The Power of Vulnerability

As my longtime readers know, I write often about the psychological aspects of living with Kennedy’s Disease. As the condition progresses it continually challenges a person’s self-esteem. I wrote in a couple of articles that our machismo is tested over and over and we find ourselves having to rely more on others for help. This experience is difficult to adjust to because in many ways it leaves us feeling vulnerable.

A TED (Ideas worth spreading) presentation on vulnerability has four millions views. Brene Brown, Ph.D., gives a thought provoking presentation on the insight she developed from her research to understand humanity. In her studies she ended up also going on a personal quest to understand herself. Ms. Brown is a great story teller and she makes something that could be mundane interesting. I can tell you that her talk had me laughing, chuckling, testing myself, considering and realizing something important about me and others.


Feeling Connected 

She starts out with talking about 'connection'. We need to feel connected with others. But, shame and fear unravel our ability to feel connected. The "I'm not good enough, or beautiful enough, or smart enough, or worthy enough" mantra that so many of us live with at times creates that shame and fear, and makes us vulnerable. To make a connection we have to be open … able to be seen (both the good and the bad), and that is not easy. And, it becomes very apparent over time how wide that disconnection is for many of us living with Kennedy's Disease.


Self-Worth

People that are connected have a sense of worthiness and a sense of belonging. They also have a strong sense of love and believe they are worthy of it. Ms. Brown described these people as "Whole Hearted". She said these people have four interesting attributes:

• Courage … the courage to accept that they are imperfect
• Compassion … being kind to themselves as well as others
• Connection … the ability to let go of who they thought they should be and accept who they are allows them to connect with others
• Vulnerability … the belief that what made them vulnerable also made them beautiful and unique.

She found that vulnerability is the birthplace of joy, worthiness, belonging, acceptance, etc.


Blocking the feelings

People often numb themselves to their self-perceived inadequacies so they don’t feel so vulnerable. And as we numb these pains in our lives, we also numb ourselves to more important emotions including spontaneous joy, unbounded love and true empathy. When that happens, we lose our connection with others.


Worthy of Love

As a result of her several years of study, Ms. Brown has the following recommendations:

• Let yourself be seen for who you are (the good and the bad)
• To love with your whole heart
• To practice gratitude and joy every day
• And, to believe that you are worthy of love

She challenges us to show people, especially children, that they are worthy of love and belonging.

Watch the twenty minute video … smile, laugh and learn … then embrace your vulnerable self. It is truly worthwhile. ENJOY!

Let's Talk About Dying

Dr. Peter Saul presented this topic at a TED Conference (an insightful thirteen minute video).  Link:  https://www.ted.com/talks/peter_saul_let_s_talk_about_dying.html

This is not a pleasant subject, but a necessary one … especially for those of us ‘baby-boomers’.  I find it is a topic that my brothers and sisters (all older than me but one) talk about in a roundabout way, but never really get serious about it.

Dr. Saul said that about 1 in 8 people believe they are immortal. Of course, no one is and everyone that is an adult today will die within this century.

He comments that there is “no such thing as saving lives … doctors can only prolong life.”  People always think there is time to talk about planning for a person's death. Only about 1 in a 100 has a plan. Only about 1 in 500 has a plan about their actual care and treatment should they become terminally ill.

Dr. Saul believes it us important ‘how we die’ because how we die lives on in the minds of those that survive us. The stress that is caused when a person dies in intensive care is about seven times greater for the family than when a person dies anywhere else. Unfortunately, about 1 in 5 of us in the U.S. will die in an intensive care unit.

The four ways we will die

• Sudden death (becoming very rare)
• Terminal illness (becoming more rare and mostly only to younger people)
• Organ failure (growing rapidly) - hearts, lungs, kidneys, etc.
• Dwindling capacity with increasing frailty (about 6 out of 10 will die because of this) An inevitable part of the aging process.

Respecting Patient Choices

Educating the patients and their family about developing their death wishes.
Why can't we have these kinds of conversations with our loved ones?

Dr. Saul’s proposition

Here is what we can do now to insure we are more prepared. Ask two questions:

• In the event you can no longer speak for yourself, who would you like to speak for you?
• Have you spoken to that person about what is important to you?

Consider adopting the slogan, "My death - my way". This was not a pitch for euthanasia; this is a way to regain some control of how you will die.  Dr. Saunders who founded the hospice movement had the following quote:  "You matter because you are you, and you matter to the last moment of your life."

Speech Recognition; My first attempt at

For a couple of years I have considered buying a speech recognition program called Dragon NaturallySpeaking. Recently I have read a couple of reviews of the speech recognition program built into Windows 7. Since I recently upgraded to Windows 7 from Windows XP, I decided to try it out by writing this morning’s article using the speech recognition program provided. This is the first time I have tried using it.

Setting it up was not difficult.  The program took about 30 minutes to go through the tutorial and two training sessions (learning how I speak).

I do not plan on using the keyboard if at all possible. My interest in speech recognition programs came about while participating in the KDA chat rooms. In several chats many men living with Kennedy’s Disease commented on how difficult it has become to type. Personally, I find it difficult to type on cold days because my hands just don’t seem to want to function correctly.


First impressions:

• Even though I do not want to use the keyboard this morning, at times I find it quicker than to go through the list of commands needed to correct a word or change a sentence.
• I am certain that my dictation skills need to be honed and I can also do a little more voice recognition training.
• There are several commands that make navigating around a document and correcting it easier. I am still learning these commands so I have a cheat sheet but it slows me down.
• I can already see this process will become easier over time. Initially I obviously need a little patience (not something I was born with). Over the next few weeks I’ll try writing some emails and other documents using this program and see how that goes.

Conclusions:

• I can see the benefit to using a speech recognition program now than I have tried this one.
• Like anything new it will take practice for me to become more proficient.
• I also need to gain some confidence because currently as I’m speaking I find that I am often reading what has been written on the screen. This practice slows the dictation process. I actually do better when I don’t look at the screen and just wait until the end of a paragraph to read what the program wrote.

Question:
Have any of you had any experience using speech recognition programs? If so, I would be interested in your thoughts on the subject.

Happiness is a state of mind

If you are a regular reader of my blog, you know the “Goodlife Zen” is one of my favorite blogs. Yesterday’s Goodlife Zen article was titled, “How to feel happier in 7 days or less.” It is a quick read and yet the concept Mary Jaksch discusses might just work.

Happiness is defined as:

• A state of well-being characterized by emotions ranging from contentment to intense joy
• A state of mind typically described as akin to pleasure, joy or enjoyment.
• An active state of being, a choice, a state of mind, a goal, the end product of a fulfilling day.
• On one level happiness is freedom from want and having the basic necessities of life. On another level, happiness consists of feelings of contentment, self-worth and well-being.

I especially like the last two definitions because I believe happiness is a choice. It also stems from a feeling of contentment and self-worth.

As those of us living with Kennedy’s Disease know, at times our self-esteem and self-worth can be challenged. When that happens, it is difficult to be ‘happy’ or ‘content’. So, I am always looking for ways to move beyond those feelings. In the blog article mentioned above, Mary asks you to do the following exercise for seven days.

• Try completing this sentence each morning for seven days.

“To bring 5% more happiness to my life …”

• What you write down is up to you.
• Write what comes into your mind; don’t edit your thoughts. Don’t worry if you contradict yourself.
• Write down at least six completions (answers) each time you use the technique.

I tried the exercise this morning and the results were interesting. I can see some benefits of using this exercise whenever you are feeling a little down or uncertain about what’s ahead. I like the ‘5%’ because you are not trying to change your world only trying to make it a little better. It causes you to focus on what would help change your current state of mind (attitude).

What is Pseudoscience?

Ed, our resident biology professor and research reporter, is trying to educate everyone about bogus claims of treatments and cures for Kennedy’s Disease. Recently, many of these type claims have shown up across the internet as pseudoscience.

Pseudoscience …

… as defined by the WiseGeek website, is:

“ … a body of knowledge which presents itself with a veneer of scientific respectability which does not hold up under scrutiny. The term “pseudoscience” is meant to be derogatory; you may also hear terms like “alternative science” or “junk science” used to refer to such fields. Learning to distinguish true science from pseudoscience is very important.


The key characteristic of pseudoscience is that it does not conform with the scientific method. This means that pseudoscientific claims cannot be tested, and do not follow a logical order. Plenty of scientific concepts cannot be tested with existing equipment, but the originators of such theories can provide solid information which supports their hypotheses, and these creators also welcome critiques and honest analysis. Pseudoscience has no scientific backing, and it cannot be tested.


Several key things can be used to identify a field of knowledge or a claim as pesudoscience. The first is the lack of testability and independent confirmation. True scientists are always happy to share the data they used to arrive at their conclusions, and they welcome independent testing and critiques of their work, using refutation as the primary tool to prove a theory, rather than seeking out proofs. The pseudoscience community rejects refutation, preferring to seek out evidence which bolsters specific claims, and it is not open to scrutiny or discussion.


It is also common to see pseudoscience accompanied with grandiose languages and claims which are heavily exaggerated. Misleading language is often used in a pseudoscientific argument, and the author may make an argument which is based in ignorance, or in an assumption that the reader will be ignorant.”

The article concludes with the following warning:


“Many professional scientists regard pseudoscience as very harmful, in addition to irritating. Consumers spend large amounts of money on pseudoscience every year, believing the grandiose claims made by companies attempting to turn a profit, and pseudoscience can infiltrate society to an alarming level. At one time, for example, people genuinely believed in the practice of phrenology, which involves examining the bumps on someone's head to determine his or her inner nature.”

Do your research and ask your doctor

Regularly the KDA is sent emails exclaiming some treatment or cure for Kennedy’s Disease. Many of these emails today are for stem cell treatments or some drug like Naltrexone.

The message is simple. Always check with your doctor before embarking upon some treatment passed by word-of-mouth, emails or the internet. Always error on the side of caution.

Making Wheelchairs Obsolete for Paraplegics

Terry Waite sent me this link to an article and I found it interesting. The nine minute video was quite good in showing Tek Robotic Mobilization Device ‘s capabilities. The website had this explanation on their home page:

“Tek RMD, provides the opportunity of movement for people with paraplegia by enabling them to independently stand up in a completely upright position with correct posture, facilitating their movement and comfortable completion of their daily tasks indoors, such as in the home, office and shopping mall. Tek RMD is not an alternative to wheelchairs; it is a totally new concept, a new platform.”


Yes, it was not specifically designed for someone with our needs in mind. However, what I liked was the way it allowed a person to easily stand and maneuver around in tight spaces. I also thought it is a great way to exercise your quads as well as your arm muscles. Probably the neatest feature is the ability to use almost any bathroom stall and commode height. Boy would that be convenient. Also, the remote control is kind of neat.



I am not certain how comfortable the device would be, however, and how convenient it would be to transfer to other chairs, bed and a car seat. Also, how mobile would the device be outside even on something fairly flat and smooth surfaced like pavement or a sidewalk?

The beauty of this device’s technology is that it will lead to even greater capabilities for hybrid wheelchairs and other mobility devices.  I can hardly wait.

The key to greater confidence and safety

  A little over two years ago I wrote an article about “Muscle Memory.” In the article I used Wikipedia to define what muscle memory is and how it is used for training. I also described some experiences that I had when my muscles lost the inability to perform a daily routine such as stepping up onto a curb. If you haven’t read the article in some time, I would encourage you to read it before proceeding.

When a physical therapist evaluated me a couple of years ago and recommended a particular exercise program, I had no way of knowing how muscle memory and visualization would play such an important role in the exercise routine. The two articles on the P.T. recommendations and the results are Exercise Program – Part I and Exercise Program – Part II.

Three years later I am still amazed how visualization and muscle memory are still a part of my daily routines. For example, I couple of years ago I was concerned that we would have to remodel our master bath to accommodate my inability to safely step in and out of the shower. We started getting quotes and began wondering how I would survive during the construction process.

Today, we still have not remodeled and I believe this is because of three things:

1. Visualization
2. Muscle Memory
3. Dutasteride

Four of the leg exercises I do every day are focused on the quads. Part of the process is to visualize myself performing the exercises correctly. I use this same technique before stepping into and out of the shower. Also, these exercises have given me the confidence to trust my leg strength enough to step in and out. Also, dutasteride has helped maintain my strength and improved my endurance to comfortably increase the exercises without doing any harm.

Yet, the main ingredient for success is visualization. Not trying to do something without first thinking it through and visualizing the exact process ahead of time.  And, only then proceeding.

Is there a possible treatment using alternative medicine?

A man with Kennedy’s Disease wrote recently asking if anyone had any experience with acupuncture. And, if so, was there any benefit? He explained that a friend had found acupuncture helpful in his recovery after hip replacement surgery.

This question has been asked before, but I cannot locate the responses in our KDA Forum. I personally have not tried it, but it is something I have considered a couple of times because of my positive experiences with Qigong. It still amazes me how a one-hour session with an instructor/practitioner remarkably changed my physical capabilities for more than a week. The change was noticed by my wife, friends and co-workers. Unfortunately, I was living in Philadelphia at the time and the practitioner was in Los Angeles making regular sessions impractical.
 

Acupuncture, as defined by Wikipedia

“An alternative medicine methodology originating in ancient China that treats patients by manipulating thin, solid needles which have been inserted into acupuncture points in the skin. According to Traditional Chinese medicine, stimulating these points can correct imbalances in the flow of qi through channels known as meridians. However, scientific research has not found any histological or physiological correlates for qi, meridians and acupuncture points.


Current scientific research supports acupuncture's efficacy in the relief of certain types of pain and post-operative nausea. Other reviews have concluded that positive results reported for acupuncture are too small to be of clinical relevance. Other researchers have pointed out the difficulty in designing an adequate scientific control for any placebo effect acupuncture might have due to its invasiveness.


There is general agreement that acupuncture is safe when administered by well-trained practitioners using sterile needles but does carry small but serious risks and adverse effects. Major adverse events are exceedingly rare and are usually associated with poorly trained unlicensed acupuncturists.


The use of acupuncture for certain conditions has been tentatively endorsed by the United States National Institutes of Health, the National Health Service of the United Kingdom, the World Health Organization, and the National Center for Complementary and Alternative Medicine, though most of these endorsements have been criticized.”


Acupuncture, in my layman’s terms, is the manipulation of energy channels (meridians) within the body. Tiny sterile needles are inserted into the body where these energy channels might be clogged or blocked and need opening. They are also used to minimize or eliminate pain.

Acupuncture has become a more accepted alternative procedure in recent years. Many health insurance providers now include acupuncture as a partially reimbursed service for certain health issues.
 

Acupressure

Acupressure is a less invasive treatment that tries to accomplish the same thing as acupuncture, but it uses focused massage and pressure points along these same meridian channels instead of needles. I have not heard as much about it in recent years.
 

The Issue

In my opinion, the problem is that Kennedy’s Disease (SBMA) is a health issue that is genetic. Our DNA has been changed (mutated). That means that finding a cure is extremely difficult. It doesn’t mean that a treatment(s) cannot be found in modern or alternative medicines.
 

The Question

I am interested if any of you have any experience, both positive and negative, with acupuncture or acupressure. Also, was your experience related to Kennedy’s Disease or some of health issue? I look forward to hearing from you.

It has been an interesting month

In February I summarized my twelve month experience with taking dutasteride. My fourth quarter review was not as positive as the other three quarters.

I also commented that I would continue to provide quarterly reviews unless something significant happened. Well, it has been an interesting four weeks and all good news ... news worth sharing.

• My neck problems are nonexistent. I was one worried guy for some time, but this last once has been wonderful … free of weakness and pain.
• My leg strength has been great these last three weeks. I haven’t had one bad day.
• My arm strength the last week and a half has been better than it has been in at least nine months. This was totally unexpected and very welcome. You cannot believe how elated I was during my first workout. I was wondering if it was just an anomaly because those of us living with Kennedy’s Disease get them far too frequently. And, yes, it might pass, but it also gives me hope.

Living with Kennedy’s Disease is a journey of ups and downs. We need a lot of ‘ups’ to help with all the ‘downs’. I like to use the comment, “This too will pass.” I use it during the good times and the not so good ones.

Right now I am enjoying the ride and I just wanted to share the moment with you.

Never giving up hope

Each year several flocks of migrating Canadian Geese use our lake. One or two flocks will winter on the lake. Last year a large male broke his right wing. The outer feathers have dried up, but remain secured to the bone so that the right wing is about half the size of the other wing

When the rest of the flock left in the spring the goose with the bad wing had to stay behind. I found it interesting that three other geese stayed behind with it and summered on our lake. At first I would watch the goose flap its wings and when it couldn’t get off the ground it would honk continuously letting the other geese know it couldn’t go with them for their morning flight.

Since I walk my dog around the lake three-to-four times a day I see the goose quite often. I find it interesting that every morning the goose tries to fly. For much of the year the three other geese might take with the rest of the flock off each morning, but when they saw the goose still on the lake, they would turn around and land not wanting to leave it behind.

In recent weeks, however, the three other geese that stayed behind before are now flying off with the flock each morning to eat in some farmer’s field. This leaves the goose alone. As it paddles around the lake each morning it honks consistently trying to attract other geese. When the geese do return late each morning, the goose with the bad wing gets so excited because it is one of the flock again. And, for the rest of the day its three friends never leave its side.

This week, I noticed something different happening. When the flock takes off each morning, the goose with the broken wing starts running on the water while flapping its wings hoping to gain some momentum that will help lift it into the sky. It might fly for five to ten feet before falling back to the lake or grass. And as the other geese fly off through the morning mist, the goose is left behind once again.

I am amazed that it never gives up trying to fly. Some instinct or desire is greater than the reality. The goose knows it must fly to survive for it is a creature of both the wind and the water.

In our world we are much like the goose with the broken wing.  Yes, we have wheelchairs, handicap-equipped vehicles, up-lift assist chairs and braces. And, we become accustomed to not being able to compete physically in our world, but we never really accept it. Like the goose, we hope for some miracle that will free us from our bindings and allow us to walk this earth once again.

I + V = A

A subject that comes up occasionally with those of us with Kennedy’s Disease is ANGER. I don’t know how many times someone asks if anyone else with Kennedy’s Disease is having problems with anger and/or depression. The term ‘easily angered’ is often used.


The equation: I + V + A

• I = Irritable: cranky, easily irritated or annoyed; abnormally sensitive to a stimulus
• V = Volatile: Liable to change rapidly and unpredictably, esp. for the worse
• A = Anger: A strong feeling of annoyance, displeasure, or hostility

If a person is already irritated (or frustrated) and something unpredictable happens; explosive anger could be the result.


Personally, I know that I am more easily irritated these days. I am not certain it is a side effect of having Kennedy’s Disease, but I do know that often it is the result of my inability to perform normal daily tasks or the accumulation of several frustrations during a day. Then, when I realize I overreacted, I become frustrated again because I shouldn’t have let it get to me the way it did.


Perhaps we are dealing with another part of the acceptance process or as I call it; learning to live with Kennedy’s Disease. Whatever it is, it is not acceptable behavior.


Chemical Help
I know that some people are using prescriptions drugs to help control the volatility. Personally, I do not like taking any drugs, other than over-the-counter, to help control something because of the potential side effects and the possibility of addiction. That might change some day if my blood pressure increases, for example. If these prescribed drugs help someone, however, without doing any harm; then more power to them.


Questions for today
How about you? Have you noticed a change in your tolerance? Are you more easily angered today? What do you believe is behind this change?  What have you found that helps with this issue?


I look forward to hearing from you.

Not communicating your medical condition could be life threatening

I read the following abstract the other day and it immediately raised a flag. Several times in my association with the Kennedy’s Disease Association (KDA) I heard stories about complications resulting from a doctor or surgeon not knowing the patient has Kennedy’s Disease or an anesthesiologist not being aware of the problems that might be caused by using the wrong anesthesia with a person with a neurodegenerative disorder.

Complications After Cardiovascular Surgery in a Case of Undiagnosed Spinal-Bulbar Muscular Atrophy (Kennedy Disease)

• Stacey A. Skoretz, MSc,
• May-Sann Yee, MD, FRCPC and
• Rosemary Martino, MA, MSc, PhD

Abstract
Neurodegenerative diseases are often associated with life-threatening declines in respiratory and swallowing mechanisms. We report the case of a 70-year-old man who had postoperative dysphagia and respiratory failure that required reintubation after coronary artery bypass surgery. Impairment of the patient’s speech, swallowing, and respiratory mechanisms identified during postoperative clinical and instrumental examinations was suggestive of a neurodegenerative disease. Genetic testing confirmed a diagnosis of spinal-bulbar muscular atrophy (Kennedy disease). This case report aims to highlight increased morbidity in patients with undiagnosed neuromuscular disorders in the critical care setting and the benefits of vigilant postoperative monitoring and multidisciplinary involvement throughout the care of complex patients.

Over the last three years I have written several articles explaining the need to carry with you a medical information card and to be your own medical advocate (spokesperson). You also need someone that can be an advocate for you in case you are unable to express your feelings. Two of these articles are shown below and I encourage you to read them.

In the article I called, “When in Doubt Ask for a Second Opinion,” I mentioned: “I believe it is important that we become caretakers of our own health. We need to keep detailed records of doctor's visits, test results, medical history, etc. We also need to understand that we have an opinion and a voice in any diagnosis and treatment recommended. Yes, the doctor is the professional, but it is our body and health. When there is any doubt, just say "time out."

In another article titled, “Be Prepared – Preparation is the Key,” I mentioned carrying a medical identification card in your wallet and a medical information form in your car. I also encourage having the same form kept in your medical file at your doctor’s office.

Another article discusses Emergency Room Procedures. Medical I.D. bracelets are also helpful. Having an I.C.E. (In Case of Emergency) telephone number in your cell phone’s address book is also a good idea.

They key message to take away from this article is that there might come a time when you are unable to advise your surgeon of your medical condition, allergies, etc. Being prepared ahead of time with several backup options could save your life.

What is Genetic Counseling and should my family be tested?

The MDA recently sponsored an online presentation on genetic counseling. Afterward a YouTube video was made available of the presentation as well as a Quest online magazine article. Both are well presented in layman’s terms. I highly recommend viewing the presentation or reading the article since it is so applicable to Kennedy’s Disease (and Kennedy’s Disease is even mentioned).

“Article Highlights:

• MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, covered the basics of genetics and genetic testing, and answered questions from participants.
• Knowing your exact genetic diagnosis has advantages in terms of family planning and testing of other family members who may be presymptomatic, or may be carriers of the genetic mutation.
• An exact diagnosis also improves disease management by alerting doctors to associated health problems, such as cardiac issues.”

“Knowing your exact genetic diagnosis does more than just satisfy your curiosity — it can impact family planning, disease management and participation in clinical trials.”

There is even a Frequently Asked Questions section that addresses:

• What happens at a genetic counseling session?
• What are the limitations to genetic testing?
• What does it cost?
• When should unaffected family members be tested?
• How can I find a genetic counselor who is familiar with my disease?

Link to Quest Article: http://quest.mda.org/news/mda-genetic-counseling-webinar
Link to YouTube presentation: https://www.youtube.com/watch?v=JvkvkzBjk3A

Back in the early 80s my entire family was tested. At that time there was no test for Kennedy’s Disease and when the results came back three of us were shown to have Familial ALS. There was no genetic counseling offered at the time so we were left with a large void as to what does all this mean. About fourteen years later I was given another DNA test and officially diagnosed with Kennedy’s Disease.

A question concerning CAG repeats

I recently received the following question this week:

“Do you know of any understandable explanation of CAG Count and its importance and implications to SBMA sufferers? Everything I have found is pretty unintelligible to me (and I thought I was a pretty intelligent kind of a person!!). From what I can gather the count length - whatever that is (& I have no idea of mine) is important to diagnosing the condition but is of no particular relevance in assessing the outcome. Is that correct?”


So I consulted our biology professor and asked for help. Ed provided the following explanation of the DNA mutation and Kennedy’s Disease. I definitely learned something from his explanation. Thanks, Ed.

______________________________________

Kennedy’s Disease (aka SBMA) is a genetic disease.  Aside from the fact that this means one inherits the disease from one's parents, this fact has other implications.   The fact that it is genetic also means that there is a change in a gene - a gene being an inheritable factor that influences some trait.  Genes are made of a type of biomolecule called DNA.  DNA, in turn, is composed of long chains of small subunit molecules called nucleotides.  Different genes are linked together to form larger DNA structures called chromosomes.  Humans have 23 pairs of chromosomes (for a total number of 46) and each chromosome can have over a thousand different genes.  Nonetheless, each chromosome in every person should contain the same genes in the same order.  Now since genes are made up of DNA, and genes make up chromosomes, chromosomes contain DNA.  So essentially, the genetic material has a hierarchical structure:  Chromosomes:Genes:Nucleotides.  A simple, similar analogy might be Building:Walls:Bricks.

Now one might wonder what makes each gene different.  As was stated, each gene is made of DNA which is in turn made of nucleotides.  DNA employs 4 different nucleotides: adenine, guanine, cytosine and thymine.  Scientists, being efficient (or maybe lazy) abbreviate these with single letters - A, G, C and T.   Each gene has a specific, unique sequence of nucleotides much like words have a specific, unique sequence of letters.  The primary difference is that each gene's sequence is very long, often in excess of a thousand nucleotides.   The sequence of nucleotides in a gene tells the cell how to make a specific protein, thus each gene codes for the production of a specific protein.  If the nucleotide sequence of a gene is altered (this alteration is known as a mutation), the resulting protein is altered and it may not work normally (and often does not work at all).  The result of such a change may results in changes in the way the cells work and if this occurs, we would say that this would be a genetic disease.  Thus Kennedy’s Disease is due to a mutation in a specific gene that alters the function and structure of a specific protein.

The gene mutated in Kennedy’s Disease is the gene that codes for the protein known as the androgen receptor (AR).  The type of change in the nucleotide sequence in the gene for AR that causes KD is quite unusual.  Usually, mutations are due to nucleotide substitutions or deletions or insertions - but this is not true for Kennedy’s Disease.

Kennedy’s Disease is due to the repeat of a three nucleotide sequence - a repeat of the sequence that is cytosine-adenine-guanine or CAG in the scientific shorthand.   This CAG (pronounces see-a-gee, NOT pronounced so it rhymes with hag) repeat actually occurs in the AR gene in all humans where its repeat number is quite variable.  The repeat only causes Kennedy’s Disease when the repeat number exceeds 40 (CAG repeated 40 times).  Individuals with repeat numbers less than 40 do not have Kennedy’s Disease.  At this time, it is not clear why this causes Kennedy’s Disease (scientists are trying to find out) but it does!