Sunday, August 21, 2011

Today's Yahoo news


Here's a link to an article that appeared today on Yahoo! news. The article is about a new finding, i.e., the common cause in three kinds of ALS, that researchers hope will contribute significantly toward finding a cure.
They found, that a malfunctioning protein recycling system in the neurons of the brain and spinal cord, causes rapid degeneration of these neurons.
Read on to find out -

http://news.yahoo.com/researchers-theyve-found-common-cause-types-als-180606872.html

Wednesday, August 17, 2011

ALS - Linda's thoughts and information about research

My friend Linda has her insight and understanding of the havoc ALS can wreak on a person. This is what she has to say -

             Any thoughts that you'd like to share with us?

ALS strikes as many people as does MS, but people are not as aware of it since "people with ALS" (PALS) do not live as long as people with MS. 


For instance, people with MS, are able, for the most part, to live relatively normal lives with medication and experience periods of remission. But those with ALS, are unable to continue as functioning members of society. We don't see them being able to carry on their jobs, walk, participate in their community - in short, they become invisible far too quickly due to the nature of the disease, confining them to their beds, wheel chairs, and being hooked up to ventilators.

Imagine, having an itch that you can't scratch. Imagine, having to move your eyes to spell out your passions. Imagine, not being able to speak or move, alone with your own thoughts. This is the reality of ALS, Amyotrophic Lateral Sclerosis. It affects the nervous system and is characterized by muscle wasting, paralysis, speech loss and eventually, the inability to swallow or breathe.

The Discovery of ALS more than 1 1/2 centuries ago and the general course of the disease

ALS has been a death sentence ever since its discovery a centruy and a half ago by Jean Martin Charcot. In France it is still called Charcot's disease. In America it goes by the name of its most famous victim, Lou Gehrig, the NY Yankee baseball player.

In ALS, nerves in the spine begin to die one by one. These are what are known as the motor nerves, because they carry signals from the brain to the muscles of the body. Without signals from these motor nerves, the muscles wither and atrophy. As more nerves die in the spine, the body becomes progressively paralyzed. The damage travels up and down through the spinal cord until it reaches the brain stem, which controls the muscles that allow a human body to breathe and swallow. Even then, patients remain wide-awake and fully conscious.They can still see and hear, feel and reason. They become prisoners in their own minds forced to spell out words to communicate by moving the only part of their body not paralyzed, their eyes. (Although an unfortunate 4% lose their eye movement becoming completely locked in.) They watch their muscles wither away until they can no longer breathe, and they suffocate to death.

New gene discoveries have quickened the pace of research on the causes of ALS.

Research on the cause of ALS is being conducted on many fronts, including the ALS Association, Motor Neurone Disease Association (MND), Muscular Dystrophy Association (MD), scientists, University professors and researchers, academic Medical Centers, Biotechnology startup companies, hospitals.  But as new genes have been discovered in recent years, the ALS picture has grown more complex suggesting that there may be multiple primary causes of the disease. 

The ALS Association aggressively supports investigations to uncover the cause of ALS and find innovative treatments

Paramount is the study of the effects of mutations in genes, currently being explored in a variety of models, each chosen to highlight one or more aspects of the disease process. The hope is that this multi-pronged approach has the best chance of revealing the true problem each mutation causes. Coupled with the variety of intense research and investigations (as outlined below), and cooperation with agencies, institutions and individuals, it is an exciting time. All are desperately striving to find the cause/causes of ALS which will lead to means of prevention, and to slow and stop, (and even reverse?!) the progression of the disease in existing cases.

·                     Cause and prevention of ALS
·                     Stem cell research
·                     Gene therapy Drug screening and drug development
·                     Identification of new genes
·                     Development of model systems (worms, flies and zebra fish)
·                     Biomarkers-surrogate markers of disease
·                     Small pilot studies and clinical trials

SODI, the first gene discovered for ALS is still the most common genetic cause known, but two other genes, TDP-43 and FUS, were discovered within the past two years and have become the subject of intense research. Another recently discovered gene, called optineurin, is only found in a handful of families, but researchers are hoping it may reveal disease mechanisms common to many forms of ALS. Mutations in optineurin are known to increase inflammation, a process that may damage motor neurons, through another molecule called TNF-alpha. “If this hypothesis is true,” said Ryuji Kaji, M.D., of Tokushima University in Japan, “inhibition of TNF-alpha may be a key to disease-modifying therapy.” He pointed out that there are many drugs already known to inhibit this molecule, suggesting it may be possible to quickly test this possibility. “There are still more ALS genes to be discovered,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D. She noted that the most recently discovered gene, VCP, which occurs on chromosome 9, is not the only ALS-causing gene there. 
Further work will be needed to discover this still-unknown gene and to identify others that cause the disease. “By finding these genes, and understanding the pathways each works in, we can piece together a picture of ALS that will lead us to new treatments. Each gene we discover brings us closer to that goal.”

The discovery of TDP-43 has had an enormous impact on the understanding of neurodegenerative diseases. Mutations of TDP-43 can also cause another neurodegenerative disease, called frontotemporal dementia, suggesting the two diseases are two ends of a single spectrum. In addition, the involvement of TDP-43 points to RNA processing as a potentially central mechanism in disease. Cells use RNA for a variety of processes, most importantly for relaying genetic messages from the nucleus, where they are stored, to the cytoplasm, where they can be used to create protein. Both TDP-43 and FUS are RNA-binding proteins, meaning they interact with RNA to help it do its job. It is not yet clear how mutations in these two proteins cause disease, but researchers are looking closely at the protein-RNA interactions, to see whether the mutations that cause disease disrupt the normal activity of RNA as a result.

“The more we understand these pathways, the better we can use the information to identify new targets for treating ALS. This is a really exciting time for learning more about the causes of ALS, and trying to find disease-modifying therapies,” Dr. Lee said. Virginia Lee, Ph.D, of the University of Pennsylvania, is co-discoverer of the TDP 43 gene). Tom Maniatis, Ph.D., of Harvard University, is examining the effect of TDP-43 and FUS mutations on gene expression in motor neurons. The goal is to find “the needle in the haystack,” the change in expression that leads to disease, rather than the many others that are a result of it. For reasons that are not yet clear, TDP-43 mutations appear to cause changes in expression that are opposite to those of FUS mutations, despite the fact that both cause ALS. Further research may uncover the link between the two that sheds light on a common pathway.

Nigel Leigh MD, Ph.D is a Professor at the Institute of Psychiatry at King’s College in London (UK). He has been a leader in both clinical and scientific research in ALS, and colleagues have made a start at defining subtypes relevant for clinical trials by analyzing outcomes among a large group of patients and looking for factors that best predict prognosis. They found that two factors predicted most of the variability among groups: site of symptom onset (bulbar or limb) and delay from first symptom to diagnosis, with longer delay predicting longer survival. He's hopeful that his work may provide a jumping-off point for further refinement, with the goal of defining natural divisions among cases of ALS that can speed clinical trials.

Unfortunately with ALS there is an inherent problem in doing Clinical Trials. Often either the participant dies before he/she can finish the trial, or he/she becomes unable to continue taking a drug if it requires swallowing or ingesting by mouth due to paralysis of those muscles. Feeding tubes can provide a solution to the swallowing problem as the drugs can be given to patients who already have a feeding tube.

 Thank you Linda and the wonderful people from the ALS Salem Support Group. Thanks for your time, the well researched information, the willingness to share the story of your life, and most of all, your determined spirit.

Quick links-

Checks can be made out to - 
ALS Association of Oregon and SW Washington 
Mailing address:
ALS Association of Oregon & SW Washington
700 NE Multnomah Ave, Suite 870
Portland, OR 97232





Tuesday, August 16, 2011

ALS community support group's goals and the ALS association

Continuing from my previous post about Linda's brave sister Laurie, and the many efforts toward helping ALS sufferers.

What are the goals of this organization?  

·                     The ALS Salem Support Group (a community support group) - The Group's goals are to provide immediate and direct assistance to persons currently living with ALS in the region, at monthly meetings, in the form of physical (information on walkers, wheelchairs, feeding devices, adaptive communication devices, ventilators, etc., as well as lending some of this equipment from the chapter Loan Closet as described above), emotional (sharing stories with others afflicted with ALS), and financial support (what each insurance company will and will not provide, what the government can provide, where the patient will live, how the patient will get around, what changes need to be made in the house to accommodate larger wheelchairs and equipment, etc.) 

·                     The ALS Association (includes both the National Office and The ALS Association of Oregon & SW Washington) work together to accomplish a shared mission: to help people living with Amyotrophic Lateral Sclerosis and to leave no stone unturned in the search to unlock the secrets to ALS and find a cure for this devastating disease. The hope is that one day ALS will be a disease of the past - relegated to historical status, studied in medical textbooks, conquered by the dedication of thousands who have worked tirelessly to understand and eradicate this deadly disease. 

The ALS Association's Oregon & SW Washington Chapter's primary focus is, until there is a cure, commitment to providing the practical supports that people with ALS, their families and caregivers, need to cope with this life-changing disease. The National Office focuses primarily on research and advocacy. The State Chapter supports the National Office through revenue sharing and research contributions. The National Office supports the Chapters by providing up-to-date information and materials.

How many people participate each year?  

At the Salem Walk there are usually 500 people. At all the walks regionally there are over 6000.

Tell us about your particular group.

      Laurie's Lions (an individual and her family and friends) - This team, formed in 2004, when Laurie enthusiastically contacted numerous relatives and friends, continues to walk every year for ALS, even though its founder and star fundraiser Laurie is no longer alive. Laurie's hope, and also that of all us who walk in her memory, is to raise money for both the ALS Support Group and ALS Association in order to help those currently living with ALS and to help find a cure to save any others from ever having to suffer the devastating effects of ALS.  

The ALS Association of Oregon and SW Washington was started in 2000 by, Cindy Burdell, to fulfill the wishes of her brother, Richard Burdell, who died of ALS. In fact, before incorporating as The Oregon & SW Washington Chapter of The ALS Association, the organization was preceded by The Burdell Memorial ALS Foundation. The Foundation was formed to remember Richard Burdell, a Portland jazz and pop musician who died June 21 1998 after a 14-year struggle with ALS. 

Trumpeter, bandleader and athlete, the charismatic Burdell was a major part of Portland, Oregon’s music scene throughout the 1970s and mid-'80s. Later he became an inspirational example of courage and perseverance.

Paralyzed everywhere except his eyes, Richard had to find new ways to communicate. Mostly, he "spoke" by moving his eye toward or away from a friend or caregiver, as that person recited the alphabet, slowly spelling out sentences. As a shortcut, he used a chart stocked with oft-needed phrases. Spot 17a on the chart meant "I love you," and this remains a treasured remembrance of him.

 At first, the chapter just served people in the Portland/Salem area. Now, 9 years later, there are regional staff across the state (Portland, Salem, Eugene, Bend and SW Washington), capable of reaching out to help more people.

When is the walk to be held?  

September 17th was the date of the 2012 walk in Salem, Oregon  (Salem is where twins Laurie and Linda grew up and the place that Laurie always called home, so Laurie's Lions continues to participate in that particular walk), but there are a total of five ALS walks in Oregon alone, each in a different city, also many walks in other cities all across the USA. The provinces of Canada also sponsor ALS walks. 

How much do you hope to raise?

We'd just like to reach out to as many people as possible. All donations from $1 to $25 or more are very much appreciated. All are combined to fund the two entities associated with ALS - 1) Persons currently living with the disease (PALS), who sadly need equipment for things that the rest of us take for granted, like doing everyday tasks, communicating, even breathing;  2) Scientists and researchers who are steadily working to find a cure or at least a means to mitigate the debilitating symptoms of those already afflicted by ALS. The hope is that some day  there will be no more ALS, that a means will be found to prevent the occurance of ALS altogether.  All donors/donations touch the ALS community with hope for the future. 

Where can people go to contribute toward your cause? 

The Oregon ALS walks are held in September each year. At this time, the walk teams have not yet been set up for the 2013 walks. However, donations to the ALS Associate of Oregon & SW Washington are welcome at any time.   


A) They can give online, right on my Walk page 

B) Or, if they'd prefer to send a check, it can be made out to: "ALS Association of Oregon & SW Washington"

Mailing address:
ALS Association of Oregon & SW Washington
700 NE Multnomah Ave, Suite 870
Portland, OR 97232

C) To find out more about other walks, or to donate to another ALS Chapter, visit this general website ~ info@alsa-or.org 

Next....Linda's thoughts and some research



ALS or Lou Gehrig's disease - The story of Laurie Speight

                                   I have here, an interview with Linda H.Batty, who shared with me the story of her twin sister Laurie Speight. When Linda and I met earlier this year, we spent a lot of time talking about our favorite activities. I was impressed by her participation in long distance bike tours (100km and more), her stories about belonging in sports teams and the generally active life that she led. It was much later that she opened up about her personal tragedy. I won't easily forget the struggle in her face, as she described her twin sister's life being taken over by ALS. It is difficult to imagine being told that, no matter what one tries, the cure is far away. Linda, being Linda, continues to fight back on her sister's behalf. Read on ...
                                    
                                      Tell us about how your journey with this cause began -
               
              My journey with ALS began toward the end of 2003, when I got several frightening and worried telephone calls from my identical twin sister Laurie Speight.  I was devastated and in a state of shock and disbelief. I thought,  "It can't be true! Not my twin sister! It would be better to have something else like cancer, Parkinson's disease, or MS, anything but ALS!!

             I had already known about ALS, that there is no known cure for the disease, and that the "average" life expectancy for life remaining after diagnosis was 2 to 5 years, which meant that Laurie would likely be gone in 2 to 5 years, after having spent the latter of those years filled with the unimaginable debilitating effects of ALS.   I cried so hard when I heard the news. Afterall, this was my twin sister! We had always been extremely close and I couldn't imagine life without her. At the time, she was still full of energy, and still had so much to accomplish in life.

              When and how was Laurie diagnosed?

              Laurie was diagnosed with ALS in 2004, after about 5 agonizing months of not knowing for sure what was causing some bewildering and frustrating symptoms (her early symptoms included stiff upper legs, difficulty going up the stairs 2 by 2, and weakening of legs in general, also some balance problems). 

             She saw doctors and specialists including a neurologist, and tests were performed that included blood and urine tests, X-rays, MRIs, and EMGs. Generally, when ALS is suspected, these tests are often performed more to eliminate the possibility that the disease isn't something else such as Lyme Disease (some early ALS symptoms may resemble those of Lyme Disease) or perhaps a condition caused by the exposure to heavy metals.  

             Of all the pathologies in medical textbooks, amyotrophic lateral sclerosis (ALS) is one of the most painful diagnoses for a doctor to deliver, and certainly for a patient to receive. Consequently, and understandably, doctors give the patient this devastating news only if they are quite certain that the patient does, in fact, have ALS.

             When did your association with this organization begin?           
              I first got involved in 2004 when Laurie was diagnosed with ALS.  From then on, for three years I divided my life between 2 states (Maryland and Oregon), and 2 loved ones (my sister and my husband), spending much of my time in Oregon where Laurie lived, and the rest of my time with my husband in Maryland where I also had a job. 
             Whenever I was in Oregon with Laurie I always attended the monthly ALS Support Group get-togethers in Salem. The ALS Support Group invites speakers who provide information not only for those living with ALS, but also for the caregivers. It is at these support groups where PALS (Persons with ALS) come together to enjoy each others' company and to share experiences with others struggling with their lives just like they are, and hopefully get ideas to better cope with their daily routines. The meeting room is also the site where PALS can come to get medical equipment and supplies that have been used and returned, ready for someone else to use. Some of these ALS supplies and equipment were purchased by funds raised in fundraisers like the ALS Walks. This is a huge help for the families who are already struggling to pay mounting medical costs (for doctors, medical equipment and supplies) for the care of their loved one.

              What are your personal goals when you participate in the walk every year?
              Every year I participate primarily to raise as much money as possible for ALS, which is urgently needed for equipment and supplies to assist those currently living with ALS. A portion of the funds also goes toward research into what will hopefully lead to a cure for ALS. 

              These walks help raise awareness about the disease. Often there is a big turnout of walkers. It's certainly an eye-opener for many passersby who may be seeing, for the first time, so many people in wheelchairs (power or manual), someone else possibly using a BI-Pap, another one possibly hooked up to a cumbersome machine such as is needed for a tracheotomy, while others are limping along with the aid of walkers, or speaking with the aid of computers. 

              However, the mood at these walks, as sad and difficult it is to see PALS living with such a cruel disease, is not one of just sadness and depression, but more of a day of inspiration and hope. It is beautiful to see many families actually laughing, talking, eating and even dancing. People of all ages and all ethnicities are present, and people with ALS at all different stages in the disease process are with their families and friends.  

Linda and Laurie, on their 2006 ALS walk
Would you like to make a difference with a contribution or equipment? Visit Linda's ALS support page
              
              How do you usually raise funds?
              The first year, 2004, I walked around the neighborhood and knocked on lots of doors, even the doors of strangers. Now I just send out emails and spread the word by mouth. Also now I tend to only ask close friends, and not strangers, as I feel people I've asked before will donate again if they want to.            
                  
              What are the basic supplies needed for people affected by ALS?
              The more expensive supplies include manual and motorized wheelchairs, shower benches, air beds, bi-paps to assist breathing, and communication devices.
              There are many other aids like walkers, hospital beds, pressure relieving mattresses, patient lifts and transfer devices, to assist in the daily lives of PALS living with the disease. The ALS Association, Oregon and SW Washington Chapter has a loan medical equipment loan program to help minimize these costs for families.          
          
             What are costs of these supplies?         
             Some of the most expensive items include an accessible van (usually between $25,000 - $35,000 that is needed to transport a heavy and bulky power wheelchair, as well as $25,000 for power wheel chair,  $1000 hospital bed, $5000 bi-pap, a $6000 cough assist machine, a $8000 communication device and more.   

              To contribute to the ALS Walk, please visit the ALS Support page.

To be continued...

Next - Goals and thoughts

Introduction

pic credit - pakorn; freedigitalphotos.net
Hello everyone!

I would like to introduce myself as A.M. The purpose of this blog is to invite and interview, people and organizations, supporting those suffering from diseases awaiting definite cures. A great deal goes into maintaining the quality of life for stricken loved ones. Aside from the obvious emotional toll on caregivers, the financial worries can be demoralizing. There are many, many groups that raise funds to increase awareness of these conditions. These groups not only provide many necessities, they also donate their earnings toward research.

I hope to provide a glimpse into lives that have been changed by these conditions, and the many motivated people who choose to fight the odds.

There will be links to the individual organizations' web pages. Any contributions toward causes will be much appreciated. No payments go through this blog. Each organization has it's own systems in place.

Do stay on and read! There's a whole world that could use just a little understanding and a little help. You can help make lives better.

You're invited to follow us, to stay informed about many people who make our world a better place. Thanks for stopping by!

pic link - http://www.freedigitalphotos.net/images/view_photog.php?photogid=2188