Sunday, January 31, 2010

Lock Jaw

There is an old joke where a patient is sitting in his doctor's office. He explains, "Every time I raise my left arm above my head, I get this shooting pain that flashes through my body." When he asked what he should do about it, the doctor said, "Don't raise your arm."

For several years now, I have this situation where my jawbone will fall out of its socket on the left side. This usually happens when I am eating a bagel or something hard to chew (see the joke above). It does not happen all the time, but often enough to be a concern. I can resolve the problem with a slight push on the jaw ... popping it back into the socket. It is not that painful, just uncomfortable. Well, that is not entirely true. If I have a big yawn, the jaw can pop out of place and that is painful until I push it back into place. I spoke with my neurologist about the problem a few years ago and he said that this situation was not uncommon for someone with Kennedy's Disease.

Recently the same problem has begun to happen at night when I sleep on my left side (again, see the joke above). It does not happen every night, but often enough to be a problem. About a year ago I started doing some jaw exercises in hopes that it will strengthen the jaw muscles. So far, it appears these exercises are helping.

This jaw problem has also become an issue when I see the dentist because I have to hold my mouth open (wider than normal) during the cleaning and examination. Fortunately, I discussed this problem with my dentist and he now uses a plastic brace to hold the mouth open while allowing the jaw muscles to relax.

For years, I had a similar issue with my right hip. It would occasionally pop out of joint for a moment when standing up from a chair. Over time, and with the help of some side-strut exercises, the problem went away. I am hoping that the same will happen to my jaw problem.

I realize that it would have been easier to give up bagels, only sleep on my right side, and avoid the dentist, but then I would not have anything to write about.

Friday, January 29, 2010

We are snowed in

Yes, it's true and we live in the "sunbelt." For the next 24 hours, the forecast is for more snow, rain, sleet, and ice. Temperatures are supposed to drop to the mid-teens and remain cold until Sunday. It is pretty (looking out my office window) and as long as we do not have a power failure, do not run out of food (just kidding), or do not have a medical emergency, we should be okay.

I often comment about how wonderful it is to live in the woods on the ridge above a lake. We are more than a football field off the end of the road and up another hill. If cars cannot make it up the hill on the main road to our house, we do not even consider trying to get out. It is a small price to pay for the joy of living here in God's country.

At times like this I once again realize that even if I had to get out for some reason, I couldn't. Walking on snow-covered ice is just not something I can do anymore. My brother-in-law, a schoolteacher, had a difficult time getting home this afternoon. He also lives on a hill. He had to park his truck at the bottom of the hill and walk up.

A couple of neighbors who live on the lake called and asked if we were okay. I said no and begged them to bring up some food … knowing that no one is making it up this hill. Fred, my beagle, and I made it out for three walks today before the snow began to stick to the roads. My rear-wheel, light weight, golf cart just does not do well on any slick surface. We probably will not get out again until Sunday if the forecast is correct.

This weather would not even be a concern in Minnesota. Yet, the local stations are telling people to "not go out unless it is an emergency." Schools closed for the entire day or closed early, and the DOT started spraying salty brine on the roads beginning early this morning. The local stations have replaced normal programming with constant weather updates and film of how bad conditions are in the area. They are comparing this storm to the blizzard of '93 (one of the worst in history).

Fortunately, I have a good book and excellent company (my wife, Fred, and our two cats). What more could you ask for?

Thursday, January 28, 2010

Random Thoughts for Thursday, January 28

Once again, it is "random thoughts" Thursday. I hope you do not mind me rambling on about a couple of topics.

KDA Conference

The Kennedy's Disease Association conference and educational symposium will be held in San Diego this year. The dates for the conference are November 10, 11 and 12. This year's conference should be especially interesting with two potential clinical trials in the wind as well as a potential exercise trial.

The conference offers those living with Kennedy's Disease to interact with each other in both a professional and social environment. It is also a time to renew old friendships as well as make new ones. Fortunately, the doctors and researchers are as interested in attending the conference as we are. Several researchers have commented that this is an excellent forum for them to meet with and learn from those of us with Kennedy's Disease. It is also an excellent opportunity for researchers who are focused on Kennedy's Disease to share their research as well as discuss their concepts with other professionals during the closed session.

Conference planning and the logistics during the meetings are a lot of work. Once again, we are fortunate enough to have several board members and volunteers that are willing to roll up their sleeves and spend the countless hours needed to make the meetings a success.

Feeling Grateful

When something as terrible as the disaster in Haiti occurs, it is always reminder of how fortunate I am. Our safety and health are factors that many of us take for granted until something terrible happens. Then, when something occurs on the magnitude of this recent disaster or something happens to a family member or friend, I once again realize that life is fragile and precious, and at any moment lives can be changed … possibly forever.

My entire adult life I have been aware of the blessings of my being born and raised in the United States. This became especially evident during my Vietnam tours as well as my visits to other Southeastern Asian countries and Mexico. We, meaning many Americans, take so much for granted. If we are sick or injured, we have a good healthcare system in place. When a disaster strikes, we have resources available to support the needs of the individuals involved. I know that some of you might question and argue how good our system works, but I will tell you that in comparison to most countries, it works pretty well.

I am most amazed at how people handle adversity of the magnitude caused by an earthquake or flood. I cannot imagine losing my home, family members, friends, all my possessions, our savings, as well as not having access to items necessary for our survival (clean water, food, medicine, etc.). No one expects that his or her life is going to be changed and challenged to the extent shown to us recently in Haiti. It once again shows how strong (True Grit) most people are inside.

Maslow's Theory of Motivation (Pyramid of Hierarchy of Needs) always seems to come to mind when a disaster happens. Many of us were introduced to the theory in high school and college

"The basis of Maslow's motivation theory is that human beings are motivated by unsatisfied needs, and that certain lower factors need to be satisfied before higher needs can be satisfied. According to Maslow, there are general types of needs (physiological, survival, safety, love, and esteem) that must be satisfied before a person can act unselfishly. He called these needs "deficiency needs." As long as we are motivated to satisfy these cravings, we are moving towards growth, toward self-actualization. Satisfying needs is healthy, while preventing gratification makes us sick or act evilly."

If survival items such as water, food, and sleep are not available to us, we will do almost anything to satisfy this basic need. Further, we will not think of anything else until these needs are satisfied. I personally tend to lump medical attention and concern for family into this survival mode. After these basic needs are satisfied, people will then focus on safety considerations including having a roof over our heads, medical attention, employment, money, and savings.

"Though Maslow's hierarchy makes sense intuitively, little evidence supports its strict hierarchy. Actually, recent research challenges the order that the needs are imposed by Maslow's pyramid. As an example, in some cultures, social needs are placed more fundamentally than any others. … Additionally, little evidence suggests that people satisfy exclusively one motivating need at a time, other than situations where needs conflict."

The people in Haiti are in the survival mode right now. All I can say is, WOW!

Tuesday, January 26, 2010

Genetic Counseling Helps to Answer Many Tough Questions

There are so many misconceptions regarding spinal bulbar muscular atrophy, aka Kennedy's Disease. At least a couple of times a month I receive emails asking about who can be passed the gene or if my father has the disease, or can I be a carrier, or if I am a carrier, does this mean my children will also have the defective gene. Because of all the different, but similar questions asked, I feel the need for genetic counseling is almost as important as seeing a neurologist.

Recently I was asked what would be the odds of having both a husband and wife with the defective gene. When I responded that it is possible, but highly unlikely, the person asked another question about how the 50% rule of passing along a defective gene is determined. I pulled the following from the Kennedy's Disease Association web site to use as a starting point:

"Are you wondering if your children are or will be affected by this Disease? Since the defective gene is in the "X" chromosome, if the mother is the only carrier of the defective gene: there is a 50 % chance of passing the affected gene on to male children (in which they would develop symptoms in adulthood). The chance of passing the defective gene on to female children is also 50 % (in which case they would be carriers of the gene, but usually do not ever develop any severe symptoms).

If the father is the only carrier of the defective gene, your chances of passing the defective gene to a male child are 0 %. However, it is 100 % certain that you would pass this gene on to your female child, and she will be a carrier."

The 50% rule is not a perfect one out of every two rule

Since there is no internal monitor within the genes that keeps track of whether a defective or normal "X" chromosome was used when an egg was fertilized, researchers and counselors use averages in determining percentages. Out of a hundred cases reported, for example, you could have one case where every child is passed the defective gene. In another case, perhaps only one child is passed the gene. As you average out the number over 100 cases, however, it nears 50%.

Another example using coins might explain it better. A coin comes up either heads or tails when flipped (50-50 chance). If you have 100 people flipping a coin not every person flipping the coin will have a heads one time and a tails the next. Some might have three heads come up in a row before a tail. Conversely, another might have four or five tails come up before a heads. However, when you average out all of the heads and tails that come up for the 100 people, it should be close to 50% for each.

Using my family, for example, where my mother was a carrier three out of seven boys have the defect (43%). Out of three girls, none has the defective gene (0%). For our family, three defective "X" chromosomes (30%) and seven normal "X" chromosomes were passed to the ten children. And, as many times as I heard that all the males in someone's family have the defective chromosome, I also heard as many stories that only one male has it. In poker terms, it could be called the "luck of the draw."

Was it Adam or Eve?

Reference another question that I am often asked; I do not think anyone knows what actually caused the first defect in the gene and when or where it happened. It is very difficult to trace the lineage of the disorder since for many years Kennedy's Disease had been misdiagnosed. It was not until the 1960s that Dr. William R. Kennedy first named the disease. And, all the way to the 1990s it was still commonly misdiagnosed (most often as ALS). Once a simple DNA blood test was discovered, early detection and correct diagnosis has improved substantially.

Many qualified genetic counselors are familiar with Kennedy's Disease. If you feel there is Kennedy's Disease in your family, I would recommend talking with a counselor. They can help answer your questions regarding how the defective gene is passed through a family. They are also there to discuss the benefits and possible ramifications of having children tested. The National Institute of Health (NIH), for example, has genetic counselors on their staff that are fully versed in Kennedy's Disease. Use these services to help you better understand Kennedy's Disease and the impact it might have on your family.

Saturday, January 23, 2010

A good landing, but now what?

Many years ago when my son was ten or eleven, I took him up flying with me. Once we were flying level, I asked him if he wanted to take over the controls. At first, he was nervous, but with all of his skills at Nintendo, he flew the plane pretty well. Since he could not see over the dash, he learned how to fly by instrument (IFR) rather than visual flight rules (VFR). The instruments in a Cessna are nicely displayed, so he had no trouble comprehending what it took to fly level, maintain an altitude and air speed, and make safe turns. When I brought the plane in for a landing, there was a stiff side-wind and I bounced the plane off the runway before putting it down. As we walked towards the hanger, I mentioned what a terrible landing that was. He looked up and smiled, then surprised me by commenting, "You know what they say, dad, there is no such thing as a bad landing if you can walk away from the plane afterwards." I thought about that for a second and then we both had a good laugh.

Through the years of living with Kennedy's Disease, I have had many landings (kissing the ground after a fall). After most of these falls (good landings), I could fortunately get up and walk away afterwards. In recent years, however, I found myself in a different situation. Even if I did have a good landing, I found that I could not get up without some kind of help (the "now what" portion of the title). A couple of years ago, I was standing at the workbench in the garage repairing a birdhouse when I made a quick turn to pick up a tool (I know, I was not using my head again). My legs responded like rubber poles when too much weight is put on them. One leg went one way and the other just buckled. Most anyone with Kennedy's Disease understands that feeling when you lose your balance and know you are going down (everything seems to slow down). Fortunately, I plopped down (uncontrolled fall) into the back end of my golf cart. I only felt relief for a moment, before I said, "Now what," because I was wedged into the back end of a golf cart that was only twelve inches high.

I have always felt that men with Kennedy's Disease had an uncommonly good sense of how to use leverage. For example, when on the ground, we are usually able to stick our butt up in the air while inching our legs underneath us (into kind of an inverted 'V' shape). Then, we use our arms to crawl backwards to put more weight on the legs. Finally, we put our hands on our knees and push up. It looks awkward and takes a few minutes, but most of the time it works. A similar position is required to stand up from a low chair. I have to lean over my legs putting almost all of my weight out in front before using my arms to push myself up straight. If the thighs are close to a 90-degree angle to the lower legs, I probably will not make it up. Today, at my age and level of strength, this process works best for me if my thighs are at a 110-to-120-degree angle.

I suppose I should finish the story that I started earlier. By slowly twisting around in the cart and using my head as one leverage point on the back frame, then spreading my legs to an inverted 'V' position as the second and third points, I found that by using my arms, I could slowly raise myself up to a locked-knee position. Afterwards, I thought, "WHEW, now I have another story that I do not need to tell my wife."

As I learn to live with Kennedy's Disease, I am often reminded of C. S. Lewis's quote. "Experience is a brutal teacher, but you learn. My God, do you learn."

Thursday, January 21, 2010

Power Wheelchairs and Medicare – Part II

In the last post, I discussed Medicare and their process of determining necessity. In today's post, I want to discuss wheelchair groups, as defined by Medicare, as well as potential Medicare benefits. In doing so, please remember that requirements and benefits can change and that I might have misinterpreted some of the information. Always check with your wheelchair supplier and Medicare before making any decisions.

Power Wheelchair Pricing

Powered wheelchairs, like most medical equipment, have a substantial markup. Often, with diligent shopping, you can find or negotiate a price substantially lower than the amount quoted by the supplier. The cost for a new power wheelchair can run anywhere from a $1,000 to upwards of $20-30,000 depending upon the make, model, capabilities, and accessories. Besides price, a major issue to consider is what would be the price of having the chair serviced if you do not buy it through a local supplier that provides in-home service. When working with a supplier and using Medicare's benefits, I recommend negotiating a price that provides the least out-of-pocket costs for you, but still offers an incentive for the supplier to provide excellent after-sale service (maintenance and repair).

Wheelchair Groups

Currently there are seven groups. Groups 4, 5 and 6 will not be discussed in this post since they are more specialized and the requirements and benefits are substantially different. Group 1 chairs will also not be discussed since these type chairs normally do not meet the needs of someone with Kennedy's Disease. My focus for this post will be on Groups 2 and 3 because most of us with Kennedy's Disease will have a need for these type chairs. You will soon see that Group 2 requirements and restrictions are substantially less than Group 3's. Within each group, there are several sub-groups, but I do not intend to go down to that level in this post.

Group 2 – Power Wheelchair – To be eligible for this type chair, you will need a Certificate of Medical Necessity (CMD) signed by your physician. You must also meet the basic criteria for a Group 2 chair as well as have an evaluation performed by a physical (PT) or occupational therapist (OT), or a physician with specific training in this area. If additional power options are required (tilt, ventilator, alternate drive control, etc.), than you must meet the additional criteria set out for these options. In Group 2, there are normal and heavy duty chairs for those patients that weigh over 300 pounds. Medicare benefits range, depending upon the power options required, normally from approximately $4,000 to $4,550. Under most circumstances, you will be required to pay for twenty-percent (20%) of Medicare's allowable amount cost.

Group 3 – Power Wheelchair – The criteria for a Group 3 chair is reserved for the severely impaired. Diseases included in this category include Amyotrophic Lateral Sclerosis (ALS), spinal cord injuries, stroke (CVA), late stage Parkinson's Disease, Multiple Sclerosis, Muscular Dystrophy, etc. Patients with diabetes related disorders including peripheral neuropathy are not eligible for Group 3 chairs because it is considered a symptom rather than a primary neurological condition.

The eligibility criteria (other than specified above) are also stricter and require additional evaluation. You will still need to have a physical or occupational therapist evaluation (someone qualified to evaluate Group 3 needs). Note: Your physical or occupational therapist must not have any financial relationship with the wheelchair supplier. If additional power options are required (power tilt or recline, ventilator, alternate drive control, etc.), than you must meet the additional criteria set out for these options. In addition, a Certificate of Medical Necessity (CMD) is required to be signed by a specialist (your neurologist, for example) rather than a general practice (GP) doctor. A home assessment is also required for this group. Furthermore, your mobility limitation must be due to a neurological condition, myopathy or congenital skeletal deformity. The wheelchair supplier must employ RESNA-certified Assistive Technology Professionals (ATP) who specialize in these type chairs.

Since Group 3 chairs are a little more sophisticated, seating, backrest, tilt, recline and other options are normally designed to fit the person the chair is being ordered for. A Seating Specialist (PT or OT) is encouraged because they are more familiar with the types of chairs and options available to fulfill your specific needs. Medicare benefits range, depending upon the power options required, normally from $5,170 to $5,570. Under most circumstances, you will be required to pay for twenty-percent (20%) of Medicare's allowable amount cost.

Important: Power lift seating is not covered under Medicare benefits. Helping a person to more easily transfer or stand is not considered a medical necessity. The cost for power seat lifts can run from $1,100 to $2,700.

Do you have Supplemental Health Insurance? If you are on Medicare, you might have secondary coverage that will also assist in paying for the chair. Always check with your health insurance provider for available coverage and any additional requirements.

Tuesday, January 19, 2010

Power Wheelchairs and Medicare – Part I

Not on Medicare? If you are in the market for a chair and are not on Medicare, check with your health insurance provider to determine their requirements before purchasing a chair. Alternatively, you can also find good new and used chairs on the Internet or in your local newspaper, often at a substantially reduced price. Before buying a chair, however, make certain you have someone in your area that can service it. Do not just decide that any local dealer or supplier will service a wheelchair. Call the dealer or supplier, explain your situation and your plans to purchase a new or used chair and determine if they will service it or offer you a chair for a similar cost.
Power Wheelchairs - there is so much to know and understand about them especially when it comes to using Medicare to help purchase a chair. I have been educating myself with the help of the internet and my wheelchair provider. I thought it might be good to share some of what I discovered in case you are ever in the market for one.

When talking "wheelchair-ees," it is important to understand how Medicare determines if there is a need for and whether the product selected will fulfill that need.
  • Basic Requirements for Medicare Eligibility
In Home Use Only: Medicare helps pay for a wheelchair if it is needed for "in home use." Any needs outside the home are not considered. Mobility is not, by itself, considered a medical necessity. Medicare will only assist you with the purchase of a wheelchair if it helps you accomplish any daily living activity. A wheelchair needs to enhance your ability to perform basic activities in the home. If you can somehow manage to stumble or crawl to the kitchen or bathroom, then, by Medicare's definition, you do not need a wheelchair. If you need a wheelchair to go to the supermarket or drugstore, for example, that, in Medicare's definition, also does not qualify you for support in purchasing a wheelchair.

Certificate of Medical Necessity (CMN): This form must be completed by your physician before Medicare will even consider helping you purchase a chair. The form contains information regarding your disability, the type of chair needed, and the medical justification for the chair. Before a wheelchair provider (dealer) can apply for benefits from Medicare, they must have a signed copy of the CMN. If anything is left out or if any information or dates are incorrect, Medicare will deny the claim.

Medical Record: Your medical record must contain sufficient information and documentation of your medical condition that substantiates the need for a wheelchair. The information required includes your diagnosis, duration of your condition for which the chair is needed (how long), your prognosis, the nature and extent of your limitations, other therapies provided including the results of these therapies, and any other devices (i.e., cane or walker) tried before and the results of using these items.

Even if you have complied with all the information stipulated above, Medicare might still ask for more information or further documentation to make certain it meets the Medicare guidelines. Any mistakes made on the forms including wrong dates or missing information could result in a denial of the claim.

Medically Necessary: The terms "medically necessary" or "unnecessary" are normally used in responses from Medicare when they approve or deny funding for a chair. Medicare, based upon the information submitted and their policies and guidelines, decides if a wheelchair is medically needed and if it will meet the needs of the intended user. You or your doctor's determination that a chair would make life easier or makes you more independent or functional normally does not matter.
  • Wheelchair Supplier or Dealer
The supplier is the one that collects all of this information, makes certain the forms are filled out correctly and signed, makes an initial determination that you meet the Medicare guidelines, and submits the information to Medicare for processing. Once again, any mistakes could result in the claim being denied.

Advance Determination of Medicare Coverage (ADMC): Most often, the supplier will submit the information to Medicare prior to ordering a chair to determine if you are eligible and how much Medicare's benefit will be. Medicare has thirty-days to respond to an ADMC. Even if Medicare initially accepts the information, that does not mean they will honor the commitment once the final paperwork is submitted. Medicare could decide that more information is required, or that changes in your condition no longer warrant the chair ordered, or they could state the benefit is less than originally projected. Once again, Medicare only considers those activities and functions that would take place in your home. 
  • Durable Medical Equipment Regional Carrier (DMERC)
    Medicare has set up four regional offices across the country to process any benefit claims. Each DMERC has responsibility for processing claims within a specific region. DMERC's are not government or Medicare offices. They are contracted, private sector, companies that manage these programs. Medicare issues guidelines and policies, and it is up to the regional DMERC to follow and administer the program. The DMERC's have the final say on whether you will receive a Medicare benefit and the benefit amount.

    In my next post, I will discuss wheelchair groups and potential benefits.

    Sunday, January 17, 2010

    More than you want to know – A Guest Post

    Today's article is a guest post from John C., a good friend of mine and another person living with Kennedy's Disease. John is also a board member of the Kennedy's Disease Association (KDA) so we have the opportunity to interact regularly (probably a little too often to his liking). John is someone that I can call any time just to shoot-the-breeze, solicit support, or to get his opinion/advice on something (in short, he is a good listener). He has a way of always making me laugh, and for that, I am most appreciative.

    Over the years, John has published a series of articles on the KDA web site that were often quite humorous and also educational. The post below is an excerpt from one of these articles. I hope you enjoy it.

    More than you want to know (September, 2005)

    I had been thinking about all of the conversations that I have been a part of during these last four years about the disability filing process both for a private company as well as with the Social Security Administration, and have always come up with the same answer for myself: I just am not ready to turn that switch on in my head that says I'm disabled. Not that I am any better than anyone else; just that I have always enjoyed work, and I still do, but I have filed the papers as I am unable to continue at the same work.

    I have fallen at times and not been able to get up, both with clients and also alone, almost anywhere you can imagine. So far I've been lucky: only one broken foot but many sprains & strains; with the pain & swelling that would have left three weeks earlier if only I had broken the ankle. I have worn the same boots now for three weeks because the ankle swelling won't go down to the point of letting me get back into my shoes. The cell phone didn't work there on the floor and I was there in the lobby of that office building for four minutes before someone came by and helped me up with the "wedgie lift". That's the next thing that I'll patent: it will attach onto the back portion of your belt and be fully functional: the next fashion statement for me.

    The fall could have happened between cars in a remote area of a parking lot and not inside of a building. I really thought I had broken the ankle since I couldn't move from the corner where I landed and I couldn't even turn around. Stuck there like a sack of sand. As the falls have happened with increasing frequency these last three years, it's time to use the head and not the body. That will be a real challenge!

    The transition from being physically active in the workplace to being only mentally active (yes, I hear you all laughing) will be/is somewhat easier than I anticipated. Subconsciously I realized that the transition had started weeks before the Holiday Season began this winter. One Saturday in December I proudly proclaimed that "today I am going to change two light bulbs" and immediately thought of all those ethnic jokes of years past about how many did it take to do this or that: now I'm really the joke. Good thing my sense of humor is somewhat intact. I only could get to one of them: my son John finished the task and opened a can of beer for me. Those cans are harder to open than ever: I can't do it without a penknife, which is also harder to open too.

    Today's Tips

    A few little known facts might help us all; there are 65 million of us who are 65 or older, and ½ of them will fall down within the next 12 months. Those of us with Kennedy's Disease will fall a little more often. Here's how to lessen your chances of a fall:

    • Put non-skid treads in the bathtub and on wooden stairs
    • Add a second stair rail on the other side of the steps
    • Put up grab bars in the bathroom where they will help you, not where someone else says: don't use the TP holder as a grab bar
    • Use higher wattage light bulbs at top & bottom of stairs
    • Throw away throw rugs
    • Lower the height of closet poles and shelves
    • Stop using a step stool: if you can't reach it, have someone move it for you

    Friday, January 15, 2010

    It is time to take a stand

    Two important letters were sent this week to the House and Senate committees working on the healthcare bill.

    The first letter requests an end to the two-year waiting period for Medicare. I feel the two-year wait is ridiculous. If you are eligible for Social Security-Disability, you should also be eligible for Medicare since you can no longer work. One of the key requests in the letter that is signed by over one hundred advocacy groups is … if the two-year wait has to remain in effect, than affordable health insurance should be made available to these people.

    "As you work to reconcile the House and Senate legislation, we urge you to make sure that people with disabilities in the waiting period have access to health insurance that provides affordable medical care. Two important characteristics of people with disabilities in the waiting period should inform your efforts:
    • Two-thirds of people in the waiting period live below 200 percent of the federal poverty level;
    • Over half of people in the waiting period are over 50 years old.
    … we urge you to bear in mind the needs of a particularly vulnerable group of your constituents -- people with disabilities in the two-year wait for Medicare -- and ensure that the coverage they will receive under the final bill allows affordable access to the medical care they need."

    The other letter requests the end of the annual and lifetime caps in healthcare insurance coverage. Currently, the Senate's version of the healthcare bill still allows for these caps. NORD (The National Organization for Rare Disorders) was one of sixty-three advocacy groups supporting the request. Caps, annual or lifetime, can be reached quite easily if a family has a rare or chronic disease.

    "This is a critical issue for patients with rare diseases, as it should be for all patients," said Peter L. Saltonstall, NORD's president and CEO.  "As the House and Senate negotiate health care reform, we must keep in mind the central focus, to create medical security. Capping insurance payments, either on an annual or lifetime basis, can lead to substantial limits on medical care for patients." Saltonstall said NORD often hears from patients who are worried about being unable to afford their treatment or impoverishing their families if they should lose health benefits as a result of reaching a cap.

    … sent a letter this week to Senate Majority Leader Harry Reid (D-NV) and House Speaker Nancy Pelosi (D-CA) urging elimination of all annual and lifetime insurance caps.  Advocacy groups also sent a letter to President Obama. Many private insurance plans include annual or lifetime caps.  Typical lifetime caps are in the range of $1 million or $2 million -- a figure that can be reached relatively quickly by people with rare, chronic, or catastrophic diseases."

    I suppose some of you are asking why I am including this information in my blog today. It is because I support both of these requests. If you are a person living with Kennedy's Disease, you should also care. I would urge you to write your senators and representatives asking for their support of these two important issues. If you need the contact information for your representatives, follow the following links below.

    Thursday, January 14, 2010

    Random Thoughts for January 14

    Weather Update: After almost two weeks of below freezing temperatures, it was 47 degrees yesterday. It was so warm I went out on the back deck, took my shirt off, and caught some rays (just kidding). Today the high is predicted to be 54. Yes, 54 degrees … do you believe it? The result is that Fred and I are really enjoying our walks again and my body is enjoying the warmth from the sun. (You are not hearing any complaints about the weather from me)

    KDA Tissue Donation Program: Over the last few days I spent some time updating our tissue donation guide. It had been four years since the document was reviewed and several changes and updates were needed. After the update is approved, I will publish it on the KDA web site.

    The major change in the rewrite of the guide had to do with emphasizing the need for preplanning (preparation prior to the passing of the individual). For the process to work correctly and to minimize any potential delays, certain items need to be completed early in the planning process. The rewrite emphasizes the need to locate a pathologist or medical center near your home that can perform the procedure.

    Having human tissue samples available for Kennedy's Disease research is important when researchers are ready to transition from fruit fly and mouse model testing to a clinical trial. Testing the proposed drug using tissue samples is an effective first step in that transition.

    Wheelchair Replacement: Well, we are getting close to making a decision. I have been reviewing models, options, and pricing the last few weeks. I have a conference call scheduled for today to review the pros and cons of the chairs and perhaps make a decision. My 'rep' believes the Permobil C300 is a good alternative to the C500. It appears that the major difference between the two units is the base unit. For some reason, I am a little hesitant to downgrade to the 300, because I have not personally tried that model. On the other hand, Bob, another person living with Kennedy's Disease, currently uses the 300 and really likes it.

    Tuesday, January 12, 2010

    Sometimes all we need is a helping hand

    I believe that most people are generally good and want to be helpful. I can recount many experiences where someone came to my rescue. Most often, a family member, neighbor, or friend was there to help me out. However, what impresses me the most is the stranger that helps and then wanders off never to be seen again. I can just say, Thank You, and hope he or she understands how important their help was to me at that moment.

    I had two experiences, however, where I needed help and a person or persons ignored me. I am sure these two stories are not unique and that others living with Kennedy's Disease have had similar experiences. Fortunately, there are many more positive stories and in these two cases, someone was there to help.

    Philadelphia Airport: Everyone knows how hectic flying can be especially on a Friday afternoon. Everyone is anxious to get home and any delays just make matters worse. I was flying back from Atlanta around 5:00 PM on a Friday. When we arrived at the terminal, I was the second person in line when the flight attendant opened the hatch. I noticed that the jet-way floor was about four inches lower than the hatch. I slowed and reached out to each side to lower myself down when I was nudged from behind. My foot was almost on the jet-way ramp when it happened and the contact caused my knee to buckle. I went down and my overcoat and briefcase went flying. I rolled over just in time to see a mass of people stepping out of the plane. The horde never slowed down as they stepped around or over me heading up the ramp. I knew it would take me a couple of minutes to regain my strength so I crawled over to the side and tried to gather my possessions. People continued to flood out of the plane and most everyone saw me sitting there, but no one bothered to stop and ask if I needed assistance. After five minutes or so (and dozens of people passing me), a man stepped off the plane and made eye contact with me. He asked if I needed a hand. When I said yes, he yelled back to the flight attendant at the door to hold the people back a moment. He then reached down and helped me up. The flight attendant then came out and walked with me up the ramp to make certain I was fine. I will never forget how thoughtful the man was and he will never know how much I appreciated him taking the time to help.

    Montreal Hotel: I was on a business trip in Canada. I had a busy day where I toured a couple of warehouses (miles of walking and many stairs) and visited a few customers. That evening we had a seven-course customer appreciation dinner at a five-star hotel downtown (not to be named except to say that it had something to do with British Royalty). It was a cold day and I was fatigued that afternoon (my legs were a little wobbly). I pulled up in front of the hotel's main entrance, gave my keys to the parking attendant, and grabbed my bags. As I walked over to the revolving door, I noticed two steps that needed navigating in order to enter the hotel. The way I was feeling at the time, those two steps looked like a mountain. There was a finely dressed bellman right inside the door and I tried to get his attention without any success. I was already cold, so I tried to step up while leaning forward to grab the door handle hoping to use it as leverage. Halfway through the motion, my knee just would not hold me up and I went down. In the fall, I wrenched my knee causing a shooting pain through the leg. Sitting on the first step, I found I was too fatigued to get up, so I slid over to the side to rest. Meanwhile, the finely dressed bellman just stood inside and watched me. The only thing I could conclude was that he must have felt I was drunk or something. Fortunately, after only a few minutes a man stepped out of the hotel and saw me sitting on the steps (I was hard to miss). He asked if I needed assistance and when I said yes, he raised his hand to signal the bellman. The bellman almost flew out the door to help. The two lifted me up and helped me inside. As I put weight on the leg, the man noticed I was limping badly and asked if the bellman should call a doctor. I said I was okay now that I was standing and thanked him for his help. They helped me to a chair so I could rest for several minutes before trying to register. Before stepping away, the bellman mentioned that if I needed his help, I should not hesitate to ask.

    For the two men mentioned above that were there for me when I needed some help, I again want to say,

    Sunday, January 10, 2010

    Delaying Motor Neuron Disease

    I found this short article today and thought my readers might also find it interesting.  It does a good job of explaining Kennedy's Disease as well as the research currently underway to determine if IGF-1 is a viable treatment.  Click on the title below to go to the article.

    Delaying Motor Neurone Disease

    By blocking the production of a faulty protein in mice, researchers have delayed the onset of motor neurone disease, improved mobility, and extended life-span.
    Motor neurone diseases affect the cells that control movement. Most types are 'sporadic', but some are genetic. Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is genetic. It is caused by a mutation on the X-chromosome so the disease only fully affects males. Previous research showed that SBMA is caused by a mutation in the androgen receptor. The mutation produces a faulty protein, which accumulates in the body causing damage to the motor neurons and leading to muscle weakness and wasting.

    In the past the team proved that Akt (a cell signalling protein) is able to increase clearance of the faulty protein. In this study they found that insulin-like growth factor 1 (IGF-1) activates the protein in the test tube. To see if the same was true in animals, they bred SBMA mice that expressed high levels of the growth factor in their skeletal muscles. The mice showed increased clearance of the faulty protein and therefore reduced accumulation in the tissue. Importantly these mice also had better mobility, put on weight and lived longer.

    For a disease that is currently untreatable, this is a step forward in understanding how it affects the body at molecular level and how it may be treated.

    Caregivers need caring for, too

    Rosalyn Carter said, "There are only four kinds of people in the world – those who have been caregivers, those who are currently caregivers, those who will be caregivers and those who will need caregivers."  Who are caregivers? They are spouses, family, friends, neighbors, and occasionally contracted service providers (including in-home providers, nurses and therapists). 

    Caregivers usually do not receive a lot of appreciation. Often caregivers, after giving and giving, day after day, end up needing to be cared for themselves. They not only feel the weight of the world on their shoulders for the person they are caring for, but they also have to care for their own needs and the needs of the other family members. Stress can build up in the caregiver (especially when there is a serious health issue) to a point where he/she cannot take it anymore. Depression is very common among caregivers. When this happens, it is usually the result of feeling that everything is their responsibility and the caregiver has nowhere to turn for help or mental and emotional support.

    I have mentioned in a few of my posts that I am not always the easiest person to live with (for some people that know me, this might be hard to believe). I also mentioned that at times, I feel "mothered" or even "smothered" because I still need to feel a certain level of independence. This is not the fault of my wife. It is just my perception of what is taking place and my over-reaction to the situation. To put it bluntly, my wife is a saint for putting up with me. Fortunately, she understands and accepts (puts up with) many of my shortcomings.

    For those of us that are fortunate enough to have a caregiver, we need to understand that the caregiver needs caring for, too. Unless contracted, caregivers almost never get a vacation or have time to just relax and pamper themselves. It is usually a 24-hour a day, seven days a week job. Moreover, most caregivers did not buy into their current role and responsibilities. For that reason alone, they need your emotional support, your understanding when things do not quite go as planned, and, most importantly, your love.

    Have you hugged your caregiver today?


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

    1. Caregiving is a job and respite is your earned right. Reward yourself with respite breaks often.

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

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

    4. Educate yourself about your loved one's condition and how to communicate effectively with doctors.

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

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

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

    8. Grieve for your losses, and then allow yourself to dream new dreams.

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

    10. Stand up for your rights as a caregiver.

    Thursday, January 7, 2010

    Embarrassing Moments – Slipping Away Unnoticed

    Earlier I wrote about what happened to me at a customer dinner party. The story below happened a few years later, but also involved work. At the time, I had only told my boss that I had Kennedy's Disease. I was still going through the internal battle of not wanting to admit to anyone that I had a disability, but also finding it more difficult to function in a normal work environment. I had to compensate regularly for my inabilities to perform basic physical actions.

    Annual Sales Meeting: Our top managers and sales force were at the PGA golf course in Miami for meetings. We were staying in villas situated around the golf course. To get to our meetings, we had to hop aboard shuttle buses that ran every half-hour. Unfortunately, the buses had a fifteen-inch initial step. For three days, I had left early in the morning to avoid having others see me struggle to step up and step down from the bus. By the end of the meetings, I was pretty worn down from all the standing, steps, and walking. That afternoon, when I was dropped off at my villa, my left knee buckled, but fortunately I was able to hold myself up. Since we had a dinner and closing ceremony that evening outdoors by the pool, I knew I needed to do something before I fell. As soon as I arrived in my room, I called the resort's customer service desk and asked about a handicap accessible bus. The manager said that one could be made available as long as I gave the desk a half-hour notice.

    A handicapped accessible van picked me up early that evening and dropped me off by the pool before anyone else was there (so far the plan was working well). When the program was almost over, I excused myself and walked to the clubhouse. I called and requested the handicap van pick me up "at the clubhouse." They said it would be there in fifteen to twenty minutes. At the appointed time, I stood outside the front doors of the clubhouse waiting for my ride. Within five minutes the van drove by (that's right, it didn't even slow down) and headed down to the pool where the dinner was finishing up. I walked as fast as I could down the road after the van waving my arms in the air hoping that the driver would look in his rearview mirror.

    The van stopped about fifty yards ahead of me and the driver immediately stepped out. I yelled, but could not get his attention. The driver walked up to several dinner tables and talked with the people there. Everyone at the tables started looking around. I continued to move as fast as I could towards the driver, but I was not fast enough. One of our managers walked up to the microphone and announced, "Bruce, the handicap van you requested is in the south parking lot." Now everyone was looking around wondering where I was and why I needed a handicap van.

    Once again, no harm was done except for the damage to my already bruised ego.

    Tuesday, January 5, 2010

    Desperation – No we are not quite there yet

    Thoreau said, "Most men lead lives of quiet desperation and go to the grave with the song still in them."

    The dictionary defines "desperation" as a state of mind in which all hope is lost. "Desperate," on the other hand, is defined as a person who is frightened and in need of help.

    It seems that two or three times a month I will receive an email from someone in the world asking for information on a treatment for Kennedy's Disease. Many reference some announcement the Kennedy's Disease Association (KDA) made that made them believe some breakthrough had been found. Perhaps there was too much optimism in the wording of a research update. Whatever the reason for their belief, I, unfortunately, have to respond to these inquiries with the standard, "Currently there is no treatment or cure."

    Many of the emails come from family or friends of the person with Kennedy's Disease. Occasionally, a doctor, writing on behalf of his patient, will ask for further information on a treatment. I realize how frustrating it must be for the family when they learn there is currently nothing available to help ease their loved one's condition. Most often, the person with the disease is elderly and showing advanced symptoms. It always seems that the older the person is, the more desperate the appeal. In responding to these inquiries, I do not want the person writing to abandon all hope that a treatment will never be found. In almost every reply, I mention an upcoming clinical trial or some researcher report referencing advancements towards finding that treatment.

    What keeps me going (and somewhat optimistic) are the researchers who work tirelessly to find a treatment or cure for Kennedy's Disease. In several earlier posts, I profiled several younger researchers (the Glimmers of Hope series). We have a saying in the Kennedy's Disease Association (KDA), "Working together to find a cure; for this generation, and for our children and grandchildren." These researchers provide all of us living with Kennedy's Disease a glimmer of hope that someday they will find that treatment.

    My brother passed away several years ago due to complications after breaking a leg in a fall. His wish was to have tissue samples donated for Kennedy's Disease research. I was thankful that my brother, as well as his family, considered the potential benefits that his tissue might provide Kennedy's Disease researchers. These samples have been used over the last several years to help researchers better understand how the disease affects the muscle cells and motor neurons in a person in an advanced stage of Kennedy's Disease. I hope that this act of kindness by my brother and his family might help researchers find the critical puzzle piece that finally opens the door to finding a treatment.

    In some ways, many of us living with Kennedy's Disease lead lives of quiet desperation. What is important, however, is that we have not given up hope.

    Sunday, January 3, 2010

    I hate being a wimp!

    Yesterday it was 20 degrees with a 15 mph north wind. The high was 36. This morning, it is 16 degrees with the high forecast for 32. All this coming week the lows are to be in the mid to high teens with daily highs in the low to mid thirties. I thought we moved to the "Sun Belt?"

    As you have gathered from earlier posts, cold weather no longer agrees with me. Actually, it is the wind as much as the cold that is a problem. Gusting north winds makes being outdoors miserable. We live on a ridge overlooking a valley that is several miles long (running
    north-to-south). The valley becomes a wind tunnel when the north winds blow. Often, the gusts will reach 25+ mph. I blame the Yankees (no, not the baseball team) for these gusts. They want to share their misery with all of us who live in the "Sun Belt."

    Instead of my five one-half hour walks with Fred, I have been only taking him out four times a day. When it is this cold, however, we are down to two or three walks a day. By the time I return from our walks my left thumb no longer works at all and my fingers do not function very well either. It is difficult to unhook the top button on your jeans without a working thumb. Moreover, it is almost impossible to button a shirt or hold a glass of water in my left hand for about an hour after returning from a walk. Yes, I use "hot hands' inserted in my choppers. Even although they help, they do not do enough good when the temperatures are this cold. To make matters worse, my legs do not work very well either after these outings.

    I asked my wife if she wanted to take Fred for a walk this morning. Even though I was only kidding (maybe not), she declined. Some people, including my wife, have commented that I should not take Fred out when it is this cold. In my opinion, that is not the answer. How do I explain to my best friend (BFF) that I think it is too cold to go for a walk? He knows it is cold, but he likes his walks because his olfactory system starts working overtime. The beagle is second only to the bloodhound in its capabilities to follow a scent. When the ground is cold, and especially if there is a frost, Fred goes crazy. If we did not go for walks, I would be depriving him of one of his true joys in life (the other is eating). This morning, as soon as Fred ate, he jumped into the golf cart and was ready to go. When I told him we had to wait until it warmed up a little, he jumped down, nudged my legs with his front paws, and then jumped back into the cart. Talk about putting a guilt trip for me!

    Yes, I know I was born and raised in Minnesota and up there these conditions would be considered spring-like. And, yes, I use to hunt, camp, ice skate, ski and fish in temperatures far worse than this. None of that matters today. I AM A WIMP and I do not like it one bit.

    In keeping with my promise to "see the good in all things," I have found something favorable with this situation. In about sixty days, the average temperature will be in the 50's and 60's again. I just need to start a "short-timers" calendar and begin crossing off the days. Before I know it, Fred and I will be frolicking in spring-like temperatures again. Until the weather warms up, I will have to put up with these temperatures. I am not going to say another word about the cold (not complain …right, let's see if I can keep that promise).

    I will sign off for now. We will talk again soon (it is hard telling how long that will be because my fingers need to thaw out first),

    The WIMP