Tuesday, March 29, 2016

Wellness Physical

I just returned from my annual wellness physical. This review is an important part of my taking ownership for my health.

A couple of weeks before the physical, I review my Kennedy’s Disease journal for the last year. Important information regarding changes to my health are highlighted and tagged for easy review. I take this information and write a year in review synopsis for my doctor. Changes in strength, capabilities, and other health issues shown including:

  • What changed, improved, worsened or appeared?
  • When the situation first appeared or changed?
  • How long did it last?
  • What impact it had on my health?

The synopsis is the first thing I discuss with my doctor. It seems to be a good starting point for other health related discussion topics. This morning’s list generated a spirited discussion concerning issues around exercise, swallowing, tongue atrophy, specialty needs in regards to remaining mobile, pneumonia, etc. The best part of these discussions is the catch-ball moments. I explain the situation, he asks follow-up questions, we discuss potential needs and options, and we end up with a course of action and/or understanding. 

The good news from today’s examination; I’ll probably live another day or two. J I am in good health. My diet is good. I am managing my Kennedy’s Disease. I have the support of my doctor should I need any help. 
For several years I have written about the benefits of maintaining a health and exercise journal. My previous blood workup reports are a part of this journal. At any time I can compare months or years to determine what has changed and why. If you haven’t started your journal yet, please give it a try. It might just change your life and how you live it.

Friday, March 18, 2016

Mitochondrial Dysfunction in Kennedy’s Disease

I came across the following on the Kennedy’sDisease – Raising Awareness Facebook page:
I have been taking Acetyl L-Carnitine since September and have seen a dramatic improvement in the reduction of muscle fatigue, resulting in greater activity and better health overall. I started with L-Carnitine at 500 mg to see if there were any side effects, then after one month I switched to Acetyl L-Carnitine (which crosses the blood/brain barrier), again 500mg to start then 1000. Its hard to quantify what 'better' is in our lives, but.... so far this month, I have built 12' of cabinets in the dining room, built a 15x16ft glass greenhouse at the end of the drive and moved two pallets of brick pavers and two yards of soil. All jobs that have been waiting for several years.

There was also a link to the study and I have posted that below.

First, I must qualify myself. I am not a doctor or medical student. So, any comments are strictly of a layman with an interest. In reading the article, I noticed it was not a study. This article reported the findings in studying one patient with KD. It proposes the possibility of this regiment in helping improve energy (reducing muscle fatigue). The article proposes a more complete study to determine if the initial findings can be duplicated.

When there was a lot of excitement from other Facebook members wanting to give this a try, the gentleman responded with the following caution.
Please, everyone, little steps.... no one gains if you break your leg running to the store. Try a small dose in the morning with food if you like for a few days. It is expected to help with muscle fatigue only, so that means embarking on some activity as well. The aim is to feel better; not eliminate the disease. Too much too soon and you may experience side effects that remove it as a therapeutic tool.

This is sound advice. One patient doesn’t make a study. IMPORTANT: Always consult with your primary doctor and your neurologist before beginning any supplements, especially in high dosages.

Of course, anyone with SBMA wants to know more, so I looked up the definition:

Mitochondria: Structures located in the cell's cytoplasm outside the nucleus. Mitochondria are responsible for energy production. Each consists of two sets of membranes: a smooth, continuous outer coat and an inner membrane arranged in tubules or in folds that form plate-like double membranes (cristae). The mitochrondria are the principal energy source of the cell. They not only convert nutrients into energy but also perform many other specialized tasks. Each mitochondrion has a chromosome that is made of DNA but is otherwise quite different from the better-known chromosomes in the nucleus. The mitochondrial chromosome is much smaller than other chromosomes. It is round, whereas the chromosomes in the nucleus are shaped like rods. There are many copies of the mitochondrial chromosome in every cell, whereas there is normally only one set of chromosomes in the nucleus. All mitochondrial chromosomes are inherited from the mother.
Reference: NIH, US Library of Medicine, Genetics Home Reference. Mitochondrial DNA. 
I also looked up possible side effects for this supplement and this is what I found at WebMid.  

Acetyl-L-carnitine is LIKELY SAFE for most adults. It can cause some side effects including stomach upset, nausea, vomiting, and restlessness. It can cause a "fishy" odor of the urine, breath, and sweat.

Under-active thyroid (hypothyroidism): There is some concern that acetyl-L-carnitine might interfere with thyroid hormone. Don’t use acetyl-L-carnitine if you have an under-active thyroid.

Seizures: An increase in the number or seriousness of seizures has been reported in people with a history of seizures who have used L-carnitine by mouth or by IV (intravenously). Since L-carnitine is related to acetyl-L-carnitine, there is a concern that this might also occur with acetyl-L-carnitine. If you have ever had a seizure, don’t take acetyl-L-carnitine.

Mitochondrial dysfunction in Kennedy’s disease: a new pharmacological target?
Chong Wang, Wei Chen, Dan Miao, Jin-Tai Yu, and Lan Tan


Mitochondrial impairment and elevated oxidative stress have been implicated in the pathogenesis of Kennedy’s disease. However, there is still no study describing the mitochondrial nutrient management in patients with Kennedy’s disease.
We assessed the clinical and electrophysiological features in a patient with Kennedy’s disease. This patient was diagnosed by genetic analysis. We also measured the plasma 8-hydroxydeoxyguanosine (8-OHdG) levels of the patient and his family members using commercial enzyme-linked immunosorbent assay (ELISA). Treatment with intravenous L-carnitine (2 g/day) for the patient was started on admission, followed by two weeks.

Tuesday, March 15, 2016

Kennedy’s Disease and ALS

Even though Kennedy’s Disease (SBMA) is becoming more widely known in the medical community, I still receive calls or emails requesting additional information on the condition after a person has been initially diagnosed with Amyotrophic Lateral Sclerosis (ALS). One major difference between the two conditions is that SBMA effects the lower motor neurons where ALS effects both the upper and lower motor neurons.

Sunday I received such a call. A woman in her late 70s was experiencing swallowing problems and the occasional fall. Her doctor diagnosed the health concern as Familial ALS (FALS). Since she never experienced any symptoms until the past year, she did her own research and came across Kennedy’s Disease. Several symptoms were similar to ALS and a few she felt fit her better. 

The average age of onset for ALS is in the mid-to-late 50s, however, there have been cases where symptoms first appeared in the patient’s 70s. The ALS Association has a good PDF report on the Epidemiology of ALS here.  To learn more about ALS, follow this link to the ALS Association.

I also ran across an interesting 2008 report on how Kennedy’s Disease mimics ALS. The summary is shown below with a link to the actual report. 

Kennedy Disease Mimics Amyotrophic Lateral Sclerosis:
A Case Report

Mu-Hui Fu, Min-Yu Lan, Jia-Shou Liu, Shung-Lon Lai, Shun-Sheng Chen,
and Yung-Yee Chang
Abstract- Kennedy disease (KD) is an X-linked inherited motor neuron disease that is often accompanied by androgen insensitivity. Its estimated incidence in the US is approximately 1 case in 40,000 men. KD has also been reported in individuals of different racial backgrounds, especially in Japanese but the prevalence rate in Taiwan has not been fully investigated. Here we report a case of KD definitely diagnosed by abnormal expansion of a polymorphic tandem cytosine-adenine-guanine (CAG) triplet repeat in the first exon of the androgen receptor gene. The direct genotyping from polymerase chain reaction product is subsequently performed utilizing capillary electrophoresis. The patient’s neurological conditions mimic amyotrophic lateral sclerosis (ALS). Since these two diseases have different etiologies and prognosis, it reminds us the necessity to rule out KD in face with a suspected male case of ALS.

Wednesday, March 9, 2016

Who’s really in charge?

March’s CostCo Connection magazine had a nice article written by Wally Amos. For those of you who don’t know who Mr. Amos it, he is best known for his Famous Amos chocolate chip cookies.
The article, “Spring-clean your spirit,” reflects on his decision to give up trying to control his life. He writes about how he experienced many anxious moments that caused unrest and other challenges. When he began to analyze these experiences, he discovered that his attempt to control his life, and everything entering it, was causing him disruptions and failures in both his personal and business.
“Being in charge was so ingrained in my consciousness that I needed something more.” A message he remembered reading said, “For peace of mind, let go of being the general manager of the universe.” So, he decided to take a step back, get out of the way and remove himself from the picture. What he found was that there was constant love flowing into his life. He didn’t have to work for it or even search for it, because it was already there.
By changing his perspective of wanting (needing) to be in control, to one of accepting the love that already exists, he found a path of far less resistance.
He ends the article with the following question. “What beliefs are hidden deep within you that need changing? Identify them and clean them out. I promise you, life will become so much more productive, peaceful, fun and enjoyable. …Everything will be resolved when you put love first.”
Those of us living with a constant health issue, for example a progressive neuromuscular condition, often cling to past notions and beliefs. We want our health back. We want to be ‘normal’ again. We can’t understand why this happened. Why isn’t there a cure? Why me?
It is easy to become fixated on what was rather than what is. Acceptance is letting go of past beliefs. It doesn’t mean giving up. We are just giving up trying to control what we have no control over in our life. We will try to see the love and the good in our life without adding “but” or “if” or “should” or “shouldn’t.” We accept what is. We enjoy the rose’s beauty knowing that it also has thorns. And, with this acceptance comes peace and contentment.
I am not naïve enough to believe this change happens overnight. It takes work. There will be many failed attempts, but there will be some wins also. The thorns will still prick me, but I will not let them distract from the rose’s beauty. And that beauty is called “my life.”

Rose Photo:  2010_10300084 rs.jpgBy alive
Thorns Photo:  DSC_0132.JPG By kfjmiller

Sunday, March 6, 2016

The Power of Kindness

The story below has been around for at least ten years. I liked it because of it's simplicity of message. In the original version, this next sentence follows the story. Since this is my blog, I believe it should proceed it.

Too often we underestimate the power of a touch, a smile, a kind word, a listening ear, an honest compliment, or the smallest act of caring, all of which have the potential to turn a life around.

When I was young and full of p___ and vinegar, so many things went by unnoticed, or noticed and then forgotten. At some point in my life, I started to appreciate these little moments. And, fortunately for me, memories of many of those moments from my childhood and early adult years poured in. With the progression of Kennedy's Disease, the opportunity to notice these moments has increased substantially. Whether from a caregiver, a friend, or a stranger you pass on the street, the power of a smile, a hug, a kind word, etc. can change your world.

Even though you might have read this story before, I ask that you take a moment and read it again. It always brings a smile to my face and a warmth in my heart. Enjoy.

Lunch with God

A little boy wanted to meet God. He knew it might be a long trip to where God lived, so he packed his backpack with a bag of potato chips and a six-pack of root beer.

When he had gone about three blocks, he saw an old woman. She was sitting in the park, just staring at some pigeons. The boy sat down next to her and opened his backpack. He was about to take a drink from his root beer when he noticed that the old lady looked hungry, so he offered her some chips. She gratefully accepted them and smiled at him.

Her smile was so pretty that the boy wanted to see it again, so he offered her a root beer. Again, she smiled at him. The boy was delighted. They sat there all afternoon eating and smiling, but they never said a word.

As twilight approached, the boy realized it was time to go home. He got up to leave; but before he had gone more than a few steps, he turned around, ran back to the old woman, and gave her a hug. She gave him her biggest smile yet.

When the boy arrived home, his mother was surprised by the smile on her son's face. She asked him, "What did you do today?"

He replied, "I had lunch with God. You know what? She's got the most beautiful smile I've ever seen."

Meanwhile, the old woman returned to her home. Her son was stunned by the look of peace on her face. He asked, "Mother, what did you do today?"

She replied, "I ate potato chips in the park with God. You know, he's much younger than I expected."

Photo: 112629662430.jpg by wunee

Tuesday, March 1, 2016

What happens when you can no longer safely transfer?

It wasn’t that long ago that I fell stepping out of the shower. I found myself stuck on the floor because I couldn’t put any weight on my legs because of the pain. After trying several options for an hour or more, we contacted a friend. He was able to pick me up and place in my wheelchair. I purchased a portable hydraulic lift right after that. Fortunately, I haven’t had to use it, but it is there just in case.

A gentleman living with Kennedy’s Disease found he could no longer safely transfer to/from his bed to the wheelchair or to/from the commode. He took it upon himself to research options available and posted his findings as well as some comments in the KDA Forum – Liftsand Hoists

You’ll find photos of a few of the lifts as well as their links below. Depending upon your needs, whether you own or rent, and if you need portability or not, one of these might work for you. If you can recommend other devices, please let me know or post them in our forum.