Thursday, July 28, 2011

Rare Disorders - Raising public awareness

A special insert in the Washington Post this week highlighted rare diseases, the need for more treatments, and the challenges of having a rare disease.  Below are two of several good articles that appeared in the Post.  If you want to see the entire insert, send the KDA an email ( and I will forward you the PDF document.


According  to the National  Institutes  of  Health  (NIH),  there  are nearly  7,000 diseases defined as rare, or affecting  fewer than  200,000  Americans by U.S. definition.  

Somebody  you  know  has one  of  these  diseases,  and  the patients and families coping with them  need  our  help.  They  live with  day-to-day  challenges  that are  vastly  underserved  at  this time  by  our  medical  and  public health systems. 

This results in shattered dreams,  unnecessary  expense,  lost  productivity,  and  all  too  often,  premature death.


What are the challenges?


Even  though  each  disease  is unique, the problems associated with having a rare disease tend to be consistent. They include:
  • Delayed or inaccurate diagnosis
  • Difficulty finding a medical expert
  • Too little research
  • Few, if any, treatment options
  • Insurance  or  other  reimbursement problems
  • Lack of awareness and understanding of the patient’s needs
  • A sense of isolation.
Rare  diseases  are  often  called  “orphans”  because  they  are  forgotten  and  “unclaimed.”  Many  rare  diseases  are  not  being  studied  by  any  researchers  because  there  is  little  or  no  public  funding  for research.

In  fact,  much  of  the  research on  rare  diseases  today  is  being funded  by  patients,  families, and  patient  organizations  raising money through golf tournaments,  bake  sales,  and  other  means  to provide grants for researchers at universities and hospitals.

Seek Treatment


Only  about  200  rare  diseases  currently  have  treatments  approved  by  the U.S. Food and Drug Administration (FDA). That leaves many patients  and  their  families  in  the  position  of being treated with products not specifically approved for their disease or  not being treated at all. 

Furthermore,  more  than  half  of  the patients are children. The organization  I  represent—the  National  Organization  for  Rare  Disorders  (NORD)—receives phone calls and  emails on a daily basis from parents  who are coping simultaneously with  the  challenges  of  having  a  desperately sick child, appealing insurance denials, finding appropriate medical  care,  and  educating  their  families  and   friends  about  their child’s disease.  It’s  a  lot  to  deal  with,  and  no  one should have to do it alone.

Just by becoming more aware of  rare diseases and the needs of the  children and adults who have them,  you  can  help.  The  word  “rare”  is  misleading.  These  diseases  touch  lives all around us, and as a society  we need to pay more attention.  It  could  be  your  son  or  daughter,  or  your  elderly  parent,  who  is  affected. 

If we all focus a little more  on these issues, we could improve millions  of  lives,  reduce  unnecessary  healthcare  spending,  and  put meaning  in  the  phrase:  Alone  we  are rare. Together we are strong.
Peter  L .  Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)



Mothers lead the way in researching rare disorders


Few  medical   conditions a re as difficult  to  diagnose  as  rare  disorders. Many patients wait seven to  10  years  before  receiving  a correct  diagnosis,  and  when  the disease is finally given a name, 
the  person  behind  that  diagnosis  is  often  a  mom.  Why? 

  • First, 80  percent of all rare disorders including  cystic  fibrosis,  childhood  cancers,  and  numerous unnamed  diseases  are  diagnosed  during  early  childhood. 
  • Second,  physicians  receive  little medical training in rare disorders and  can  spend  an  entire  career without  ever  encountering  one. 
  • Third,  and  most  importantly,  is the strength of a mother’s instinct  to  protect  her  young  –  she  is  literally  fighting  for  her  children’s lives.  Empowered  by  the  inter-net, these mothers research and network  with  unmatched  skill.
“The  Internet  gives  patients  and  caregivers  access  to  medical journals , clinical trial investigators,  advocacy  organizations and  government  officials.”  Additionally, mothers employ the  use of social media for sharing news,  experiences  and  resources.

“Having support and encouragement  right  at  their  fingertips  can transform  a  family’s  solo  ordeal into  a  shared  journey;  stripping away  feelings  of  isolation  and bolstering  their  faith  and  determination.”  A  simple  click  of  a  mouse  can  make  a  world of difference. 

Wendy White 
Founder and President, Siren Interactive

Tuesday, July 26, 2011

Just let him be a kid!

The KDA Forum is a good resource for asking questions, expressing opinions, and finding answers.  This week a mother, who is a carrier, posted a question concerning her one year old son who might have the defective gene.

She wanted to know whether she should be taking her son to a doctor familiar with Kennedy’s Disease to make certain she is doing the right thing as a parent to ensure the best care for him as he grows up.

Well, if you know me, you know I have an opinion about most everything.  That doesn’t always mean I am right, but I will at least give you my thoughts. 

My response:

“If there is a benefit in having KD it is that onset will not begin until adulthood. It could even be late onset ... 40s, 50s or 60s. 

A genetics counselor can be helpful in answering your questions. Please, if you really feel the need to know, first discuss timing and needs with the counselor first.

For what it is worth, I believe you should wait. What difference will knowing have in how you raise your child? Testosterone is the enemy and it will be many years before that kicks into high gear. Once it has started flowing, it still will not make a difference unless ... again, unless ... there is a treatment or cure. 

Allow me to share a personal story. My son at the age of two was diagnosed with a malignant brain tumor. He had surgery to remove as much of the tumor as possible without causing further damage. He then had 33 massive cobalt treatments. As parents, we were crushed and all we could see was a child that had a huge horseshoe shaped incision on the side of his head and stitches that looked like Frankenstein's monster. Don't get me wrong, he was beautiful to us, but he had been through so much and we were so concerned that they did not get all the tumor.

When we visited the surgeon for a post-op follow-up (and by the way, we were fortunate to have one of the top ten brain surgeons at the time), I asked how we should treat our son. Should we put a football helmet on him in case he fell and hit his head? What happens if he raises up from the floor and smacks his head against the coffee table? We had a bunch of concerns (as most any parent would).

The surgeon smiled and said, "You will do your child a terrible injustice if you do not let him be a kid. He needs to run, fall, run some more, play, get hurt, and do all the other things a kid his age would do. Just let him be a kid!

let him be a kid

Our son was pronounced cancer free five years later. He is now 41. Some of the best memories were the times we let him be a kid.

I hope this story helps.” 

What are your thoughts?

There are a lot of parents who are reading this article.  It would be great if you would share your thoughts on this subject.  I am just one person and my wife will tell you that I am wrong more times than I am right.  Unfortunately, she is right once again.

Sunday, July 24, 2011

Send A Message to President Obama and Congress

Note:  This is a special post.  My regular article titled "Taking Charge of your Health" was posted earlier today and can be found by following this link:

Times are difficult and everyone is trying to save their ‘pet programs’ from federal budget cuts.  The Kennedy’s Disease Association is a member of the National Organization for Rare Disorders (NORD).  It is an organization whose goals include increasing awareness and to provide greater research funding for rare disorders including Kennedy’s Disease.

The following email was sent to the KDA this week.  NORD is sponsoring this program and asking for everyone’s involvement.  I would ask that you consider sending an email to our President and Congressional Leaders.  It took less than a two minutes to send my email of support asking to save this program. 


Send A Message to President Obama

and Congress Through NORD's Website

Federal budget cuts have been proposed to Medicare reimbursement for drugs and biologics as part of a compromise to raise the debt ceiling.  One proposal under consideration is to move orphan products from Medicare Part B coverage to Part D.  This shift from a 20% co-pay to co-insurance that could go as high as 33% will place a devastating financial burden on some patients and their families who are dependent on lifesaving orphan drugs and biologics.
NORD urges our members to join us in opposing cuts to Medicare reimbursement that reclassify orphan drugs from Part B to Part D.  A letter from NORD President and CEO Peter L. Saltonstall has been submitted to all members of the U.S. Congress.
You can personalize this letter with your own message and submit it to President Obama and all members of Congress through the NORD website.  It takes just a few minutes, and we encourage all our members to do this.

Thank you for your consideration.

Taking charge of your health

In December of last year I wrote an article stating that each of us should become a medical advocate for our own health.


This week I stumbled upon two TED - “Ideas worth sharing” videos  that do a fine job of explaining how to do this and how the medical industry can help.

The first 16 minute video is a personal story about how a person with terminal cancer became an advocate and an e-patient.

Dave deBronkart: Meet e-Patient Dave

When Dave deBronkart learned he had a rare and terminal cancer, he turned to a group of fellow patients online -- and found the medical treatment that saved his life. Now he calls on all patients to talk with one another, know their own health data, and make health care better one e-Patient at a time.

The second 16 minute video explains how medical information should be designed and distributed in a way that anyone can understand it and know what to do because of it.

Thomas Goetz: It's time to redesign medical data

Your medical chart: it's hard to access, impossible to read -- and full of information that could make you healthier if you just knew how to use it. Thomas Goetz looks at medical data, making a bold call to redesign it and get more insight from it.

In this second video, Mr. Goetz says you should ask four questions when you visit your doctor.


Every Patient Should Ask

      1. Can I have a copy of my results?
      2. What does this mean?
      3. What are my options?
      4. What next?

advocate cartoon

I found the examples used in the presentation enlightening.  If my personal medical information was provided in this way, it would be so much easier to understand:
  • What the warning signals are
  • What my current condition is
  • What I can do about it. 
I also loved the comment that many doctors probably don’t totally understand what some of the blood test results actually mean without doing some additional research.

Fortunately, I find my doctor to be receptive to my inquiries.  He provides a good explanations of what is happening.  And, he suggests a course of action, but leaves the decision up to me.

Are you ready to become your own advocate?

The first step, of course, is to decide that you are going to:
  • learn more about your health issues/concerns
  • ask more questions
  • understand what you are being told
    • and, if you don’t, probe more until you do eventually understand
You owe it to yourself to become your own medical advocate.  And, you need to be part of the decision-making process when it comes to your own health.

It is never to late to become the

“educated patient”


P.S.  On a totally different subject, take eight minutes and watch this amazing demonstration of a robotic bird.  It is amazing.

A robot that flies like a bird

Plenty of robots can fly -- but none can fly like a real bird. That is, until Markus Fischer and his team at Festo built SmartBird, a large, lightweight robot, modeled on a seagull, that flies by flapping its wings.

Thursday, July 21, 2011

Everyone needs it at some time in their lives

Mental and Emotional Support … Yup, unless you are made of stone, there comes a time when you need it.


I feel fortunate to be a part of the KDA.  The mental and emotional support I have been given over the last ten years has been fantastic.  The KDA Chat Room and Forum are two vehicles that have helped me developed friends around the world.  We all have one thing in common:  Kennedy’s Disease.

Support groups are difficult to set up initially.  If it had not been for the tireless efforts of Susanne and Terry Waite, the KDA would have fallen apart within the first few years.  It takes a special kind of person to withstand the emotional highs and lows of setting up and maintaining a support group.  The reward?  Today, the KDA touches the lives of thousands of people.

giving-1I have heard from several people in the United Kingdom and Australia this month that are looking for support a support group in their area.   

Support Networks

I have written about support networks in the past.  I feel they are easier to set up and in many cases more beneficial.  A network does not take away from the need for a support group, but it is the foundation of a healthy life when living with Kennedy’s Disease. 

Back in September of 2009, I commented:

“The person with the defective gene is not the only one that has to learn to accept this health condition. The rest of the family is also intimately involved in this same learning process. Everyone in the family at some points needs to be able to say, "It's okay, I can live with this." Children will quickly sense your stress, fears and discomfort. They need to be able to discuss this health issue openly with you and understand how it might affect their lives. 

By openly sharing this information, it helps release some of the fears and questions that the rest of the family might be harboring, but is afraid to voice.”


And then in October of 2009, I discussed how to set up your own support network.  The key is to:
“… surround yourself with positive people.

Having close friends and family that you can talk with and count on can make all the difference in how you approach and live with Kennedy's Disease. Building these relationships takes time and effort. The rewards, however, make it all worthwhile. 

A support network is different from a support group in two key areas.
  1. A support network is made up of family members and friends; people who know and care about you at a personal level.
  2. Support networks are very informal (casual) rather than a structured program scheduled on a particular day and time. You can call a family member or friend anytime just to chat, to schedule a lunch with them, or to meet somewhere. The talks are informal allowing both parties to share their thoughts and concerns. You are there for each other.”
In that same article I discussed several tips to developing and maintaining mutually rewarding relationships (i.e., a support network):

“Developing a strong support network just does not happen. It requires a little bit of work on your part. Relationships are a two-way street. You have to be a good friend to have good friends.
Here are several pointers from the May Clinic article on how to develop strong relationships.
  1. Stay in touch: Answer phone calls, return emails, respond to invitations are a few ways to let people know you care.
  2. Be proactive: Do not wait for someone else to make the first move. If you meet someone that you believe could be a friend, invite him or her for coffee or lunch. Strike up conversations with strangers and see how things go.
  3. Know when to say "no" and when to say "yes": Do not decline an invitation because you feel insecure or shy. Only spend time with people that you find supportive.
  4. Do not compete: Be happy instead of jealous when someone succeeds or does something that you would have liked to do, but did not or could not.
  5. Be a good listener: Find out what is important to your friends and family. You might discover you have more in common than you think.
  6. Challenge yourself: Keep looking for ways to improve your social and communications skills. Maybe it is by complaining less, being more generous and forgiving other's faults.
  7. Do not overdo it: Especially in the beginning, be careful not to overwhelm your family and friends with phone calls, emails and invitations. Give them some space. Save those high-demand times for when you really need them.
  8. Appreciate your family and friends: Take the time to say thank you and express how important they are in your life.”
So, while I work with some of these people in the U.K. to help them establish a support group, please work on your own support network.  The benefits far outweigh the effort. 

Tuesday, July 19, 2011

Is it the forest or the trees?

At least once a year I write an article about this important subject.  And, yesterday, while reading a book, I saw the following quote.

“The only thing potentially worse than not being able to see the forest for the trees is not being able to see the trees because of the forest.”  Anonymous

I loved this quote because it is so true.  We often become blinded with the little knowledge we have and miss important factors concerning our health.  This often happens because we just believe or want to associate most health issues with Kennedy’s Disease.

Twice in the last week I have received emails from men that related symptoms that are not normally associated with Kennedy’s Disease.  I am happy men are asking rather than ignoring the symptoms.

So, let me say it again.  “Do not assume that every health issue is related to Kennedy’s Disease.”  Consult with your family doctor and neurologist whenever a new symptom shows up that is not normally associated with this health condition.

Each article takes a little different spin on the same subject.  The message can be reduced to seven words …


When in doubt … have it checked out!

Sunday, July 17, 2011

NIH now accepting applicants for clinical trial on Kennedy’s Disease and Exercise

Saturday’s KDA chat room had a special guest.  Christopher Grunseich, MD, Neurology, from the National Institute of Health joined the chat to explain the current clinical trial on exercise. 

Dr. Grunseich explained that NIH is currently accepting patients for this trial.  The doctor also provided information on the type of candidates they are hoping to recruit, the length of the trial and other pertinent information. 

A. Objective:
  • To see if a 12-week program of either strength exercise or stretching exercises will improve strength, function, or quality of life in people with SBMA
  • This trial is a ‘single-blind’ study.
  • NIH hopes to recruit 50 qualified candidates
B. Duration:
  • The subjects will be in the study for a total of 16 weeks- 12 weeks of exercise and then a 4 week follow up period. The person would go to NIH at the beginning and then again 12 weeks later.
  • NIH will pick up the costs for travel expenses.
C. Eligibility Criteria:
  1. Genetically confirmed SBMA.
  2. Ambulatory and walk a distance of at least 50 feet with or without a walker.
  3. Able to stand for 10 minutes without the use of any assistive devices.
  4. Willing to travel to the NIH at the beginning and end of the study.
  5. Willing to participate in telephone monitoring.
  6. AMAT (adult myositis assessment tool test) score of less than 41, but greater than 14.
  7. Male.
  8. Willing to participate in all aspects of trial design and follow-up.
  9. Access to a computer with an internet connection
  10. Able to do all of the exercises according to the standards of the study examiners at the beginning and end of the study
  11. Willing to forgo starting an additional exercise plan for the 12 week duration of the study
  12. Age greater than 18 years
D. For More Information:

Thursday, July 14, 2011

Get Energized

Living with Kennedy’s Disease is not only difficult for the person with the condition, it also wears on the caregivers and other family members.  The stress caused by the progressive disorder can take its toll on everyone.  When this happens, we find ourselves tired and more irritable with no way to find relief.

We’ve all been there at one time or another when everything becomes effort and there is little joy in life.  That’s is when we need an attitude adjustment.  Saying it is easy.  The difficulty is in the doing.

I read an interesting article in the Human Active Outlook magazine the other day.  It was titled, “Switch off energy zappers and Switch on energy boosters” and was written by Kelly Traver and Amy Avery.


The article had some good information on how to improve your overall energy. 
  • Eating the right foods and being conscious of what and when you are eating is a good first step.
    • Drinking plenty of non-sweetened beverages (e.g. water) helps because dehydration makes you feel tired.
  • Get eight hours of sleep every night to release stress and renew your energy.
    • develop regular bedtime habits.
    • Don’t watch TV in bed.
    • Make your room comfortable, slightly cool and dark.
  • Find activities that are stimulating and fun.  Participate in activities that you enjoy being around.
    • Exercise helps your brain produce feel-good chemicals that help bring up your energy and improve your mood.
  • Takeaway some of your daily routines.
    • Remove some of your daily responsibilities by either delegating them or spreading them out to every other day.
    • Schedule time for yourself.  Do something you enjoy and it will help renew your energy and attitude.
  • Don’t fan the flames.  Inflamed cells within the body can cause fatigue. 
    • Inflamed cells are damaged, swollen or weakened due to stress. 
    • This inflammation is behind almost every chronic disease including heart disease, cancer and arthritis.

The article also provided tips for anyone, including caregivers, on how to get (and stay) energized.  Yes, several items mentioned are included in the list above.
  1. Think about your own life and goals.  Focusing on other things that are important can re-energize you.
  2. Count your blessings.  Take note of things and people that are good in your life.  Record them in a gratitude journal or make it part of your daily prayer or meditation.
  3. Find ways to manage stress, exercise daily, and get a good night’s rest.
  4. Learn to accept things that you cannot change.  This can be difficult (especially when dealing with a progressive disorder), and it might take some time to change your way of thinking.  Dwelling on things you have no control over can cause stress and zap your energy.  Instead, put that energy into things that make you happy.
  5. Surround yourself with loving, positive friends.  Your body and brain will respond in a physical way by producing natural chemicals that make you happy.
  6. Laugh every day.  Laughter is the best medicine.  “Research shows that happy, optimistic people are healthier, recover more quickly, have fewer health complications, and live longer,” explains Betsy Nota-Kirby, Director of Wellness at LifeSynch.
The last section was titled “Turbo Boost It” and it provided the two best, cheapest, and easiest ways to boost your energy, reduce stress and ease a variety of symptoms.
  1. Exercise
  2. Sleep
  Exercise 4That’s right (#3 above), exercise regularly and  get Sleepyour sleep.  “Both work on your body and your brain to make you as healthy as possible.”

Tuesday, July 12, 2011

Dutasteride Update - Five months

Time flies whether you are having fun or not.  In a couple of days it will have been five months since I started taking dutasteride.  As promised, this is my monthly update.
The best way I can explain the journey so far is …
  • Months 1-3: 
    • Flying high and feeling great … better than I have felt in a several years. 
    • I continued to gain strength and add exercises/reps.  It felt like a miracle.
    • Energy was very good and level.  No fluctuations.
    • No side effects.
mighty mouse
  • Months 4-5: 
    • The high is gone, but the effects are still positive.  I now consider myself mortal again.
      • No longer able to leap tall buildings with a single bound.
    • My strength remains good … perhaps a gain of one to two years from where I was in January.
      • I had to back off slightly on the light-day exercises. 
      • I believe I just pushed myself too hard and went to far.
      • After backing off, everything was much better.
    • My energy is still good and fairly constant.
      • I do not seem to have the constant high, but it is stable with only an occasional small waiver for a day.
    • No apparent side effects.
The late May scare when I had overdone is long behind me and I am a little smarter (at least I hope so) and listening to my body again.

Sunday, July 10, 2011


We all have had experiences where we were embarrassed.  Perhaps it was a fall in front of strangers, or a slip of the tongue.  What I have found is that most of the time that I feel embarrassed, I shouldn’t.  It is normally an experience that most people have experienced or know a loved-one that experienced it. 

This knowledge becomes especially important as we learn to live with Kennedy’s Disease.  Most of my embarrassing moments were falls or an inability to do something (all work related and in front of colleagues and/or customers).

What brought this topic to mind is the editing of a true story of one of those experiences where I felt embarrassed, but shouldn’t have.  The story is “Caught” and it happened to me while I was flying back from a managers meeting in Seattle several years ago.  After the encounter, I realized that there was no reason why I should have been so embarrassed; but at that moment … wow!

embarrassed - 1 In my earlier articles I have written about several other embarrassing experiences, i.e., falling from a ladder or spilling my glass on my shoes in front of customers.  There is also one experience where I was embarrassed and had every right to be … because I really did get caught and it had nothing to do with Kennedy’s Disease.

I was a regional manager for a company.  I took a good customer to lunch one day.  During lunch another customer of mine walked into the restaurant.  The gentleman saw me and stopped by our table to say HELLO.  For some reason I blanked on his name.  I faked it for a minute or two and asked how things were going and I would be seeing him next week.  My customer stood there waiting for me to introduce him to my luncheon guest.  I was panic stricken and my mind just shut down.

Instead of being honest and just explaining that I forgot his name, I tried to fake it.  I pointed at my luncheon guest and said something like, “John Doe, I would like you to meet … I’m sorry, I always have trouble pronouncing your last name.”  The gentleman was very gracious, however.  He reached out his hand and said, “Smith, Rick Smith.  It is a pleasure to meet you.

embarrassed - 2 Well, you can about guess how small I felt.  And even though I tried, apologies were not going to be accepted for this blunder. 

Later I smoothed things over with Rick, but the experience taught me a valuable lesson.  It is better to tell the truth and live with that small embarrassment then to compound the problem by trying to fake it.  “SMITH ... you've got to be kidding me!

Friday, July 8, 2011

Going where no man has gone before

With mixed emotions I watched the last launch of the space shuttle today.

I loved growing up in the 60s where the United States was in a space race with the Soviet Union.  I remember going to NASA at Huntsville, AL in the 70s and being impressed.  I will not forget my visit to the Air and Space Museum in Washington, DC in the 90s.

space shuttle

Yet, nothing I have experienced can compare to being there … at Cape Canaveral ... for an actual launch.  It was twenty-seven years ago that I was fortunate enough to receive a VIP pass to a shuttle launch.  My son was thirteen at the time and my wife and I decided that this would be a once in a lifetime opportunity for him (and  for us).

We were there ...

It was early morning and the weather was perfect.  We were in the front row with the astronauts who were explaining  what was taking place inside the shuttle’s cockpit.  The anticipation as the giant digital clock counted down was a killer.  As the primary rockets fired, a roar came from the crowd.  Then, the spectators became silent as the shuttle lifted off and began its initial 90 degree rotation.  The earth began to shake and the roar of the engines caused the adrenaline to flow in all of us watching.

Huddled together, my wife, son and myself, we felt a flood of hot wind pound against our bodies as the shuttle rose skyward.  For several minutes we were mesmerized … focused … on the shuttle as it shrunk into the morning sky.

space shuttle 2

When it was over we continued to just stand there with smiles on our faces.  We were both exhilarated and exhausted.  We had been there to see a part of history unfold that morning.  We had shared an experience that would be remembered for the rest of our lives.

Today’s launch brought back so many great memories.  It was almost like we were there again.  I hate to see the space shuttle program end.  I do not want to see us take a back seat to other nations and corporations in regards to space exploration when we led the way for so many years.  Our country’s leadership had a vision.  They set unbelievable goals.  These goals forced the greatest minds to figure improbable and almost impossible ways to make things happen.

And, our space program brought with it advances in technology and research that have kept us in the leadership position for over four decades.  These advances have been the springboard for other advances in science, medicine, research, automation, computerization and business.

space shuttle 3

It caused us to dream ... and to ask 'what if'

Were you one of those kids that looked up in the night sky every so often wondering if you could see Sputnik or the shuttle in the heavens above?  When we first landed on the moon, did you sit out on your back deck and just stare at it … knowing that our astronauts were walking on the moon?  I know I was and so was my son.

Because of our space program, Star Trek became a real possibility … and no longer science-fiction.  What happened to that vision?  Why does our current leadership feel it is no longer important to be the first and the best?  How many years will it take us to get back on the path to … boldly go where no man has gone before?

Wednesday, July 6, 2011

Emergency Room Procedures

Quest Magazine has a good article this month on ER visits, titled:  “Going to the Emergency Room:  Tips for People with Neuromuscular Diseases”.  The article, written by Donna Albrecht reminds us of how important it is to think through these situations before they happen.


In earlier articles I wrote about my experiences in emergency rooms.  This Quest article reminded me about how we should not take things for granted … i.e., we will be able to communicate our needs and health issues.  Having an advocate with us is great, but that does not always happen.  Further, there could be a time when we are unconscious or not fully functioning so that we cannot explain our situation and health issues/concerns.

Dr. Gregory Carter, a regional medical director for the MDA, states that, “Most ER doctors will not understand these diseases.  Because of that, a respiratory patient can end up with an unwanted tracheotomy when an ER doctor pushes for aggressive care.”  This is just one example and those of us with Kennedy’s Disease need to be prepared for many types of recommended procedures.  For example, making certain the treating doctor knows that certain types of anesthesia could cause long term health issues or be dangerous and cause recovery problems.

The article continues … “But the biggest danger at the ER may not be the problem you go in with, but the problem you get there.”  It goes on to say that, “some neuromuscular disease symptoms can lead to serious misunderstanding in the ER.”  One example provided was that certain conditions cause floppy extremities and a lack of reflexes.    These patients may be sent for a full spinal work-up to look for injuries.


“The best strategy for going to the emergency room is to be prepared before the emergency strikes.”  The article recommends the following:
  • MedicAlert bracelets or necklaces are important … as long as they are kept up to date.  When doctors call that service they are given all of your health information that is and the date the information was last verified.  Information should be no more than a year old, but even better is if it is verified every 90 days.
    • If you do not have a bracelet, carry information in your wallet and car.  Make the information easily identifiable.
  • Take a buddy or health advocate with you.  This is great unless there is an emergency and you are away from home.  If it is a buddy, the person needs to be fully aware of all of your health issues, medications, and concerns.  Something as simple as your concern with pneumonia, aspiration issues and needing your upper body elevated to reduce buildup of fluids in the lungs has to be communicated.
  • Awareness beyond the emergency room.  Make certain that not only the doctors and nurses in the ER are aware, but also the lab specialists (X-ray technicians, for example) know of your health issues.
  • Be your own advocate.  Being a self-advocate is very important.  The doctor is not always right … especially if they do not understand your condition.  “If something is not right and your gut tells you so, advocate until someone pays attention to you.”
  • Advance directives do the talking for you.  Advance directives express your wishes in cases where you cannot.  Forms are available online or are available from your doctor, the hospital or an attorney.  Make certain that the form you use will be recognized in your state and is kept current.
    • These forms contain a medical power of attorney, who can make medical decisions if you cannot speak, etc.
    • Specifications about how much life support you want, the level of pain management to administer, etc. 
    • Name and contact information of your physician.
Be Prepared

Once again, the Boy Scout motto of “Be Prepared” fits perfectly.

Did I forget anything?  If so, let me know so that others will also know.  Thanks.

Sunday, July 3, 2011

You are not alone

There are times when we all have felt alone.  Some of the reasons we can feel that way are:
  • When we are harboring a secret … something we do not feel comfortable sharing even with loved ones. 
  • Or, when we have lost someone or something important to us and believe no one can truly understand what that loss means.
  • It also can happen when we do not feel like we fit in with a crowd or group of people. 
  • And, it can happen when we are hoping for a call or for someone to reach out to you, but we refuse to take the first step and make the call our self.
You are not alone

No matter what the reason, feeling alone is often unbearable and is not healthy. 

Several times a year I hear from someone who recently was diagnosed with Kennedy’s Disease.  The person feels alone – isolated from family and friends.  They do not want to hurt their loved ones by showing they are vulnerable … that this worries them … and that they are afraid. 

They carry the burden of what is happening to their body like a “scarlet letter”.  They also try to protect their family and friends by holding back.  They feel they should be able to “suck it up” (handle it).

You are not alone 1

Yet, by locking themselves away from their loved ones, they do more damage than good.  Even worse, wife or the significant other, family (especially the children), and friends also feel isolated because they also have a need to ‘talk it out’ …
  • They want to understand how you are doing. 
  • They also need to share that they are there for you … willing to help in any way possible.
  • And, they want you to know that they will always love you, no matter what happens.
Even if we believe the above, we still cannot always breach the subject.  We have always been there for others, but all of a sudden we are ‘one of the others’.  It was okay to be that shoulder to cry on or the listener when someone needed to talk.  But, for some reason we feel uncomfortable switching positions.  Why is that?

One of the most beautiful and reassuring moments is when you can finally open up and let it all out knowing that you are not being judged.  When you experience that moment, it is such a relief.  You finally feel that it is okay … they understand … they are there for me … and most importantly, you are not alone.

MyStock Photo of a Handshake only question for you is, “What are you waiting for?”  

P.S.  If you feel isolated or alone, let me know.  I will try to help.  I was there once; standing right beside you.