Bipartisan Action Offers Rare Disease Patients Hope

A NORD press release today announced the successful results of two years of work by NORD and its membership.  I wrote about the House’s passage a few months ago, and today, after the Senate passage, the bill goes to the President for his signature.  This is a major step forward and will hopefully help those of living with rare disorders. 

The Kennedy’s Disease Association thanks all those that worked so hard to get this bill passed.

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Washington DC-----Millions of Americans who have serious rare diseases and no treatment may face a brighter future as a result of a bill approved today by the U.S. Senate, according to the National Organization for Rare Disorders (NORD).

"We salute the Senate for decisive and bipartisan action in approving the FDA Safety and Innovation Act (S. 3187)," said Peter L. Saltonstall, president and CEO of NORD.  "And we applaud the House of Representatives for approving in a similarly bipartisan manner the House version of this bill last week."

Saltonstall said the legislation, which now goes to President Obama for his signature, provides broad-ranging and innovative measures to speed the development of safe and effective treatments for people who desperately need them.

"Only about 250 of the nearly 7,000 diseases considered rare in the U.S. have therapies," he said.  "But treatments are desperately needed because most rare diseases are serious, many are life-threatening, and about two-thirds of the patients are children."

He added that "NORD and its members have worked long and hard to raise awareness of the challenges of living with rare diseases.  We are grateful for the hard work and thoughtful deliberation that both the House and Senate have brought to this process."

Among others, some features of the bill that Saltonstall said were especially important to NORD and the rare disease patient community include:

• enhancing accelerated patient access to new medical treatments
• encouraging the development of Humanitarian Use Devices, or medical devices for small patient populations
• providing for accelerated development of "breakthrough therapies" -- or ones that show early promise
• enhanced consultation with rare disease medical experts and
• a rare pediatric disease priority review voucher incentive program

The bill approved by the Senate today and the one approved by the House last week are the result of a process that has been underway for nearly two years and for which NORD has provided significant input, the reauthorization of the Prescription Drug User Fee Act (PDUFA). This legislation, which authorizes the Food and Drug Administration (FDA) to collect user fees from companies seeking to have products reviewed, must be reauthorized every five years.

The path of least resistance

Water will always find the path of least resistance.  And, like water, those of us living with Kennedy’s Disease will often allow gravity to get the best of us.  This is especially the case when it comes to our posture.

 

As the disease progresses many of us find it easier to allow the head, for example, to lean forward or the mouth to catch a few flies.  We have to consciously close the mouth or straighten the neck.  Often, many of these posture issues happen without us really realizing it.  But, this unconscious habit can be detrimental to our overall health.  Poor posture examples include:

• As our legs weaken, it is easy to begin leaning forward or to the side when we have something like a wall, counter or walker to support us. 
• Or, when we sit at a table, it becomes natural to put our forearms on the table and allow our head and upper torso to lean forward. 
• Or, when we sit in a recliner we lay back and allow the body to ‘relax’ (head, torso and legs). 

I believe you get the idea. 

The problem with allowing gravity to dictate our posture is that it impacts the symbiosis between our muscles, internal organs and skeleton.  This can lead to other issues including neck or back pain, greater muscle fatigue, an escalation in muscle degeneration.  The picture above shows the additional weight your spine, neck and shoulder muscles have to support with poor posture.

My physical therapist asked me to spend time every day focusing on holding some basic posture positions.  I have included three examples for you to try.

• Stand at Attention:  Stand next to a countertop or some other place that you can grab ahold of if necessary.  Stand at attention … shoulders and arms back, head up, chin tucked in, stomach sucked in, legs slightly wider than the hips.  Stand there for a few minutes focused on holding the posture.  Depending upon your progression, you might notice the leg muscles quivering at first.  If need be, place your fingers on the countertop to steady yourself and remain safe.
• Shift Left and Right:  Once you feel comfortable with the “stand at attention” posture, hold the posture while shifting slowly to the left and then the right.  Shift back and forth for one minute initially.  Increase the time up to five minutes (if comfortable and safe).  This will put more weight on each hip and leg (the quads, ankles, hips … muscles and joints).  For safety purposes, you might find it necessary to place your hand (or hands) on the countertop.  Just don’t lean forward.
• Sit Upright:  Sit in a dining room chair or high-back chair.  Place your feet flat on the floor.  Straighten your back, shoulders and neck.  Push your back into the chair back.  Sit in the chair holding the posture breathing normally for five to fifteen minutes. 

Throughout the day try to catch yourself using poor posture and correct it immediately because it puts extra stress on your neck, shoulders, lower back and legs.  When standing, put weight on both legs and keep your spine straight and keep your neck in line with your shoulders.  And, when sitting, keep the neck, shoulders and back straight.  


Over time, it will become more natural and you will automatically find yourself straightening the spine or correcting your shoulder alignment because it isn't comfortable.  Just correcting your posture a few times a day can improve how you feel and reduce the effect of gravity (stress) on your body.

Unanswered Question … Answered?

A week ago Thursday I was diagnosed with an allergic reaction to something (still unknown). My left palm was flaking skin and my legs and arms were itchy all the time. It had been going on for over a month. My doctor gave me an injection of a steroid to clean up the problem.

On Saturday I noticed a slight weakening in the arms. By Sunday I also had a slight ‘twinching’ (my word for a twisting like feeling that made it feel like the leg was giving out) and an ache in the knees and quads, but the itchiness was gone and the palm was healing. Monday and Wednesday’s workouts were decent, but I continued to notice the same symptoms. By Wednesday I was becoming a little concerned with the change, but the palm was healed and the itchiness did not return. Why was this happening?

A week after the steroid injection my strength returned and the knee and quads no longer had the ‘twinching’ feelings. This was the first time that I associated the steroid injection with the weakening and feelings in my quads and knees. Friday morning my strength was back and the exercise program was again easy.

I could be wrong about the cause, but I find it interesting that I had not experienced any weakness or ‘twinching’ in many months and then thirty hours or so after the injection I felt something change. I need to check with my doctor on this to see what he thinks.

Where are the Kennedy’s Disease Research Updates?

It seems like the number of research updates and papers published has slowed in recent months. I am hoping that the proposals submitted for KDA research grants this summer will bring forward some promising new research. Hope is one thing, but solid research proposals and published papers are especially nice to read once they have been deciphered by our resident biology professor.

The other big event that we (the waiters in the wings) look forward to is the annual KDA Conference and Educational Symposium. The highlight of the conference for most of us is the presentations by the researchers on their current projects. These presentations are nice because it gives the attendees a chance to ask questions and even comment, “I don’t understand.” Then, having the ability to break bread with the researchers gives you some one-on-one time to further discuss their research and also your particular symptoms, issues and concerns.

When the formal conference ends, the researchers go into a half-day closed-door session to share their work with their colleagues. The symposium is really the only time where this many researchers that are focused on Kennedy’s Disease have a chance to spend time together reviewing their projects and sharing information.

I know, I need to BE MORE PATIENT! 

Father’s Day … One very special day

From one father to all of you father’s out there … I wish you …

HAPPY FATHER’S DAY

One of the greatest joys in my life are my children.



I just hung up from a 2½ hour conversation with my daughter in Minnesota. We laughed and occasionally cried … tears of joy.

The previous day I heard from my son who also lives in Minnesota.



Even though we could not be together today, knowing that I am in their thoughts and prayers … and being able to share our memories makes this day extra special.

I am truly blessed.

The wind is underneath its wings again

In March I wrote an article about a Canadian goose with a broken wing. “Never Giving Up Hope” was as much about our being able to cope with living with Kennedy’s Disease as it was about this goose who never gave up trying to fly.

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

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

Over the last three months almost every day I watched this Canadian goose try again and again to fly. I cannot even count the number of times it crashed after five or ten feet of air-time. It always amazed me that no matter how bad the crash, it never gave up.

About a month ago dozens of more geese arrived for their annual molting and breeding visit. We now have over a hundred geese every day on the lake. And, the one with the broken wing is right in the mix. Two weeks ago I noticed that the mangled wing did not look quite as bad because several of the dead feathers were missing. I watched as the goose pulled and eventually yanked out another dead feather. The goose then stretched its wings … flapping until he gently lifted off the ground.



A couple of days later I watched as the giant flock took off for its morning flight. This time, however, the goose with the broken wing wasn’t left behind. It took off running across the dam, lifted off, and flew … and kept flying. I couldn’t believe the thrill that I felt and can’t even imagine what the Canadian was feeling about then.

That goose never gave up. Somehow it knew that it would fly again … and it did. Like the “Little Engine that Could” and the “Ant and the Rubber Tree Plant,” the Canadian overcame its handicap and found a way to soar once again.

Perhaps it was instinctual or maybe it was just luck. In the end, however, it really doesn’t matter. It was a beautiful sight to see and something I never expected. And, once again it gave me hope.

Breathless?

I responded to a question on the KDA Forum this morning and afterward I felt this might be a good topic for a blog article.

A caregiver wrote that her husband’s cough was very weak and asked if there were any good exercises to improve his lung strength. Below is my response expanded to include a few other thoughts.

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A few years ago my neurologist as well as my physical therapist gave me breathing exercises that will help improve lung capacity. I practice them every day and they seem to help me.

1) Sniff: While sitting upright (straight back) breathe through the nose and exhale through the mouth. Take a long and strong sniff. Focus on the sniff breathing into the abdomen (diaphragm) so that you can feel your abdomen expand. Exhale … expelling all of the air using your diaphragm muscle to empty your lungs. Practice this exercise at least once a day for about five minutes. I recommend early in the day because your muscles and mind need the oxygen.

2) Cough: Use the sniff above to fill your lungs and then cough hard trying to expel everything from your lungs at once. Practice this three times a day for about two minutes each time. This is a great exercise that will help bring up phlegm if you get a cold or pneumonia. It is also helpful in clearing out your throat should food become stuck.

3) Exercise: If you are not already exercising, start. Begin with some light aerobic exercises and stretches. Simple stretching and bending routines are excellent and should be incorporated into any exercise program. Easy aerobic exercises like ‘slowly’ lifting the arms and legs several times can be quite beneficial. With each repetition, focus initially on the breathing (deep breaths and exhalations with each movement) until it becomes a natural (comfortable) part of the exercise. Then begin to focus more on the exercises. Each day, preferable at the beginning of the day, exercise. Use the ‘sniff’ and ‘cough’ exercises mentioned above as a part of your morning routine. In the beginning, the length of the program isn't as important as the actual act of exercising. Well oxygenated blood flows into the brain and the muscles. Endorphins also start pumping through your system. What a great way to start each day. For me, exercising every day while breathing deeply probably helps the most.

4) Abdominal Breathing: When in bed, place your hands on your stomach. Spend a few minutes inhaling comfortably through your nose focusing on expanding the stomach (stretching the diaphragm as you fill the lungs with air). When the lungs are full, hold your breath for a few seconds. Slowly exhale the air through your mouth until your lungs feel empty. Breathe this way for five to ten minutes. This exercise is especially good in the evening and will help relax you.

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If anyone else has some good lung exercises, please let me know.

Role Reversal

Definition: A circumstance wherein two people adopt the opposite role of their normal one or switch normal roles.

To me the topic of role reversal is interesting because it happens to all of us living with Kennedy’s Disease. I believe this is one of the most difficult transitions in a person’s life.

Realizing that we occasionally need the help of our caregiver (spouse, significant other, family member, etc.) to perform normal daily routines, it is still difficult to accept. And, when the priorities of the caregiver have to change (especially if we fall and cannot get up without help, for example), we often experience feelings of guilt for being a burden to them.

Where we use to change a light bulb, climb the ladder to clean the gutters, mow the lawn, wash the cars, and perform other household repairs and maintenance, we now have to look to our caregiver to perform the tasks (or hire it done). This is often difficult to accept because it is natural to feel frustrated and less than adequate when we have to ask someone for help.

Even worse is when we attempt something and cannot finish the job without having to ask for help. At times like this I know it is frustrating for my wife because often she has to drop what she is doing to help me finish something that was not a priority for her. And, probably the most difficult part is that I believed I could accomplish the task … by myself … not needing her assistance.

Even if we accept that we have Kennedy’s Disease and that we are less capable, we still find it difficult to ask for help. This is especially true if we believe we are being a pain in the butt to our caregiver.

Yet, the alternatives are somewhat limited and often inconvenient. I believe the key is to recognize the importance of the task and your capabilities; then weigh that against your caregiver’s abilities, available time and her/his current priorities before beginning the project. Then weigh in how safe it is for you try to perform the task. Often, it is better to put it off or hire it done. Of course, this won’t work if you are on the floor and can’t get up.

Dutasteride Update

It seems hard to believe that it has been almost three months since my last dutasteride update. This last quarter has been interesting … and everything continues to be positive.

Exercise Program:

• My long exercise program has averaged 93 minutes this last quarter.
• My short exercise program has averaged 18 minutes.
• I have not missed one day of exercises in three years.
• The exercises seem almost too easy now (especially leg exercises) and I am considering adding more weights and increased reps.

Neck Weakness:

• I have experienced no neck weakness or pain since changing my neck routine (added two new exercises) and changing the angle of my PC monitor.
• Last fall I was very concerned and for the last six months it has not been an issue.

General Comments:

• I have not experienced any up and down days … everything has been steady and quite comfortable.
• I have not experienced any pain.
• Lung capacity continues to be strong.
• Choking or swallowing issues are almost non-existent.
• I have lost a little weight in the abdomen and hip area … probably a couple of pounds.

After almost sixteen months, I continue to feel stronger and healthier than a year ago. I have not seen a decline in strength … and, if anything, I have seen a slight improvement. Needless to say I am a ‘happy camper’.

Knowledge is power

Fortunately for all of us living with a rare medical condition, the internet has become a tremendous resource for seeking answers to our questions.  Unfortunately, not all of the information available on the internet is accurate and it is important to validate what you read.  With quality information at your disposal, you can make more intelligent and less emotional decisions.

Approximately three times a week either the KDA or this blog receives an inquiry concerning Kennedy’s Disease. The subjects most often asked about are:

• Is there a test for Kennedy’s Disease? If so, where can I be tested?
• I am concerned that I am a carrier, is there a test for women that might have the disease?
• I am experiencing the following symptoms. My doctor doesn’t believe it is Kennedy’s Disease, but everything I read points to the disease. Do you think I should see another doctor or demand that I be tested for the disease?
• Do you know a doctor in my area that is familiar with Kennedy’s Disease?
• My husband is really struggling with the disease and refuses to talk about it. Is there anything I can do to help?
• Do you know of others in my area that have Kennedy’s Disease? If so, how can I get in touch with them?
• Can a carrier experience symptoms like a man?

There are times I do not have the answers and have to ask a member of our Scientific Review Board (SRB) for assistance. Ed Meyertholen, our biology professor, and the doctor members of our board are very supportive and have helped many people by answering their more technical and medical questions about the disease. And, every time I contact a member of our SRB, I learn something.

So, keep your questions and comments coming. They are all appreciated.

Counting your blessings in life

I mentioned in previous articles that even though we are living with Kennedy’s Disease, we have so much to be thankful for. Several times a day I thank God for all the blessings in my life. This experience helps me to recognize all that I need to be thankful for in my life.  If nothing else, it helps refocus my mind on what is important and away from the ‘poor me’ syndrome.

The other day I read this post in the Courage to Create blog by Ollin Morales. I have included several parts of the article below plus my own comments occasionally.
 

Exercises To Help You Recognize The Blessings In Your Life

“There is so much blessing and beauty near us that is destined for us, and yet it cannot enter our lives because we are not ready to receive it. The handle is on the inside of the door, only we can open it.”  - John O’ Donahue


Today, I want to give you some more exercises that can help you recognize your many blessings.

1. Turn The Mundane Into A Blessing

Take the most mundane and uninteresting part of your day, and bring it into focus and awareness.
Let’s pretend you are doing this exercise when you are in traffic:
Become very present. Hear the sounds, smell the smells, feel the steering wheel beneath your fingertips. Then, start to look for the blessings around you. Recognize the paved road. The lights, the signposts, the crosswalks—recognize that all these things were specifically designed to keep you safe and out of harms way. How blessed you are that someone put them there for you. Think of all the other drivers: you may notice that the majority of them are trying really hard to drive safely. See how you can take the mundane and recognize it as a blessing?

2. See Nature As A Blessing

Go to a place where you are surrounded by nature. A beach, the mountains, the woods, a park, etc. (your backyard). Spend 15-30 minutes there recognizing the blessing that is nature.

3. Tell Your Loved Ones That They Are A Blessing In Your Life

Recall all the people who have been very kind and helpful to you. Can you take some time today to tell some of these people that they are a blessing in your life? Send an email, call them, or tell them in person. You will be amazed at how much you will transform their day when you tell someone you care about that you consider them a blessing.

4. Meditate On “Overlooked Blessings”

When on a break, think about the fact that there are many blessings in your life you are not currently aware of. Then, take some effort to recognize them. Usually, it doesn’t take more than a few moments before a huge revelation comes across you, and you realize how silly you’ve been for cursing your life, when life has really been very good to you.

5. Recognize That Even When Everything Is Going Wrong You Still Have ONE Blessing Left

If you are in a really difficult spot and you cannot see any blessings in your life, then please focus on your breath and realize that, despite everything, your breath is still a blessing. The fact that you are alive is the greatest blessing of all.

6. Recognize That You Are A Blessing In Someone Else’s Life

Recognize that you are a blessing in someone else’s life. Then, pay attention to the little things they do to make this clear to you. They may not say it to you right out, but a hug, a kiss, a note—something is carrying the message to you that you are a blessing to them. Recognize that they are trying to show you that you are a blessing in their life.

7. Look Within And Discover Your Many “Internal” Blessings

Why lying down in your bed, or in your bathtub, scan every part of your body. Scan every bone, organ, muscle, and tissue, too. Recognize that each part of you is a blessing. Forget what you consider to be your “deformities” or “scars” or “ugly” features (or your weaknesses), and simply focus on their mere existence. After you go through each of your organs, please make sure to take some time to rest on the heart. The ability to feel love is a blessing we all have no matter where we come from. Recognize what a blessing it is to have such a huge range of emotions to experience life with.

8. Recognize Your Five Senses As A Blessing

Take a moment to pay attention to the five senses. Recognize what a blessing it is to be able to see, to hear, to touch, to taste, and to smell. Recognize the blessing of your “intuitive” sense—that gut feeling that some call “the sixth sense.” If you are missing one or more senses, recognize the blessing it is that you still have the others.
  You might want to write down all the blessings you’ve noticed so far so that the blessings stay powerfully entrenched in your mind. (I feel this is very important especially in the beginning of the process)

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If you are not giving thanks each day for all of the blessings in your life, give some of these exercises a try and see if it doesn’t make you feel just a little better about life.