are several YouTube videos concerning Kennedy’s Disease, KD research, personal stories of people living with KD, and a few other relevant topics. If you are aware of other videos concerning KD, please let me know and I will update this list.

Please note that some videos are not the best quality.

1. Dr.Fischbeck on Kennedy’s Disease
2. Spinaland bulbar muscular atrophy
3. Learningabout Kennedy’s Disease – Heather Montie, PhD
4. ChrisGrünseich - NIH Clinical Fellow
5. SBMA(KD) Clinic
6. KDModels – Part I - Lenore K. Beitel, Ph.D.
7. KDModels – Part II - Lenore K. Beitel, Ph.D.
8. Kennedy’sDisease – Part I – Ed Meyertholen
9. KD –Part II – Ed Meyertholen
10. KD –Part III – Ed Meyertholen
11. AfterTen Years – The KDA and KD Research – Ed Meyertholen
12. Sex& All That Jazz – Part I - Dr. Mary Ellen Romero
13. Sex& All That Jazz – Part II - Dr. Mary Ellen Romero
14. Kennedy’sDisease Free Children thru IVF
15. RevisitingKD Free Children
16. IGF-1/Aktsignaling in SBMA muscle - Maria Pennuto, PhD.
17. SmallHeat Shock proteins in SBMA - Angelo Poletti, Ph.D.
18. RareDisease Day and Kennedy’s Disease – (Personal Story)
19. Rare Disease Awareness and Kennedy’s Disease – (Personal Story)
20. Kennedy’sDisease – (Note 1^st three minutes are an introduction to KD)
21. A NewHandle on Kennedy’s Disease
22. Handtremor, tongue and perioral fasciculation in a patient with Kennedy disease
23. KD andthe Waites – (Personal Story)
24. UnderstandingMuscle Atrophy (Muscle Loss): Fitness Exercises
25. TreatmentDiary of Mr. Mattheis  - (Personal Story – Note information provided cannot be verified)

Why should I exercise?

I just read a post in Goodlife Zen that needs to be shared along with a few personal comments. First, I’ll share a portion of the post and then add my thoughts. You can read the entire article by following the link below.

6Unexpected Ways Exercise Improves Your Mental health

Jack LaLanne, nicknamed the Godfather of modern fitness, exercised until the day before he died at 96. He once said, “Exercise is the catalyst. That’s what makes everything happen: your digestion, your elimination, your sex life, your skin, hair, everything about you depends on circulation.”

… exercise improves their heart rate, pumps more blood to the brain, builds muscles, and of course makes them go from fat to fit naturally.

However, scientists believe that the benefits of exercising don’t just end there. They claim that regular physical exercise can help boost your mental health by boosting your brain function. …

1. Reduces stress

… By improving blood circulation to the brain, exercise boosts the production of norepinephrine, a chemical that regulates stress and improves concentration. So, the next time you’re mentally exhausted or stressed out, just get off your seat and do any form of exercise for a few good minutes. You’ll experience the mental benefits almost instantly.

2. Boosts the production of ‘happy’ chemicals

… Exercise releases endorphins that control feelings like happiness and excitement. … The effects of exercise on your mood can be even more profound than any antidepressant pill or medication.  You don’t have to be a gym rat to reap the benefits of exercise; all you need to do is just sneak in 30 minutes of workout time in your daily routine.

3. Improves confidence and self-esteem

… Having a well-toned body makes you feel good and look good at the same time. The better you look, the more your confidence and self-esteem will be. …

4. Outdoor exercises for Vitamin D

To enhance the experience, take your workout outdoors. No matter how stressed out you’re, spending time in the nature can help relieve stress, and when that’s coupled with exercise, you get superior results. …

What’s more, by soaking up in the sun, your body gets a healthy dose of vitamin D, which is otherwise hard to get via food and packaged supplements. …

5. Boosts brainpower

Laboratory studies conducted on rats and men have proved that cardiovascular exercises help generate new brain cells and eventually result in a healthier brain. It has also been found that exercise fosters brain-specific protein called BDNF which is linked to the decision making, thinking, and learning skills of an individual.

6. Helps control addiction

The brain reacts to any form of pleasure-sensitive stuff like exercise, … … but also help in the recovery and improvement of the person’s physical and mental well-being.

When this article started out with Jack LaLanne, boy did that stimulate memories of my childhood. He was on television every day wearing that body suit.

First off, I do not plan on letting Kennedy’s Disease get the better of me without a fight. And, how I fight back is with decent nutrition, daily exercise, and listening to my body.

I still exercise every day, several times a day. I find it good for what ails me. If I eat too much wheat products and my joints are painful, exercise loosens things up and removes the pain. If my hands aren’t doing what they are supposed to, exercise makes them more flexible and stronger. If I’m having trouble lifting object over my head, exercise provides just what is needed to get the job done.

Below are just a few of the links I posted regarding exercise for those of us living with a progressive neuromuscular condition like Kennedy’s Disease. Do a search (on the right next to my photo) to see all the posts on exercising.

• NewExercise Program – Part I
• NewExercise Program – Part II
• ExercisesCan Improve Your Quality of Life – Part I
•             Part II in this series
              Part III in this series
              PartIV in this series
              PartV in this series
  PartVI in this series
• Exercisingwith light weights is good for you
• Let’sDo Some Exercises

Remember my mantra:  Exercise Good – Couch Potato Bad