When is cold not always cold?

One of the undiagnosed systems associated with Kennedy’s Disease is sensory neuropathy. For years it was never listed or even associated with diagnosing Spinal Bulbar Muscular Atrophy (SBMA) or Kennedy’s Disease. I have commented in earlier articles about my neuropathy systems. This week, another person living with Kennedy’s Disease asked what my symptoms were like, so I thought this would be a good opportunity to discuss the subject again.

The website Medical News Today had some good information on this subject.

What is Neuropathy?

Neuropathy is a collection of disorders that occurs when nerves of the peripheral nervous system (the part of the nervous system outside of the brain and spinal cord) are damaged. The condition is generally referred to as peripheral neuropathy, and it is most commonly due to damage to nerve axons. Neuropathy usually causes pain and numbness in the hands and feet. It can result from traumatic injuries, infections, metabolic disorders, and exposure to toxins. One of the most common causes of neuropathy is diabetes.


Neuropathy can affect nerves that control muscle movement (motor nerves) and those that detect sensations such as coldness or pain (sensory nerves). In some cases - autonomic neuropathy - it can affect internal organs, such as the heart, blood vessels, bladder, or intestines.


Pain from peripheral neuropathy is often described as a tingling or burning sensation. There is no specific length of time that the pain exists, but symptoms often improve with time - especially if the neuropathy has an underlying condition that can be cured. In the United States, about 20 million people suffer from neuropathy.

What are the Symptoms for Sensory Nerve Damage Neuropathy?

Sensory nerve damage can cause various symptoms, such as an impaired sense of position, tingling, numbness, pinching and pain. Pain from this neuropathy is often described as burning, freezing, or electric-like, and many report a sensation of wearing an invisible "glove" or "stocking". These sensations tend to be worse at night, and can become painful and severe. Sensory nerve damage may lead to a lessening or absence of sensation, where nothing at all is felt.

How can Neuropathy be managed?

There are several ways to manage neuropathy and prevent its symptoms. Good foot health is important, especially for diabetics. Patients should check feet for blisters, cuts, or calluses and avoid tight fitting shoes and socks. Doctors can recommend an exercise plan that will reduce neuropathy pain and control blood sugar levels. Patients should also quit smoking and eat healthful meals. Massages of hands and feet may also aid neuropathy management by stimulating nerves and temporarily relieving pain.

My Sensory Issues

My neuropathy is caused by sensory nerve damage and that is why I focused on it above. The three main areas/symptoms for me are:

1. Feet and lower legs always feel cool or cold ... even if they are warm when touched. I normally cannot go to sleep when they feel cold.
2. A burning sensation in the heels ... mainly in the left leg. Often the burning sensation is so intense I cannot got back to sleep.
3. Hands and fingers not as sensitive to hot and cold. This becomes  an issue with freezing weather or when picking up hot items.

What works for me?

1. Cold Sensation: If I wear calf length socks in bed, the feeling goes away quicker. An electric blanket also seems to help. Normally about an hour or two later I can remove the socks and be fine.
2. Heel pain: Massaging the area seems to help immediately. Placing a pillow under the shin area to hold the heel off of the bed seems to help also.
3. Hands and fingers: Massage, gloves, pot-holders, and awareness of the problem seems to help. I especially have to be careful when picking up something hot because I can blister before the pain hits.

Do you have any neuropathy issues?

Please let me know if you have any issues with neuropathy. What kind, where and what you do to help the issue?

Would you really want to know?

Over the last few years I have published several articles on genetic testing.  Three of these articles are shown below.

• What is Genetic Counseling
• Genetics Counseling Answers Many Tough Questions
• Just Let Them Be A Kid

This morning another board member sent the link below to a USA Today article written by Janice Lloyd on genetic testing.

Genetic testing and disease: Would you want to know?

The story is about Kristen Powers who has decided to have a genetics test to see if she has inherited the DNA for Huntington’s disease.  Since this disease is similar in many ways to Kennedy’s Disease (neurodegenerative, progressive, rare, similar DNA defect, no treatment or cure, etc.), I found the article interesting because it discusses the personal perspective of being tested as well as other considerations.

The article goes into why some people want to be tested and many of the pros and cons of being tested.

Making the decision

“Gone would be the days of waiting to develop a disease. People would know about diseases they are at risk for and could change their living habits or consider treatments. Opponents warn about the potential for invasion of privacy — threatening employment and insurance — and the possibility that people equipped with the knowledge of their genetic makeup might make risky and unhealthy decisions.”

Reasons to know

“Kristen doesn't want the gene to be passed on again. She says she won't have children if she tests positive: "I can be candid with potential partners and be responsible," she says.  Genetic counselors warn about the emotional impact of testing on the person and family.  "Some people like to plan everything out," says Brenda Finucane, president of the National Society of Genetic Counselors. "They think the information is empowering, while some people want to see how life plays out."

What about insurance?

“Ed Powers backs his daughter Kristen’s decision to find out whether she inherited the gene for Huntington’s disease, but he also wonders how a positive result might affect his family’s health insurance. “I hope ObamaCare takes care of us,” he says. The Supreme Court is expected to rule on the fate of the Affordable Care Act in June.  About 30 million Americans live with rare diseases, many of them chronic. People afflicted with these diseases often have difficulty obtaining coverage, or the policies are cost-prohibitive. The health care law created the pre-existing condition insurance plan (PCIP) for Americans denied coverage by private insurance companies for health reasons. PCIP is currently in effect.  If the law is upheld, all Americans, regardless of health status, will have access to insurance by 2014 through an employer or in the marketplace, says the Department of Health and Human Services. Insurers will be prohibited from charging more or denying coverage to anyone. The law also eliminates annual and lifetime insurance caps.”

I encourage you to read the USA Today article.  ‘Knowing or not-knowing’, that is the question. Since there currently is no treatment or cure, what would you do differently if you knew that you or one of your children had the defect?

More importantly, if one of your children is going to be tested (their wish or yours),  I would highly encourage both of you to discuss the issue with a genetics counselor ahead of time.  A counselor can:

• Answer your questions
• Address concerns
• Review expectations
• And, discuss possible next steps ... should the test be positive.

Robotic Walking Devices; Are they in our future?

A few times over the last three years I have published articles are robotic devices that can help those with disabilities walk again.

• Honda Roboleg 

• HAL (Hybrid Assistance Limb) 

• eLEGS Exoskeleton 

Recently in the KDA Forum there was a discussion about two new devices that have entered the market.

EKSO Exoskeleton 

• There are two good articles on this new device
• Singularity Hub
• Fast Company
• There is also the company’s website that has come good video on the device in use

Argo’s ReWalk 

• There are two interesting articles on the product
• Phili Business Journal
• New Disability
• The company website also has some interesting information and videos

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Granted, these products still have a long way to go before they become ‘user friendly’ and something available and affordable for daily use. Yet, the more products like this that enter the market, the better chance we have to have an affordable usable product sometime in the near future.

Current technology enables greater and improved technology. The more trials offered, the better the refinements. Competition helps make products more affordable. And, once they get the product right, mass production will reduce the cost.

Like current Kennedy’s Disease research, this all takes time and money. Yet, these small steps will help lead to greater discoveries and improvements. I can visualize the day that the term disabled just means limited ability … limited to the technology available.

Coping with anger and frustration (follow-up)

A couple of weeks ago I wrote about a coping exercise that a doctor gave us on the KDA chat room. The article, Get Your Mind Out of the Gutter, provided an exercise routine to refocus when you are angry or frustrated or having problems coping. This week, one of my favorite bloggers, Mary Jaksch, wrote in ‘Goodlife Zen’ about the benefits of becoming more ‘mindful’ (refocusing on the present). It fit so well with the coping exercise, I felt it needed to be shared.

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How Mindfulness Transforms Ordinary into Extraordinary

By Mary Jaksch
When the mind is neither in the past or the future and we are completely present, our experience changes in a significant way. Suddenly life seems more spacious and more peaceful.

When we are mindful, we are available for life, and aren’t trapped in our own little world. Whether it’s peacefulness, or anger, or boredom, or elation, or fear – mindfulness allows us to notice what we are experiencing right now.
 

Mindfulness means bringing full, soft attention to the task at hand

All of us tend to let our mind drift when faced with a boring task. The good news is that if we pull ourselves back into the present moment, the task is transformed and boredom soon disappears. So, whether it’s washing the dishes, or cutting carrots, or driving in the rush hour – mindfulness can transform ‘lost’ time into islands of ease.

The first step of mindfulness is to notice what our experience of this moment is like. Whether it’s peacefulness, or anger, or boredom, or elation, or fear – mindfulness allows us to notice where we are at. But we need to go beyond that, we need to become intimate with what is there.

The second step of mindfulness is to connect so deeply that we become what we experience. [The coping exercise we were taught allows this to happen]

Pause for a moment, look away from the screen and take one complete, deep breath. Did you experience your breath? I expect you’ll say ‘yes’. But what about going deeper? Did you become the breath?
 

Mindfulness transforms

Thich Nath Hanh says: “There’s a seed of anger in every one of us. There is also a seed of fear, a seed of despair. And when the seed of anger or fear, we should be able to recognize it, to embrace it tenderly, and to transform it. And the agent of transformation and healing is called mindfulness.”

Mindfulness has the power to transform clinging into generosity, anger into compassion, and isolation into intimacy.


It’s important to be compassionate towards the part of you that wants and wants and wants, and never gets what it yearns for. And with the part that is angry, or sullen, or resentful, or irritated. And with the part that is lonely, aloof, or preoccupied. Or with the part that is fearful, anxious, or rigid. Meet these parts of yourself with tender regard.

You asked for it

I planned on only having quarterly reviews of my dutasteride experience. In the last two months, however, I received several emails asking how it was going. For that reason, I felt others might be interested in an update.
 

Two Month Update

Exercise: I averaged 90-95 minutes every other day with 15-20 minutes on the alternate days.

Strength: My neck, arm and leg strength has been the best in over a year … every day.

Highs & Lows: None! I has been ‘steady as you go’ every day. That, in itself, is wonderful.

Side Effects: Nothing negative that I can determine.

Overall: I find it hard to believe how good I feel every day. The best word I can use is ‘amazing’.

 

Fourteen Months and Counting

Is has been fourteen months since I started taking dutasteride. The day I started I also began a journal to record my experiences. The journal has been helpful in evaluating how dutasteride works for me.

These last two months have been actually better than my first three months … and those days were very good.

Some Neurodegenerative Disorders Show Lower Cancer Risk

For all the negativity applied to having Kennedy’s Disease, occasionally research comes along reflecting something positive. MSN’s Health published the following report on April 11.

Huntington's Disease Linked to Reduced Cancer Risk in Study

Findings suggest shared genetic mechanism, researchers say
-- Mary Elizabeth Dallas --

WEDNESDAY, April 11 (HealthDay News) -- People who have Huntington's disease are much less likely to develop cancer than people without the inherited disorder, according to a new study that suggests the diseases share a common genetic mechanism.

The Swedish researchers found that those with Huntington's had a 53 percent lower risk of being diagnosed with cancer compared to the general population.

Besides Huntington's disease, the lower cancer risk applies to the other eight rare neurodegenerative disorders known as polyglutamine (polyQ) diseases. Those diseases, which result in the progressive degeneration of neurons involved in motor control, include spinobulbar muscular atrophy (also known as Kennedy's disease); dentatorubral-pallidoluysian atrophy; and six types of spinocerebellar ataxia.

From 1969 through 2008, the researchers identified 1,510 patients with Huntington's disease; 471 people with spinobulbar muscular atrophy; and 3,425 with hereditary ataxia, a substitute for spinocerebellar ataxia.
Cancer was diagnosed in 6 percent of the Huntington's patients, 7 percent of the spinobulbar muscular atrophy patients and 12 percent with hereditary ataxia.


The study, published online April 11 in The Lancet Oncology, determined those with spinobulbar muscular atrophy had a 35 percent lower risk of cancer, and patients with hereditary ataxia had a 23 percent lower risk. Before being diagnosed with a polyQ disease, the patient's risk of cancer was even lower, the researchers said.

"Our findings suggest a common mechanism in patients with polyQ diseases that protects against the development of cancer," Dr. Jianguang Ji and colleagues from Lund University and Skane University Hospital, in Sweden, wrote in a journal news release. "Future studies should investigate the specific biological mechanisms underlying the reduced cancer risk in patients with polyQ diseases," they concluded.

We lost a friend Sunday

We lost a good man this week and he will be missed.


Kennedy’s Disease helped claim the life of a friend Easter Sunday. Ron Wiker chose “quality of life” over a life in an extended care facility where he would be bedridden with a feeding tube.

For several years Ron was a member of the KDA board of directors. He actively participated in our chat rooms and conferences as well as raised funds for Kennedy’s Disease research.

More importantly, Ron was a caring person. He was a friend to many. He was always there to provide whatever support was needed. You could count on Ron to have a positive ‘can do’ attitude.

In telling his story, he, like so many of us, wasn’t too concerned as the Kennedy’s Disease symptoms began to show. He just thought he was getting old. You can read Ron’s story by following this link: Ron Wiker

Our thoughts and prayers go out to Ron’s family.

Get your mind out of the gutter!

As Kennedy’s Disease progresses, one of the side effects is often an emotional one. Frustrations occur because we can no longer perform certain basic tasks. Or, we are put into situations that we cannot get out of without help … a fall, for example. Frustrations can easily lead to anger. To help us cope with this issue, the KDA had a special guest for Saturday’s KDA chat room.  This is a much longer article than normal, but it would not have been effective to break up the exercise into two posts.

Dr. Julie Bindeman is a psychologist licensed in Maryland and with a degree from George Washington University. Her focus is on life transitions and dealing with the emotions that accompany them. She also has expertise in depression, anxiety, grief and loss.

We all enjoyed participating in Dr. Bindeman’s coping exercise. She has given me permission to post the process in my blog. I am using the actual transcripts of her chat (with only minor changes ) in hope you will give the coping exercise a try.

Below is the transcript of her coping exercise as well as some comments from those that participated in the exercise.

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Dr. Bindeman: I wish that I had magic words or actions that could take away both the actual symptoms as well as the emotions that go with it. What I can help with are some coping techniques that might help the day to day or moment by moment. It can be common with loss to dwell on what had been rather than to try to be in the moment. Asking for help is a great strategy, but certainly not an easy one! So, I would love to share ideas on how to be present in the moment, and prevent your minds from thinking about those things that you had been able to do. Before we start, let me say we tend to not notice a lot of information that we take in with our senses.  And, since this is a whole different experience to do within a chat room versus face-to-face, I hope you all can bear with me. COPING EXERCISE To begin the exercise, locate an object that might be around you. It can be anything -- a rock, a piece of food, a screwdriver. Pick up your object. In order to be in the present, it's important to activate our senses--all of them! I'll need a little bit of leeway on this one, as I'm sure that depending on what your objects are; many of you won't want to necessarily taste them. We tend to use our senses of sight and touch most frequently, so I want to hold off on those two until the end. We will start off with the sense of sound. For those that have food or beverages, close your eyes and think about the sounds used to make them. For those with other objects, tap them on your hands, furniture around you, etc. Listen to the sounds that it makes and how those sounds differ depending on what it was tapped on. For the coffee drinker, you can also listen to the sound of the liquid swishing in the mug.  When you are ready, describe what that was like.

Alright, let's move onto the next sense. Let's try the sense of smell. Those of you with food/drinks are in luck with this one. It might be weird to smell your pen, for example, but perhaps you (and others that might have an object not really smell-worthy) can imagine smells that might accompany that object...an example, a place you might be to use the pen. There will be some objects where using certain senses is more challenging. For these, try to let your imagination take you to a time/place/location where you can associate the sense. Smells can bring up feelings and memories, so let yourself be open to those experiences right now as well. Ready for the next one? Let’s move onto the sense of taste. Again, this one might be challenging for some--I'm not sure I'd want to taste a pen or hole punch. I think those of you with water, omelets, or coffee, will really like the next sensory experience. But again, allow yourselves to associate--food in an office? Or whatever comes to your mind. Describe either what their object tastes like or what associations are made? OK, let's move onto the sense of sight. Really LOOK at your object. What colors do you see? Can you notice textures? What shapes are present? Try to study your object, as if you've never seen it before. Is there a sheen to it? Any scratches? On the pen, any cracks or the letters rubbed off? Hopefully, you are all noticing things to these everyday objects that you hadn't before. Feel free to let your minds wander. Describe what comes to mind. When you are ready, we'll proceed to the last sense ... the sense of touch. For this exercise, if you can, close your eyes, and let your hands experience your object. Feel for temperature, texture, shape, etc. And also, feel free to let your minds wander to anything that you might associate while you are touching your objects. Feel for ridges, edges, etc. See if from your hands, you can conjure up a picture in your minds. Closing Thoughts: One of the reasons I like to teach this exercise to my clients is that you can do it whenever you need it and with whatever you have handy. You now need to consider what trigger points (for example, what mood or situation) will remind you to use this exercise to get you back to living in the present. Using moods as a cue is a great way to remember this. It is so easy to stop being mindful and resent. The absence of these two things tends to be our default. We have little control over our past or our future, but we are able to do something with the present, whether we choose to embrace it or let it pass us by. I know that with the clients that I work with, it is so easy to get stuck inside yourself and to feel sorry for your own suffering. It's hard to remember that every human has their own kind of suffering. Someone earlier mentioned about laughter being the best medicine. This is also such a truism. What makes you laugh? When you are in a funk, seek out something that will make you laugh. Participant Feedback: Dr. Bindeman asked for feedback as to what using all five senses was like. Not necessarily specific things from each sense, but the overall exercise. “What did you experience, notice and learn?” These are some of the comments from the group participating: Slow down...enjoy life's little moments. I am realizing the opportunities available for experiencing everyday life. We all have limitations, and it's easy to get down. When we do so, then we fail to see our opportunities. Appreciate what we have ... not what is lost. This has been a great reminder to truly live in the moment and enjoy the pleasures of life. Don't think about should, could, would, etc. and be thankful for what we still have and can still do. Focus on the here and the now versus getting frustrated because I can’t do something. (Dr. Bindeman: Exactly--rather than look at what you "used to do" observe and note what you "are able to do."). I read a quote from Michael J. Fox, "If you worry about something bad happening and then it really does happen, you've suffered through it twice." I like to use this prayer, “God, grant me the serenity to accept the things I cannot change, Courage to change the things I can, and the wisdom to know the difference.” If you spend your day worrying about tomorrow, you will not live for today.

The difficulty with finding a cure

Ed, our resident biology professor and research guru, posted the following response to a KDA Forum question on why finding a treatment or cure for Kennedy’s Disease and other neuromuscular diseases is so difficult. Ed did such a fine job of clarifying the problem I thought that others should have the opportunity to read his response.

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Reference medical research on neuromuscular diseases, no one has yet determined exactly why the cells die in such diseases, much less how to stop the cell death. This is not due to lack of money, effort, organization or urgency, but because it is a very, very difficult problem. Each cell has thousands of machine-like molecules called proteins and each protein has a specific function in the cell. Of these thousands of proteins, it is not obvious which are important for keeping the cell working properly – or even how they keep the cell working properly.

Within the brain alone, there are thousands if not millions of different types of cells, each with their own function and specific set of proteins. Kennedy's Disease (or Parkinson Disease or Huntington Disease or ALS etc.) all cause a small subset (and this subset is different in each disease) of these cells to die. It is not understood what specifically makes each cell type different or why only some neurons die in each of these diseases or, in fact, why any nerve cells die in these disease. It is very difficult to find a cure for Kennedy's Disease when it is not even understood why the cells die. 

One of the first steps to understanding why a cell dies in Kennedy's Disease is to understand how the cell works – thus understanding the role of each of the proteins in the cell. We do know that in Kennedy's Disease, the defect is originally in the protein called the Androgen Receptor (AR) and somehow (no one knows how despite extensive research) this leads to some specific nerves cells to die. To figure out the molecular cause, it is necessary to figure out all the possible interactions that AR can have and try to identify the one that causes the cells to die. The AR interacts with hundreds of other proteins.  Which of these interactions is relevant for Kennedy's Disease? No one yet knows. This is akin to finding a specific hay strand in a haystack – it is a very difficult problem and despite our wishes, it takes time to work this out.

There is another issue that needs to be understood. Suppose that someone develops a treatment for Kennedy's Disease tomorrow. What would this treatment do? Most likely, it would prevent the nerve cells from dying. It is extremely unlikely, however, that it would regenerate new nerve cells (this is technology that is quite futuristic). Thus, those of us with Kennedy's Disease that has progressed will not have our symptoms reversed – we would just stop the current downward progression. While this would be a tremendous development, we would still have Kennedy's Disease symptoms. 

Smile – it makes life a lot easier

One attribute I have noticed in many people who live with a disability or health issue is their ability to laugh at circumstances and events that have challenged their life. Most have several stories that will almost bring you to tears ‘of laughter’.

I often wonder how we get into these situations ... never on purpose that is for sure. Often when they occur they are not so funny, but afterward when you replay the moment it is often pretty hilarious. If you have been following my blog for long, you probably read some of my stories where I recounted a particular event that in hindsight is pretty funny. Many happened when I was still too stubborn to admit that I had this condition.

My advice for today:

Share your stories with your loved ones and friends.

Laughter goes a long way in making life a whole lot easier.

For those of you who need a laugh today, I received this from a friend and thought it needed to be shared. If you have ever had a dog or cat, and especially if you have had both, you will know how true this is. Enjoy!