ALS Disability Insurance Act

ALS Disability Insurance Act of 2019 (H.R. 1407, S.578)

ALS is a quickly progressing disease. People diagnosed with ALS can’t afford to wait to access the SSDI benefits they desperately need.

Currently, all people living with Amyotrophic Lateral Sclerosis (ALS) who qualify for Social Security Disability Insurance (SSDI) must wait five months before they can begin receiving these benefits.

To address this issue and provide relief for these individuals, Sen. Sheldon Whitehouse (D-RI), Sen. Tom Cotton (R-AR), Rep. Seth Moulton (D-MA), and Rep. Peter King (R-NY) introduced the ALS Disability Insurance Act in February 2019. The legislation would eliminate the five month waiting period for SSDI benefits for people living with ALS so that they can begin receiving these benefits immediately.

Because ALS can progress very quickly, it is essential that diagnosed individuals are able to access SSDI benefits as soon as possible. Congress has recognized the urgent need of the ALS community before when it voted in 2000 to waive the two year waiting period for Medicare eligibility for ALS patients.

The Muscular Dystrophy Association has led the way for innovations in ALS science and care for nearly 70 years. We have dedicated hundreds of millions of dollars to ALS research, and care for tens of thousands of people diagnosed with ALS and their families.

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in SBMA

The link below is to a very detailed report on a recent Kennedy's Disease (SBMA) research study. It is too detailed for me to summarize.

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy

 

... It has been widely reported that the ligand-dependent nuclear accumulation of mutant AR is required for SBMA pathogenesis17,18,46. This mechanistic insight into the toxicity of polyQ-expanded AR ultimately led to clinical studies that tested the effect of the androgen suppressors leuprorelin acetate and dutasteride on disease progression in SBMA patients81,82,83. Despite recent evidence that long-term treatment with leuprorelin acetate modestly slows disease progression84, overall the protective effects of androgen suppressors observed in SBMA animal models have not had a substantial impact on disease progression in symptomatic patients. The lack of an effective treatment for SBMA underscores the need for a better mechanistic understanding of aspects of mutant AR metabolism that can be targeted to ameliorate its toxic effects. To this end, the goal of this study was to determine if nuclear export, a poorly understood step in the metabolism of AR, plays a role in SBMA pathogenesis and whether reducing nuclear AR by enhancing its export can reduce its aggregation and toxicity.

The results of our study demonstrate (1) that the nuclear export of polyQ-expanded AR is impaired, (2) that enhancing the nuclear export of polyQ-expanded AR with an exogenous NES decreases its aggregation and toxicity by promoting its proteasomal degradation, (3) that polyQ-expanded AR exhibits reduced phosphorylation at S650 and that blocking S650 phosphorylation further exacerbates its nuclear export deficiency, and (4) that global disruption of nucleo/cytoplasmic transport is not a common feature of SBMA models.  ...

...  This study offers the first evidence that the nuclear export of polyQ-expanded AR is impaired, highlighting a novel aspect of AR metabolism that may contribute to the pathogenesis of SBMA. Furthermore, our data support a model in which the mutant AR is rapidly degraded by the proteasome once exported from the nucleus, thereby decreasing its stability, aggregation, and toxicity. Although additional work will be required to fully elucidate the mechanism underlying deficient nuclear export of polyQ-expanded AR, our results provide a new direction for investigations into therapeutic manipulation of the mutant, polyQ-expanded AR in SBMA.

Who Packs Your Parachute

Living with a progressive neuromuscular condition tends to push a lot of buttons. It is easy to become down, frustrated, angry, feel less than whole, and not see the beauty that surrounds our daily lives.

My brother sent me a story about U.S. Navy pilot Plumb. I found it fascinating and looked online to confirm the story. Kare Anderson wrote in Forbes a good synopsis of Plumb, his story, and his question to all of us.

About Charles Plumb

Author Unknown

Charles Plumb was a US Navy jet pilot in Vietnam. After 75 combat missions, his plane was destroyed by a surface-to-air missile. Plumb ejected and parachuted into enemy hands. He was captured and spent 6 years in a communist Vietnamese prison. He survived the ordeal and now lectures on lessons learned from that experience.

The story about Charles Plumb, "Who Packs Your Parachute," is a strong and interesting true story that has been shared with many people over the years during lectures and leadership courses.

Who Packs Your Parachute

"...I was a fighter pilot, and he was just a sailor.”

One day, when Plumb and his wife were sitting in a restaurant, a man at another table came up and said, “You’re Plumb! You flew jet fighters in Vietnam from the aircraft carrier Kitty Hawk. You were shot down!”

“How in the world did you know that?” asked Plumb.

“I packed your parachute,” the man replied.

Plumb gasped in surprise and gratitude. The man pumped his hand and said, “I guess it worked!” Plumb assured him, “It sure did. If your chute hadn’t worked, I wouldn’t be here today.”

Plumb couldn’t sleep that night, thinking about that man. Plumb says, “I kept wondering what he might have looked like in a Navy uniform: a white hat, a bib in the back and bell-bottom trousers. I wonder how many times I might have seen him and not even said 'Good morning, how are you?’ or anything, because, you see, I was a fighter pilot, and he was just a sailor.”

Plumb thought of the man hours the sailor had spent on a long wooden table in the bowels of the ship, carefully weaving the shrouds and folding the silks of each chute, holding in his hands each time the fate of someone he didn’t know.

Now, Plumb asks his audience, "Who's packing your parachute?" Who has done something that has helped make your day safer – or easier or more pleasant – or who have you witnessed “packing” for someone else?

Each of us are touched by individuals who provide what we need to make it through the day. Some help inadvertently. Praise that person anyway. You are supporting the kind of behavior you respect – making it more likely to happen again.

This is where during Plumb's talks he asks his audience,

“Who’s packing your parachute?”

Everyone has someone who provides what they need to make it through the day. 

Plumb also points out that he needed many kinds of parachutes when his plane was shot down over enemy territory. He needed his physical parachute, his mental parachute, his emotional parachute and his spiritual parachute. He called on all these supports before reaching safety.

Sometimes in the daily challenges that life gives us, we miss what is really important.

We may fail to say "hello," "please," or "thank you," congratulate someone on something wonderful that has happened to them, give a compliment or just do something nice for no reason."

As you go through this week, this holiday season, and this coming year, recognize people who pack your parachute.

The above story is also my way of saying, THANK YOU.

Thank you for reading my blog, for writing me, for providing suggestions and feedback, for everything else you do in "packing my parachute."

Happy Holidays!

Biomarkers of Spinal and Bulbar Muscle Atrophy

This report was published in Frontiers of Neurology three days ago. Excerpts are below and the entire report ban be read by following the link.

Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review

Biomarkers in SBMA

A biomarker is a parameter that can be measured accurately and reproducibly and used as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention (WHO definition, 1998). An ideal biomarker should have a predictive value and capture subtle changes over relatively short periods of time. Additional requirements to biomarkers include cost-effectiveness, non-invasiveness, and reproducibility. It is generally agreed that no single biomarker is suitable for diagnostic, prognostic and monitoring roles and a panel of several markers may be better suited as multirole indicators. SBMA is a rare and slowly progressing condition, therefore the development of sensitive outcome measures would enable smaller sample-size and shorter duration of pharmaceutical trials.

Biomarkers of Neurological Involvement in SBMA

In recent years, an unprecedented interest has developed in the standardized assessment of neuromuscular performance in SBMA, evaluation of novel therapeutic strategies and in the launch of national SBMA registries. Many of the commonly used instruments, such as the MRC score, respiratory function parameters, the modified Norris scale, ALSFRS-r, Quantitative Myasthenia Gravis Score etc. are non-specific to SBMA, yet remain widely utilized. As these tools have been developed for other conditions, new batteries of tests have been recently proposed to specifically appraise disability in SBMA.

Discussion and Future Perspectives

Interest in SBMA biomarkers has grown steadily in recent years, fuelled both by accruing knowledge about pathogenesis and novel therapeutic strategies. SBMA is now widely recognized as a multisystem syndrome. A multitude of studies focus on multi-organ involvement, and the systemic phenotype is now considered just as relevant as the neurological manifestations. It is increasingly recognized that non-neurological features of the disease have an equally important impact on the patients' quality of life. Until now, clinical trials on SBMA focused almost exclusively on the treatment of motor symptoms, but a shift to targeted molecular therapies and focus on systemic processes are likely to be witnessed in the near future. From a clinical trial perspective, ideal biomarkers should undergo robust validation, sensitivity and specificity profiling, and sampling and measurement harmonization across different centers. Crucially, candidate markers should be able to detect the subtle changes expected after the administration of a specific treatment. Given the particularly slow progression rates observed in SBMA, the definition of an effective outcome measures is challenging. The integration of neurological, metabolic, and endocrine indicators seems essential into composite biomarker panels in addition to functional scales. Serum creatinine levels appear to correlate strongly with motor impairment and HOMA-IR index with disease duration. The convincing validation of these parameters and their use as effective outcome measures in clinical trials will require robust multicenter study designs.

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.” …

Always Listen to your Mother

I have been accused more than once of looking at the world through rose-colored glasses. When I looked up the meaning of the term, this is what I found. “An optimistic perception of something; a positive opinion; seeing something in a positive way, often thinking of it as better than it actually is.” Okay, that is probably me, but why would I want to live my life only seeing the negative?
 

It is easy to become caught up in the negative impact Kennedy’s Disease has on our lives. Yet, there is a little good in some of the changes we have to make to accommodate living with KD. For example, I mentioned the swallowing issues I have experienced recently. Because of it, I now need to:

• Slow down and focus on what I am eating 
• Take smaller bites 
• Chew my food thoroughly before swallowing 
• Not talk with food in my mouth 

Well, these are all things my mother harped on me when I was young. She would be so proud of me today. 😊

Seriously, when I do all of the above and perform my swallowing exercises a couple of times a day, I have less problems with eating and swallowing. And, it sure is better than choking and gagging on food.

Thanks, Mom

My Motto: LFT-PFT

I started this blog nine years ago on a whim. I wanted to capture my thoughts, experiences and emotions of living with this condition called Kennedy’s Disease. In the forty-plus years of being associated with this progressive neuro-muscular disorder, I have had my share of ups and downs. Many of my 860 blogposts are a testament to my life of living with Kennedy’s Disease.

A life where…

• Hopes have risen and been dashed
• Friends made and lost
• Lessons learned and relearned
• Experiences documented and shared

Fortunately, my spirit remains strong. It will not allow me to wallow in self-pity for long. Whenever my resolve is tested, my spirit wins every time.

If I consider how bad things can be in the years ahead, what I can still accomplish today becomes a blessing. When I find myself feeling sorry for what I can no longer do, I take a moment to look back on a life filled with wonderful memories. When I lose hope, the love of my family and friends lifts me up.  

My moto is “Live for Today and Plan for Tomorrow.” I do not want to let negativity ruin my day. Yet, I want to be prepared for what might be in my future. I find if I plan for it, the experiences never seems quite as bad.

All of you living or associated with this rare disorder are my extended family. Thank you for being there for me when I need a lift.

Stay upright!

Dietary Modifications for Swallowing Issues

This is the fourth article in the series on Swallowing Issues. The following information is taken from the ALS Manual on Swallowingand Adjusting to Swallowing Disorders. Since Kennedy's Disease (SBMA) has bulbar related issues, there could come a time when swallowing and choking becomes an issue. I hope you find this information helpful.

On a personal note: Since excessive phlegm and swallowing issues appeared nine months ago, I have noticed a decline in my weight because I have to be careful what I eat and how I eat. Some meals take close to an hour to finish. 

Modified Diets and Mealtime Compensations

The purpose of modifying the consistency of food or liquids is to compensate for swallowing difficulties you might be experiencing. Altering the consistency to a more appropriate texture will help reduce energy expenditure during feeding, chewing, and swallowing. This will allow you to conserve energy throughout the day and experience less fatigue during mealtimes. Eating foods that require minimal chewing and moistening foods with sauces and gravies helps to reduce mealtime fatigue and eating duration.

In the throat, there are two sets of naturally occurring “pockets” that can catch foods, especially if the muscles involved in swallowing are impaired or weakened. Oftentimes this causes a sensation of “food sticking” or residue in the throat. You may feel the need to swallow an additional time in order to pass the residue and alleviate the sensation of food sticking. Moistening foods with sauces or gravies can serve as a lubricant and ease the passage of the food through your throat during swallowing and may reduce the likelihood that the materials will get stuck in the pockets in your throat.

Taking smaller bites and sips of food and liquid respectively may make it easier to control the food during the swallow. Additionally, alternating a sip of liquid every one to two bites of food may help to push the food materials down to your stomach. If medications become difficult to swallow whole, most can be crushed and taken with a tablespoon of yogurt/pudding or provided in liquid form (consult your physician or pharmacist for verification). Four different levels of modified diets are reviewed in Table 3.

Usually, individuals with safe swallowing do best eating a mechanical soft diet. This requires less chewing during the oral preparatory and oral phases of swallowing. Some people, however, may require a more restricted diet if their swallowing is deemed unsafe.

Coughing, choking, or difficulty swallowing may occur even with the use of mealtime compensations and dietary modifications. At that time, it may be beneficial to undergo a Modified Barium Swallow study to determine the safest diet consistency and safe swallowing recommendations.

Using Thickeners

The purpose of thickening agents or thickeners is to make regular liquids thicker (more viscous) and slow the flow rate of the liquid material during swallowing. Recall that swallowing occurs in less than 2 seconds. During this time over 26 pairs of muscles and 5 different cranial nerves need to coordinate and move in a complex pattern to protect the airway and direct the ingested materials towards the esophagus (food pipe) and away from the windpipe.

Adding a recommended thickening agent to liquids allows the swallowing system greater time to coordinate and protect the airway because the thicker liquids move at a slower speed, and in some individuals allows greater control of liquid material during swallowing (Table 4).

Like the levels of solid food modification, there are also different levels of thickening for liquids. Thickeners come in powder (starch based) and gel form and can be added to many of your favorite drinks to make them safer and more manageable. Your SLP will provide you with information on how to thicken your fluids to the recommended consistency. Some examples of brands of thickening agents are, Nestle® Resource Thicken Up, Simply Thick, and Thick-It.

Coughing or throat clearing during or directly after drinking liquids is a sign of aspiration.

Table 3: Dysphagia Diet Levels and Appropriate Foods to Eat

Food Diet Level	Examples of Food in This Level
Level 1: Pureed	• Pudding • Pureed oatmeal, breads, meats • Hummus • Pureed fruits and vegetables
Level 2: Mechanical Soft	• Scrambled eggs • Meatloaf • Well-cooked vegetables • Pancakes • Mashed potatoes • Canned/cooked soft fruits
Level 3: Advanced	• Bread slices • Muffins • Moistened cereals • Pasta, casseroles • Baked potatoes • Soft/ripe fruits • Fish
Level 4: Regular	No Food Avoidances or Restrictions

Table 4: Thickening Liquids

Nectar-Thickened Liquids	• Liquid is a consistency slightly thicker than water • Does not contain fruit nectar or nectar flavoring
Honey-Thickened Liquids	• Liquid resembles the consistency of honey at room temperature

Do You Have Difficulty Swallowing?

Continuing the series on Swallowing Issues, the following information is taken from the ALS Manual on Swallowing and Adjusting to Swallowing Disorders. Since Kennedy's Disease (SBMA) has bulbar related issues, there could come a time when swallowing and choking becomes an issue. 

Typical Swallowing Difficulties

Swallowing difficulty can occur during any stage of the swallowing process. You
may experience one or several symptoms we discuss; however, it is important to be aware of what may develop so appropriate changes can be made to ensure safe swallowing. You may begin experiencing symptoms and find they progress quickly. For this reason, frequent monitoring by your SLP will help to identify and intervene in order to keep swallowing safe.

1. During the first stage of swallowing (medical term: oral stage), you may
experience a “heavy tongue” that makes it difficult to move and control food
and liquid inside your mouth, chew, and clear all material from your mouth
once you swallow. Due to lip weakness, food or liquid may spill out the front of
your mouth while eating.
2. Impairments in the second stage of swallowing (medical term: pharyngeal
stage) may include a sensation of food “sticking” in your throat after you
swallow, coughing frequently during the meal, or food/liquid coming out
your nose.
3. Regurgitation of food or liquid during or after the meal may be an indication
of problems with the third stage of swallowing (medical term: esophageal
stage). 

The onset of swallowing difficulty varies, so being aware of potential
difficulties is beneficial. If you are experiencing any of these symptoms,
it is important that your SLP and neurologist are aware so they can make
appropriate recommendations. These difficulties and other swallowing-related
impairments are listed in Table 1.

Table 1: Typical Swallowing Difficulties 

Stage of Swallowing	Swallowing Difficulty
Oral Preparatory/Oral Stage	• Difficulty managing saliva • Difficulty chewing/fatigue with chewing • Food/liquid spilling out through the lips • Drooling • Difficulty controlling food/liquid in the mouth • Difficulty pushing the food/liquid to the back of the mouth • Residue in the mouth and cheek
Pharyngeal Stage	• Food “sticking” in the throat • Food/liquid coming out the nose • Coughing or choking during mealtime • Shortness of breath and fatigue during mealtime • Reduced cough strength and effectiveness
Esophageal Stage	• Regurgitation of food/liquid into the throat and mouth • Food “sticking” in the throat/base of neck

Risk of Aspiration and Malnutrition

Many people with ALS have entry of saliva or food into their airway without noticing it happening. This is called silent aspiration and is something about which you need to be very aware. Therefore, it is very important to closely evaluate swallowing function with the use of the Modified Barium Swallowing study, which is the gold standard test for identifying swallowing impairment and airway invasion. During this test, you are asked to swallow different consistencies of liquids and food while the swallowing process is filmed with an X-ray machine.

Safe Swallowing Strategies

Your SLP and Registered Dietician/Nutritionist (RDN) may recommend different strategies to help compensate for specific difficulties in swallowing while maintaining nutrition. The purpose of these strategies is to make mealtime easier, more manageable, and safe. Strategies commonly recommended for swallowing and mealtime, and why they may help, are outlined in Table 2.

Table 2: Common Swallowing Strategies Recommended by Your Speech-Language Pathologist

Swallow Strategy	Description	May Help…
Effortful Swallow	Swallowing hard, squeezing all of your throat muscles as hard as you can	Reduce or eliminate “leftovers” or residue in the throat
Chin Tuck Posture	Tucking your chin down to your chest while you swallow	Help protect food or liquid from entering your airway
Small Bites/Single Sips	Taking small, single bites of food and sips of liquid	Reduce exertion and fatigue during the meal
Double Swallow	Swallowing 2x per sip of liquid or bite of solid/soft/pureed food	Help to eliminate food/liquid left over after the initial swallow

Red Flags: Signs That Indicate Trouble Swallowing

Certain symptoms indicate difficulty swallowing and can be observed during
mealtime. Symptoms that indicate a possible swallowing impairment include:

■ Coughing and/or choking on food or liquid while swallowing
■ A wet or gurgling-sounding voice immediately after swallowing food or liquid
■ Difficulty chewing
■ Food escaping out of the mouth during chewing or liquid spilling from the lips
■ Increased mealtimes
■ The need for smaller bites and/or sips
■ Drooling of saliva or liquids
■ Food coming out the nose
■ Regurgitation

■ Difficulty managing secretions (saliva) during meal and throughout the day
■ Shortness of breath during mealtimes

Previous articles on swallowing:
Understanding Swallowing
Sphincter Weakness

Understanding Swallowing

I mentioned in my previous post, SphincterWeakness, the ALS Association’s PDF guide on Swallowingand Swallowing Disorders. Several readers asked questions concerning swallowing issues they are experiencing. Until I read the guide, I never understood how complicated the entire process is and the coordination needed, both voluntary and involuntary, to make the process successful. Today’s post is taken from the guide and is a primer on the swallowing process. I hope you find it as interesting as I did.

U N D E R STA N D I N G SWA L LOW I N G

The Normal Swallowing Process

The primary purpose of swallowing is to safely transport food and liquid from the mouth to the stomach. The act of swallowing is a complex process that involves approximately 26 pairs of muscles and five cranial nerves that work together to propel food from your mouth to the stomach.

The swallowing process has been divided into four conceptual stages, namely the oral preparatory, oral, pharyngeal, and esophageal stages. Typically, food and liquid pass from our mouth and through our throat in less than two seconds, however, the sequence of events is very involved. The following events occur during each stage:

Oral Preparatory Stage: Food is placed into the mouth either with a feeding utensil (fork or spoon), fingers, cup, or straw, and then is chewed and prepared for swallowing. This typically involves a hand-to-mouth transfer motion as food is taken from a plate and placed into the mouth, or when a cup is picked up and placed at the lips for drinking.

Oral Stage: The muscles of the mouth, jaw, and tongue work to prepare the food material for swallowing. This involves chewing and grinding food materials into smaller participles. During chewing and grinding of food materials, your saliva mixes with the ingested material to aid in forming a cohesive “bolus” that can be easily swallowed. Once the bolus is formed, muscles of the tongue work to push the food/liquid from the front to the back of the mouth and towards the throat.

At this time, it is important for the lips to tightly close or seal off the mouth and for the muscles of the roof of the mouth (soft palate) to close off the entrance to the nose (nasal cavity). This ensures that food and liquid are directed into the throat and ensure that it does not escape out of the mouth or the nasal cavity.

Pharyngeal Stage: Once the ingested materials pass the tonsils, the pharyngeal stage of swallowing begins and the swallowing process becomes involuntary (not under your conscious control). The cylindrical throat muscles squeeze to help push the food from the upper throat, through a ring muscle at the bottom of the throat surrounding the opening of the food pipe (medical term: sphincter), into the food pipe (medical term: esophagus).

During this stage of swallowing, entrance to the airway (medical term: trachea) is protected by a flap of cartilage called the epiglottis. This flips over (down) during the swallow to route food/liquid away from the airway and towards the stomach and has often been referred to as the “guardian angel” of the airway. Two additional barriers occur during this stage to protect your airway, consisting of the closure of both the false and true vocal folds at the entrance to your trachea or airway.

Esophageal Stage: The ring muscle that divides the throat from the entry to the food pipe (medical term: Upper Esophageal Sphincter or UES) is usually closed to prevent 1) air from entering the stomach and 2) previously ingested food and liquid materials from coming back up into the throat (reflux or regurgitation). This sphincter briefly opens or relaxes during the swallow and at the start of the esophageal stage to allow both food and liquid to enter the food pipe (Figure 1). Once food or liquids enter the esophagus, or food pipe, a contraction of the muscle helps to move the food from the top to the bottom of the pipe (21-27 cm in length) and into the stomach.

Sphincter Weakness

Many of us living with Kennedy’s Disease (KD) experience swallowing difficulties - especially later in life. Today, in the KDA Forum, a question was asked about Achalaisa, and whether it is associated with Kennedy’s Disease.

I have not been diagnosed with Achalaisa, but I was told my lower esophageal sphincter muscle is not working properly causing several issues with swallowing and choking. The doctor associated the weakened muscle with KD.

I was told to change my eating habits to minimize the impact of the weakened sphincter muscle on my swallowing. The recommendations include:

1. Stop smoking.
2. Avoid foods or beverages that give you heartburn.
3. Drink plenty of fluid when eating.
4. Chew your food well.
5. Eat more frequent, smaller meals.
6. Avoid eating for three hours before you go to bed.

I also was given some swallowing exercises that I practice daily that seem to help.

The ALS Association has published a good resource on this subject. ALS Manual on swallowing and choking. It is a PDF.

A Crispr Conundrum

I am trying to keep up on the evolution of CRISPR and its possible performance in curing or treating Kennedy's Disease and other progressive neuromuscular disorders. Here is the latest from The New York Times. To read the entire article, click on the link above or the heading below.

A Crispr Conundrum: 

How Cells Fend Off Gene Editing

Human cells resist gene editing by turning on defenses against cancer, ceasing reproduction and sometimes dying, two teams of scientists have found.

The findings, reported in the journal Nature Medicine, at first appeared to cast doubt on the viability of the most widely used form of gene editing, known as Crispr-Cas9 or simply Crispr, sending the stocks of some biotech companies into decline on Monday.

Crispr Therapeutics fell by 13 percent shortly after the scientists’ announcement. Intellia Therapeutics dipped, too, as did Editas Medicine. All three are developing medical treatments based on Crispr.

But the scientists who published the research say that Crispr remains a promising technology, if a bit more difficult than had been known.

“The reactions have been exaggerated,” said Jussi Taipale, a biochemist at the University of Cambridge and an author of one of two papers published Monday. The findings underscore the need for more research into the safety of Crispr, he said, but they don’t spell its doom.

“This is not something that should stop research on Crispr therapies,” he said. “I think it’s almost the other way — we should put more effort into such things.” ...

... A team of scientists at the Novartis Institutes for Biomedical Research in Cambridge, Mass., got similar results with a different kind of cells, detailed in a paper also published Monday.

They set out to develop new versions of Crispr to edit the DNA in stem cells. They planned to turn the stem cells into neurons, enabling them to study brain diseases in Petri dishes.

Someday, they hope, it may become possible to use Crispr to create cell lines that can be implanted in the body to treat diseases.

When the Novartis team turned Crispr on stem cells, however, most of them died. The scientists found signs that Crispr had caused p53 to switch on, so they shut down the p53 gene in the stem cells. ...

...“We should definitely be cautious,” said George Church, a geneticist at Harvard and a founding scientific adviser at Editas.

He suspected that p53’s behavior would not translate into any real risk of cancer, but “it’s a valid concern.”

And those concerns may be moot in a few years. The problem with Crispr is that it breaks DNA strands. But Dr. Church and other researchers are now investigating ways of editing DNA without breaking it.

“We’re going to have a whole new generation of molecules that have nothing to do with Crispr,” he said. ...

Is it time to Remodel?

I read on Facebook the other day that someone was planning on remodeling their bathroom to accommodate their needs. This brought to mind something I wrote in the past on the subject, and I updated it below.

The top ten reason for wanting to remodel (a humorous approach):

1. You are tired of peeing in a cup and bathing with wet wipes.
2. Grab bars – what a concept. I wish I had thought of that.
3. You are home alone. The blinds are shut, the lights are off, the heat needs adjusting, the TV remote was left on the floor; and you cannot reach any of them.
4. Your carpeting has enough embedded tracks in it for a railroad.
5. Who really knows what secrets lurk on the upper level of your home? You have never seen it.
6. You cannot remember what the back yard looks like, but they tell you it is nice.
7. In case of fire, common sense says you need more than one accessible exit from your home.
8. There’s not enough putty compound in the world to fill the gashes in your hallways and doorways from the wheelchair.
9. Your seasonal clothes and hobby supplies disappear in the black hole of your attic because you have no accessible storage space.
10. Water runs down your armpits every time you wash your hands because the sink and counters are too high.

Move or Improve? That is the question.

People remodel because they love their home or their neighbors or they are close to family and friends. Home improvements are usually a sound investment (up to a point). For example, a report states that the return rate on a remodeled bathroom is 88%. The rule of thumb is “don’t spend more than 5% of your home’s value on remodeling any one room. However, most people with a neuromuscular disease are more concerned about safety and accessibility than resale value.

Wheelchair accessible homes are few and far between. There are not a lot of them out there and normally people do not advertise them as such for concerns that others buyers will not be interested.

Consult with and hire professionals

If you are thinking of building or a major remodel, consult with an expert(s). Occupational Therapists  (OT) are very helpful in determining your needs today and into the future. If you have a progressive disorder, never, I repeat - never, attempt to remodel to satisfy your current needs. Your OT can help you look out three to five years and determine what is needed today and in the future. 

Once you have an idea of what is needed, architects can offer more ideas about design, space and what is available. Architects interpret your wishes into technical terms for the contractor to follow.

Seek out others who have recently remodeled

Word of mouth recommendations are gold. Discuss 'dos and don'ts' and lessons learned with others who have previously remodeled. Kennedy's Disease on Facebook, the local MDA and ALS organizations, and friends who have friends are excellent resources for this. They have first hand experience as to what worked, what they would do differently had they known, and other gems of information.

 

Guidelines for hiring a contractor

Once you are ready, take your time and find a contractor you feel comfortable with. Once again, word of mouth recommendations from others you know are helpful. Look for contractors who have experience in handicap renovations and additions. Ask to see photos of some of their work to gain and idea of what type of renovations they perform and the quality of the work.

Some contractor guidelines.

• Consult with at least three contractors about your plans. Check their licensing, insurance, and credentials online and with your state’s registrar of contractors and the Better Business Bureau.
• Get bids and detailed breakdowns of costs and time in writing from all three contractors. Typically, the mid-range bid is your best bet.
• Be ware of contractors who supply only out of town references, present tight time pressures or promise completions that seem unrealistic.
• Pay only in stages. Never give 100% up front (or even a hefty deposit up front. Deposits are typically 10%. Always hold back money based on the stage of completion because it is your only leverage.
• Both you and the contractor should sign and date a written contract including the work details, materials specified (with substitution requiring a written approval), payments and dates, and the completion date. Do not sign a completion statement and give the final payment until a full inspection is completed by yourself and a building inspector.
• Be aware that suppliers and sub-contractors can place a lien against your property. To protect yourself, add a release of lien clause to your contract or ask for proof of payments by your contractor.

Common Courtesy - Interacting with a disabled person

I remember back when I did not have any physical disabilities. I never really thought too much about some of the points made in the article below. As my Kennedy's Disease progressed, several times I found myself in a position that I needed hel. Some of the kindest people are often strangers that I met once and will probably never meet again. Regularly, I find that a single act of kindness at a moment of need is remembered for years.

The below article was published on the “How to of the Day.” To read more, please follow the link below.

How to Interact With People Who Have Disabilities

It's not uncommon to feel a bit uncertain talking to or interacting with someone who has a physical, sensory or intellectual disability. Socializing with people with disabilities need be no different from any other interactions. But, if you're not familiar with a given disability, you might fear either saying something offensive or doing the wrong thing by offering assistance. Here are some dos and don'ts to keep in mind.

1. Realize that disability is universal. Think about the friends or family members you know with disabilities. Perhaps they have arthritis or other physical limitations and are unable to walk up stairs. Perhaps they have a hearing problem, or are on a special diet due to diabetes. Disability of one kind or another is something that we all experience personally in life, eventually. Thus, we will all have times when we need a little help and understanding.

2. Learn from people in your life. If you are able to be considerate of the people you know, you will also be able to do the same for strangers. Ask the people you know how they feel, what they prefer, how they react to situations, and take your cues and lessons from them. You can use the same lessons with strangers.

3. Understand that most people with disabilities have adapted to them. Some disabilities are present from birth, and others come later in life due to accident or illness, but either way, most people learn how to adapt and take care of themselves. Most are independent in everyday living, but that does not mean they might need help at certain times.

4. When people develop disabilities later in life, it may require lots of adjusting on their part. Things that they were able to do naturally now require adaptation and patience, and there are some things they may never be able to do without assistance or assistive technology. They may need help for tasks they once did without thought. But none of this means that they can't adapt to a new way of life, and as such, while they may require your support, they do not need your pity.

5. Put yourself in their position. Don't focus on the disability. It is not important that you figure out what their particular problem is; it is only important that you treat them as an equal, talk to them as you would to anyone else, and act as you would normally act if a new person entered into your life.

6. Don't be afraid of asking what disability a person is dealing with if you feel this might help you make a situation easier for them. For example, if a person has difficulty walking, ask them if they would prefer to take the elevator instead of the stairs. Chances are, they have been asked that question a million times, and they know how to explain it in a few sentences. If the disability resulted from an accident or the person finds the information too personal, they will most likely answer that they prefer not to discuss it.

7. Ask if you can be of assistance to them, as appropriate. Never act as if you have not noticed them. Ask if you can help, but do not insist on it if they tell you they do not need help.

8. Avoid getting in the way. Move out of the way when you see someone attempting to navigate in a wheelchair. Move your feet out of the path of someone who is using a cane or a walker. If you notice that they might not be strong and steady on their feet, offer to help, but do not invade their personal space.

9. Unless asked to do so, do not touch their wheelchair or any aid device including guide, hearing or seeing-eye dog without asking.

10. Be patient. For example, if the person in front of you is slowly walking down the stairs, do not mutter under your breath or sigh deeply. Show the same kind of patience that you would want in their shoes.

11. Teach your children to be kind and understanding. Take a zero tolerance policy on laughing at someone who might look strange or funny to them. Teach them that all people have feelings, just like they do, and that they should accept their differences without judgment. It's okay for children to be curious and ask you discrete questions about disability.

12. Remember that people are, first and foremost, people. Offering help to someone with a disability should come from kindness, not a sense of pity or a perception of weakness. Seek to help others, and if you find yourself being offered help, regardless of whether you have a disability, accept it gratefully, with a smile and a thank you. Be respectful, above all else.

To read the entire article, follow this link: Interacting with People with Disabilities

Courage

“Courage is not having the strength to go on;

it is going on when you don’t have the strength.”

I reread the above quote from Theodore Roosevelt this morning. It rings true and is a positive reminder for me.


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.

I have a friend living with Kennedy’s Disease who has experienced several strokes over the last few years. He has partial paralysis on his left side including his throat. Speech is now difficult and limited to short conversations. The hands struggle to perform basic functions. Walking, and even transferring, is out of the question. Yet, he is always upbeat and positive about life. He enjoys spending time with his family and friends. And, he always finds a way to lift the spirit of others.

We all know people like this and even some 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.

My recent slide, fall, and its extremely slow recovery challenges my faith and courage. When I have the occasional lapse and my attitude slumps, I just think of these friends for a needed adjustment. How can I wimp out when they didn’t?

Photo: Schuitema - Human Excellence Group

Leave Your Pride at the Door

 

While considering a topic for my blog, the word COMPENSATE came to mind. One of the definitions of compensate is “make up for (something unwelcome or unpleasant).”

The other word that comes to mind is LEVERAGE. One of the definitions of leverage is “use (something) to improve or maximize your advantage.”

All of us living with Kennedy’s Disease have become familiar with these two actions. Early on, it wasn’t difficult to hide the onset of certain symptoms. As time marched on, however, it became more difficult to compensate for the eroding muscle strength and errant firing of the motor neurons. That is when leverage became more important.

At some point, we start using a cane or walking stick (leverage). As the condition progressed, the danger of falls became more evident. We slowed our gait (compensate) and fatigue became an issue. Later, when walking became a safety issue, we began using a scooter or wheelchair (compensate). As the arms, shoulders, hands and fingers weakened, we found tools to help (leverage), or utilized exaggerated movements to help perform even simple tasks (compensate).

It is said, “Necessity is the mother of invention.” Through the years, those of us living with Kennedy’s Disease have found ways or invented things to help compensate for, or leverage something, to help us remain mobile and as self-reliant as possible. I am amazed at all the ‘tools’ that have been re-purposed so that we can continue to live a productive life.

Then, there also comes a time where we have to swallow our pride and ask for help. By asking, we again compensate for the loss of our ability to perform a certain function. Fortunately, there are plenty of good people in this world.

For those of us living with Kennedy’s Disease, we should have a sign in our bathroom saying, 

“Leave your pride at the door. 

Everyone needs help at some time.”

Please, stay upright and stay safe.

Forming Good Habits

Living with Kennedy's Disease and its progression is never easy, but I try to make it as comfortable as possible by eliminating bad habits and creating good ones.

Often, someone mentions he or she is not as disciplined as I am. The person wishes they could find the time to exercise regularly … or quit smoking … or lose weight … or meditate … whatever. My standard response is, “If I didn’t believe it helped, I probably wouldn’t do it.” 

I find it easier to maintain a habit when I see or feel results. In the case of exercising every day, I see and feel the results. When it comes to eating healthier foods, I feel the results.

Just as important, I find it easier to change a negative habit when I can see or feel the results. For example, I quit smoking over 40 years ago because I saw and felt the negative aspects of what smoking three packs a day had upon my life and my family. I quit ‘one cigarette at a time’.
 

When I begin to change a habit, I often do not see or feel the beneficial results initially. At that point, I am working on faith. I believe the change will be positive in some way. For example, a few years ago I gave up eating ice cream every day. I had been indulging in this habit for over 50 years. My belief was that I would generate less phlegm by eliminating this milk product from my diet.

I did not initially say, “I will never eat ice cream again.” I told myself each time I wanted ice cream that I would wait an hour and if I still wanted it then, I would have a bowl.” Guess what? In an hour, I was doing something else and did not even think about it.

After a few weeks, there was a noticeable reduction in thick phlegm. In the last couple of years, I have given up or greatly reduced phlegm-generating products. 

 

I continue to do every habit, no matter what it is, one day at a time. If I ever feel an overpowering desire to break a habit, I will do it after I have waited an hour.