Tuesday, May 31, 2011

How can one disease have so many names?

question in cloud I am often asked where did the name Kennedy’s Disease come from.  Many people, when they first hear Kennedy’s Disease, associate it with some disease  that John F. Kennedy had.

You can imagine the confusion that exists when Kennedy's Disease goes by many names including (many are the same and just arranged or spelled differently):
  • Kennedy's Syndrome
  • Kennedy Disease
  • Spinal Bulbar Muscular Atrophy
  • Spinal and Bulbar Muscular Atrophy
  • X-linked Spinal Bulbar Muscular Atrophy
  • X-linked Spinal and Bulbar Muscular Atrophy
  • Bulbospinal Muscular Atrophy
  • SBMA
And, adding to the confusion, it seems that even researchers and doctors cannot agree on one name for the condition.

To make matters worse, when some people do a little research on symptoms, they often end up with other neuromuscular disorders or motor neuron diseases including Spinal Muscular Atrophy (SMA Type IV – Adult Onset) and Amyotrophic Lateral Sclerosis (ALS).

Further, when they hear or read the word “disease”, people occasionally  associate it with something possibly contagious.

So, Why Kennedy’s Disease?

The condition was named after Dr. William Kennedy of the University of Minnesota who first identified this disease in the United States.  I pulled this from Dictionary.com:
Dr. William Kennedy
William Kennedy

Kennedy, William Robert (born 1927) American neurologist. Kennedy enjoyed a long association with the University of Minnesota's medical center in Minneapolis, rising to rank of professor of neurology. His major area of research was neuromuscular disorders. The neuromuscular disorder that bears his name was described in an article published in 1980 that he coauthored with M. Alter and J. H. Sung.
That being said, it appears Dr. Kennedy was not the first to identify the disorder.  I pulled this from Neurology MedLink:

Historical Note

Although Kennedy disease bears the name of William R Kennedy, the first reports of this disease were likely published by L. T. Kurland, who described an atypical form of lower motor neuron disease in a Japanese family (Kurland 1957). Following the reports by Kurland, Magee provided additional descriptions of patients with X-linked spinobulbar muscular atrophy in the absence of corticospinal tract involvement (Magee 1960). In 1968, Kennedy reported his experience with 2 large families at the Mayo Clinic in Rochester, Minnesota (Kennedy et al 1968). The designation “Kennedy disease” was first introduced into the French literature in 1979 (Schoenen et al 1979). The disease garnered particular interest as the first example of a polyglutamine-repeat disorder, of which there are now several other neurologic examples, including Huntington disease and several of the spinocerebellar ataxias.

Whew!  I am glad I did this research because it is all so much clearer to me. :-)

Sunday, May 29, 2011

Remembering ‘WHY’

Because we have a tendency to forget, I felt that today’s article should be a reminder that Memorial Day is not the official beginning of summer and just another holiday from work.  Yes, I am a veteran so I am biased.  And, no, I am not an idealist that believes that all wars and the deaths associated with them are necessary.


I am a realist, however.  I have visited many of our national cemeteries and seen the price paid by those who served.  Whether the deaths were in the defense of our country or the result of a mandate (a call to arms) by our leadership, these men and women died and deserve to be remembered and honored.

So please, take a moment Monday and remember those who have paid the ultimate price so that we can be together with family and friends enjoying the beginning of summer.  Lest we forget.”


The article below   from Yahoo News was written by Claudine Zap.

The meaning of Memorial Day

Officially, Memorial Day, observed on the last Monday of May  honors the war dead.  The day was originally known as "Decoration Day" because the day was dedicated to the Civil War dead, when mourners would decorate gravesites as a remembrance.
The holiday was first widely observed on May 30, 1868, when 5,000 people helped decorate the gravesites of 20,000 Union and Confederate soldiers buried at Arlington National Cemetery. 
After World War I, the observances were widened to honor the fallen from all American wars--and in 1971, Congress declared Memorial Day a national holiday.
Towns across the country now honor military personnel with services, parades, and fireworks.  A national moment of remembrance takes place at 3 p.m.  At Arlington National Cemetery, headstones are graced with small American flags.

This day is not to be confused with Veterans Day, which is observed on November 11 to honor military veterans, both alive and dead.

Thursday, May 26, 2011

New leg exercises

I added two new leg exercises to my routine Monday.  The one is a combination of two exercises that I currently do, but combined together they add a degree of difficulty.

If you are familiar with my Smart Exercise Guide, one leg exercise (leg lifts) called for you to straighten your leg out in front of you while in a seated position.  Another exercise (knee lifts) has you lifting your knee straight up and holding it while in the seated position.  I combined the two and came up with the following.

New Exercises

Raise and Lift:  While seated, lift the knee up as far as comfortable, straighten the leg out in front, hold the leg straight for a count of five, lower the leg, and then lower the knee back to the starting position.  Now switch to the other leg.
knee-lifts leg-lift

Switch back and forth until you have done 10 repetitions (or as many as comfortable).

Hip Abduction/Adduction:  Sit up straight with your legs in front of you.  Slowly move the legs widely apart, then together again.  Relax.   Repeat 15-20 times to complete one set.
  • Level 2: Perform exercise above using ankle weights. Start with a weight that you can fully lift 15 times with mild to moderate fatigue and no pain. Then increase the number of sets or amount of weight.
Note:  To avoid straining your lower back, use the armrests of a chair for assistance, and tighten your stomach before you lift and separate your legs.

Give these new exercises a try and let me know how it works for you.

My Exercise Program

I continue to add reps to several exercises.  Monday my program lasted almost two hours (115 minutes).  With the new exercise and additional reps I found myself rushing a little near the end of the program because it was taking so long.  I need to find an in between weight as a transition to reduce the number of reps, but still get the same workout.  Yet, I must say that I really enjoy my program especially since I began taking dutasteride.

Tuesday, May 24, 2011

Heroes for my son

Last year I wrote a few articles about heroes in Brad Meltzer’s book, ‘Heroes for my Son’.  I recommended the book because it told stories about people that many of us do not know or only know a little about.

Today’s ‘Hero” from Brad’s book is Lou Gehrig.  The story is called, “Indestructible”.   Us old timers know about Lou as one of the greatest baseball players of all times and also because of the disease that he had … ALS.  Mr. Meltzer told his story this way:

Lou Gehrig - Indestructible

[Despite muscle spasms and broken bones, New York Yankee Lou Gehrig played in 2,130 consecutive games over thirteen seasons. In each of those thirteen seasons, he scored 100 runs and hit 100 RBI. His batting average of .361 in seven World Series brought the Yankees six titles. It took a debilitating and fatal disease to take him off the field, and even then he wasn’t beat.]
For thirteen seasons, Lou Gehrig never missed a single game.  Think of it.  Think of what happens over thirteen years...
He didn’t miss a game when he was sick.  Or when he was tired, or bored, or not feeling right.  Not when he was under the weather, or drained, or just wanted to take a day for himself.
Not when he broke his thumb.  Or his toe.  Or when he suffered the seventeen other healed fractures that they found in just his hand and that they never knew about because he never complained.
For thirteen seasons, for more than two thousand games in a row, Lou Gehrig showed up, because he never wanted to let us down.
The only thing that stopped him?  The fatal disease that once caused his back to spasm so badly, he had to be carried off the field at the end of the ninth inning.

They called Lou Gehrig “the Iron Horse.”  But he wasn’t made of iron.  He was made like us.  He just didn’t let that stop him.
I consider myself the luckiest man on the face of the Earth. And I might have been given a bad break, but I’ve got an awful lot to live for.
[Lou Gehrig, farewell speech, July 4, 1939, Yankee Stadium]
Knowing the way I feel some days and how a few broken bones effected my life, Lou Gehrig’s accomplishments both on and off the field astound me.  He was an Ironman.

Sunday, May 22, 2011

Are the phases of a clinical trial like the phases of the moon?

MDA Advocacy published an interesting article (the link is below) on clinical trials.  In my opinion, it was one of the best articles I have read on the subject.  While reading it, I found that I had several misconceptions about clinical trials.  I printed the article and filed it with my Kennedy’s Disease medical information just in case.

Clinical Trials: What Do You Need to Know?

Clinical trials are research studies in which people help doctors find ways to improve health and care. Studies try to answer scientific questions, and to find better ways to prevent, diagnose or treat disease. Anyone who has participated in a clinical trial that tests a medication or other treatment knows that the protocol is highly regulated.

A clinical trial is a test, in humans, of an experimental treatment. Although it's possible that benefit may be derived from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Therefore, the decision about whether to participate in a clinical trial requires careful consideration. Keep your MDA clinic doctor informed about your clinical trial participation.

A clinical trial is one of the final stages of a long and careful research process. Studies are done to find out whether promising approaches to prevention, diagnosis and treatment are safe and effective.

The different types of clinical trials are:
  • Treatment trials
  • Prevention trials
  • Screening trials
  • Quality-of-life trials.
Here are the different phases of clinical trials:
  • Phase 1 trials. These first studies in people evaluate how a new drug should be given (by mouth, injected into the blood or injected into the muscle), how often it’s given and what dose is safe. A phase 1 trial usually enrolls only a small number of patients, sometimes as few as a dozen.
  • Phase 2 trials. A phase 2 trial continues to test the safety of the drug and begins to evaluate how well the new drug works.
  • Phase 3 trials. These studies test a new drug, a new combination of drugs or a new surgical procedure for comparison to the current standard. A participant will usually be assigned to the standard group or the new group through a process called randomization, which helps ensure an unbiased result. Phase 3 trials often enroll large numbers of people, and may be conducted at many doctors' offices, clinics and centers nationwide.
  • Phase 4 trials. After a treatment has been approved and is on the market, the drug company may study it further in a phase 4 trial. The purpose of phase 4 trials is to evaluate the side effects, risks and benefits of a drug over a longer period of time and in a larger number of people than in phase 3 clinical trials. Thousands of people are often involved in a phase 4 trial.
In a clinical trial, papers must be signed and filed showing that patients have consented to the trial’s procedures, and that they understand the risks. Also, institutional review boards keep a close watch on clinical investigators to make sure everything is in compliance with the regulations. Reports are filed with the U.S. Food and Drug Administration. Then, data and safety monitoring committees are ready to interrupt a trial if there are signs of clinical complications or adverse side effects.

Informed consent is the principal tool through which adults participating in clinical trials are asked to weigh potential risks and benefits. (Parents provide consent for children in trials, although the FDA recommends that children as young as 7 be asked to agree to participation when feasible.)

The FDA, through local institutional review boards (IRBs), oversees informed consent documents and requires that prospective trial participants be told that the study involves an unproven drug or treatment. Participants also must be told what will happen in the study and how long it will last, and that they can leave the study at any time without penalty. Furthermore, study participants must be made aware of any possible risks, discomforts or benefits.

Anyone who is interested in participating in a clinical trial should feel free to ask any questions or bring up any issues concerning the trial at any time. When deciding on participation in a clinical trial, you may wish to consider the following:
  • What is the trial designed to do?
  • What will I/my child be asked to do each visit? Between visits? Each day?
  • Can we adhere to the requirements of the trial for the duration?
  • What is the duration of the trial?
  • Will we get feedback during or after the trial?  What will that include?
  • Are our expectations of the trial realistic?
  • What costs are associated with the trial participation (time, travel, money, etc.)?
  • Does participating in this trial preclude us from participating in anything else during or after this trial? 

Suggested Questions:
The following suggestions from the National Institutes of Health (NIH) may give you some additional ideas as you think about your own questions.
Possible risks and benefits
  • What are my possible short-term benefits?
  • What are my possible long-term benefits?
  • What are my short-term risks, such as side effects?
  • What are my possible long-term risks?
Participation and care
  • What kinds of therapies, procedures and/or tests will I have during the trial?
  • Will they hurt, and if so, for how long?
  • How do the tests in the study compare with those I would have outside of the trial?
  • Will I be able to take my regular medications while in the clinical trial?
  • Where will I receive my medical care?
  • Who will be in charge of my care?
Personal issues
  • How could being in this study affect my daily life?
  • Can I talk to other people in the study?
Cost issues
  • Will I have to pay for any part of the trial, such as tests or the study drug? If so, what will the charges likely be?
  • What is my health insurance likely to cover?
  • Who can help answer any questions from my insurance company or health plan?
  • Will there be any travel or child care costs that I need to consider while I am in the trial?
Tips for asking your doctor about trials

Consider taking a family member or friend for support, and to help you when asking questions. Make a list of questions prior to meeting with your physician, but don't hesitate to ask any new questions that come up during the appointment. And, it also will help to write down the answers, so you can review them whenever you want.

Thursday, May 19, 2011

Expectations and Hopes

For many years I felt that something was terribly wrong with me, but I lived a life of denial believing that if I did not acknowledge it, perhaps it would go away.  Then fifteen years ago my neurologist ran a series of tests and concluded that I had Kennedy’s Disease (Spinal Bulbar Muscular Atrophy).  He recommended that I see a specialist at the University of Pennsylvania … a Dr. Kenneth (Kurt) Fischbeck … and the rest is history.

Fifteen years ago Dr. Fischbeck believed that we should have a treatment in five to ten years.  Unfortunately, research is not an exact science and predictions do not always happen as planned.  Yet, my hope never diminished. 


About a year or so ago reality came a calling.  My  expectations, hopes and prayers for an effective treatment had been tested many times.  Watching my strength wasting away as my muscles withered has taken a toll on me. 


Experience is a great teacher.   And, perhaps wisdom does come with age.  Whatever you want to call it, I realize that a treatment cannot reverse what has happened to my body.  So now I just hope and pray that I can maintain a certain 'quality of life’. 

I have said many times that ‘hope is what we live for’.  If it weren’t for hope and faith life would be much more difficult.  That does not mean that reality cannot enter into the equation and with it a new sense of realism. 


Some of my audience will read into this article more than what I am saying.  Please don’t!  This acknowledgement does not mean that I have given up or I am depressed.  It is nothing more than another form of ‘acceptance’. 

Furthermore, this new level of acceptance has allowed me to focus even more on the words …
“Working together to find a cure …
‘if not’ for our generation,
then for our children and our grandchildren.”

Tuesday, May 17, 2011

More exercises for you and me to try

Today, let’s focus on the neck, shoulders and upper back.  Too many of us with Kennedy’s Disease develop weakness in the neck and shoulders.  For this reason, it is important to continue to work these muscles … stretching and strengthening them.

Note:  These are taken from the Therapy Skill Builders Guide.

I need to post my “Reminder” … just in case you did not read the previous article: 
  • All exercises should be done slowly … do not jerk or force the motion … for maximum effectiveness. 
  • Listen to your body … do not overdo. 
  • As the exercises become easier, add more reps and/or pressure.

A.  Neck Rotation – Look left then right
  • Sit in a chair, keeping your neck, shoulders, and trunk straight.
  • Turn your head slowly to the left as far as comfortable.
  • Hold the position for a count of five.
  • Turn your head slowly to the right as far as comfortable.
  • Hold the position for a count of five.
  • Return your head to the front and relax.
  • Perform ten reps (or as many as comfortable).
  • Note:  If this is too easy, have someone place the palm of their hand on your cheek to create more resistance. 
Neck rotation

B.  Lateral Flexion – Touch your shoulders
  • Sit in a chair, keeping your neck, shoulders, and trunk straight.
  • While continuing to face forward, tilt your head slowly to the left shoulder moving as far as comfortable.  Do not rotate your head while tilting, or raise your shoulder.
  • Hold the position for a count of five.
  • Return your head to the front.
  • While continuing to face forward, tilt your head slowly to the right shoulder moving as far as comfortable.  Do not rotate your head while tilting, or raise your shoulder.
  • Hold the position for a count of five.
  • Return your head to the front and relax.
  • Perform ten reps (or as many as comfortable).
  • Note:  If this is too easy, have someone place the palm of their hand on your cheek to create more resistance.
Touch shoulders

C.  Flexion/Extension – Chest to ceiling
  • Sit in a chair, keeping your neck, shoulders, and trunk straight.
  • Lower your chin slowly to your chest, keeping your mouth closed.
  • Hold the position for a count of five.
  • Now, raise your chin and tilt your head back as far as comfortably possible to look up at the ceiling.
  • Hold the position for a count of five.
  • Return your head to the front and relax.
  • Perform ten reps (or as many as comfortable).
  • Note:  If this is too easy, have someone use the palm of their hand on your forehead when bending forward and the back of the head when trying to look up to create more resistance.

D.  Levator Scapulae – Chin to chest
  • Sit in a chair, keeping your neck and trunk straight.
  • Place your hands behind your head and lock your fingers together.
  • Gently move your chin to your chest, while slowly turning toward the left.
  • Hold the position for a count of ten.
  • Return your head to the front (level).
  • Gently move your chin to your chest, while slowly turning toward the right.
  • Hold the position for a count of ten.
  • Return your head to the front (level).
  • Perform ten reps (or as many as comfortable).

E.  Suboccipitals – Pillow Stretch
  • Lie flat on your back in bed.
  • Place a pillow behind your head.
  • Tuck in your chin and slowly push your head and neck into the pillow as far as comfortable on the left side.
  • Hold the position for a count of ten.
  • Bring your head back to the front.
  • Tuck in your chin and slowly push your head and neck into the pillow as far as comfortable on the right side.
  • Hold the position for a count of ten.
  • Bring your head back to the front.
  • Perform ten reps (or as many as comfortable).

Important:  Before you begin any regular exercise program, please consult with your doctor.

Okay, we now have ten new exercises to try.  Try to perform these every other day for the next couple of weeks and then let me know how they work for you.

Sunday, May 15, 2011

Let’s do some exercises!

As you know, I enjoy exercising.  It is a part of my morning routine.  Some people, however, find it difficult to set aside time to exercise every day.  For these people, I would ask that you consider setting aside time every other day, or third day, to at least try some exercises and see if they provide any benefit to you.

 image The Smart Exercise Guide has a series of exercises to strengthen most of the muscle groups.  The exercises were recommended by a physical therapist.  They can be performed with or without weights and you can choose the number of reps that you feel comfortable doing.

One complaint that I hear regularly concerns the loss of leg and lower back strength.  For those people, there are some exercises in the Therapy Skill Builders Guide that will help strengthen your lower extremities.  I would recommend that you try these exercises three times a week for the next two to three weeks and see how they work for you.

  • All exercises should be done slowly … do not jerk or force the motion … for maximum effectiveness. 
  • Listen to your body … do not overdo. 
  • As the exercises become easier, add more reps or a weight to the ankle.
A.  Hip and Knee Flexion
  • Lie on your back (bed or floor) with your legs out straight and relaxed.
  • Keep your kneecaps pointed toward the ceiling throughout the exercise.
  • Slowly slide the left foot toward your buttocks, bending the knee and hip.
  • Slowly return to the starting position.
  • Perform ten reps (or as many as comfortable) and then switch to the right foot.

B.  Quads – Short Arc
  • Sit on a firm, flat surface with your legs out straight in front and you hands behind you for support.
  • Place a rolled towel under your left knee to bend it about six inches.
  • Raise your foot until the knee is straight.
  • Hold for five seconds, then relax.
  • Perform ten reps (or as many as comfortable) and then switch to the right leg.

C.  Hip Abduction
  • Lie on your back (bed or floor).
  • Keep both legs straight, and your toes pointed toward the ceiling throughout the exercise.
  • Slightly lift and move (swing)  your left leg out to the side as far as comfortable.
  • Slowly return to the starting position and relax.
  • Perform ten reps (or as many as comfortable) and then switch to the right leg.

D.  Dorsiflexion and Plantarfkexion (Ankle and Foot)
  • Sit up straight in a firm chair.
  • Point your left foot up toward your knee and hold for five seconds.
  • Point your foot straight down away from the knee and hold for another five seconds.
  • Perform ten reps (or as many as comfortable) and then switch to the right foot.

E.  Quads – Long Arc
  • Sit on a sturdy surface high enough that your feet do not touch the floor.
  • Grip the sides of the surface for support.
  • Straighten your left leg completely (or as close to straight as comfortable).
  • Slowly return the leg to the starting position and relax.
  • Perform ten reps (or as many as comfortable) and then switch to the right leg.

Important:  Before you begin any regular exercise program, please consult with your doctor.

Thursday, May 12, 2011

Three Month Update on Dustasteride

It is hard to believe that it is three months already since I started taking dutasteride.  Time flies whether you are having fun or not.

I decided to breakdown this report into sections.

  • In this area I have seen the most improvement.
  • My long exercise program has increased 30-40 minutes (100-110 minutes) and I could even go longer.  My short exercise program has increase by 5-10 minutes.  I have not intentionally tried to increase the length of these programs, it just came naturally as a result of the ease of performing each exercise.
  • I have added more weight or reps (or both) to every exercise.  All reps have increased by 25-36% without causing any problems. 
  • My muscles feel different after I exercise … pumped and strong … if that makes sense.
  • I do not feel fatigued afterward.
Other Observations:
  • I just realized the other day I have not had any aches or pain for at least a couple of months.  Living with deep muscle aches became a part of my life for several years.  It sure it nice not having them.
  • I do not seem to have the fluctuations in weakness and energy that I was experiencing.  Only occasionally have I had a down day for energy, but they are nothing like the lows I felt a few months ago.
  • Some basic daily routines that were becoming more difficult are now easy, or at least easier.  This includes lifting dishes or other objects above my head (ex. removing dishes from high kitchen cabinets).
  • I feel much more secure (comfortable) standing.  My knees have not buckled in a long time.  When I stand now, the strength in my  quads give me a sense of confidence.
  • Other people (my dentist for example) are beginning to comment on specific changes they have seen. 
Side Effects:
  • I am eating a little more (more hungry), but that could be do to the increase in my exercise program.  I have not gained any weight, so what I am consuming must be burning up.
  • No other side effects that I am aware of.

Granted, it has only been three months and I do not know what tomorrow will bring, but I am really enjoying this experience right now.

Tuesday, May 10, 2011

What is an “AR” and why is it important?

For several years I struggled with the concept of a mutated gene.  I asked questions like:
  • What was mutated? 
  • Why did it mutate? 
  • Can the mutation be fixed?
  • What does the mutation look like versus a healthy gene?
  • What is binding and folding and why are they important?
Ed, my resident biology professor, was very helpful in explaining the process.  However, I know it still isn’t totally clear to me and probably to others.  For that reason, I did a little more research and found a good resource for a lot of my unanswered questions.  “Genetics Home Reference” is a service of the U.S. National Library of Medicine.  

Below are some excerpts from this service that might be helpful in explaining the Androgen Receptor.

Androgen Receptor 1

1.  What is the normal function of the Androgen Receptor (AR) gene?

The AR gene provides instructions for making a protein called an androgen receptor. Androgens(*) are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body to respond appropriately to these hormones. The receptors are present in many of the body's tissues, where they attach (bind) to androgens. The resulting androgen-receptor complex then binds to DNA and regulates the activity of androgen-responsive genes. By turning the genes on or off as necessary, the androgen receptor helps direct the development of male sexual characteristics. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.

In one region of the AR gene, a DNA segment known as CAG is repeated multiple times. This CAG segment is called a triplet or trinucleotide repeat. In most people, the number of CAG repeats in the AR gene ranges from fewer than 10 to about 36.

Androgen Receptor with KD


2.  How are changes in the AR gene related to Kennedy’s Disease?

Spinal and bulbar muscular atrophy (Kennedy’s Disease) – is caused by mutations in the AR gene that results from an expansion of the CAG trinucleotide repeat in the gene.
  • In people with this disorder, CAG is abnormally repeated from 38 to more than 60 times.
  • Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells.
  • Researchers believe that a fragment of the androgen receptor protein containing the CAG repeats accumulates within these cells and interferes with normal cell functions.
  • This buildup leads to the gradual loss of nerve cells in the brain and spinal cord that control muscle movement.

(*) Androgens are compounds that interact with androgen receptors in target tissues to bring about the effects similar to those of testosterone. Depending on the target tissues, androgenic effects can be on sexual differentiation; male reproductive organs, spermatogenesis; secondary male sex characteristics; libido; development of muscle mass, strength, and power. 


3.  What glossary definitions help with understanding AR?

alopecia ; androgens ; atrophy ; base pair ; benign ; cancer ; cell ; dihydrotestosterone ; DNA ; endometrial ; gene ; hormone ; mutation ; nerve cell ; progression ; prostate ; protein ; puberty ; receptor ; somatic mutation ; syndrome ; testosterone ; tissue ; trinucleotide repeat
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

Sunday, May 8, 2011

What works for you?

Yesterday’s KDA chat room chat was interesting.  Our topic was “What works for you?”  I asked, “What have you found that helps improve your quality of life?”

Safety is Job 1

Some of the items (some big and some small) that have been instrumental in improving the quality of my life are:
  • Jar/bottle openerWithout this little instrument I would be asking my wife for help all the time.
  • Bed pedestals This elevates the bed to a good height for easier exiting.
  • Adjustable height shower stoolI love my showers and they would not be safe without this stool.
  • Removable grab bars for the shower Safety is ‘job #1’ at our house.  And, if you are traveling somewhere, take them with you.
  • Wheelchair’s elevated seatThis helped make life a lot easier. It is easier to stand up and also allows me to be closer to eye-level height when visiting.
  • VMI equipped van I am now safer and freer to travel alone.
  • TalletteI never go anywhere without this because commode heights are way to low.
  • Recliner with elevated seatWithout this I would have to spend a lot more time in my wheelchair.
  • Rechargeable screwdriver and socket set Lightweight, but very handy.  It allows me to still do a lot of repairs and maintenance.
  • Golf cart This allows me to visit neighbors, get outdoors and commune with nature, and take my dog for walks several times a day.
Now it is my turn to ask for you to take a few moments  to let me know, “What have you discovered that makes your quality of life safer and better?”  In other words, “What works for you?

Thursday, May 5, 2011

Remodeling your home to make it more accessible

Remodeling is an option for many of us when our homes are no longer safely accessible or are not designed for individuals with special needs.  In 2004, Quest Magazine published an interesting article on remodeling called, “Staying Put – Remodeling can keep you safe and comfortable in the home you love.”  I would encourage you to check out this article if you ever consider moving or remodeling to better accommodate your needs.  Below are certain excerpts from the article that I found helpful.


The top ten reason for wanting to remodel (a humorous approach):
  1. You are tired of peeing in a cup and bathing with wet wipes.
  2. Grab bars – what a concept.  I wish I had thought of that.
  3. You are home alone.  The blinds are shut, the lights are off, the heat needs adjusting, the TV remote was left on the floor; and you cannot reach any of them.
  4. Your carpeting has enough embedded tracks in it for a railroad.
  5. Who really knows what secrets lurk on the upper level of your home?  You have never seen it.
  6. You cannot remember what the back yard looks like, but they tell you it is nice.
  7. In case of fire, common sense says you need more than one accessible exit from your home.
  8. There’s not enough putty compound in the world to fill the gashes in your hallways and doorways from the wheelchair.
  9. Your seasonal clothes and hobby supplies disappear in the black hole of your attic because you have no accessible storage space.
  10. Water runs down your armpits every time you wash your hands because the sink and counters are too high.

Move or Improve?  That is the question. 
  • People remodel because they love their home or their neighbors or they are close to family and friends.
  • Home improvements are usually a sound investment (up to a point).  For example, a report states that the return rate on a remodeled bathroom is 88%.  The rule of thumb is “don’t spend more than 5% of your home’s value on remodeling any one room.  However, most people with a neuromuscular disease are more concerned about safety and accessibility than resale value.
  • Wheelchair accessible homes are few and far between.  There are not a lot of them out there and normally people do not advertise them as such for concerns that others buyers will not be interested.
Hire Professionals

If you are thinking of building or a major remodel, consult with an expert.  Architects can offer more ideas about design, space and what is available.  Architects interpret your wishes into technical terms for the contractor to follow.


Guidelines for hiring a contractor

Once you are ready, consider these contractor guidelines.
  • Consult with at least three contractors about your plans.  Check their licensing, insurance, and credentials online and with your state’s registrar of contractors and the Better Business Bureau.
  • Get bids and detailed breakdowns of costs and time in writing from all three contractors.  Typically, the mid-range bid is your best bet.
  • Be ware of contractors who supply only out of town references, present tight time pressures or promise completions that seem unrealistic.
  • Pay only in stages.  Never give 100% up front (or even a hefty deposit up front.  Deposits are typically 10%.  Always hold back money based on the stage of completion because it is your only leverage.
  • Both you and the contractor should sign and date a written contract including the work details, materials specified (with substitution requiring a written approval), payments and dates, and the completion date.  Do not sign a completion statement and give the final payment until a full inspection is completed by yourself and a building inspector.
  • Be aware that suppliers and sub-contractors can place a lien against your property.  To protect yourself, add a release of lien clause to your contract or ask for proof of payments by your contractor.
The article goes into a lot of detail about ramps, doorways, lighting, flooring (an excellent section), baths and cabinets.  They also have a section that provides estimates of many remodeling jobs (2004 prices).

We have built ramps and done some minor remodeling, but we are now considering a major remodeling of the master bath to make it more accessible.  This article is becoming more helpful as we move forward with this process.

I would be interested in your comments about making the home more handicap accessible?

Tuesday, May 3, 2011

Identifying new therapies for rare diseases

I feel this press release by NIH was important enough to show in its entirety below.  This type activity can “fast-track” a potential treatment and make it available to the public much quicker than the normal process.  Let’s cross our fingers, folks.


NIH researchers create comprehensive collection of approved drugs to identify new therapies for rare and neglected diseases

Researchers have begun screening the first definitive collection of thousands of approved drugs for clinical use against rare and neglected diseases. They are hunting for additional uses of the drugs hoping to find off-label therapies, for some of the 6,000 rare diseases that afflict 25 million Americans. The effort is coordinated by the National Institutes of Health’s Chemical Genomics Center (NCGC).

"This is a critical step to explore the full potential of these drugs for new applications," said NIH Director Francis S. Collins, M.D., Ph.D. "The hope is that this process may identify some potential new treatments for rare and neglected diseases."

The researchers assembled the collection of approved drugs for screening based on information from the NCGC Pharmaceutical Collection browser at http://tripod.nih.gov/npc. This publicly available, Web-based application described in a paper appearing in the April 27 issue of Science Translational Medicine, provides complete information on the nearly 27,000 active pharmaceutical ingredients including 2,750 small molecule drugs that have been approved by regulatory agencies from the United States, Canada, Europe and Japan, as well as all compounds that have been registered for human clinical trials.

“In order to launch a systematic repurposing effort using NCGC’s drug screening technologies, we needed access to a comprehensive collection of clinically approved drugs,” said Christopher P. Austin, M.D., director of NCGC, which is currently administered by the National Human Genome Research Institute (NHGRI). “Our team took on the monumental task of assembling this collection, making it publicly available and creating a world class resource.”

The NCGC Pharmaceutical Collection (NPC) browser provides users with the ability to explore drugs by name, chemical structure, approval status and indication. Groups interested in developing their own screening collections can leverage the supplier and catalog information provided in the browser. The browser, which is an ongoing effort, also includes entries on investigational drugs. The ultimate goal is to collect all of the more than 7,500 compounds that have been tested in man and which present potential jump-start development of treatments for rare and neglected diseases.

researcher 6

The current focus is on collaborating with disease foundations, industry, and academic investigators with disease-relevant assays to screen against the approved drug collection acquired by NCGC. Any new therapeutic use of an approved drug would require additional studies including clinical trials in that disease, approved by the U.S. Food and Drug Administration. Given the cost and limited quantities of the drugs in the collection, each partnership to screen the NPC will be evaluated based on the quality of each disease-related assay and its scientific merit.

Creating a new drug is expensive. Recouping the investment can be difficult for rare diseases, due to the small number of patients with the disease or, in the case of tropical neglected diseases, the limited ability of patients to pay for treatments. Today, therapies are available for less than 300 rare diseases.

Drugs that receive regulatory approval have been demonstrated to be reasonably safe and effective in the treatment of a specific disease or condition. When such drugs are used in large populations, new benefits or adverse effects can be discovered. Subsequently, the use of approved drugs can be expanded beyond what a drug was originally approved for to treat other health conditions.

Thalidomide is an example of repurposing a drug with serious adverse effects in one condition to treat another disease, according to the authors. In the 1950s, it was used as a sedative and as a treatment for morning sickness during pregnancy. It was later withdrawn because it was found to cause severe birth defects. Thalidomide was then repurposed for use against leprosy, an infectious disease causing skin lesions and multiple myeloma, a cancer of plasma cells, which are a type of white blood cell present in bone marrow.

Based on the drug's new application, the U.S. Food and Drug Administration approved thalidomide for the treatment of leprosy in 1998 and for multiple myeloma patients in 2006.
More recently, a team of NHGRI researchers used a similar approach, examining patient blood samples to see what gene and protein networks were active in a syndrome called periodic childhood fever associated with aphthous stomatitis, pharyngitis and cervical adenitis — or PFAPA. PFAPA causes monthly flare-ups of fever, accompanied by sore throat, swollen glands and mouth lesions.


The researchers detected overactive genes in the patient's immune response, including interleukin-1, a molecule that is important in triggering fever and inflammation. From these data, the researchers hypothesized that anakinra, a drug that prevents interleukin-1 from binding to its receptor, could be therapeutic. They injected anakinra into five children on the second day of their PFAPA fevers and all showed a reduction in fever and inflammatory symptoms within hours.

Another approach that does not require a complete knowledge of a disease or drug mechanism uses high-throughput drug screening technologies that screen drugs for biological activity in cell-based models of disease. Drugs that record an activity are known as hits and can be further studied for their therapeutic potential by researchers in animal models of the disease and eventually in human clinical trials.

NCGC already has screened the approved drug collection against more than 200 cell-based models of disease. In every screen, NCGC characterizes the pharmacology of each compound over a wide range of concentrations using its signature quantitative high-throughput screening approach. All of the data from NCGC screens will be published and made publicly available.

In addition to repurposing drugs, the NCGC plans to screen the collection as part of the Tox21 initiative to better predict and model adverse effects associated with approved drugs. Drug toxicity is one of the primary reasons that approved drugs are removed from the marketplace and the ability to predict toxicity would dramatically improve the efficiency of drug development.

The National Human Genome Research Institute is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its website, www.genome.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Sunday, May 1, 2011

In case of an emergency, have a plan

The tornado that struck our town and barely missed us this week brought to mind the need for having an emergency plan and a backup plan.  I have tackled portions of this subject in several articles, but today’s article will discuss what we have learned this week.


Emergency File

First, however, I recommend that you read the article where I discussed having an “Emergency File.”  Having all your important documents and information in one place can be a timesaver and one resource for most of your information needs.

Emergency Plan - Preparation and Practice

I found that even though we were somewhat prepared, when the time came and we started scrambling, we did not think of everything.  Even though we had about thirty minutes, that is very little time when it comes to thinking about what needs to be done ‘just in case’ your house becomes a victim of Mother Nature.

Emergency Plan

1.  Loss of Services

Over 119,000 homes were without power for almost two days.  Approximately 50,000 homes are still without power today.  It could be another week before everyone’s power is restored.  The entire city is also without drinkable water.  Roads are closed and people are prohibited from entering and occasionally from leaving these areas.

We thought that a couple of gallons of water would be enough for most situations, now we realize that we need that much per person per day.
  • Without electricity, what happens to your cell phones and more importantly, your wheelchair or scooter (if you have one).  They both need charging. 
    • How do you get in touch with family and friends as well as emergency services if your phone runs out of juice?
    • Flashlights and batteries are also needed.  Do you have enough to last several days and possibly up to a week?
    • If you plan ahead and buy a backup emergency generator, can your wife or you hook it up safely when needed?
  • You cannot cook or microwave and your refrigerated/frozen foods do not last long. 
    • Do you have enough ice chests? 
    • Do you have food that does not require cooking? 
    • Do you have enough pet food to take care of your critters?
Emergency - Are your prepared

2.  Evacuation Plan and Backup Plan
  • Should you stay or leave?  When we heard the news of the impending tornado strike, we did not even consider leaving.  With 190 mph winds, we should have been packing up and leaving for someplace safe. 
    • Where should should go?  Do you have family or friends in the area? 
    • What happens if the primary routes are blocked?
    • What do you need to take with you?  For example:  important documents (wills, financial information, etc.), emergency papers, contact information, the computer, medications, pet food and supplies, tallette, etc.
    • Do you have a list of important contacts with their telephone numbers in case you have to evacuate?
    • Where is the nearest evacuation center or shelter?
    • If you are handicapped, what else do you need to take to ease the transition to temporary housing (hotel, shelter, family or friend’s house, etc.)?
3.  Medical Emergencies
  • What if medical services cannot reach you?
    • Do you have a fully stocked first aid kit?
    • Do you have a supply of prescription medications that will last for up to a week?
4.  Practice makes perfect
  • At least annually, conduct a fire drill, a tornado (or hurricane) drill and an evacuation drill.  It is important to have everyone in the family participate. 
    • Do you have a checklist of what to take with you or what to protect (carry into the basement or interior closet, for example)?  Everyone should have their own checklist and responsibilities.
    • How long does it take to fully prepare for the emergency or evacuation?  This will give you a needed minimum timeline to work from.
  • After conducting the drill, sit down with the family and review what went well and what needs to be improved or changed.
Emergency checklist

I could go on, but this is just meant to get you thinking of what needs to be done to fully prepare for an emergency.  What am I forgetting?

Don’t assume anything!