The Clock is Ticking - Another perspective on research issues

I asked a member of the KDA's board of directors, who is also a biology professor, to comment on the Newsweek Article that I wrote about in "The Clock is Ticking." The article, "Desperately Seeking Cures - How the road from promising scientific breakthrough to real-world remedy has become all but a dead end," focused on why cures and treatments are so difficult to move from the test tube and lab mouse stage to clinical trials and actual usable drugs/treatments.

The professor was fortunate enough to spend a summer working in a Kennedy's Disease lab at Thomas Jefferson University. He came away with a better understanding of the research process as well as the difficulties in dealing with genetic disorders. I thought you would find his thoughts on the subject interesting.

"The article is intriguing and brings up some interesting points, however, it ignores what, in my opinion, is the biggest reason for the lack of drugs for these diseases. Each of the diseases discussed in the article are difficult to cure. They are generally diseases that have no known cellular mechanisms of causation that can be easily corrected. They are not caused, for example, by pathogens that can be treated with antibiotics or immunizations. Almost all of them deal with genetic changes in which the exact reason for the disease is not well understood. Looking at KD, for example, in 1991 it was discovered that KD was due to an elongated CAG repeat in the gene for the androgen receptor. This causes the cells to make an altered form that, for some reason, causes certain cells to die. Even though we knew the actual cause of KD (the mutated gene), we had no idea why this mutation caused KD, nor how to cure it. Over the past 20 years, the researchers (all the ones we know) have struggled to figure out why nerve cells die in KD (just as researchers of Huntington's Disease struggle doing the same thing for HD) with the hope that if it is understood why the cells die; they will be able to stop it. The research has certainly advanced, but it is still not clear what causes the cell death. It is quite difficult to stop something that is not understood. While a treatment may pop up at any time, the reality of the situation is that it will take time. These are not easy diseases.

I do not know enough about patents and drugs to make a real comment, although I have read complaints that out patents are too lenient!

Also, note that one of the items that the article felt was necessary was the sharing of info between researchers - something I believe 'our' researchers already do (and the KDA encourages)."

As I mentioned in my original article, "The Clock is Ticking," I believe there are three sides to every story. The comments above are probably closer to the truth in regards to Kennedy's Disease research. However, for those of us in the sixties, seventies, and eighties, the clock continues to tick.

Being a 53 is not an excuse

After reading the "Natural History of SBMA" study, one of the first things I said was, "Aha!" The study explained or verified several assumptions for me. It also made me look back a little more thoroughly on my progression. I found it helpful and haunting in some respects. I do not like to dwell too long on the negative aspects of living with Kennedy's Disease unless it serves a purpose (e.g., preparing for the future). I also do not like to make comparisons, but this study really made me think.

• The average CAG repeats of the 223 patients studied was 46.6 with the range being from 40 to 57. I have 53 repeats and that is at the higher end of the spectrum.
  
• I always wondered why I was fortunate enough to see my onset in the early 30s while several others with Kennedy's Disease did not start seeing symptoms until the 40s and 50s.
  
• I also wondered why at first the symptoms progressed slowly, but since the mid-50s, the progression seems to be accelerating.
  
• I thought that leg weakness was my first ADL, but now I believe hand tremors were first (mid-to-late 20s). I remember holding a coffee cup and saucer at my mother's house and the cup was vibrating.
  
• I knew that pneumonia was dangerous for those of us with Kennedy's Disease (I lost a brother this way), but did not realize that dysphagia (choking – dry drowning) could be a cause of death.
  
• Before I started practicing Qigong, my Serum CK was 800 and rising. I was lifting weights and using a treadmill … pushing myself to the limits several times a week. Within a year after starting Qigong, however, my CK had dropped to 272 (almost normal). It remained in the 270 to 350 range thereafter. This proved that exercising "smartly" did not increase the damage to my muscles.
  
• My Serum AST and ALT have been mid-range (normal) throughout the progression.
  
• My total cholesterol has also been normal with very little fluctuation through the years (at least I have some good genes).
  

These last three bullets along with my cholesterol, weight and blood pressure are positive signs regarding my general health. I need some good news occasionally, right?

I do not believe I have ever used Kennedy's Disease as an excuse not to do something. At times, however, I have used Kennedy's Disease as a reason for not being able to do something. It was normally because of safety concerns. Other times, it was because of a known inability to complete the task (previous experience) like mowing the lawn, cleaning the gutters, or climbing a ladder.

When I was younger, however, I often used Kennedy's Disease as an excuse to push myself even harder (and occasionally too far). In my forties and early fifties I just could not accept that my legs were not strong enough to do certain things any longer. Because of this irrational thinking, I experienced many falls and several injuries.

Today, I choose to believe that "acceptance" is far better than injury and it is different than "giving up." Perhaps I am just a little smarter these days. I sure hope so.

Life is symbiotic

I watched the much-hyped 2½-hour conclusion to "Lost" the other night. I have been a fan of "Lost" over the last six seasons. There were times where I almost gave up on the series because I felt the writers were just making up plot lines without an end in sight. Being a writer (and I use that term loosely), I believe you never just let the story run all over the place without a specific purpose. What kept me interested and involved though was the characters. I felt they were all original (somewhat unique) because they had flaws as well as positive attributes and abilities.

Each character had to change (evolve) because of the situations (hardships and experiences) they were forced to endure. Characters that refused to change died (were written out of the show). Another important factor in each character's development was the need to recognize he/she could not accomplish some important task (whatever the situation was at the time) without asking for help.

I found one piece of dialogue near the end interesting. "There are no shortcuts or do-overs. We all need to let go at sometime or we can never move on."

After watching the conclusion to "Lost," I felt that in some respects this series reflected a journey; a journey similar to what many of us living with Kennedy's Disease have to take. We have to evolve because of the ever-changing situation that we go through with the progression of the disease. And, if we do not change (evolve), we will wither away and die (philosophically speaking).

Part of this evolution is the realization that we no longer can do everything. We have to learn to ask for help when it is needed and be able to accept help graciously.

Earlier in my life I was often running on autopilot. Life was good and I was in control (or at least I thought I was). I was in good physical condition and in good health. I had a good job, good friends, and a great family. Most importantly, I had found the love of my life. What more could anyone ask for? What more ... right!

One of the hardest things I ever went through was the acceptance process. Learning to live with Kennedy's Disease is a daily struggle. I am no longer the guy that I was (or that I thought I was). There are times when I need help. There are people that want to help (to lend a hand) and I just have to be open and willing to accept that help. Letting go of my belief that I can still do certain things was (and, at times, still is) very difficult for me. I fought the notion of letting go because I felt it was giving up. With acceptance comes a sense a release and relief. Buddha said, "Learn to let go. That is the key to happiness."

Life is symbiotic. We all have needs and, more importantly, something of value that we can give to others that are in need. There are no shortcuts or do-overs. We all need to let go (acceptance) so we can move on (evolve).

The clock is ticking, so what is the holdup?

During the May 15 KDA chat room with Parsa Kazemi-Esfarjani, B.Sc., Ph.D., a researcher from the University of California, San Diego, two attendees became upset over the slow progress being made by researchers in finding a treatment or cure for Kennedy's Disease. These two attendees were in their 70s and 80s. The gist of the comments focused on why researchers cannot test their potential treatments (drugs) on volunteers that are willing to be guinea pigs, so to speak. Parsa, a 2009 KDA research grant recipient, was most gracious in trying to explain his position and also his empathy for the process.

I do not know of many researchers that would not like to "fast-track" their research if they felt it was viable. The process for bringing a drug forward to a clinical trial is time consuming and oftentimes frustrating. There are reasons for this long, drawn out process and I am certain that if it was not in place there would be more abuse than benefit.

Thursday, Parsa sent me an email about an article in Newsweek explaining why biomedical research is so slow in generating effective drugs. I read the article this morning and thought it would be an excellent topic for this blog.

Below are some excerpts from this excellent article called "Desperately Seeking Cures - How the road from promising scientific breakthrough to real-world remedy has become all but a dead end."

"More and more policymakers and patients are therefore asking, where are the cures? The answer is that potential cures, or at least treatments, are stuck in the chasm between a scientific discovery and the doctor's office: what's been called the valley of death."

This paragraph captured my attention. Then it went on to read about the discovery of a gene called ABCC6 which, when mutated, causes a genetic disease called PXE. Once the gene was discovered, lab mice need to be developed, and then screening (testing one molecule after another to see which had any effect on ABCC6) must take place. The article goes on to say ...

"But "academic scientists aren't capable of creating assays [test systems] to do that," says Sharon Terry, CEO of the Genetic Alliance, which supports research on rare genetic diseases (her children have PXE). "It's time-consuming drudgery and takes an expertise that hasn't trickled down to the typical academic scientist."

"Should a lab be so fortunate as to discover a molecule that cures a disease in a lab rat, the next step is to test its toxicity and efficacy in more lab animals. Without that, no company—for companies, not academic scientists, actually develop drugs—will consider buying the rights to it. "A company wants to know, how specific and toxic is the molecule?" says Kenneth Chahine, an expert in patent law at the University of Utah. "It might work great in a mouse, but will it make a rat keel over? Doing this less fun research is not something an academic lab is interested in. The incentive driving academic labs is grants for creative, innovative research, and you're not going to get one to learn how much of a compound kills a rat."

The article then explained about how this academic culture hinders finding a treatment for Huntington's Disease (something very similar to Kennedy's Disease). It takes us through the process and downfall of this next step in the process. Later, it explains what happens if everything works and a treatment is found.

"If a discovery is licensed, the licensee then has to raise enough money to test the compound's toxicity (does it kill the lab rats? give them seizures?), to figure out how to make it in quantity and with uniform quality, to test the drug in larger lab animals such as dogs, and then to test it in people. Because large drug companies have been merging and retrenching and have become more interested in buying early-stage research than in doing it themselves, this role has been falling to biotech firms, which are smaller and poorer. It is at this step—turning a discovery into something that can be manufactured and that is safe and effective—that the valley of death has gotten dramatically more fatal over the last few years. "NIH grants don't support the kind of research needed to turn a discovery into a drug," says Gulve, so the money has to come from elsewhere."

"Human testing is even more expensive—tens of millions of dollars ..." "Research funded by the Multiple Myeloma Research Foundation at a small biotech led to a promising new drug for multiple myeloma, a cancer of plasma cells in bones. But the firm was bought by a large drug company that decided against testing the drug in that cancer, calculating that the payoff would be greater if it could be shown to work against the big four (breast, lung, prostate, colon) or leukemias."

Unfortunately for a RARE disease (like Kennedy's Disease), everything boils down to money. In other words, where should the money be invested to reap the largest reward? The article then brings forward potential steps needed to resolve the situation.

"If we are serious about rescuing potential new drugs from the valley of death, then academia, the NIH, and disease foundations will have to change how they operate. That is happening, albeit slowly. Private foundations such as the MMRF, the Michael J. Fox Foundation for Parkinson's Research, and the Myelin Repair Foundation (for multiple sclerosis) have veered away from the NIH model of "here's some money; go discover something." Instead, they are managing and directing scientists more closely, requiring them to share data before it is published, cooperate, and do the nonsexy development work required after a discovery is made."

"Forcing cooperation among turf-jealous academics could break a lot of logjams. "There are thousands of researchers working on exactly the same thing," says Bruce Bloom, whose Partnership for Cures foundation supports research on new uses for existing drugs. "Under the current system they cannot and will not collaborate for fear that it will jeopardize funding, patent protection, and publication. Look at the progress open-source software has made in IT. Imagine the progress open-source research could make in biomedicine."

The article ends with this statement: "In perhaps the clearest sign that patience among even the staunchest supporters of biomedical research is running thin, the health-care-reform bill that became law in March includes a Cures Acceleration Network. Located at the NIH, the network would give grants ($500 million is authorized this year) to biotech companies, academic researchers, and advocacy groups to help promising discoveries cross the valley of death. It may or may not make a difference. But something had better, and soon."

I believe there are three sides to every story.

Perspective A    <=======>    Perspective B

              And, the unbiased truth

I am not certain where this article is located in the above spectrum. That being said, I thought I understood the process, but this article opened my eyes even further, and what I saw, I did not like.

The old axiom, "The squeaky wheel gets the grease" is true. It is perhaps time we make a little more noise.

Endorphins and Warmer Weather; a healthy combination

I have been feeling very good recently. I am amazed at the improvement in strength. I am not saying I am ready to run a race or enter a weightlifting contest, but it sure is nice to add reps to my morning exercises without straining or making my muscles feel abused afterwards. My every-other day routine is now up to ninety minutes of exercises. The lighter (in between) days are still 20-30 minutes.

I believe part of the difference is the warmer weather. I just seem to function better when it is warmer. I now understand why my brother moved to Arizona. I also attribute some of the improvement to my exercise program. I have only missed one day (Christmas 2008). Even though I still struggle occasionally, these last couple of months have been pure joy!

My legs have not seen near the improvement as my arm, shoulder and hand strength. However, the legs improved the most in the first year and have remained strong thereafter. It is also good to have the use of my left index finger and thumb again.

I find that I am happier after a good workout. Yes, I know about endorphins (Endorphins are released in response to pain or sustained exertion causing, e.g., the "runner's high"). The diencephalon, in the limbic area of the brain, stimulates the production of dopamine and endorphins. Most of my life
I have been addicted to endorphins. They helped eliminate (after a good run or racquetball game) a lot of stress during my working years. They have saved me a couple of times when I had a serious injury. Today, endorphins start working for me about halfway through my workouts. Afterwards, I feel a deep sense of accomplishment and general wellbeing.

Another part of this happiness has to do with the sense of accomplishment I feel afterwards. I stimulated my motor neurons (keeping them firing is important) and muscles and improved blood flow to all parts of the body. These exercises keep me in the game.

I continue to hope that the National Institute of Health (NIH) will sponsor a clinical trial on exercise. I feel that the more people understand the primary, secondary and tertiary benefits of exercise, the more they will be willing to try it. Of course, any good exercise program has to be practiced in moderation. I learned early on the negative aspects of exercise when done to excess. However, a well-rounded, regularly practiced program focused on stretching, aerobics, and (light) weight lifting can change your life … mentally, emotionally and physically.

Try it … you'll like it!

The guide is now available

Over the last couple of weeks I published several articles about financial planning and documenting everything. I incorporated this information (and added more detail, background, examples and images) into a document (PDF) I now call, "Preparing for Early Retirement; A Financial Planning Guide."

The guide is an eighteen-page document that will help anyone interested in possibly retiring early. There are also other recommendations, considerations and tips to help you prepare for the future.

Throughout the guide I relate some personal experiences that my wife and I went through while working this process. In the Background section, I explained "Twenty-three years ago, when my wife and I realized that my career might be cut short because of Kennedy's Disease, we developed our financial plan using the process shown below. It was a wakeup call. We discovered that based upon our current situation (savings, employee benefits, etc.), we would not be able to retire early unless something changed dramatically. Within a year, I had changed companies. The new company offered a pension, 401K, disability insurance, stock options, as well as other benefits. Seventeen years later we retired debt-free after exceeding our retirement goals."

__________________________________________

Table of Contents


Disclaimer    3

About the KDA    3

Background    4

Overview of the Financial Planning Process    5

The Seven-Step Financial Planning Process    7

1.    Evaluate    7

2.    Analyze    10

3.    Establish a Target and Goal    12

4. Execute the Plan.    12

5.    Measure Performance    13

6.    Review Results    13

7.    Adjust the Plan.    13

 
Other Planning Considerations    15

1.    Document Everything    15

2.    Short and Long-Term Disability Insurance    17

3.    When to begin discussions with your company    18

_____________________________________________

If interested, the PDF guide can be downloaded from the KDA website. While there, also consider downloading the Social Security – Disability guide to learn more about the requirements, resources, and support needed to complete the application process.

Are you afraid to go to sleep?

In an earlier post I wrote about Laryngospasm (we fondly refer to as "dry drowning"). Since then, a couple of people living with Kennedy's Disease asked about this health issue and if there is any help for this symptom. Recently, a daughter, whose father has Kennedy's Disease, wrote asking if there was something that would help keep her father from waking up choking in the middle of the night. Not everyone with Kennedy's Disease has this symptom, but it happens to enough of us that it is important to understand what it is and what can be done to help the problem.

 
Laryngospasm is a spasm in the throat (the vocal cords seize up blocking the flow of air to the lungs) that often occurs without warning in the middle of the night.  It can be triggered by a nasal drip hitting the trigger point in the larynx, acid reflux, or just from the vocal cords being weak and sagging a bit.  A person wakes up gasping for air and is not able to talk. The feeling is as if you have phlegm going down the wrong pipe and you are not able to clear it.   It is frightening the first few times, but once you know what is happening and that you are not going to die, the process is a little easier to get through.  Learning to deal with dry drowning and to minimize its impact is important.

What can you do when it happens? The best way to ease the recovery process is to remember that the more you gasp for air, the worse the situation becomes. 

• When gagging, throw the feet over the edge of the bed and sit upright. Often when we wake up with this gagging, we are prone and then only partially sit up.  By doing this, we are compressing the diaphragm making it more difficult to get a full breath of air to clear the blockage. 
 

• Try to relax and breathe slowly. Yes, I know that it is easy to recommend that you just sit there and relax, but it really does minimize the trauma. Panicking or tightening up only makes the situation worse. Tilt your head back and turn your head to one side. Breathe in very slowly through the nose with the mouth closed.  As the windpipe starts to open you might begin coughing up phlegm. 
  

This situation does frighten the wife (significant other) and children as much as the person experiencing the problem. All an observer can do is be there in case assistance is needed.  It is helpful to develop a hand sign (signal) so that you can communicate with others in the room when this occurs (e.g., a thumbs up if you feel that it is opening back up or a closed fist if it is not opening and you might need some help).

Since the Larynx is a muscle, it works like the other muscles in the body. If a muscle becomes starved for oxygen it will release (relax) thus, in theory, it should open back up.  We have never heard of a case where the person lost consciousness, but if that does happen, you might need medical attention.

What else will help?

• Elevate the shoulders and head by using a foam wedge (about 12" high). You can normally pick up one at any medical supplier. 
  
• Practice coughing every day.  What I mean by this is to try to bring something up several times a day by coughing hard.  Our lungs weaken and as they weaken, we find it more difficult to clear the throat when anything blocks it (including water, food, etc.)  As we strengthen our lungs through this practice, we find it easier to clear the blockage. 
  
• Practice sniffing every day.  With the mouth closed, take a deep sniff (filling up the lungs) and exhale normally.  Practice sniffing several times a day.
  
• Practice swallowing exercises every day. Stick out your tongue, bite lightly on it to hold it in place, and while holding the tongue swallow ten times (or more). This exercise will also make it easier to swallow food.
  
• Keep a bottle or glass of water next to the bed.  If I become dry, I take a drink.  Often, I am dry and I find water cleanses and clears the throat.
  

Since adding the wedge and practicing the exercises above, I went from experiencing the gagging/choking sensation more than once a week to maybe having one every 4 -6 months.  Over the last three years I have not had one gagging or choking experience in bed.


I would be interested if anyone else has any tips to help minimize the impact or eliminate the problem.

Document Everything – Part II

In my Financial Planning Guide, I included three other planning considerations. One of these was "Document Everything." I mentioned that it is very important because you tend to forget or misplace things as the months and years pass. All of this information will become important as you begin the application processes for Social Security-Disability (SS-D) and short/long-term disability insurance. It will also be useful in justifying the need for mobility equipment (canes, walkers, scooters, wheelchairs, etc.). In addition, if you ever move or have to change doctors, having your medical history in one location is an excellent way to update people on your condition and other health considerations.

 
The best advice I ever received on this subject was from a doctor at my company who reviewed short and long-term disability applications. He commented that I needed to treat the application process like any other business activity. Keep it professional and take the emotions out of it as much as possible. Understand the process, rules, restrictions and guidelines, and document everything.


Task:

1. Incorporate all the information mentioned in these two articles into a three-ring binder.
   
2. Have a tab for each section mentioned.
   
3. Update the information regularly.  

  
In Part I of "Document Everything" I reviewed two important spreadsheets, "Fall History" and "Medical Tests History." In today's article we will cover the other information I found to be useful.


"Physician's Statements and Medical Records" is a history of all doctors' visits and reports. Every time you visit your primary care physician or a specialist, ask for a copy of your medical report (the notes he makes during your visit) as well as any letters he writes on your behalf. When first developing your binder, ask your doctor for copies of all previous reports, tests, and correspondence related to Kennedy's Disease or any other health issues. Some doctors will ask to be reimbursed for the copying costs. It is worth the small investment.

"DNA Blood Tests" is a section for a copy or copies of any DNA blood tests for Kennedy's Disease. Also include in this section any other neurological test results indicating some type of neurological issues.

"Current Health and Symptoms" is a place to document all of your current symptoms and health issues (not only those for Kennedy's Disease). This is especially important since we often forget about symptoms if they are not present the day we are filling out an application or profile.

"Family Health History" should document all health issues of other family members. This can be for any type issue, not just neurological. It is important for your doctors to know if diabetes, heart disease, high blood pressure, cancer, etc. runs in the family. It also might help diagnose a health concern that is not directly related to Kennedy's Disease.

"Work History" documents your employment history including addresses, phone numbers, managers' names, position, etc. This will come in handy when filling out SS-D or long-term disability applications.

"Kennedy's Disease Background Info" is a section where articles on Kennedy's Disease are placed. Find good articles on the internet that explain the disease and its symptoms, reference no known treatment or cure, and gives a general prognosis for the progression of the disease. Attempt to find articles that are well written (easily understand by a nonprofessional). I would definitely include the study on the "Natural History of Spinal and Bulbar Muscular Atrophy."

"Disability Process" is where you keep information such as copies of applications for SS-D, long-term disability insurance, etc. Also include addresses, phone numbers, contacts, dates, summary of conversations, approval or denial letters, etc. I have found that quite often Social Security or another agency wants to know when I retired and when I began receiving SS-D and Medicare. Only having to look in one place to find all of this information is quite helpful.

__________________________________

Once completed, this three-ring binder becomes your reference guide for anything related to your health and disability. It is important that you keep the information updated. Every six months or so update your "Current Health and Symptoms" section. Update your fall history whenever one happens. Continue to collect copies of your doctor's reports and test results. Whenever you receive correspondence from the Social Security Administration, or any other company/agency related to your disability or health condition, place it in the binder. Do not wait until you need the information to bring it up to date.

When I applied for Social Security-Disability, I brought my three-ring binder to the interview with the local Social Security representative. Almost any question asked, I could answer or find the answer in the binder. Almost every report she needed copies of, I also had in the binder. This simplified the application process and allowed the representative to complete the forms and submit them almost immediately. As I mentioned in an earlier blog, the approval arrived in six weeks.


 

Document Everything – Part I

In my Financial Planning Guide, I included three other planning considerations. One of these was "Document Everything." I mentioned that it is very important because you tend to forget or misplace things as the months and years pass. All of this information will become important as you begin the application processes for Social Security-Disability and short/long-term disability insurance. It will also be useful in justifying the need for mobility equipment (canes, walkers, scooters, wheelchairs, etc.). In addition, if you ever move or have to change doctors, having your medical history in one location is an excellent way to update people on your condition and other health considerations.

 

You need to document everything related to your experiences with Kennedy's Disease including test results and doctor's visits. Ask your doctors for copies of all examinations and tests. Set up a spreadsheet that records all of your falls and injuries (date, at work or home, reason, injuries, etc.). If you do not want to use a spreadsheet, just keep track on a piece of paper. Incorporate all this information into a three ring binder with tabbed sections.

 

In today's article I will discuss two items that belong in your binder: Fall History and Medical Tests History. Often doctors and administrators tend to be selective listeners and we, as patients, do not always remember to tell them important information. If you have documentation, however, it is easier to explain your situation and make copies available for them to read during and after your visit.

My "Fall History" became an excellent tool when reviewing issues with my doctor as well as my Social Security – Disability (SS-D) advocate and the long-term disability insurance contact. I have also used it so support specific needs with Medicare and my supplemental health insurance provider.

What you want to document in the Fall History spreadsheet is up to you, but I would recommend that at a minimum you track:

• Date
  
• Where the fall occurred (Office, Traveling, Home)
  
• What happened (Stumble, lost balance, fell backwards, knees buckled, etc.)
  
• Was there an injury
  
• Type of injury
  
• Explanation (A brief comment on what happened)
  

You might also want to track:

• When did it happen (Work or personal time)
  
• Time of day (Morning, afternoon, evening)
  

The two images show the header and summary fields of my spreadsheet.
 

The "Medical Tests History" is another way to capture important information and easily compare results over several years. This spreadsheet is also an excellent tool when reviewing your medical history with doctors, SS-D advocates and disability insurance contacts.

What you capture on this spreadsheet comes off the blood test results. Always ask your doctor for a copy. I would recommend you track:

• Date
  
• Type of test
  
• Normal Range
  
• Actual results
  
• Comments
  

The image below shows the header field along with some of the tests tracked.

Part II of this subject will cover other important information that you should keep in the binder.


 

 

The Natural History of Kennedy's Disease

Dr. Lenore Beitel was on our chat this last Saturday.  A question was asked about whether there was any correlation between the CAG – repeat length (the number of CAGs) and age of onset and progression.  Dr. Beitel responded that there was a study in Japan that was published four years ago that answered this question.  Dr. Beitel was kind enough to send me the link to the transcript and I downloaded it.  When I saved the PDF, I was told I already had that file (Yup, I totally forgot).  Well, I read the article again Sunday and found it worthwhile and in need of sharing with others.
 

The study is titled, “Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.”  Several doctors including Gen Subue performed the study.  There is no cost to read or download the report.
 

Fortunately, this study is well written … meaning I could understand it.  This is the only study that I am aware of that focuses in on what happens and when does it occur.  It is based upon data provided for up to twenty years of a patient’s life.  This study is different than most, because of the number of patients.  So often the patient base is substantially smaller.  I would recommend reading the article if you want to learn more about the onset and progression of Kennedy’s Disease.  Little time is given to the cause of Kennedy’s Disease or current research if that is your interest.  Below, I will summarize what I found interesting.
 

Of the 233 patients, the average age was 55 with a range from 30 to 87.  The average CAG-repeat length (count) was 46.6 with a range from 40 to 57.  The initial muscular weakness perceived was in the lower extremities (70% of the time) even though some patients noticed weakness in two locations at the same time.
 

In my opinion, the key findings in this study were:

1.  The greater the size of the CAG-repeat expansion (CAG count), the earlier the onset.  The study used nine ADL’s (activities of daily living*) for milestones in this study.  The age of onset of these nine ADL milestones were evaluated in the 233 patients.  ADL’s include:

a.       hand tremors

b.      muscular weakness

c.       requiring a handrail to climb stairs

d.      dysarthia (speech issues)

e.      dysphagia (swallowing issues)

f.        use of a cane

g.       use of a wheelchair

h.      pneumonia

i.         death
 

2.  The rate of disease progression was not dependent upon the number of CAG-repeats.  This was very interesting to me.  One you began to see symptoms, the progression appears to be fairly well defined.  (See the next bullet)
 
3.  The researchers commented that the most striking observation was that the CAG-repeat length did not affect the interval periods between the individual ADL milestones.  In other words, the progression of the disease is not influenced by the CAG count.  Once a patient reached one milestone, the length of time to the next milestone was similar to the other patients regardless of the count.  The thought here was that progression from degeneration to cell death might be determined by intrinsic factors such as a “cell death processing system” (I am not certain what this means).
 
4.  The most common cause of death was pneumonia due to aspiration and dysphagia.  Even though these two bulbar symptoms were relatively mild when first manifested, they were serious issues in the later phases of the disease.  I always knew that pneumonia was bad from a personal family experience and from comments of others living with the disease.  This point reemphasizes the need for flu and pneumonia shots as well as constant vigilance in regards to any signs of these health concerns.
 
5.  Creatine kinase (CK) averaged 863 in these patients with a range from 31 to 4955.  A reader asked a CK question recently and all I could comment at that time was based upon personal history.  The normal range for CK is 45 to 245.
    
 6.  Serum testosterone levels were relatively high even with older patients, although the levels did decrease with age.

 

 
Of the key findings, I expected #1, but was surprised about #2 and 3.  These two were probably the most interesting to me.  #4 and 5 were not a surprise, but #6 was unexpected also.  Because of the size of the study group and the consistency in certain results, I believe the information will help many of us living with Kennedy’s Disease to understand the phases of the disease.  In a few weeks, I will read the report again to see what else I can glean from it.
 

* Note:  Certain other symptoms were left out of this study because patients were not always aware of them (or when they started) even though they might be present.  They include muscle cramps, muscle exhaustion, difficulty chewing, fasciculation (muscle twitch), and gyneconmastia (enlarged breasts).

I would be interested in your thoughts after you read the study.  Did you find the report interesting?  Did anything surprise you?  Will the findings change anything in your life? 

Financial Planning – Part III

This is the final article on Financial Planning. Today we begin with establishing an annual target and a long-term goal, and finish up with adjusting the plan, as needed, to achieve your goal … retirement preparedness and peace of mind.

_____________________________
 

The Seven-Step Financial Planning Process (continued) 

3.  Establish a Target and Goal: There is an old business saying, "If you cannot measure it, you cannot manage it." Now that you know how much is needed in retirement savings and over what period of time, creating achievable goals including annual targets becomes important. Goals and targets should be specific, measureable, actionable, reasonable, and time bound. For my wife and I, we focused on saving 15-20% of our income every year (depending upon bonuses, other compensation, and interest/dividends).   

4.  Execute the Plan: Plans are not very good unless you implement them. Develop an action plan with specific steps that need to be taken and the timing to achieve the targets and goals. Steps that are not measured or assessed cannot be managed because there is no objective information to determine its value. Desired performance outcomes must be established for all steps in the plan.  After you and your wife are both comfortable with the plan, execute it

Fortunately, our company offered a 401K program that we max'd out each year. We also max'd out our IRA contributions. We were also able to defer a portion of our income and bonuses. Whatever the shortfall was between our annual savings target after the 401K and IRA contributions, we invested (stocks, bonds and CDs).

5.  Measure Performance: Schedule time each quarter (or at least semi-annually) to review how you are doing in reaching your short-term savings target. If you are not on track, determine what needs to be done to get you back on the right path. 

6.  Review Results: Circumstances change, so it is important that you review your plan annually. Ask yourself how well you did the previous year in regards to your long-term goals and short-term target. Have your expectations (wants and needs) changed because of health concerns, family circumstances, employment considerations, or economic issues? 

7.  Adjust the Plan: This is just as important as the initial planning process. If anything changed or you did not achieve your target for the previous year, you need to revise your plan.

Because the stock market, interest rates, bonuses, salary increases, stock options, etc. are not consistent (or do not always follow your plan), you will most likely have to revise the plan and set a new target every few years. You might also have to change your goal if something catastrophic occurs. If you are ahead of your plan and want to grow your retirement "nest egg" even further, you might decide not to modify the plan. The key is not to take your eye off the goal (i.e., your total needed retirement savings).

As I mentioned in Part I, Social Security-Disability is all well and good, but it does not help answer the question whether you can afford to retire. Financial planning is important at any age, but it becomes critically important when diagnosed with Kennedy's Disease because you might have to retire earlier than expected. 


I realize the planning process and recommendations included in this article might sound difficult to complete, but just take it one step at a time and it will all fall into place. Remember, you can always hire a financial planner to help you with the task. What is important is that you just "Do It!"

 

Other Planning Considerations

1. Short and Long-Term Disability Insurance: If you have not already done so, you need to check with Human Resources to see if something similar is offered through your company. Disability insurance will replace a portion of your lost income when you are no longer able to work.
   
   
   
   
   Although this insurance receives less attention than health insurance, it is equally as important if forced to retire early because of a disability. Wikipedia has a nice article explaining the different types of disability insurance. The monthly premiums were well worth the sacrifice for me. If your company does not offer these type programs, check to see if you can afford to purchase one on the open market. Fortunately, my company offered disability insurance.
   
   
   
2. Document Everything: Once you have your plan and are reviewing it regularly, prepare for the future by documenting everything associated with the disease. This is very important because you tend to forget or misplace things as the months and years pass. All of this information will become important as you begin the application processes for Social Security-Disability and short/long-term disability insurance.
   
   Document everything related to your experiences with Kennedy's Disease including test results and doctor's visits. Ask your doctors for copies of all examinations and tests. Set up a spreadsheet that records all of your falls and injuries (date, at work or home, reason, injuries, etc.). Incorporate all this information into a three ring binder with tabbed sections.
   
   
   
3. When to begin discussions with your company: You do not need to do this right immediately and the timing depends a lot upon your relationship with your manager and human resources (HR). At some point, however, you need to bring them up to date on your situation and request their support.
   

• Regularly evaluate your current work experience (capabilities and concerns) and decide the best time to begin these discussions. Your safety is important to you, your family, and the company.
  
  
• Human Resources will be able to review programs available and, when you are ready, early retirement options. For me, after I made the initial ovation, I found HR and my manager were willing to work with me to help prepare for the future.
   
• Since Kennedy's Disease is a RARE disorder, I found it important to educate my manager and HR as to what to expect. I provided them with articles from the internet concerning symptoms, progression, etc. Just mentioning the health issue will make them begin to ask questions that they will need answers to regarding plans for any future transitions in workload, responsibilities, etc.

• Since they know nothing about Kennedy's Disease, some reassurances will be necessary as to current and future capabilities. Fortunately, Kennedy's Disease does not affect cognitive powers and it is a slowly developing disease. Your positive attitude and assurances that you will keep them apprised of any changes is important.
  

 
Note: I plan to develop a PDF guide on this subject in the future. The guide will be available for download on the KDA website.

_____________________________
 

As always, should you have any questions, please do not hesitate to ask by commenting below or sending me an email.


Okay, now it is your turn. What did I forget? What do you not agree with?  Do you have a better process you can recommend? Any comments and considerations are appreciated. Working together, we can make a difference.

_____________________________
 

Upcoming Article: Check out Sunday's article on the natural history of spinal and bulbar muscular atrophy (SBMA). I will summarize the research report as well as provide a link to a site to download the study if you want to read it.


 

Financial Planning – Part II

This is Part II of a three-part article on Financial Planning. In Sunday's post, I provided a summary of the steps to developing a financial plan. In today's article I will provide a little more detail as to the process that my wife and I went through twenty-five years ago. Unfortunately, the length of this article requires me to break it down into two sections. The final segment (Part III) will be posted Thursday.

_____________________________
 

The Seven-Step Financial Planning Process

When my wife and I realized that my career might be cut short because of Kennedy's Disease, we developed our financial plan using the process shown below. Part II and III are an overview (even though it will not seem that way) of the steps involved. In today's post I will cover Steps 1 – Evaluate and 2 – Analyze.

1. Evaluate: This is the most difficult part of the process, but also the most critical. I recommend developing a retirement plan that includes several scenarios in case plans change (e.g., you work longer or have to retire earlier, you live longer, a recession occurs, etc.). Fortunately, on the internet there are some good tools available to make the process easier and more manageable.
   
   
   
   
   
   • First, make an educated guess as to when you might have to retire (e.g., at age 50, 55, or 60). I guessed 55, but worked until I was 57.
     
   • Next, develop a retirement budget (best guess). We decided what we thought we would need (in annual income) to live comfortably if I had to retire early. This is a difficult task because it is like looking into a crystal ball fifteen or twenty years out. We used current dollar values and then applied a reasonable inflation factor (another best guess) afterwards.
     
     There are some general rules for how much money you will need to live comfortably when you retire. One such rule projects that you will need 70% of your annual pre-retirement income (inflated to future dollars). Based upon your wants (travel, vacation home, etc.) and needs, however, you might need 100%.
     
     
     
     
     
     1. One way to begin estimating your retirement costs is to take a close look at your current expenses, and then estimate how they will change (e.g., will your mortgage be paid off by then, will you be driving as many miles, will your health care costs likely rise, etc.).
     2. Use this retirement calculator to help you with the process. Click on each major category (e.g., housing) and it will take you to a more detailed worksheet. The program will apply a reasonable inflation factor based upon your age and other criteria.
        
        
        
        
        
        
        
        
        
        
     3. In this budgeting process we separated "wants" (e.g., vacations, new cars, second house, fishing boat, etc.) and "needs" (e.g., mortgage, cars, household expenses, auto expenses, food, health and life insurance, other maintenance expenses, etc.) to come up with the minimum needed retirement savings we were both comfortable with. Having both my wife and I work the numbers helped us reach an agreement on lifestyle expectations.
        
        Any amount over the minimum required savings can be applied towards additional "wants". On the other hand, if you find that you cannot save enough before retirement, you might have to reduce some "wants" and "needs" (e.g., keep the cars longer, downsize house, etc.), or, increase your potential returns by making riskier investments in your portfolio (I do not recommend this), or by moving out your retirement date.
        
        
   • Make some projections as to life expectancy for your wife and yourself (e.g., 75, 80, 85, or 90 years old). Currently, the range for Americans is 77.5 to 80 years old. There is a good (but a more detailed) life expectancy calculator on the MSN.com website. I said 80 for me and 90 for my wife.
     
   • Now, estimate the interest rate factor for the scenarios (another educated guess). We ran three scenarios using different rates (4, 6, and 8%). We also assumed that as costs increased, so would my salary, interest and dividends. However, we never assumed that health insurance costs would increase at the rate it recently has. In the end, our annual inflation rate averaged 4.7%. The retirement calculator link in "b" above will assign an inflation factor and you can use that as a starting point.
     
   • Capturing all this data becomes difficult if you do not use a spreadsheet. It is almost imperative that you use one when putting together multiple what-if scenarios.  Except for a few tweaks, I am still using the same spreadsheet today to track our performance. 
     
   
   
2. Analyze: Once you agree upon the budget numbers, review your current savings, investments and expected retirement benefits (e.g., IRAs, pension, Social Security, long-term disability, etc.) and other potential income (e.g., savings, stocks, interest/dividends, etc.). This step will help determine the gap (the shortfall) in savings. You will develop this for each early retirement age stipulated (e.g.50, 55, and 60). This was another daunting task, but we are able to receive some help from the Social Security Administration (current benefits available) and Human Resources (pension estimates). Use the Retirement Income Calculator to help you with this task.
   
   An important factor that needs to be taken into account is "compounding." Compound interest arises when interest is added to the principal, so from that moment on, the interest that has been added also earns interest. The value of compounding interest is shown in the example below.
   
   
   
   
   
   1. You plan to retire in twenty years and you estimate that you will need a million dollars in savings when you retire.
      
   2. You currently have $100,000 saved in your 401K and IRA.
      
   3. However, you will be generating interest on your current savings. If you average 4% annual interest over the twenty years, the $100,000 when compounded has more than doubled in value. Now your gap is actually only $800,000.
      
   4. You estimate that your pension will be worth $200,000 (lump sum benefit). Your gap, in today's dollars, is now less than $600,000.
      
   5. If you put aside an additional $10,000 a year for the next twenty years, you would have over $300,000 saved after applying that same 4% interest rate (compounded). The gap is now only $300,000.
      
   6. You now focus on any other investments (stocks, bonds, CDs, etc.) to further narrow the gap.
      
      
   Even more interesting is what happens after you retire. If you only spend what you make in interest each year, you would never draw down on your retirement savings. For example, if you had a million dollars saved at retirement and it continues to generate 6% interest, you could spend $60,000 a year. Along with your SS-D (e.g., $20,000), you would now have $80,000 (pre-tax) income every year. Again, this is only an example to show what could happen with careful planning.
   
   What if you need $100,000 a year when you retire? After the $20,000 SS-D, you need another $80,000 from retirement savings (8%). If your interest rate averages 6% a year, after twenty years of retirement you will still have $400,000 in savings.
   
   This all sounds wonderful, but realistically your costs after retirement will also continue to escalate (due to inflation). $100,000 in year one will not have the same buying power in year five, ten or twenty. The retirement calculator mentioned above will show you the impact of inflation on your savings over several years. For example, if you need $100,000 in year one; twenty years later the very same expenses could easily inflate to over $225,000.
   
   
   
   
   _____________________________
   
   

That is it for today. Fortunately, the Evaluate and Analyze steps are the most difficult part of developing a viable plan. In Thursday's post, I will conclude the financial planning article by covering: Executing the plan, Monitoring performance, Reviewing performance, and Making needed adjustments to the plan. I will also discuss three other items that need to be worked to ensure you are ready for early retirement.

Financial Planning – Part I: Plan your work and work your plan

Recently a reader recommended that I write about financial planning for families living with Kennedy's Disease. 


I did write about applying for Social Security-Disability (SS-D) compensation last year (Part I and Part II). Both of these articles discussed several important responsibilities and considerations before and during the application process. Along with other tips and recommendations, I emphasized these three points:

• Document everything. The more information you can provide up front, the smoother the process will go.
  
• Take the time to 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 disability.
  
• Be prepared. The more prepared and organized you are, the better the chance for approval. (e.g., my award was approved in six weeks)
  

Part II of the SS-D article focused on the preparation aspect of the process. A few years ago I wrote a guide that is useful when applying for SS-D. You can download the PDF guide by clicking on this link.

_____________________________

The Financial Planning Process

Social Security-Disability is all well and good, but it does not help answer the question whether you can afford to retire. Financial planning is important at any age, but it becomes critically important when diagnosed with Kennedy's Disease because you might have to retire earlier than expected. 


Wikipedia: A financial plan is an estimate of future income, expenses and assets.

In this three-part article, I will provide several key steps to developing a financial plan. In today's post, I will summarize the planning process.


Since I am not an expert or someone with a strong financial background, everything discussed in this article is based upon my experiences (the good, the bad, and the ugly). Of course, you can hire a financial consultant, but I feel that the benefits of going through these steps are important to the "buy-in" process. If you do decide to take this journey, I recommend that you review your assumptions and results with a qualified financial planner. A good financial planner should not ask you to invest in specific stocks, bonds, annuities, insurance, or other securities. His role is to just review your plan and provide insight into options for achieving your goals. 


I am certain there are others out there better informed and more qualified to write about this subject. I am hoping they will add their two cents in the comments section below or by sending me an email. I will then update these documents. 


The keys to any good financial plan are summarized in this seven-step process:

1. Evaluate future needs (Develop a retirement budget)
   
2. Analyze current conditions (Retirement savings, regular savings, pensions, disability income, and other investments and assets)
   
3. Establish targets and goals (Target = Annual projected savings; Goal = Savings needed for early retirement)
   
4. Execute the plan (Develop a plan, gain consensus,and put your plan to work)
   
5. Measure performance (Quarterly reviews - How are you doing?)
   
6. Review results (How well did you do in achieving your annual target?  Are you still on track to achieve your goal?)
7. Adjust the plan, as needed (Evaluate, analyze, reset targets, execute, measure and review the revised plan)

_____________________________

 
In Tuesday and Thursday's posts I will provide the actual steps my wife and I used to prepare for our future. This approach helped us achieve a reasonable level of financial independence and provided me with peace of mind.


As always, should you have any questions, please do not hesitate to ask by commenting below or sending me an email.