Growing old with Kennedy's Disease

When initially diagnosed with ALS, I was devastated. I could live five years—perhaps ten if I was fortunate. When Dr. Fischbeck later correctly diagnosed me with SBMA, I felt I had a new lease on life. Then, the fears and paranoia showed up again. I was my own worst enemy. 

One thing I noticed while living with forty years of progression of Kennedy's Disease was that what negatively affected me (mentally and emotionally) in my late twenties and thirties is not a concern today. Most were unfounded fears of what could be, not what was. What I thought was earth shattering back then is something that I live with every day, and most often do not even consider today. In other words, I have matured with the disease and discovered more about it and about me.

In the beginning of my battle with this disease, I feared the worst and hoped for the best. I told little 'white lies' when asked if anything was the matter. Admitting I had the disease was something out of the question—especially at work. I looked at it as a weakness, something that will make me less of a husband, father, manager, and co-worker. Today, I realize that the real weakness was my inability to be honest with others and myself. Life would have been far simpler.

I now know living with the disease is never as bad as what I imagined. And, in some ways, it is worse. The most difficult part about living with the disease today is seeing how far my strength has deteriorated over forty years. The most satisfying part is knowing I am still active, engaged, enjoying life and helping others.

Today, "safety is job #1." When I am injured, I am not the only one that suffers. My wife has to change her life to accommodate my injury. That is why I error on the side of caution.

The Serenity Prayer, "God grant me the serenity to accept the things I cannot change (i.e., Kennedy’s Disease diagnosis), the courage to change the things I can (i.e., my bad habits, outlook,  attitude and patience), and the wisdom to know the difference." 

In closing, I leave you with my last and probably my most important learning. People are there for you when you need them.

Image: lawrenceofcyberia.blogs.com

Photo:  Trip Adviser                               

Life Doesn’t End With The Diagnosis

I remember when I was diagnosed with ALS. I could not have been more devastated. Then, a few years later, when my diagnosis was corrected to Spinal Bulbar Muscular Atrophy, it was initially a relief. It did not take long, however, for reality to settle in. I had Kennedy’s Disease!

My symptoms appeared in the late 20s. I am now 70. When I look back at those first days after finding out I had KD, I have to laugh. Life did not end with the diagnosis. It began.

After the initial shock, I realized I had control of my thoughts and feelings. The diagnosis was also a wake-up call. I climbed mountains in my 40s, sailed the San Juan Islands, explored the reefs in Hawaii, hiked hundreds of miles of trails in the mountains and lowlands, and became a licensed pilot. I could go on, but all this happened after the symptoms appeared.

The redeeming feature of Kennedy’s Disease is it progresses slowly. I still have good days and bad days, just as I did before KD. I still become frustrated and resentful at times. I still lash out at others when it is meant for me. And, what is interesting about this is that these events would also happen if I did not have KD. It is called ‘LIFE’. I experience, adjust and adapt. But, I continue to live the best life possible.

Life is a journey of discovery. And, as with any person’s life, there are hills and valleys, as well as rivers and deserts, that have to be traversed. There will be good times and not so good times, but each will be its own learning experience. That is why this blog is called, “Living with Kennedy’s Disease… until there is a cure.

Photo: https://weheartit.com/entry/42876870

Participating in your diagnosis

As many of us who are living with Kennedy’s Disease, or other rare disorders, know, the road to a correct diagnosis can take a long time and it might be littered with one or more misdiagnoses along the way. For example, many of us were initially misdiagnosed with ALS.  And, even today, when some unknown health issue in involved, the diagnosis process can be just as long, expensive and frustrating.

The CostCo Connection magazine had an interesting article this month called, “Talk to your doc.” I felt the article emphasized something I have discussed several times in this blog – Advocacy. Dr. Leana Wen, author of “When Doctors Don’t Listen” explains that “often when a patient goes to a doctor, they have a series of tests to rule out problems, and patients often end up learning only what they don’t have, as opposed to an actual diagnosis of what they do have.”

Dr. Wen believes that medicine has evolved to a cookie-cutter approach that often leads to patients being mis- or undiagnosed after suffering the side effects of many unnecessary tests and months or even years of wondering what is happening within their body.

Her book includes the ‘8 Pillars to Better Diagnosis’ to help doctors reach the right diagnosis.

1. Tell your whole story. Even if your doctor is steering you away from a narrative and toward a cookbook world of chief complaints, tell your story.
2. Assert yourself in the doctor’s thought process. Find out what your doctor is thinking as he or she is listening to your history.
3. Participate in your physical exam. As your doctor is examining you, ask what he or she is looking for specifically.
4. Make the differential diagnosis together. Keep asking what else could be going on. Evaluate with your doctor the likelihood of each possible diagnosis.
5. Partner for the decision-making process. Partner with your doctor to devise a plan for narrowing down possible diagnoses.
6. Apply tests rationally. Do not just consent to tests. Ensure that your doctor explains why each test should be done and what the test will help determine or rule out.
7. Use common sense to confirm the working diagnosis. You should reach at least a working diagnosis at the end of every visit to the doctor. Make sure that the diagnosis makes sense.
8. Integrate your diagnosis into the healing process. Once a diagnosis is made, ask questions so you understand the possible treatments as well as the risks, benefits and side effects.

To learn more, visit www.whendoctorsdontlisten.com .

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.

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.

When in Doubt, Ask for a Second Opinion

In an earlier post titled, "Not Every Health Issue is Related to Kennedy's Disease," I mentioned, "Those of us living with Kennedy's Disease have to always be careful that we do not associate (blame) every unusual symptom or health issue on the disease. If it is not listed in the common symptoms for Kennedy's Disease, make certain you check with your GP and neurologist. Just because we have Kennedy's Disease does not mean we are immune to all other health disorders."

Well, it appears that not just the patient, but doctors, when stumped, can also associate almost any health issue with Kennedy's Disease. This week I received an email from a spouse whose husband has Kennedy's Disease. The man was in the hospital being treated for pneumonia. The doctors had him on a feeding tube and he came down with a terrible case of diarrhea that could not be corrected. The doctors ran all kinds of tests, but could not find anything wrong (what was causing the diarrhea). In the end, they felt that Kennedy's Disease must cause the diarrhea. The spouse did not go along with the diagnosis, so she contacted the Kennedy's Disease Association to confirm the doctor's assumption that diarrhea was associated with Kennedy's Disease.

Do not just automatically agree with your doctor if something does not sound right. Do a little "leg-work" on the Internet and even contact a known expert in the field (e.g., someone that knows Kennedy's Disease) before accepting the diagnosis. If the diagnosis still does not sound right, ask for a second, or even a third, opinion. Doctors make mistakes. Doctors are like most of us when confronted with an unknown; they look for the answer based upon known facts including medical history. I am not saying that is bad, I just believe they can be wrong like anyone else.

I remember when I was a teenager; my parents accepted anything our doctor diagnosed or recommended. Today, I understand that a consultation is just that. It is a meeting of the minds. It does not necessarily mean the diagnosis is correct, it is just the best guess based upon the information and test results that are available.

I believe it is important that we become caretakers of our own health. We need to keep detailed records of doctor's visits, test results, medical history, etc. We also need to understand that we have an opinion and a voice in any diagnosis and treatment recommended. Yes, the doctor is the professional, but it is our body and health. When there is any doubt, just say "time out." And, do not be afraid to ask for a second opinion.