Thursday, September 20, 2018

MDA Grant for Research on SBMA

The following article appears in NewsWise. Click on the link below to read the entire article.

Dr. Carlo Rinaldi Receives Co-Funded AANEM Foundation/MDA Grant for Research on Spinal and Bulbar Muscular Atrophy

 Carlo Rinaldi, MD, PhD, has been selected as the recipient of a development grant co-funded by the AANEM Foundation and the Muscular Dystrophy Association (MDA). Dr. Rinaldi, who works as an Associate Professor in the Department of Physiology, Anatomy and Genetics in the Division of Medical Sciences at the University of Oxford in the United Kingdom, will be using this funding to increase understanding of the pathophysiology of spinal and bulbar muscular atrophy (SBMA). SBMA is a neuromuscular disorder characterized by the degeneration of lower motor neurons and primary muscle atrophy. Dr. Rinaldi’s ultimate goal is to develop effective therapeutic treatments for this yet incurable condition.

Dr. Rinaldi’s research objective is to characterize the role of the androgen receptor (AR) isoform 2 on AR biology and its impact on SBMA toxicity. His central hypothesis is that AR45 is a key regulator of AR activity and represents a promising therapeutic target for SBMA.

“There is currently no treatment available for SBMA,” explained Dr. Rinaldi. “This research work has the potential to shed new light on the role of the AR isoforms in both health and disease, advance understanding of the mechanisms of pathogenesis in SBMA, and provide a new therapeutic target in close relationship with the disease-causing mutation.” 

“Dr. Rinaldi has the strong support of the Neuroscience community in Oxford to pursue his research into the mechanisms of motor neuron degeneration in SBMA,” noted Kevin Talbot, MB, PhD, FRCP, Head of the Division of Clinical Neurology and Professor of Motor Neuron Biology and Consultant Neurologist at John Radcliffe Hospital in Oxford. “This is a neglected area and he is in an excellent position to be a leader in this field, both within Europe and worldwide.” …

Monday, September 17, 2018

Research Proves My Wife Wrong

For several years, my wife has told me, “You’re getting dumber every day.” She follows it up with something like, “I don’t know if it is the Kennedy’s Disease or what, but…”

Well, researchers have proven her wrong ‘once again’, and I love it. 😊

Nature.Com published in September the results of a study of patients with Spinal Bulbar Muscular Atrophy. Click on the link below to read the entire study.

UnimpairedNeuropsychological Performance and Enhanced Memory Recall in Patients with SBMA:A Large Sample Comparative Study


“Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field. We consider 64 neuropsychological evaluations assessing mnesic, linguistic and executive functions collected from 2013 to 2015 in patients attending at Motor Neuron Disease Centre of University of Padova (Italy)…”

“…the aim of the present study is to report the neuropsychological evaluation of a large sample of SMBA patients in order to contribute towards the definition of these patients’ cognitive profile.”

“…administered brief neuropsychological battery aimed to a fast evaluation of short- and long-term memory, linguistic abilities and executive functioning (for details please see methodological section). The tasks’ choice had a clinical finality and was aimed to assess the integrity of the cognitive functions in order to eventually consider hinderances to an adequate communication with the doctor, or that could undermine patients’ compliance in the home management of care…”


Neuropsychological findings - “ANCOVA results showed no statistically significant difference between groups in all the examined test performance, except for the Babcock Story Recall Test score, in which patients performed better than control participants, with no relevant influence of age and education. Education level was instead a statistically significant covariate for all the other measures, while participants’ age was found statistically significant for the TMT B-A and the DSf scores only…”

Discussion – “No frank cognitive impairment was found in our retrospective study on 64 patients with SBMA, as deduced from the scores of patients on neuropsychological tests, compared with those of healthy male subjects. Surprisingly, patients showed better performance on the Prose Memory test score…”

“…This interpretation nicely fits with the phenomenon of the so called somatic mosaicism, characterizing this pathology. It implies that the number of CAG-repeats is not constant in every cell of an individual, but it may vary across tissues, including the cerebral ones; such an instability is typical of other neuromuscular diseases…”

Full Disclosure:  My ‘wonderful’ wife never said those things. She has questioned my intelligence, however, when I do something dumb and end up falling.

A Special Thank you:  Istvan Reinhardt sent me the link to the above study.

Monday, September 10, 2018

Long-Term Care Options

Below is a guest post from Hazel Bridges. I consider it an excellent primer for an important subject facing most everyone at sometime in their life, not just those of us living with Kennedy's Disease. Thanks, Hazel, for sharing this information.

Living with a Chronic Disease
Long-Term Care Options

When you wake up in pain every morning, can’t handle daily living tasks, or have difficulty with cognitive functions, you need help. Often, that help comes in the form of loving friends and family who want to lend a hand. However, the reality is that you must also plan for long-term care needs that can’t be handled by your loved ones.

Planning for Long-Term Care

Barriers to Self-Care

Chronic illnesses present specific barriers to long-term self-care. The Lippincott Nursing Center categorizes these as psychological, physical, cognitive, economic, and social and cultural. Regardless of the reason care is required, the decision to choose at-home or residential/nursing care is deeply personal and requires planning and preparation.

Care at Home

Home is the most comfortable place for the vast majority of people with chronic illnesses. And with a little help, it can be a safe haven for recovery or just to enjoy life on your own terms. HomeAdvisor explains there are numerous forms of at-home services. These include:

     Home health aides. A home health aide is an individual who helps with daily tasks such as hygiene and bathing. They may also assist with cooking, laundry, and grocery shopping. Home health aides are not licensed for offer medical services.

     Adult day care. These facilities are designed to cater to older adults or those with physical and cognitive disabilities. They offer supervision and assist with dispensing medications and hygiene as needed.

     Skilled nursing. For individuals with health needs beyond the capabilities of themselves, friends, and family, a licensed nurse can provide more in-depth and involved medical services. This may include administering injected medications and assisting with physical therapy activities.

Residential/Nursing Facilities

If home health care is no longer feasible, an assisted living or skilled nursing care facility is an option. While typically associated with seniors, these housing programs may also be available to adults, teens, and children with severe disabilities.

     Assisted living. An assisted living campus is one where individuals and couples (typically seniors) live in their own apartment, home, or condominium. They have access to a central campus area that provides recreational activities. Assisted living often includes housekeeping, meals, and help taking medication.

     Skilled nursing. A skilled nursing care facility is different from assisted living in that people who live here are not able to care for themselves without direct medical intervention. Those who reside in a skilled nursing care facility may have the option of living in a private room or sharing accommodations with another patient in order to receive a discounted fee and enjoying constant companionship.

Paying for Long-Term Care

Covering Costs

One of the main concerns of receiving paid care is the question of financing it. Elmcroft Senior Living estimates that long-term nursing care averages between $225 and $253 per day. À la carte home services may be less expensive with an at-home caregiver charging an average of between $10 and $35 per hour. Medicare does not cover the cost of assisted living or skilled nursing care for the long-term. Paying for these accommodations and services often falls to private health insurance, Medicaid, individual savings, or SSI disability.

Lifestyle Factors That Affect the Need for Care

Those living with a chronic disease may have no choice other than to receive care the vast majority of their lives. Others, however, may find that small lifestyle changes reduce reliance on others. People who smoke are more likely to need intense medical supervision later in life than those that don’t. Exercise can also help preserve independence by keeping muscles strong and improving balance, which will lower the possibility of sustaining a falling injury. Excessive drinking, drug use, and engaging in risk-taking behaviors can also increase the chances that you or a loved one will need medical care. Minor home modifications, such as added lighting and a wheelchair ramp, may also extend your ability to remain independent.

For more information on making the decision to enter or put a loved one into nursing care, visit the AARP online.

Image via Pixabay

Friday, September 7, 2018

Don’t Give Up The Ship

"Don't give up the ship" was the dying command of James Lawrence in 1813 aboard the USS Chesapeake. Those words should be the battle cry for all of us living with Kennedy’s Disease, aka Spinal Bulbar Muscular Atrophy.

At times, it is easy to feel defeated. This is especially true after a ‘slide’. When we experience them, the first thought is will I bounce back. The next thought is usually laced with fear. What happens if I do not bounce back?

In my 40+ years of living with Kennedy’s Disease, I have experienced my share of slides. When I was a little younger and more resilient, my slides were steep and my bounces just as dramatic. These last few years, my bounces are not as dramatic and sometimes there is no bounce at all.

A few months back my choking became a daily issue. Almost everything I tried to eat would not go down without a fight. It took me thirty to sixty minutes to eat a meal. Many times, I could not finish a meal because of the choking. I lost more weight and began to research other options for receiving the required nutrition.

These choking episodes went on for a couple of months. It got to a point where I did not want it to be mealtime. Yet, something inside kept telling me to practice my swallowing exercises. Then, during the first week of August, I noticed an improvement. Food was going down easier. I found myself eating more and enjoying my meals again. The last few weeks I discovered I am putting on weight again.

During the ‘bounce back’, I continued to practice what I learned during the choking period. I drink water to help wash food down. I use more gravy and other juices to make it easier to swallow. I limit ‘sticky’ foods like bread that have crumbs and are more difficult to swallow. And, most importantly, I now practice my swallowing exercises at least three times a day.

Once again I learned no to give up the ship without a fight!

P.S. Want to learn more about the Captain Lawrence and the battle? [Click on this link]

"...During the War of 1812, Captain James Lawrence, commanding the 49-gun frigate U.S.S. Chesapeake, was attacked off Boston Harbor by the British ship H.M.S. Shannon.

In less than 15 minutes, Lawrence's crew was overwhelmed. Mortally wounded, Lawrence shouted, "Tell the men to fire faster and not to give up the ship; fight her till she sinks!" ..."