Friday, December 29, 2017

Why is everyone so willing to share?

Why won’t people listen?

I keep on telling them I don’t need it. I don’t want it. And, to keep it. But, they won’t listen.

My wife came down with some kind of crud (cold?) and it really nailed her. I told her, I didn’t want it. But, no, she just had to share. It is day three and it is not pretty. If she wanted to share something, why not her health?

My daughter, who lives in Minnesota, has ridiculously cold weather right now. I told her to keep it. But, no, she sent is anyway. it arrived and this next week will be 20-30 degrees below normal for the entire week. If she wanted to share something, why not her time – a visit would be a lot better than the freezing cold.

I don’t consider myself a complainer, but I go out of my way to avoid people that are sick. Yet, it is hard to avoid your wife. 😇

And, since cold temperatures do a job on my muscles, I moved south to avoid it. What’s all the flack about global warming? It feels like the beginning of the ice age.

I’m done complaining. Back to my normal PMA.

Saturday, December 23, 2017

Happy Holidays

This season, 
I once again pray for peace

Think of what we could accomplish if we worked together for the good of mankind

Merry Christmas and Happy Holidays
Have a safe, healthy and happy 2018 filled with love

Stay Upright!
And a special thank you to our armed forces and their families 
They sacrifice so much in service to our country

Thursday, December 21, 2017

SBMA and Fatty Liver Disease - Follow up

This is a follow-up to an earlier article on this research. This article in Neurology Advisor has an important message for your doctor.

“… Patients with spinal-bulbar muscular atrophy (SBMA) are at high risk for nonalcoholic liver disease as well as elevated glucose, serum triglycerides, and insulin, according to study findings published in Neurology.”

“… Although the researchers indicate that previous research has demonstrated elevations of serum cholesterol in patients with SBMA, the small sample size of 14 in the second group limits the study's detection power for this variable.

Because of the liver's prominent role in drug metabolism, the investigators suggest healthcare practitioners "prescribing medications or evaluating candidate therapeutics for patients with SBMA should be aware of the risk for fatty liver disease and monitor hepatic function." …”

Tuesday, December 19, 2017

Tis the Holiday Season for Change

The Greek philosopher, Heraclitus, said, “Change is the only constant in life.” He felt things are always changing, and we need to plan for and be ready for it when it happens.

My wife goes crazy this time of year decorating the house. And, I love it. She is so creative. The house comes alive with the Spirit that is Christmas. Interestingly, she is never quite satisfied with what she does. Often, in a day or two, things are moved or rearranged in such a way that it is new again.

This year, she has gone over-the-top. There will be nineteen of us here for Christmas. I know the last few days will be stressful for her as she prepares the meal, but right now, she is still rearranging things.  😇

It draws an analogy to what happens to those of us living with Kennedy’s Disease. We find ourselves constantly changing how we do things to accommodate our current capabilities. And, since KD is a slowly progressing disorder, we never seem to run out of opportunities for change. What worked last year, no longer accomplishes the task. What currently works, might not work in a year or two, so we had better be looking for ways to adapt.

There are some blessings to be derived from this. We cannot afford to become lazy or complacent. We must constantly explore opportunities and find other ways to accomplish things. In some ways, it is the gift that keeps on giving.

From one early adapter to another, I wish you a…


Monday, December 11, 2017

Huntington’s breakthrough

I have mentioned in earlier articles that Huntington’s Disease share a common genetic defect. It was first reported several years ago a PubMed article links acommonality between HD, KD and SCA-1.

“…Three neurodegenerative diseases, Huntington's disease (HD), Kennedy's disease (hereditary spinobulbar muscular atrophy, SBMA), and type 1 spinocerebellar ataxia (SCA-1) have been found to share a common genetic defect: an unstable region of repeated CAG trinucleotides…”

This morning I read a BBC News report about a potential breakthrough in the treatment and possible cure of Huntington’s Disease. This appears to be another positive step forward in search of an eventual treatment or cure for Kennedy’s Disease.

Huntington’s breakthrough may stop disease

James Gallagher, Health and science correspondent, reports: “…The unstoppable death of brain cells in Huntington's leaves patients in permanent decline, affecting their movement, behaviour, memory and ability to think clearly.

  • Huntington's generally affects people in their prime - in their 30s and 40s
  • Patients die around 10 to 20 years after symptoms start
  • About 8,500 people in the UK have Huntington's and a further 25,000 will develop it when they are older Huntington's is caused by an error in a section of DNA called the huntingtin gene.
  • Normally this contains the instructions for making a protein, called huntingtin, which is vital for brain development. But a genetic error corrupts the protein and turns it into a killer of brain cells.

The treatment is designed to silence the gene…”

“…On the trial, 46 patients had the drug injected into the fluid that bathes the brain and spinal cord. The procedure was carried out at the Leonard Wolfson Experimental Neurology Centre at the National Hospital for Neurology and Neurosurgery in London. Doctors did not know what would happen. One fear was the injections could have caused fatal meningitis. But the first in-human trial showed the drug was safe, well tolerated by patients and crucially reduced the levels of huntingtin in the brain…”

Wednesday, December 6, 2017

Kennedy’s Disease and Botox - Possible Side Effects

A man with Kennedy’s Disease experienced increased phlegm in recent years causing coughing, gagging, and more difficulty talking. He saw a specialist to see if there was anything that could be done to help.

The gentleman contacted Dr. Christopher Grunseich at NIH to explain the situation and the procedure used to hopefully correct the issue.

“The last GI doctor recommended the possibility of reflux causing the problem and suggested an esophagus manometer test, followed by a pH sensor placed at the bottom of the esophagus to measure the pH for a 48 hour period. The results (attached) were negative as far as reflux but the lower esophagus sphincter muscle was too strong - indicating the possibility of saliva pooling at the lower esophagus and thus causing the problem. I was told that Botox placed around the lower esophagus muscle could cause it to relax and prevent the suspected pooling.”

He went on to explain the side effects of the injection. “…Within the last two weeks I have been noticing remarkable weakness in my upper body strength. My head drop has gotten worse and my left arm is twice as weak as it was before the procedure. Is there any way that the local injection could have spread throughout my entire body?”

Dr. Christopher Grunseich responded.

“Sorry to hear that you have been experiencing worsening weakness and head drop. It is possible that the botox has contributed to worsening some of your symptoms, although it is difficult to say this with certainty. There have been case reports of patients receiving botox who have had systemic side effects (weakness), and there are several individuals in the attached series who do not have an underlying neuromuscular condition with symptoms developing 6 weeks after injection. The chance of systemic side effects may be related to the total dose and frequency. Your dose was lower (100 Units) than others who have reported side effects (with doses usually closer to 700 Units), but the Kennedy’s Disease may also make your muscles more sensitive to a lower dose, if some of the botox did spread systemically.

The reasons why there may be systemic effects from Botox injection are not clear. I would recommend that you try some other intervention with the gastroenterologist regarding the lower esophageal sphincter muscle. Perhaps a pneumatic dilation would have the chance of fewer side effects. We would anticipate that the weakness symptoms would gradually improve if they are a side effect of the Botox. It would be good for the neurologist to also see you to evaluate the change in strength.”

Dr. Grunseich also a PDF report explaining the potential of increased weakness with the use of Botox. Click here to read that study. There is another also another study concerning endoscopic injections. Click here to read that study.

Tuesday, December 5, 2017

Advice from a 40-year veteran of Kennedy's Disease

Yes, sometimes I am amazed that it has been forty years in the making. I have learned a lot about living with Kennedy's Disease over these last four decades.

A young man stumbled upon my blog the other day and wrote me. He is 34 years old and just diagnosed with Kennedy's Disease. He wrote, "I don’t really know what to expect or even how to deal with things. Can you recommend to me anything as far as exercising or vitamin/ supplements or really anything I can do to try to remain my best possible. My neurologist will only see me every 6 months and really hasn’t told me much other then I need to see a genetic counselor  Any recommendations you may have will be appreciated  "

I responded:.

  • Exercise is important. Don't overdue, however. There is something called the 70% rule. Exercise to 70% of your capability. This will keep your good muscles and motor neurons strong and active without doing damage.

  • What your weight. As the condition progresses, it becomes more difficult to stay mobile. Keeping your weight down makes it easier to walk and sustain a good level of activity. 

  • Exercise and a good diet will go a long way in staying healthy. Inactivity and certain foods contribute to certain health conditions. Since we are less active, we don't burn as many calories and are more susceptible to certain conditions.

  • Safety first. When you are young, it shouldn't be too much of an issue, but I did a lot of damage in the early years because I didn't know when to back off.

  • Keep a positive mental attitude. 

  • Life doesn't end with KD; it just changes. If there is something positive about KD, it is the slow progression of the condition. You shouldn't observe too many problems in the early years. 

  • Seek out support from those of us living with KD. The KDA, the KDA Forum, Facebook, etc. Always remember you are not alone.

  • Most importantly, KD does not define who you are and what you are capable of doing. Observe, adjust and stay active. You might not physically be able to accomplish something the way you used to do it, but it can still be done or you can ask someone to do it for you.

What I thought of later:

  • Dr. Grunseich at the NIH recommended the following. Those of us living with Kennedy’s Disease should avoid high doses of B-6 because it worsens the neuropathy systems. The normal dosage in a multi-vitamin should be fine.

  • He also said that we should consider taking additional supplements of B-12 because it is good for the nervous system.

  • Swallow your pride. It is okay to ask for help when you need it. Others will understand and look forward to helping. 

  • The MDA Clinics are beneficial for those of us living with progressive conditions. There are clinics in most major cities in the U.S. and Canada. I am certain there are similar organizations in other countries. Join one of these groups. They provide excellent support and give you access to certain mobility aids through their "Loan Locker."

  • At some point when mobility has become an issue, consider taking Dutasteride. I feel it has helped me maintain my strength.