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.

Swim Training Improves Muscle Function in Mouse Model of ALS, Study Shows

I know of several men with Kennedy's Disease (SBMA) who expressed how good they felt and how much better/safer their exercise routine is in the pool. I never tried it. Below is an article on the benefits of swim training in mouse models with ALS. Clink on the header below to read the entire article or go to the bottom of this page and follow the link to the actual published report.

Swim Training Improves Muscle Function in Mouse Model of ALS

... Findings revealed that ALS mice had reduced muscle strength (70% less between 11 and 15 weeks), and showed significant alterations in energy metabolism (30% less citrate synthase activity, and higher activities of cytochrome c oxidase and malate dehydrogenase), and high levels of oxidative stress markers compared with controls.

However, swim training reduced the loss of muscle strength associated with ALS (5% less between 11 and 15 weeks), and increased citrate synthase activity by 26% compared with ALS mice that did not undergo swim training.

According to previous studies, swim training prolongs the lifespan of ALS mice by 10% to 13%. However, “from a clinical point of view, not only prolongation of lifespan, but also sustained functionality and inhibition of muscle waste are critical elements of therapy,” the study said.

“In agreement with previously published data, swim training significantly decreases the reduction in muscle strength clearly visible at the symptomatic stage of ALS, . . . reduces oxidative stress, and improves muscle energy metabolism at terminal stage of the disease,” the researchers stated.

“Our findings indicate that swim training is a modulator of skeletal muscle energy metabolism with concomitant improvement of skeletal muscle function in ALS mice,” they concluded.

Here is the link to the report on the study:  https://www.mdpi.com/1422-0067/20/2/233/htm

Patient trial shows impressive clinical results

The following article is from The Florey. A few people have commented that this might be helpful for Kennedy's Disease, SBMA. I am not an expert, but KD impacts the lower motor neurons. Lung function and cognitive ability are not normally affected. ALS is both an upper and lower motor neurons disorder. Lungs are affected. The drug trial mentioned appears to help upper motor neurons.

Motor neurone disease breakthrough: Patient trial shows impressive clinical results

A new drug delays motor neurone disease progression and improves cognitive and clinical symptoms. The latest trial results were announced by a spin-out company from the Florey and University of Melbourne, Collaborative Medicinal Developments.

Research at a glance:

The copper-delivery drug CuATSM improved symptoms in MND patients over six months

Improvements were seen in lung function and cognition. Decline in motor disability was reduced in treated patients compared to standard-of-care patients. The researchers will begin a larger Phase 2 trial to confirm CuATSM’s effectiveness in motor neurone disease. 

A new drug developed by scientists at the Florey Institute of Neuroscience, and the School of Chemistry and Bio21 Institute at the University of Melbourne has dramatically improved clinical and cognitive symptoms of motor neurone disease, also called amyotrophic lateral sclerosis.

This is the first human evidence for a disease-modifying drug for motor neurone disease. It is a huge breakthrough, and we look forward to confirming the positive results in a larger study soon

Motor neurone disease is a progressive, fatal neurodegenerative disease. Its key hallmark is the death of the brain cells that control muscle movements. This results in muscle weakness and eventually paralysis. Patients usually die of respiratory failure within three years of diagnosis, and there are no treatments or disease-modifying therapies available.

In this dose-finding trial involving 32 patients, the group given the highest amount of the CuATSM compound showed improved lung function and cognitive ability, compared to the predicted declines observed in standard-of-care patients. Further, treated patients showed a much slower overall disease progression as measured by a global disability score.

Professor Ashley Bush, Chief Scientific Officer of Collaborative Medicinal Development and director of the Melbourne Dementia Research Centre, said “This is the first human evidence for a disease-modifying drug for motor neurone disease. It is a huge breakthrough, and we look forward to confirming the positive results in a larger study soon.” 

Associate Professor Kevin Barnham of the Florey, Associate Professor Anthony White at the Queensland Institute of Medical Research, and Professor Paul Donnelly and Associate Professor Peter Crouch from the University of Melbourne, developed and tested CuATSM over a 15-year period. After showing its therapeutic potential for motor neurone disease in pre-clinical models, the researchers founded a company, Collaborative Medicinal Development, to take the drug into human studies. 

Professor Donnelly said, “It is gratifying to see such promising results made possible by collaborative fundamental research at the interface between chemistry and biology.” The results were reported at the 29th International Symposium on ALS/MND in Glasgow by Dr Craig Rosenfeld, CEO of Collaborative Medicinal Development.

The researchers plan to begin enrollment for a larger, randomised, placebo-controlled double-blind Phase 2 trial in mid- to late 2019. This trial will test CuATSM’s effectiveness in motor neurone disease / amyotrophic lateral sclerosis in a larger patient sample.

Researchers Find New Gene That May be Involved in SBMA

The below article was posted by Catarina Silva in SMA News Today. It is a preliminary study that could lead to further research in this particular area. You can read the entire article by clicking on the link below.

Researchers Find New Gene That May be Involved in Spinal and Bulbar Muscular Atrophy Development

"...DHT did not increase SBMA cellular/genetic changes. However, the team found that several genes involved in the regulation of important neurological processes were dysregulated in SBMA spinal motor neurons upon treatment with DHT.

Among these, the FAM135B gene was reduced by more than 10,000-fold in SBMA spinal motor neurons when compared to healthy cells.

Interestingly, this gene was present at low levels in iPSCs derived from either SBMA or healthy individuals. Its differential expression was only observed once these cells became spinal motor neurons, leading researchers to hypothesize that “this gene plays a functional role in supporting sMN [spinal motor neurons] growth and survival.”

To investigate the functional role of this gene in SBMA, the team genetically engineered healthy spinal motor neurons to express lower levels of FAM135B (similar to what was observed in SBMA spinal motor neurons).

The results revealed a decrease in neuronal projections’ length and spinal motor neurons’ survival, suggesting a specific role for this gene in SBMA.

Interestingly, low levels of FAM135B were not observed in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) iPSC-derived spinal motor neurons, indicating that this differential gene expression pattern is unique to SBMA.

“To date there have been no detailed studies that define a role of FAM135B in the nervous system,” researchers said.

“Future work could be focused on detailed investigation of the role of FAM135B in SBMA. With FAM135B proposed to play roles in neuronal survival, growth and maintenance of structural integrity, it could be speculated that an upregulation of which in [spinal motor neurons] could potentially [reverse the disease-related neuronal changes],” they concluded."

Helpful Resources Available

This is a rewrite of any earlier article concerning a series of manuals available for those of us living with a progressive neuromuscular disorder like ALS and Kennedy’s Disease. The resources are available on the ALS Association website.

I explored most of the manuals and found some of the information relevant and potentially useful for those of us with SBMA. The links below are for the PDF version of the manuals.

Functioning When Mobility is Affected by ALS

Some of the topics addressed include:

• Physical and Occupational Therapy 
• Bone, Muscle, and Joint Problems 
• Mobility Equipment 
• When is it time to get a wheelchair? 
• What types of wheelchairs are available? 
• Power Wheelchairs 
• Types of Seating Equipment Used with Wheelchairs 
• Transfers without Equipment 
• Transfers with Equipment 
• Activities of Daily Living (ADL) 
• Home Adaptations 
• Ramps 
• Stair Lifts (Chair Glides) 
• Other Suggestions for Adapting Your Home 

Adjusting to Swallowing and Nutritional Management

Swallowing and choking, at some point in the progression of Kennedy’s Disease, can become an issue. Some of the topics addressed include:

• What should you do if muscle weakness affects your eating habits? 
• What can you do to control your saliva? 
• What should you eat to maintain a balanced diet? 
• Why should fiber be included in your diet? 
• How many and what kind of fluids should you drink regularly? 
• What is the most appropriate weight for you? 
• How can you increase your intake of protein and calories? 
• Do you need to change the consistency of the food you eat?

  

After the ALS Diagnosis: Coping with the “New Normal”

Some of the topics addressed include:

• Coping with the Diagnosis 
• Coping in Your Mind 
• Acceptance 
• Self-survival 
• Feeling Different and Isolated 
• Intimacy and Sexuality 
• Coping with Life 

Changes in Speech and Communication Solutions

Some of the topics addressed include:

• What can you do if your speech sounds slurred? 
• Tips for Speaking Difficulties 
• What can you do if other people have difficulty understanding your speech? 
• What types of aids are available to help you access computers? 
• Where can you find funding for these devices?

Using CRISPR to Edit Genes

I have written about CRISPR gene editing several times over the years. I can see  it someday removing the defective CAG repeats in Kennedy's Disease.

Last night, there was a CBS program ’60 Minutes’ featuring CRISPR. The segment was well done. It broke down the actual process to understandable bites of information.

If you missed the program, you can read about it and watch most of it on 60 Minutes Overtime.

I was impressed to learn 2,300 labs across the globe are currently experimenting with CRISPR. And, they have used it to correct a genetic disorder that causes blindness (mouse models only). There is the first U.S. clinical trial using CRISPR for patients with a certain cancer. I also found it interesting that scientists have to consider what could be any unexpected results of correcting the defective DNA.

Below are excerpts of the CBS article:

“Scientists are excited about using CRISPR to treat genetic disease, but the devil's in the details.

Take, for example, treating cystic fibrosis. Scientists know that the hereditary disease is caused by the misspelling of a particular gene. Genes are made up of DNA, which is composed of chemical bases abbreviated by the letters A, T, G, and C. A genetic mutation that causes a disease like cystic fibrosis reads like a typo in the genetic instructions. If scientists can identify the typo, they can program CRISPR to try to correct it with the right sequence.

This week on 60 Minutes, correspondent Bill Whitaker reports on the gene-editing tool. Feng Zhang, a molecular biologist at the Broad Institute of MIT and Harvard, who has been working on CRISPR for seven years, explains how it works.” ...

"You can understand why I want to say, 'It's amazing,' and you also have to be careful and every single cure is going to take a lot of people working together to deliver it," Lander tells Whitaker in the video above. "But you couldn't have imagined such a cure. It wasn't even on your to-do list before CRISPR." ...

"Preventing disease, I think, is a little more complicated because it depends on how we're trying to prevent the disease. Some of them may have undesirable side effects that we don't fully understand," he explains in the clip above.”

Creatinine Biomarker in SBMA

On April 11, SMA News reported the results of a three-year study on biomarkers that can spot neurodegenerative disorders before symptoms appear in conditions like Kennedy's Disease. 

Muscle Waste Product Creatinine Might Be Used as SBMA Biomarker, Study Reports

Yasuhiro Hijikata, Atsushi Hashizume, Shinichiro Yamada, Tomonori Inagaki, Daisuke Ito, Akihiro Hirakawa, Keisuke Suzuki, Naoki Atsuta, Takashi Tsuboi, Makoto Hattori, Akihiro Hori, Haruhiko Banno, Gen Sobue and Masahisa Katsuno
 

“Blood levels of a waste product from muscle metabolism could be used to see how spinal and bulbar muscular atrophy (SBMA) develops before symptoms appear, a Japanese study reports.

The research on the waste product, creatinine, appeared in the journal Neurology. The title of the article is “Biomarker-based analysis of preclinical progression in spinal and bulbar muscular atrophy.”

Scientists have been trying to find biomarkers that can spot neurodegenerative disorders before symptoms appear. The work has led to promising biomarkers for Alzheimer’s and Huntington’s disease.

But little research has been done on biological changes over time that occur before neurodegenerative disease symptoms show up. SBMA is a neurodegenerative disease caused by a mutation of the androgen receptor gene.

The Japanese researchers had previously reported a link between levels of the creatinine that kidneys secrete to the blood and the severity of movement problems once SBMA symptoms appear. But the team had not looked at how creatinine levels change before symptoms show up.

They wondered if tracking changes in biochemical levels and body measurements before SBMA symptoms appeared could shed light on how it develops. They focused on changes before and after the start of patients’ muscle weakness.

The team used statistical methods to predict changes in disease markers. Then they compared the forecasts with changes in healthy men and in ALS and Parkinson’s patients. In addition, they analyzed the link between patients’ creatinine blood levels and the start of their symptoms.

Their study between October 2014 and October 2017 involved 40 men with SBMA, 25 with ALS, 20 with Parkinson’s, and 48 healthy controls. The SBMA patients, whose bulbar and limb muscles had weakened, were followed for a mean of 17.3 years, including 11.4 years before symptoms appeared. …”

Click here to continue reading the rest of the article

Growing old with Kennedy's Disease

When initially diagnosed with ALS, I was devastated. I could live five years—perhaps ten if I was fortunate. When Dr. Fischbeck later correctly diagnosed me with SBMA, I felt I had a new lease on life. Then, the fears and paranoia showed up again. I was my own worst enemy. 

One thing I noticed while living with forty years of progression of Kennedy's Disease was that what negatively affected me (mentally and emotionally) in my late twenties and thirties is not a concern today. Most were unfounded fears of what could be, not what was. What I thought was earth shattering back then is something that I live with every day, and most often do not even consider today. In other words, I have matured with the disease and discovered more about it and about me.

In the beginning of my battle with this disease, I feared the worst and hoped for the best. I told little 'white lies' when asked if anything was the matter. Admitting I had the disease was something out of the question—especially at work. I looked at it as a weakness, something that will make me less of a husband, father, manager, and co-worker. Today, I realize that the real weakness was my inability to be honest with others and myself. Life would have been far simpler.

I now know living with the disease is never as bad as what I imagined. And, in some ways, it is worse. The most difficult part about living with the disease today is seeing how far my strength has deteriorated over forty years. The most satisfying part is knowing I am still active, engaged, enjoying life and helping others.

Today, "safety is job #1." When I am injured, I am not the only one that suffers. My wife has to change her life to accommodate my injury. That is why I error on the side of caution.

The Serenity Prayer, "God grant me the serenity to accept the things I cannot change (i.e., Kennedy’s Disease diagnosis), the courage to change the things I can (i.e., my bad habits, outlook,  attitude and patience), and the wisdom to know the difference." 

In closing, I leave you with my last and probably my most important learning. People are there for you when you need them.

Image: lawrenceofcyberia.blogs.com

Photo:  Trip Adviser                               

Disability; How to Apply for

Notes:
1. Even though the process will be different in other countries, I believe the principles and suggestions will apply to any process.]
2. This is a long article. Consider printing it and filing it with other related information.

Depending upon the type of work you do, at some point you might need to consider retiring because of safety issues and/or inability to perform your assigned tasks.

Social Security – Disability (SS-D) is important to many of us in the United States who are forced to retire early because of health related issues. A few years ago, I wrote a 'guide' for applying for SS-D based upon my experience. Since the guide is twenty pages long, in this post I will try to focus on the ‘key learnings' that might make the process easier for you if you ever need to apply. There is a link to the PDF guide at the bottom of this article.

How SS-D works: It is important that you understand how Social Security defines 'disability'. That is because other programs have different definitions for disability. Some programs pay for partial disability or for short-term disability. Social Security does not. Disability under Social Security is based on your inability to work. You will be considered disabled if you cannot do work you did before and they decide that you cannot adjust to other work because of your medical condition(s). Your disability also must last or be expected to last for at least a year or will result in death.

• Note: Progressive disorders are different and this is why you need to work with your doctor and your Social Security representative in order to explain the gradual and continual loss of certain functions. 

Here is how to make the process work for you

I know you can apply on-line, but I do not recommend it. You have a story to tell and someone needs to hear it. For my reasoning, see “Educate the Reviewer” and “Tell your Story” below. You do not want to be a name on a form. You want someone to associate your face, personality, and capabilities with your condition.

A doctor who reviewed disability claims for a Fortune 100 company gave me the following advice on the disability application process.

Start the process early. Do not wait until you are totally disabled before beginning the process.

Be patient. The process takes time. It is not uncommon to wait 90-120 days before hearing the results of the application.

Fill out the forms completely. The disability process is no different from any other application process (e.g., home loan, employment, etc.). Provide explanations for terms used. Leave little to interpretation.

Remove your emotions from the process. Think of it as a business deal – your business. Learn the rules of the game and make the rules work for you. The 'red-tape' and follow-up letters asking for additional information are all part of the game.

Understand how the forms are written. The disability process is written for people with a sudden illness or disability – not for people with progressive illnesses where there is no treatment or cure.

Understand the process. Remember that the Social Security Administration is a government agency. Applications are denied the first time if insufficient information is there to make your case. 

Other comments on SS-D 

Document everything. The more information and details you can provide up front, the smoother the process will go.

Provide a history of the progression. You have been living with this condition for years. Include falls, injuries, hospitalizations, problems with performing certain tasks, etc.

Educate the reviewer. Do not expect the reviewer to understand Kennedy's Disease or your specific situation. The reviewer can be an excellent advocate if he/she understands Kennedy's Disease and your specific disabilities in regards to work. Give the person all the information they need to understate your condition. As much as possible, relate symptoms and progression to other similar conditions that are more recognizable, i.e., ALS, Muscular Dystrophy, and Huntington’s Disease.

Preparation is the key. The more prepared and organized you are, the better the chance for approval. (For example, I was approved in six weeks)

Make it easy for others. Below are several comments on how to help ease the reviewer (and others) through your disability application process. The easier it is for them, the easier it will be for you, and the better chance for approval.

Employer: Discuss your intentions with Human Resources and your manager or supervisor. Ask for their support. You do not want them to be surprised when a Social Security representative contact them asking for information.

Neurologist: Advise your doctor(s) and his/her staff that you are applying for Social Security-Disability benefits. Ask the doctor(s) for his/her support. Review (preferably in written form) your current symptoms and any health-related issues that affect your ability to perform your current duties.

Initial submission: Provide the reviewer with as much information as possible. The more information the reviewer has to work with initially, the less information he/she has to write off for – meaning a delay in the process. The more information requested by the reviewer, the greater the chance the doctor's office will not be able to find it and/or it will be delayed.

Tell your story: Control the information flow. The most important information should be in the front. Sections should be tabbed and key statements/information highlighted so the reviewer can easily find the critical information he/she needs to make a decision. 

Use the 'Supplemental Section' to educate the reviewer: The reviewer probably has never heard of SBMA. Tell them about Kennedy's Disease, its symptoms, its treatment, etc. There are excellent articles on the KDA website and on the internet that explain the disease to a layman.

Provide the information in a 'report' format: Tabbed, with sections, page numbers, a table of contents, etc. - so the reviewer can easily locate the information he/she is looking for. I submitted a three-ring binder. Keep a duplicate three-ring binder of all the submitted information. This will keep all of your information in one place and easy to find.

Review before submitting: Dot the i’s and cross the t’s: Be sure to sign and date all the forms. Have someone else review the submission to make certain they understand it and can find the information needed. 

A Few More Suggestions 

• If called, refer to the information needed by section and page number so the reviewer can easily find what he/she is looking for. 

• Take your binder with you to any reviews or hearing. 

• Be patient and responsive to follow-up inquiries by the reviewer. 

• Follow-up with your doctor, H.R. and supervisor to insure they provided the requested information. I asked for copies of their submissions and added them to my binder. 

How long does the process take? Plan on 60 to 90 days. It generally takes longer to process claims for disability benefits than other types of Social Security claims. You can help shorten the process by bringing certain documents with you when you apply and helping the SSA to get any other medical evidence they need to show you are disabled. The points mentioned below will help shorten the process. 

Be prepared to provide:

• Your Social Security number and proof of age 

• Names, addresses and phone numbers of doctors, hospitals, clinics and institutions that treated you and dates of treatment 

• Names of all medications you are taking 

• Medical records including test results from your doctors, therapists, hospitals, clinics and caseworkers 

• Your work history. A summary of where you worked and the kind of work you did 

• A copy of your W-2 Form (Wage and Tax Statement), or, if you are self-employed, your federal tax return for the past year 

• Family information including names and dates of marriages and your children’s births. 

Do not become frustrated. It is not uncommon to be denied the first time. If that happens, schedule a meeting with your local Social Security Representative to review your application and ask for their opinion why the application was denied. Try to remove your emotions from this discussion. It is easy to become frustrated and start blaming the system or others, but it will not speed up the process. Work with your representative to resolve any known issues with the application or concerns with your claim. The representative can be a great advocate. Then, file an appeal.

To learn more about the application process, contact your local Social Security Administration office, by going online to (http://www.ssa.gov/disability/) or, by calling 1-800-772-1213.

The PDF guide I wrote can be found here: https://www.kennedysdisease.org/images/stories/PDFs/Social_Security-Disability.pdf

I hope this brief post helps to explain the process and some key 'learnings' based upon my experience. Should you have additional questions or comments, please don’t hesitate to contact me.

I found the link to this article on the Kennedy’s Disease DownUnder Facebook page. You can read the entire article by clicking on the Title below. The ability to reproduce motor neurons that are the age of the patients could be helpful in studying the progression as well as potential treatments.

Scientists create new motor neurons out of skin cells

“… Scientists have converted human skin cells from adults directly into motor neurons without going through a stem cell state.

Motor neurons drive muscle contractions, and their damage underlies devastating diseases such as amyotrophic lateral sclerosis and spinal muscular atrophy, both of which ultimately lead to paralysis and early death. Scientists working to develop new treatments for neurodegenerative diseases have been stymied by the inability to grow human motor neurons in the lab.” …

“… The new technique makes it possible to study motor neurons of the human central nervous system in the lab. Unlike commonly studied mouse motor neurons, human motor neurons growing in the lab would be a new tool since researchers can’t take samples of these neurons from living people but can easily take skin samples.

Avoiding the stem cell phase eliminates ethical concerns raised when producing what are called pluripotent stem cells, which are similar to embryonic stem cells in their ability to become all adult cell types.” …

Importantly, avoiding a stem cell state also allows the resulting motor neurons to retain the age of the original skin cells and, therefore, the age of the patient. Maintaining the chronological age of these cells is vital when studying neurodegenerative diseases that develop in people at different ages and worsen over decades.

“… In this study, we only used skin cells from healthy adults ranging in age from early 20s to late 60s,” says senior author Andrew S. Yoo, an assistant professor of developmental biology at Washington University School of Medicine in St. Louis. “Our research revealed how small RNA molecules can work with other cell signals called transcription factors to generate specific types of neurons, in this case motor neurons. In the future, we would like to study skin cells from patients with disorders of motor neurons. Our conversion process should model late-onset aspects of the disease using neurons derived from patients with the condition.” …

“…The ability of scientists to convert human skin cells into other cell types, such as neurons, has the potential to enhance understanding of disease and lead to finding new ways to heal damaged tissues and organs, a field called regenerative medicine. …”

Another Robotic Suit

Well, actually, it is the latest version of a company’s exoskeleton.

I just read the article and saw the video on YahooNews. I went to the ReWalk website and learned more about it. It says that ReWalk is the first exoskeleton to receive FDA clearance for personal and rehabilitation use in the United States. Then I noticed that the Stair Function is currently not available in the United States.

It appears to be designed for spinal cord injuries. It also mentions rehab for stroke victims and people with Multiple sclerosis. Yet, in the FAQ Section, it mentions that people with ALS, Cerebral palsy, Traumatic brain injury, etc. can use it. So, it might be something for those of us living with Kennedy's Disease.

ReWalk has over eighty training centers in the United States and hundreds more throughout the world. I don’t know what it costs, but it appears some insurance companies and the V.A. are using it for rehab purposes.

It appears there are three different units. I grabbed this from the article. "The lightweight, small, wearable suit is much simpler than ReWalk’s device that enables paralyzed patients to stand, walk and navigate stairs. Unlike the ReWalk 6.0, which includes robotic leg attachments that can weigh nearly 50 pounds, the soft exoskeleton looks more like the harness construction workers wear for safety than a bionic system. It consists of a waist belt fitted with a motor and battery, flexible cables that transmit power from the motor to the ankles, leg braces and shoe sensors. And it’s all activated by the flick of a switch.

ReWalk has not yet determined how much the soft-exoskeleton suit will cost, but says it will be more affordable than the ReWalk 6.0, which has a list price of $77,000."

Who can use it?

Before using the device, confirm that the following prerequisites are met by the user:

• Hands and shoulders can support crutches or a walker
• Healthy bone density
• Skeleton does not suffer from any fractures
• Able to stand using a device such as EasyStand
• In general good health
• Height is between 160 cm and 190 cm (5′ 3″ – 6′ 2″)
• Weight does not exceed 100 kg (220 lbs)

People with the following conditions should not use the ReWalk™:

• History of severe neurological injuries other than SCI (MS, CP, ALS, TBI etc)
• Severe concurrent medical diseases: infections, circulatory, heart or lung, pressure sores
• Severe spasticity (Ashworth 4)
• Unstable spine or unhealed limbs or pelvic fractures
• Heterotopic ossification
• Significant contractures
• Psychiatric or cognitive situations that may interfere with proper operation of the device
• Pregnancy

Great News - A Treatment for ALS

In case you missed it, the big news this week is the FDA fast-tracked the approval of a treatment for ALS. You can read about it here:  CNN Health and here:  FDAPress Release.

This is fantastic news for those living with ALS.

I have received a few inquiries asking if this drug could be helpful for treating Kennedy’s Disease.

First off, I am not a doctor and not as knowledgeable as some others with KD concerning this topic. What I do know is that ALS is a condition that attacks the upper motor neurons. Kennedy’s Disease attacks the lower motor neurons. For this reason, I do not believe the new drug will be beneficial for those of us living with KD.

So what is the difference between the two upper and lower motor neurons? I found the following explanation to be helpful.

“Upper motor neurons originate in the motor region of the brain stem. They are not responsible for the stimulation of the muscle which is targeted as they do not carry information down to the final common pathway. They work through a neurotransmitter called glutamate which transmits the nerve impulses from upper to lower motor neurons where it is detected by glutamatergic receptors. On the other hand, lower motor neurons receive impulses from the upper motor neurons and connect the spinal cord and brain stem to the muscle fibers. They are the cranial and spinal nerves. They work by making use of the glutamate which is released from the upper motor neurons, and this triggers depolarization in the lower motor neurons. A series of actions occur which end up signalling the muscle to contract. The cell bodies of the lower motor neurons are located in the neuraxis, and their axons leave and synapse with the muscles in the body. On the other hand, the upper motor neurons synapse with the lower motor neurons as they are unable to leave the central nervous system.”

Source:  DifferenceBetween Net

Nonetheless, even if this new treatment is not the answer, it is progress and a help for those living with ALS. 

Another call for help

It is time to let our lawmakers know the importance of complex rehab technologies for wheelchairs.. Please consider contacting your senators and representatives by using this easy MDA program.

As available technologies improve, I can see devices in the near future that will make life easier and keep us independent longer. Thank you for your consideration.


Help Ensure Access to CRT

Last year, we asked for your support in preserving access to complex rehab technologies (CRT) by urging Congress to stop the Center for Medicare and Medicaid Services (CMS) from applying competitive bidding pricing to complex rehab wheelchair accessories.  CRT and related companion parts or accessories are needed by many people living with muscular dystrophy, ALS, spinal muscular atrophy (SMA) and related neuromuscular diseases to live healthy and independent lives. The collective efforts were successful in securing a one-year delay prohibiting CMS from applying the cuts to power wheelchairs through December 31, 2016.  With that date fast approaching, we need your help again.  Take action below to let your members of Congress know that access to CRT is critical, and urge them to support and bring H.R. 3229/S. 2196 to a vote.

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.

Download the six page report here

ALS Image: ALS Association

KD Image: MDA

Walk-Assist is becoming a reality

Over the last five years I posted several articles on robotic devices that may someday be available to assist those of us living with Kennedy's Disease.The Nikkei Asian Review published an article on the latest success in this amazing area of medicine.

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Wearable walk-assist gets green light for sale in Japan

Cyberdyne's HAL for Medical Use, lower limb type, is designed to help patients with such conditions as ALS and muscular dystrophy.

TOKYO -- Japan's health ministry approved on Wednesday sale of a wearable walk-assist robot for use in medical facilities, underscoring the government's push to promote such products as part of growth strategy.
     The HAL for Medical Use, lower limb type, from startup Cyberdyne is the first wearable medical robot approved for sale in Japan.
     The product is designed for use in healthcare facilities by patients with eight incurable conditions including amyotrophic lateral sclerosis (ALS), muscular dystrophy, spinal muscular atrophy, and spinal and bulbar muscular atrophy, given height and weight requirements.
     Cyberdyne originated at the University of Tsukuba. Yoshiyuki Sankai, a professor there, developed the technology and heads the company as president.
     Sensors attached to the thigh and other parts of the body detect the weak signals from nervous system, and the motor-powered limbs facilitate the movement of the patient's joints by leading them in the desired direction. This helps the body remember how to walk, according to the company.
     The robot could delay the progress of a disorder, or help regain leg function.
     Clinical trials at a national hospital in Niigata Prefecture and elsewhere showed that 24 patients who underwent nine sessions of exercises over a three-month period could walk greater distances than those who did not undergo such exercises.
     "We hope to introduce it initially to eight hospitals including the Niigata hospital," Sankai said. If the treatment qualifies for insurance coverage, the company will work to expand the application to spinal cord conditions, too. ...

To read the entire article, follow this link:   http://asia.nikkei.com/Tech-Science/Tech/Wearable-walk-assist-gets-green-light-for-sale-in-Japan?page=1

For your consideration

The MDA sent out an email yesterday concerning a proposed change that would cut payments for more complex wheelchair accessories. This is something that needs our, those of us living with Kennedy's Disease, attention.

As some of you might know, seats that elevate are not covered by Medicare. This has always been frustrating. With a lift seat, I can still transfer to another chair, the toilet, and the bed. Without it, I would need to have someone capable of assisting me by my side all day.With adjustable seats, seat backs, and leg rests, I can take pressure off of my hips, buttocks. legs, etc.

Please read the bulletin below and consider contacting your representative by clicking on the link below. Thank you.

Help Preserve Access to Complex Rehab Technologies By Taking Action Today

The Medicare program is planning to cut payments for complex rehab wheelchair accessories that are needed by people living with muscular dystrophy, ALS, Spinal Muscular Atrophy (SMA) and other neuromuscular diseases.   The cuts are set to take effect on January 1, 2016 and would limit access to critical accessories such as custom head support and seating systems, mounting hardware, adjustable leg rests, and specialty drive controls among other wheelchair accessories that people living with these diseases rely on each day of their lives.  Therefore, we need your help today!

The Muscular Dystrophy Association (MDA) and ALS Association have joined together to support legislation introduced in the House (H.R. 3229) and Senate (S. 2196) that would stop these cuts and ensure that people with muscular dystrophy, ALS and other neuromuscular diseases continue to have access to the full range of complex rehab accessories that meet their medical needs.

Please contact your members of Congress and urge them to cosponsor this critical legislation. Because the bills must be passed and enacted by December, 31, 2015 in order to prevent these cuts, it is critical that you contact Congress today!  A letter you can customize and email directly to your elected officials is available by clicking here. 

Background:   
In 2008, the Muscular Dystrophy Association (MDA) and the ALS Association supported legislation that specifically excluded complex power wheelchairs and related accessories from Medicare’s competitive bidding program.  Congress took this action because they understood that the competitive bidding program did not recognize the complexities of neuromuscular diseases like ALS and muscular dystrophy, the difficulties imposed by the diseases, or the sophisticated equipment and services that are required to help improve the lives of people living with these diseases.  Since that time, complex rehab accessories have not been included in the competitive bidding program.   However, Medicare is now planning to change that, despite existing law that specifically excludes these technologies and despite the fact that such a change could reduce or even eliminate the availability of these vital technologies.

H.R. 3229 and S. 2196 would make technical corrections to the law to clarify that complex rehab wheelchair accessories should continue to be covered using Medicare’s established fee schedule amounts and not be paid for using competitive bidding prices, which do not capture the full cost of these customized accessories.  The bills follow the intent of Congress with passage of section 154 of the Medicare Improvements for Patients and Providers Act (MIPPA) in 2008 and would help to ensure that complex rehab technologies remain available to people with ALS and muscular dystrophy, and other neuromuscular diseases.

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.