Friday, August 28, 2015

Latest Research of SBMA (Kennedy's Disease)

Both EurrekAlert and News Medical published the following article on misfolding diseases including Kennedy’s Disease (SBMA). It is good to see more attention focused on this condition.

“Future Science Group (FSG) today announced the publication of a special issue in Future Science OA, covering the rapidly evolving field of protein misfolding diseases.

Protein misfolding diseases, such as Alzheimer's and Parkinson's Disease, are rising in incidence and seeing increasing financial and healthcare burden. Treatments and accurate diagnostics for these diseases are lacking.

This issue of Future Science OA, featuring Guest Editor Salvador Ventura (Universitat Autònoma de Barcelona, Spain), highlights recent advances in the understanding of these disorders, and provides fresh ideas for their future therapy. In a series of articles written by experts at the cutting edge of the field, the issue begins by looking at recent inroads into our expanding knowledge of protein misfolding disorders and their protein targets. It then goes on to look at amyloid aggregation in specific disease areas, including the neurodegenerative: Alzheimer's, Parkinson's and Huntingdon's disease; glioblastoma; cystic fibrosis; spinal and bulbar muscular atrophy; and malaria. …”

Also, eLife published the abstract of a recent study of Kennedy’s Disease. I understood some of the article, but am hoping Ed Meyertholen will provide some needed clarification on this research.  


“Spinal and Bulbar Muscular Atrophy (SBMA) is a progressive neuromuscular disease caused by polyglutamine expansion in the Androgen Receptor (AR) protein. Despite extensive research, the exact pathogenic mechanisms underlying SBMA remain elusive. Here we present evidence that Nemo-Like Kinase (NLK) promotes disease pathogenesis across multiple SBMA model systems. Most remarkably, loss of one copy of Nlk rescues SBMA phenotypes in mice, including extending lifespan. We also investigated the molecular mechanisms by which NLK exerts its effects in SBMA. Specifically, we have found that NLK can phosphorylate the mutant polyglutamine-expanded AR, enhance its aggregation, and promote AR-dependent gene transcription by regulating AR-cofactor interactions. Furthermore, NLK modulates the toxicity of a mutant AR fragment via a mechanism that is independent of AR-mediated gene transcription. Our findings uncover a crucial role for NLK in controlling SBMA toxicity and reveal a novel avenue for therapy development in SBMA.”

Note: You can download the PDF of the abstract near the top of the linked page.

A Father - Daughter Bike Ride

Some people are very creative. They are always looking for better ways to do things or solve particular problems. I was visiting the Kennedy's Disease Raising Awareness Facebook page and watched this posted video. Check it out and let me know what you think.

What a great way for these two to be together outdoors on a nice day.

Friday, August 21, 2015

Real Courage

“Courage is not having the strength to go on;
it is going on when you don’t have the strength.”

I read the above quote from Theodore Roosevelt this morning and told myself I needed to write a blog article.

We have a friend who has just completed her cancer treatments. She has had chemo, radiation and surgery. During this long grueling battle, there were times she couldn’t eat, other times she couldn’t sleep, times she was so weak she could hardly move, and many times where she experienced terrible pain. Her attitude amazes me. She knows she is going to beat this. 

I still remember a friend who was near death. The cancer had spread throughout her body. Even though she couldn’t eat, couldn’t really sleep because of the pain, and was so weak she could hardly move, she always asked how I was doing. She felt terrible that I had Kennedy’s Disease and she prayed for science to discover a cure for it. She accepted that her time on this earth was near its end, so she focused her energy and prayers on others who still might have a chance. That is real courage and strength.

We all know people who have beaten the odds. People who found a way to maintain a positive attitude during ridiculously difficult times. They are survivors–if not physically, than within our memories. Their courage supports us during our own difficult times. 

When I have the occasional lapse and my attitude slumps, I just think of these two friends for a needed adjustment. How can I wimp out when they didn’t?

Photo: Schuitema - Human Excellence Group

Tuesday, August 18, 2015

Build a better mousetrap ...

I read this story by Steve Lohr about a new startup in the NewYork Times BITS section. Even though the article is more about the start-up and the two entrepreneurs, their idea of having a place on the internet where you can easily find handicap accessible homes, apartments, swaps and vacation rentals is a great idea. It makes me think of the Emerson phrase, “Build a better mousetrap, and the world will beat a path to your door.” I hope they are successful. Accomable’s website is:

Accomable: Lessons From an Inspiring Start-Up

“Srin Madipalli and Martyn Sibley, like many entrepreneurs, got the idea for their start-up from their everyday experience, seeing a problem to solve. 

Both young men have spinal muscular atrophy, which leaves their bodies confined to motorized wheelchairs. Their physical disability has not confined them in many ways: They are educated, successful and well-traveled. But travel has often been a challenge. 

“We know how difficult it is, and the information for assisted travel is terrible and not connected to booking accommodations and services,” said Mr. Madipalli, a London lawyer-turned-entrepreneur.

So this year, they founded Accomable, which they describe as “Airbnb for disabled people and anyone with mobility difficulties.” The service is just getting underway, with the website opening to users in June and about 100 properties listed so far, mostly in Britain and elsewhere in Europe. Accomable is looking to add properties in America. …”

Thursday, August 13, 2015

Finding a neurologist is not an easy task

My neurologist retired and I have been hesitant in finding a replacement. For some reason, I just wasn’t in the mood to go through the process of starting all over, especially with someone who is not familiar with Kennedy’s Disease.
When my wheelchair representative and my GP both recommended the same doctor, however, I thought what the heck and made an appointment. The week before, I went through my records and copied my DNA test, diagnosis letter from my neurological tests in 1996, my most recent blood test results, my fall history, the results of my last physical, a synopsis of my current condition and concerns, and copies of the current clinical trials.
Dr. Alpers at the University of Tennessee Medical Center is well known for his work with ALS patients. He only has one other patient with SBMA. Once again, I was called a ‘rare bird’. He felt the 1-in-40,000 was an optimistic number. Dr. Alpers was thorough, knowledgeable, professional, caring and friendly.
During the examination, he commented he wanted to baseline my current capabilities and
condition with a few tests (blood, pulmonary, etc.). One series of tests for swallowing I wasn’t interested in and he didn’t try to talk me into it. He was also interested in the current KD clinical trial and asked that I keep him up to date on any findings.
At first, I wasn’t certain whether his work with ALS patients would be beneficial. By the end of our 1½-hour session, I was convinced I found the right doctor. Since, he sponsors the ALS Clinic in Chattanooga; he invited me to attend the next session. He said I could meet with Occupational and Physical Therapists, Dieticians, and other specialists during the quarterly clinics.
We also discussed my current capabilities and mobility equipment. He asked about my wheelchair and if it met my needs. He also wanted to know if I needed anything to make life easier. When we finished our session, he said that if I needed anything, don’t hesitate to call.
So, what I had been putting off for some time, turned out to be a positive experience. Next week I have my pulmonary test. After I attend the ALS Clinic in mid-October, I let you know how that went.

Saturday, August 8, 2015

The Permobil F3 Corpus

Old Faithful, my Permobil C300 wheelchair, was beginning to show signs of aging. The chair has been good to me, but it needed new tires, two new motors (and maybe the seat lift also), replace the batteries, new seat cushion, new cut-off switch, etc. When I priced the total repair bill, the decision was made to get a new chair instead.

Introducing the Permobil F3 Corpus, the replacement for the discontinued C300. I have had it for a week and I am impressed. The website describes the F3 in this way:

The F3 CORPUS offers the smallest footprint of this redesigned series of front-wheel drive power wheelchairs. Its size and agility let users move quickly in and out of tight spaces like busy city streets and crowded areas like malls...or even parties. The platform has a lower, repositioned center of gravity, which greatly improves stability while traversing inclines or declines. With its fully independent suspension, the F3 provides a comfortable ride and allows users to navigate the obstacles of life.
The CORPUS® SEATING SYSTEM. We retained all of the things that you have come to expect from the legendary Corpus seating system like the arc legrests, the open armrest design and the UniTrack System. Then, we took the Corpus seating system to the next level with advanced features such as: the 12” seat elevator and the A/P tilt function, which allows for optional 5º, 10°, 20° and 30° of anterior tilt, while maintaining 50° of posterior tilt. The A/P tilt helps our users with transfers, added reach, and allows them to get closer to a table or workspace.

I feel having a seat lift is mandatory for someone living with Kennedy's Disease (SBMA) and I am impressed with the 12” seat lift. “The new seat elevator utilizes 3 points of contact and shifts the seat rearward as it elevates to maintain an unimaginable level of stability even at full elevation. This allows individuals to get closer to tasks while providing faster and higher elevation.” 12” is nice – it really gets you up there while still feeling stable. The fact that the lift motor is three times faster than the C300 is even nicer. 

Many things are similar to the C300 as well as some nice new additions or enhancements. Stability seems much greater, even though the C300 wasn’t bad. The Corpus seating system (3rd generation) is even nicer. The footrests are lighter. I could go on, but I need to mention the other side of the coin.

And, as with most everything, there are a couple of things that I do not like as much. The armrests, for example, are ¾” wider making the chair 1½” wider at the arms. The first few days I was scraping doorframes right and left and couldn’t figure out why. The rear wheels need adjusting. They are not as smooth when backing up or turning as the C300 right now. 

Because of all the combinations of seat height, leg rest position, back and seat tilt, etc., I am checking into a memory option that will keep three positions for enhanced ease of use. As I use the chair more, I’ll keep you advised as to my thoughts on the chair.