Have you hugged your caregiver today?

Rosalyn Carter said, "There are only four kinds of people in the world – those who have been caregivers, those who are currently caregivers, those who will be caregivers, and those who will need caregivers."

Caregivers usually do not receive a lot of appreciation. Often caregivers, after giving and giving, day after day, end up needing to be cared for themselves. They not only feel the weight of the world on their shoulders for the person they are caring for, but they also have to care for their own needs and the needs of the other family members. Stress can build up in the caregiver. Depression is common among caregivers. When this happens, it is usually the result of feeling everything is their responsibility and they have nowhere to turn for help or support.

Living with Kennedy's Disease isn't just about me. It is about everyone who provides support. I have mentioned more than once, I am not always the easiest person to live with. To put it bluntly, my wife is a saint for putting up with me. Fortunately, she understands and accepts most of my shortcomings. In those rare occasions where I push back a little too much, a right uppercut straightens me out. 😎

For those of us that are fortunate enough to have a caregiver, we need to understand that the caregiver needs caring for, too. Unless contracted, caregivers almost never get a vacation or have time to just relax and pamper themselves. It is usually a 24-7 job. 

Caregivers need your emotional support, your understanding, and most importantly, your love when things do not quite go as planned.


The National Family of Caregivers provides the following "Tips for Caregivers."

1. Caregiving is a job. Reward yourself with personal time often.

2. Watch for signs of depression, and do not delay in getting professional help when you need it.

3. When people offer to help, accept the offer and suggest specific things that they can do.

4. Educate yourself about your loved one's condition. Understanding it will help you communicate effectively with the person and the doctors.

5. There is a difference between caring and doing. Be open to technologies and ideas that promote your loved one's independence.

6. Trust your instincts; most of the time they will lead you in the right direction.

7. Caregivers often do a lot of lifting, pushing, and pulling. Be good to your back.

8. Seek support from other caregivers. There is great strength in knowing you are not alone.

A good resource for caregivers can be found here:  Good Caregiver Tips Cheat Sheet

Graphics:  cheatography.com/davidpol/cheat-sheets/good-caregiver-tips/

Necessity … The Mother of Inventions

This is an update to a 2009 post

As Kennedy’s Disease progresses, I have found I need to adjust how I live and make my life easier. Several others with Kennedy's Disease have also shared their thoughts. Below is a list of some of these ideas. The list is not meant to be all-inclusive, but rather just a starting point.


Chairs: Chairs with arms are far better because you can push off easier. When chair height becomes a problem, it becomes more difficult and eventually impossible to stand up from a normal chair without assistance. Initially, you can build up the chair height by adding a platform under the chair. A couple of 2x4s and ¾-inch plywood make it much easier to stand up. Another way is to buy dense foam seat cushions (one or two). These will add 2-4 inches of height to any chair. These are two inexpensive ways to make rising from a favorite chair easier. Later on, you might have to move to an 'uplift seat'. This device lifts you up and pushes you forward to help you stand up. Eventually, you might need to purchase a power recliner chair. This chair uses an electric motor to raise you up and move you forward to an almost standing position.

Sofas: You can experiment with using bed risers (leg extensions) under the legs of the sofa to increase the height. You need to check this out to make certain it is safe (supportive), however. You can also build a platform similar to the chair platform mentioned above. Some people have added a front toe-kick to make it look nicer.

Beds: Bed risers are perfect for increasing the height of a bed. Ever since I added risers to our bed, I have never strained to get up. Some people have used bed elevators to increase the head of the bed for easier sleeping. I found that using a foam wedge (6" high) is quite comfortable and helps me breathe easier. A couple of years ago, we purchased a bed that raises the head and/or feet, massages, and makes coffee in the morning (not really). The only problem with it was its height. So, we added risers and now I have the best of both worlds. 

Toothbrush:  I highly recommend an electric toothbrush. As my grip weakened and during cold weather, I had difficulty comfortably using a normal toothbrush. My dentist recommended the Phillips Sonicare brush. I have used it for eight years and find it an excellent way to maintain oral health and comfort.

Toilets: I recommend buying a taller toilet designed for handicap use. It will raise the seat height about two inches. There are also several devices to increase the height of the seat. Some of these are inexpensive while others are expensive. One device that I used that is inexpensive and yet very helpful is called a 'Tallete'. It is a molded plastic seat that sits on top of the toilet. They make them in various shapes to fit different toilet shapes. A 'Tallete' adds about 4" of height. I actually have two of them. I keep one in the van in case a handicap stall is not available. An uplift-seat designed for the commode will help get you to your feet. There are also devices on the market that have mechanical or motorized seats that lift you up. These type devices are more expensive, however. When I started using a wheelchair most of the time, transferring became a problem. Today, I use a seat assist called the Standard Power Toilet Aid. It changed my life in regards to visiting the bathroom. Unfortunately, it does not make coffee.

Portable Ramps: There are several types of ramps that will allow you access to homes with stairs. These ramps vary in height from five to ten feet. Some fold and others roll up. The major problem with most ramps is that they are heavy and awkward to handle. I also have a small aluminum ramp (3'x3') that allows me to go out of the house onto our rear deck and front porch while in my wheelchair.

Opening Jars: This becomes more of a problem as your hand and finger strength weakens. One person recommended using Craftsman strap wrenches. They come in a couple of sizes for different size jars and bottles. I use the "Oxo Goof Grip Jar Opener," a tool specifically designed for opening jars and bottles. This device has a handle on one end and a 'V' shaped head with a serrated edge on one side that allows you to open almost any size jar. For lids that just need a little extra nudge, I use rubber hand grips  that give me a better grip on lids. Prepworks is one company and they comes in three different sizes.

Grabber: One tool that is nice to have around the house and garage is a 'reach and grab' device. Most allow you to adjust the length. They have a handle on one end and a grabber on the other. If something drops to the floor or rolls under something, these devices are very handy. 

Keyboards:  Not everyone uses a PC anymore. I still do. Because of my wheelchair, I needed a cordless keyboard that could comfortably sit on my lap and I could move around. There are several portable keyboards on the market. I use Microsoft's Sculpt Ergonomic Destktop. The ergonomic aspect allows me to place the keyboard in my lap and rest my elbows naturally on the wheelchair arms.

As always, I would appreciate hearing from you on what makes your life easier (either in the comment section below or you can email me).

How Can I Help?

Acceptance is something I have written about several times over the years. Unfortunately, it is not a light switch that can just be turned on. It is not something that automatically means you are happy again or brings you comfort. In fact, there are still things in my life that I have not fully accepted yet.

This process of rediscovery is a never-ending journey for me. Every time I accept something new about my condition and myself, it is like another awakening. In addition, whenever I find a new way to express myself and help others, it opens another door.

Several years ago, I was watching "Saturday Night Lights." The high school football team was down 26 to zero at the end of the first half. The coach ended his halftime pep talk to his players with the following. "Every man at some point in his life is going to lose a battle. He is going to fight and he is going to lose. What makes him a man is that in the midst of the battle he does not lose himself."

Dr. Phil says it another way, "What happens in your life will affect you, but it does not have to define you."

As I travel life’s highway, I need to focus on the moment, forget about the past, and not be too concerned about the future. The only thing I have any control over is this my attitude at this moment.   

Another favorite saying of mine is, "Nothing comes into existence uninvited." If I worry about what could be, it will probably come to pass (or maybe even something worse). On the other hand, if I focus on what I can do today to make a difference for others, then the past and the future really does not matter.

So, my question for you is...

Disability; How to Apply for

Notes:
1. Even though the process will be different in other countries, I believe the principles and suggestions will apply to any process.]
2. This is a long article. Consider printing it and filing it with other related information.

Depending upon the type of work you do, at some point you might need to consider retiring because of safety issues and/or inability to perform your assigned tasks.

Social Security – Disability (SS-D) is important to many of us in the United States who are forced to retire early because of health related issues. A few years ago, I wrote a 'guide' for applying for SS-D based upon my experience. Since the guide is twenty pages long, in this post I will try to focus on the ‘key learnings' that might make the process easier for you if you ever need to apply. There is a link to the PDF guide at the bottom of this article.

How SS-D works: It is important that you understand how Social Security defines 'disability'. That is because other programs have different definitions for disability. Some programs pay for partial disability or for short-term disability. Social Security does not. Disability under Social Security is based on your inability to work. You will be considered disabled if you cannot do work you did before and they decide that you cannot adjust to other work because of your medical condition(s). Your disability also must last or be expected to last for at least a year or will result in death.

• Note: Progressive disorders are different and this is why you need to work with your doctor and your Social Security representative in order to explain the gradual and continual loss of certain functions. 

Here is how to make the process work for you

I know you can apply on-line, but I do not recommend it. You have a story to tell and someone needs to hear it. For my reasoning, see “Educate the Reviewer” and “Tell your Story” below. You do not want to be a name on a form. You want someone to associate your face, personality, and capabilities with your condition.

A doctor who reviewed disability claims for a Fortune 100 company gave me the following advice on the disability application process.

Start the process early. Do not wait until you are totally disabled before beginning the process.

Be patient. The process takes time. It is not uncommon to wait 90-120 days before hearing the results of the application.

Fill out the forms completely. The disability process is no different from any other application process (e.g., home loan, employment, etc.). Provide explanations for terms used. Leave little to interpretation.

Remove your emotions from the process. Think of it as a business deal – your business. Learn the rules of the game and make the rules work for you. The 'red-tape' and follow-up letters asking for additional information are all part of the game.

Understand how the forms are written. The disability process is written for people with a sudden illness or disability – not for people with progressive illnesses where there is no treatment or cure.

Understand the process. Remember that the Social Security Administration is a government agency. Applications are denied the first time if insufficient information is there to make your case. 

Other comments on SS-D 

Document everything. The more information and details you can provide up front, the smoother the process will go.

Provide a history of the progression. You have been living with this condition for years. Include falls, injuries, hospitalizations, problems with performing certain tasks, etc.

Educate the reviewer. Do not expect the reviewer to understand Kennedy's Disease or your specific situation. The reviewer can be an excellent advocate if he/she understands Kennedy's Disease and your specific disabilities in regards to work. Give the person all the information they need to understate your condition. As much as possible, relate symptoms and progression to other similar conditions that are more recognizable, i.e., ALS, Muscular Dystrophy, and Huntington’s Disease.

Preparation is the key. The more prepared and organized you are, the better the chance for approval. (For example, I was approved in six weeks)

Make it easy for others. Below are several comments on how to help ease the reviewer (and others) through your disability application process. The easier it is for them, the easier it will be for you, and the better chance for approval.

Employer: Discuss your intentions with Human Resources and your manager or supervisor. Ask for their support. You do not want them to be surprised when a Social Security representative contact them asking for information.

Neurologist: Advise your doctor(s) and his/her staff that you are applying for Social Security-Disability benefits. Ask the doctor(s) for his/her support. Review (preferably in written form) your current symptoms and any health-related issues that affect your ability to perform your current duties.

Initial submission: Provide the reviewer with as much information as possible. The more information the reviewer has to work with initially, the less information he/she has to write off for – meaning a delay in the process. The more information requested by the reviewer, the greater the chance the doctor's office will not be able to find it and/or it will be delayed.

Tell your story: Control the information flow. The most important information should be in the front. Sections should be tabbed and key statements/information highlighted so the reviewer can easily find the critical information he/she needs to make a decision. 

Use the 'Supplemental Section' to educate the reviewer: The reviewer probably has never heard of SBMA. Tell them about Kennedy's Disease, its symptoms, its treatment, etc. There are excellent articles on the KDA website and on the internet that explain the disease to a layman.

Provide the information in a 'report' format: Tabbed, with sections, page numbers, a table of contents, etc. - so the reviewer can easily locate the information he/she is looking for. I submitted a three-ring binder. Keep a duplicate three-ring binder of all the submitted information. This will keep all of your information in one place and easy to find.

Review before submitting: Dot the i’s and cross the t’s: Be sure to sign and date all the forms. Have someone else review the submission to make certain they understand it and can find the information needed. 

A Few More Suggestions 

• If called, refer to the information needed by section and page number so the reviewer can easily find what he/she is looking for. 

• Take your binder with you to any reviews or hearing. 

• Be patient and responsive to follow-up inquiries by the reviewer. 

• Follow-up with your doctor, H.R. and supervisor to insure they provided the requested information. I asked for copies of their submissions and added them to my binder. 

How long does the process take? Plan on 60 to 90 days. It generally takes longer to process claims for disability benefits than other types of Social Security claims. You can help shorten the process by bringing certain documents with you when you apply and helping the SSA to get any other medical evidence they need to show you are disabled. The points mentioned below will help shorten the process. 

Be prepared to provide:

• Your Social Security number and proof of age 

• Names, addresses and phone numbers of doctors, hospitals, clinics and institutions that treated you and dates of treatment 

• Names of all medications you are taking 

• Medical records including test results from your doctors, therapists, hospitals, clinics and caseworkers 

• Your work history. A summary of where you worked and the kind of work you did 

• A copy of your W-2 Form (Wage and Tax Statement), or, if you are self-employed, your federal tax return for the past year 

• Family information including names and dates of marriages and your children’s births. 

Do not become frustrated. It is not uncommon to be denied the first time. If that happens, schedule a meeting with your local Social Security Representative to review your application and ask for their opinion why the application was denied. Try to remove your emotions from this discussion. It is easy to become frustrated and start blaming the system or others, but it will not speed up the process. Work with your representative to resolve any known issues with the application or concerns with your claim. The representative can be a great advocate. Then, file an appeal.

To learn more about the application process, contact your local Social Security Administration office, by going online to (http://www.ssa.gov/disability/) or, by calling 1-800-772-1213.

The PDF guide I wrote can be found here: https://www.kennedysdisease.org/images/stories/PDFs/Social_Security-Disability.pdf

I hope this brief post helps to explain the process and some key 'learnings' based upon my experience. Should you have additional questions or comments, please don’t hesitate to contact me.

I Am Not A Victim

[This is another take on a 2009 post of mine]

One of my favorite saying is, "I choose my attitude in every situation." I choose not to consider myself a victim.

I will date myself by remembering the old Timex commercials where the watch would go through some ridiculous situation that no watch should survive and then John Cameron would say, "Timex—It takes a licking, but keeps on ticking."

A little while back, there was an article in the Goodlife Zen titled, "Why Some People Thrive No Matter What Happens.” The guest author, Gail Brenner, commented, “The key to remaining resilient is to not identify yourself as a victim.”

The dictionary defines "resilient" as “recovering readily from adversity; rebounds easily.”

Ms. Brenner commented in her article, "Resilient people understand that anything can happen. They realize that the world is not fair and that difficult things can happen to the most wonderful people. They figure out how to pick themselves up and move forward. It might take a long time and happen in tiny increments, but the predominant movement is forward—toward living and not just existing."

Another key comment in the article was, "Being resilient means understanding that we cannot control what happens to us, but that we can control how we relate to what happens. We get to choose. We can carry around the tragic events of our lives, letting them color the way we view ourselves and the world, or we can prosper." 

"…People who are resilient accept what happened, but resist defining themselves by it."

The author mentioned a study that revealed several qualities of resilient people. “Resilience People have:

• Strong relationships with people who support, encourage, and reassure 
• The willingness to allow strong feelings – anger, grief, fear – without avoiding them 
• Confidence – an attitude of "I can," rather than "I can't" 
• Trust in oneself and one's abilities 
• The capacity to learn from life experiences” 

“Resilient people nurture themselves, and seek help when needed."

Photo: https://elixirconsulting.com.au

Many Mistakes and Many Learnings

Since Kennedy’s Disease is a progressive neurological disorder, your capabilities and needs will change over the years. I found that quality of life decisions are an important factor in how we view our condition. Fortunately, there are tools that will progressively provide greater support and mobility when you need it. Unfortunately, if your ego is anything like mine, it gets in the way of your timing, purchase and use of these tools.

Cane: I should have started using a cane way before I did. If I would have, there would have far less falls, and a few less injuries. Using a good quality cane, sized correctly, would have been an easy transition; yet, my ego would not let me use one. It took a broken fibula to force me to try using one. Once I started, I loved it because it provided me with greater confidence and more support.

Tip: The cane should be adjusted to the proper height so that your forearm is bent at a 25-30 degree angle when the cane is parallel with your leg (straight down your side). The cane should have a grip that is easy to hold on to and an end-tip that does not slip. For better balance while walking, look straight ahead (not down).

Walker: A walker should have been another easy transition, but … my darn ego got in the way again. I could not picture myself using a walker under any circumstances. It took another serious injury before I progressed to using one. I also found that I did not need the walker all of the time, but it sure was a useful tool when I needed it.

Tip: The walker height should be set so that your posture is upright and your forearms are bent at a 25-30 degree angle when grasping the walker. The walker is meant for balance, not for holding up your weight. For better balance while walking, look straight ahead (not down). Tennis balls placed on the end tips help improve traction on slippery surfaces.

Scooter: A scooter was far easier for me to accept. Even though a wheelchair would have been a smarter purchase at the time, I could not envision myself in a wheelchair. Somehow, however, I could see myself using the Evil Knievel endorsed four-wheel scooter. I figured anybody that could jump over twenty school buses or attempt to jump across the Snake River in a rocket sled must know something about scooters. I wanted something that would allow me to go with my wife when she went for walks. I needed a scooter that would take me back into the wilds of southern Pennsylvania.

Unfortunately, I did not use my head and spend a few more bucks for a model that would be more versatile and allow me to go into the woods without getting consistently stuck. Now that would have been a worthwhile investment. I also learned quickly that a scooter is not very good indoors—poor turning radius. In addition, it is much more difficult to transport. In the end, my Evil Knievel special did not allow me to jump anything … not even a small branch in the path. Bummer!

Wheelchair: It took a broken tibia and fibula before I finally progressed to a power wheelchair. This was a good investment and well worthwhile. We also bought a platform lift (another good investment) that lifted the wheelchair into the van and actually charged it while in transit. The wheelchair allowed me to go for walks with my wife and attend community events (both indoors and out) without the fear of falling or becoming too fatigued. I no longer slowed down the other walkers and normally they wear down before my battery does. Being able to travel 25-30 miles on a charge and cruise around at 5-6 mph works well for almost any situation.

Once again, however, I missed the boat by not thinking 3-5 years into the future. Even though the wheelchair opened many doors (opportunities) for me, a little more research and a few more bucks invested up front would have really made a difference. For example, the ability to elevate the seat to make it easier to stand up.

By now, you should see the pattern. I waited too long, did not consider my needs thoroughly—especially 3-5 years out, and placed price above needs. Through the process, I learned several things that I want to share with you.

#1 - Do not wait until you are injured to consider a mobility aid (cane, walker, scooter, or wheelchair). With the right mobility equipment, your life does not have to come to a stop.

#2 - Do not just consider your current needs. Take into consideration your future needs—what you might need in the next 3-5 years. Then, look at what you have recently given up because of your safety concerns. Are there devices or options that will allow you to enjoy life a little more fully. For example, if you can no longer stand for long periods of time, would a chair that has a seat that rises up be helpful? It allows you to be eye-level with others in group settings. Do you need a chair that can climb a curb, stairs, or be capable of cruising through the woods? Almost anything is available today, but it comes with a price.

#3 - Do not just consider cost. You are talking about your safety, lifestyle, and future mobility. A few extra bucks spent upfront could make all the difference in the world to your safety and happiness.

#4 - Do not be afraid to negotiate. As mentioned, a scooter or wheelchair is a major investment. If you have done your research, shopped around, and considered all of your options, you will know what the best deal is.

#5 - Do ask for advice from others. Many of us have experience with the equipment you are considering (options, makes, models, maintenance, etc.) I saw a seating specialist. She determined my needs now and in the future. She let my try several different chairs, several options, and several types of seats. It really made a difference in my confidence level.

#6 - Do consult with a physical and occupational therapist. For scooters and wheelchairs, we are talking a major investment (even if the insurance company pays for most of it). For canes and walkers, therapists know how to adjust them correctly and what you should be considering. Their expertise could be very beneficial as well as save you some grief down the road.

#7- Do shop around. The internet is an excellent place to check on prices, options, models, and suppliers, but it is not the only place. Visit a show room and ‘test drive’ the models you are considering.

#8 – Do consider used equipment. Previously owned mobility equipment is an excellent option, especially for a first time user. When considering used equipment, have a qualified person inspect it before sealing the deal.

#9 – Do consider who will service your mobility equipment. No matter how good a deal you get, if you are stranded somewhere, it is no fun. Ask for recommendations from other users. If you do decide to buy online or from some out-of-area supplier, talk to a local company to see if they will service (both warranty and other maintenance/repairs) your scooter or chair. 

#10 – Do check to see what your insurance provider or Medicare will pay for. Medicare, for example, will not pay for an elevated seat option. Without it, however, I am reliant on others to help me transfer. So, I am willing to pay for this option.

I hope this is helpful. If you have other suggestions or questions, please do not hesitate to comment. Remember, safety is job #1.

It Was A Coin Flip...

And, I lost. 

[ This is an update to a 2009 post ]

Spinal Bulbar Muscular Atrophy, aka Kennedy's Disease, is an X-linked disorder. In other words, an X-chromosome is defective (mutated). Kennedy's Disease is caused by a trinucleotide repeat expansion in the androgen receptor gene. This means that the cytosine-adenine-guanine (or CAG) that are normally repeated 10–36 times mutate (expand in our DNA string) to produce a larger repeat size of approximately 40–62.

This CAG sequence is unstable and can change from one generation to the next leading to further expansions. If the person with the defective gene is the father, he cannot pass the gene on to any sons. However, he will pass the defective gene on to any daughters. If the person with the defective gene is the mother, she is a carrier. With a carrier, there is a 50% chance that the defective gene will be passed to any of the offspring.

50% Means One of Two - Right?

Often, there is a misconception that 50% means half of the offspring will have the defective gene. 50% does not mean one out of two chances. It does not work that way. As with any coin flip, heads or tails could come up five, six, or seven times in a row. The 50% means nothing more than over a very large number of flips, half of the time it will be heads.

My mother was a carrier. Her mother had five children and only passed along the defective X-chromosome to my mother. Then, my mother gave birth to ten children (3 girls and 7 boys). Only three of the ten children have the defective gene. I know of other cases where most of the children have the defective gene. The only way to be sure is to take the DNA blood test for Kennedy's Disease.

Now, there is another misconception. Kennedy's Disease does not manifest itself in the same way with everyone. Even if you have the mutated gene, that does not mean that you will have all the symptoms or when the onset of the disease will occur. Not everyone with the defective gene is going to respond the same. Onset could start as early as the teens (this is rare, however), or it could also start in the late sixties. Normally, the onset will occur in the thirties or forties. One person in the family might have most of the symptoms, while another might have only some of the symptoms. The severity of the disorder is also not the same within a family. Researchers currently believe the higher the number of CAG Repeats, the earlier the onset.

So, when my father's sperm fertilized my mother's egg, I lost the coin flip (it came up tails = defective gene). No wonder I have never won the lottery.

No, wait, perhaps it is because I never play the lottery.

Egg-Sperm - https://www.livescience.com/13264

What is the Defect in our DNA?

[Updated 2009 Post] 

A few years ago, I asked one of the doctors on the KDA's Scientific Review Board to describe the defect in our DNA and what it means to those of us living with Kenndy's Disease. His explanation follows:

"The androgen receptor is important for our body's response to male hormones, such as testosterone and dihyodrotesteoserone. The receptor is like a baseball glove, and normally catches ("binds") androgens and then moves them to the nucleus, which is the main control center for the cell. There it helps control the things that make us men (like the genes for watching TV while lounging in our favorite chairs). In Kennedy disease, it is as if the lacing has come out of our baseball glove, and the androgen receptor is not working right. The glove does not have the right shape (it is misfolded), and that makes it hard to catch the baseball well. The androgen receptor can still move to the nucleus, but because it is misfolded, this causes problems. The cell does not work right and eventually might die. And, since this androgen receptor is made by both motor nerve cells and muscle cells, this causes us big problems with moving our arms and legs, and swallowing."

Now for a more scientific explanation, a college professor on the board provided the following:

"In Kennedy's Disease, the defective gene is in the "X" chromosome. The symptoms of Kennedy's Disease are due to a mutation in the gene that produces the androgen receptor (AR) protein. The AR protein acts to mediate all the effects of androgens (testosterone and dihydrotestosterone - male hormones) in cells and in our bodies. Those individuals with Kennedy's Disease produce an altered form of the AR protein, a form that, while it still works well enough mediating the effects of androgens (and so males are still male), produces an additional effect of causing certain spinal cord and brain cells to die. The affected nerve cells are primarily those that control the activation of muscle cells. When the nerve cells die, the muscle fibers that they control shrink and become inactive causing the muscle weakness characteristic of Kennedy's Disease."

Research suggests that the altered form of the AR has problems being recycled (cleaned of all garbage) in the presence of androgens and instead of being completely removed; mutant proteins (the garbage) are only partially digested in the affected cells. This partial digestion of the AR results in the production of AR fragments that, through an unknown mechanism, are toxic to cells. Since this effect is dependent on relatively high levels of androgens, severe muscle weakening is generally not seen in women who carry the mutant form of the AR gene.



Okay, now that I have read both explanations, I feel a little more comfortable. However, I still do not believe I have accomplished what I set out to do today and that was to simplify the explanation. So, I asked "Joe, the Plumber" and he explained the defect like this. “The thingamajig is broken and that causes the whatchamacallits not to work properly.” Now that helps. 😛

Just Be There

For those of us living with a progressive disorder, knowing we are not alone is important mentally and emotionally. 

The dictionary defines "support" as: (1) to hold up or provide a foundation, (2) provide assistance, (3) the act of helping to bear the weight or strengthening. Nowhere does this word mean, ‘to fix.’ I was always a ‘fixer’. I tried to make things better, but often found I was not helping at all. I am learning that often you just need to “be there” for others in their time of need.

My father had a gift; one that I do not possess. He could "be there for you." My dad spent a good deal of his evenings and Sunday afternoons visiting shut-ins or people in the hospital. On several occasions, I went with him to help perform some needed chores around the person's house while he or she recovered. The one thing that amazed me was my father’s ability to "be there" without intruding. Many times, he would just sit there in the room without saying a word. At other times, he would be chattier than his usual self. 

I asked him one time how he could just sit in a room with a person for over an hour and not say anything. He responded, "You do not always have to talk to carry on a conversation." At the time I did not have a clue what that meant. 

He also told me that often a person, especially someone with a serious illness, does not want to talk about it. They just want to know that you are there and praying for them. He felt you never really knew what was going to happen when you visited someone. It was important that you not try to say the right words, try to help, or try to carry on a conversation. It is your job to be there for them in whatever role they need at the time. He surprised me when he added, “Sometimes that means you are the punching bag.”

Many a time I saw him sitting next to someone's bed and holding his or her hand. Other times, I saw him kneel next to the person's bed and pray. Often, I saw him crying afterwards. One time after we left a person's house that was dying of cancer, I asked why he does this if it tears him up so bad. He said, "Because they need to know they are not alone."

When I then asked him how he knows what to say, he commented, “I don’t know what to say until I sit with the person. I just have faith that the right words would be there when needed.”

He also mentioned something that hit home much later in my life. "Never say that you know what a person is going through, because you don't. Be there for them. Let them take the lead. And, be patient."

Anger and Frustration

Several times a year someone will contact me lashing out at the world because he has Kennedy’s Disease. He vents his anger, frustration and blame at me for being accepting, or at the research community for not having found a cure, or at God for allowing this to happen to him.

Surprise - surprise, I was not always accepting. In fact, several years ago, I wrote a short story based upon some of my experiences. The basis for the story came from "The Nine Stages of Grieving" published by the University of Buffalo. When I read the story the other day, I realized it was not very good. It was, however, a sincere account of my perspective as I transitioned through most of the stages.

Since everyone is unique, the stages do not necessarily come in the order described below. 

Denial

It is difficult for you to accept your own condition. As a result, you will deny the reality of the disease and make excuses for your falls, cramping and fatigue.

Shock

Once you are convinced that you have the disease, reality sets in. You keep your thoughts to yourself, but find it hard to think of anything else. When asked what is wrong, you do not want to talk about.

Anger

The "Why me?" stage. You are angry at what you perceive to be the unfairness of the situation and you may project it at others, especially loved ones. This is a frustrating stage for family and friends because it follows the period when you were not talking.

Bargaining

At some point, you will attempt to bargain with some sort of deity. You will probably offer to give up something in exchange for the return of your health. Family and friends notice a remarkable change in your attitude.

Guilt

You may find yourself feeling guilty for many things you did, or did not do. Or, you might feel embarrassed for all the emotional pain and financial stress you are and will be causing your family. You often apologize for things no one else remembers. In addition, if you have a daughter, you are the reason why she is a carrier.

Depression

You may at first experience a sense of loss. Mood fluctuations and feelings of isolation and withdrawal may follow. Encouragement and reassurance by others will not be helpful. Your family and friends become concerned. They will try to reach out to others in an attempt to help.

Loneliness

As you go through changes in your capabilities, you might become reclusive and not engage with anyone. You believe no one understands what you are going through, leading to feeling alone, isolated, and afraid.

Acceptance

When this stage arrives, it does not mean happiness or bring comfort. Instead, you are now able to accept and live with the reality of the situation. Life once again moves forward. You find that you can easily admit to yourself and others that you have the disease. You might even tell yourself, “I can live with this.”

Hope

Eventually, you will become mentally and emotionally comfortable with your condition. As the thought of it becomes less painful, you begin to look to the future and realize there is life after Kennedy's Disease. You embrace special moments in life with family and friends.

At the end of my nine stages, this is what I wrote:

"As with most everything in life, time heals most wounds. Many of my initial fears did not materialize. I reached out to a community of others living with the condition and found I was not alone. I learned that people were accommodating and would be there to help. Instead of being a burden, I was still valued as a husband, father, grandfather, great grandfather, friend, and business associate. Just as important, I found I still had something to contribute to the world.

With this knowledge, I discovered something that had been missing recently in my life – Hope."

This is my story, what is yours?

http://pixar.wikia.com/wiki/File:Anger-away.jpg