Making-Connections

ALS Assistive Technology - Post on Samsung "Eye Tracking" Phone

2013-04-05T06:19:00.002-04:00

I was going to write a blog on the new Samsung Phone with eyetracking capabilities (actually it instead relies on facial recognition and tilt - but I won't be picky). I was so intrigued by the possibilities for people with disabilities!

A great blogger beat me to it, so I will gladly redirect to the "ALS Assistive Technology Blog" where Alisa Brownlee does a satisfying write up!

Follow Alisa on Twitter too! @alsassistivetec #AAC, #augcomm, #assistivetech #als #mnd #lougehrig's disease

"The launch of the Samsung Galaxy S4 last month garnered the type of media attention we’re getting used to for any new smartphone. Among the most talked-about feature pre-launch was “eye tracking” – the phone’s ability to know where its user was looking and react accordingly.
It took a few days for anyone to point out the application was more “head tracking” than eye tracking. As reported in the Wall Street Journal, it enables what Samsung is calling “smart pauses” and “smart scrolling”." More....

http://alsassistivetechnology.blogspot.com/2013/04/the-samsung-galaxy-s4-and-eye-tracking.html

ALS Worldwide Newsletter - by Barbara and Stephen Byer

2012-10-18T09:54:00.000-04:00

I receive this newsletter from Barbara and Stephen Byer and find it very valuable! I reblogged below. If you are interested in the info presented - please sign up for the ALS Worldwide newsletter!

ALS WORLDWIDE
A not for profit 501(c)3 organization
125 N. Hamilton Street, Unit 1402
Madison, WI 53703
Barbara and Stephen Byer
Rebeccah (Byer) Rush
ALSWORLDWIDE.ORG

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The past two months have shown important scientific advances for the ALS community. In this newsletter, we've highlighted some of these research advances, an impressive new ALS residence and other subjects we think you will find worthwhile.

NOBEL PRIZE WINNERS

The Nobel Prize in Physiology or Medicine 2012 was awarded to Sir John B. Gurdon from UK and Shinya Yamanaka from Japan who discovered that mature, specialized cells can be reprogrammed to be converted back into immature cells capable of developing into all tissues of the body. In 1962 John B. Gurdon replaced the immature cell nucleus in an egg cell of a frog with the nucleus from a mature cell of intestine. This modified cell, containing the DNA of the mature cell, then developed into a normal tadpole showing that the mature cells had all the information necessary to develop all cells in the frog. More than four decades later, in 2006, Shinya Yamanaka showed that mature cells in mice could be reprogrammed to become embryonic stem cell like cells by introducing only four genes. These pluripotent stem cells, called induced pluripotent stem cells or iPS cells, are able to develop into all types of cells in the body.

These revolutionary discoveries have major implications for ALS research. Although use of neurons generated from human embryonic stem cells had been proposed as potential treatment for ALS, we can now generate pluripotent stem cells with characteristics very similar to embryonic stem cells from different adult tissues without destroying any human embryos. For example, we can draw a tablespoon of blood from patients with ALS and use the blood cells to generate iPS cells. These iPS cells could then be used to generate motor neurons in culture dishes. Such neurons generated could be used to study ALS disease formation in culture dish, test new drugs, or maybe one day generate neurons that could be used for transplantation. Dr. Gurdon and Yamanaka's seminal discovery on how to reprogram cells back to their primitive stages has created novel methods to study diseases and potentially develop new strategies for treating ALS.

Written by Dr. Peiman Hematti, ALSWW Scientific Advisor

THE ALSWW SEARCH ENGINE

Beginning on or before November 1, there will be a search engine on the ALS WORLDWIDE website that allows ALS patients worldwide to locate the ALS clinic or other facility nearest their home. The results provide names and contact information for clinics, hospitals, neurologists and support organizations - all in one place. We've merged data from many different places and organizations to create a single resource for those with ALS. Updates will be regularly provided. Any changes or corrections are welcomed by Rebeccah Rush.

THE NORTHEAST ALS CONSORTIUM

For a complete summary of all the research currently underway for ALS, the NEALS newsletter is concise and informative with the latest updates and upcoming information available. Please sign on to the website in order to remain current. Ask your neurologists if they are involved in a trial that you are interested in participating in and become your own best advocate. If you need any further information on any of the trials you see presented at this site, please call or email ALSWW. We remain committed to assist in any way possible.

LEONARD FLORENCE CENTER FOR LIVING

The Leonard Florence Center for Living Green House in Chelsea, MA, named after the late Chelsea-born philanthropist Leonard Florence, is a state-of-the-art, six-story, 100-bed, skilled nursing home that embodies the many comforts, design, and ambiance of one's personal home. The Center, which overlooks the scenic Boston Harbor, consists of ten 7,000-square-foot condo-style Green Houses with each home containing ten private bedrooms complete with bath and shower, arranged around a dining area, open kitchen and common living room where residents may relax and develop a sense of community.

These ten condo-style homes, also called "residences" have specialized services to cater to specific populations such as long term care residences, short term rehabilitation residences and ALS/MS specialized residences. Private kitchens with personalized menus, private rooms with full bath encircle a community living and dining room, all created with a focus towards greater independence for residents. This state of the art facility is a benchmark of excellence which we hope will be replicated throughout the country. Barbara and Steve Byer will visit the Leonard Florence Center and its Steve Saling ALS Residence soon to meet the residents, learn more and try to help replicate this new model living center elsewhere.

ALS BIOMARKER IDENTIFIED

There was very good news about a new study recently published in the Journal of Clinical Investigation, Harvard's Dr Howard Weiner appears to have identified a blood biomarker, a type of white blood cell known as a "monocyte", that clearly indicates the earliest stage of ALS through a simple blood test. This is extraordinarily important with the now accepted understanding that the most successful treatments in the amelioration of ALS symptoms must be started in the earliest stages of the disease, whenever possible.

We feel it is appropriate to call out the groundbreaking work, Protein Biomarkers Study, published in 2003, by Dr. Robert Bowser, then of the University of Pittsburgh and now at the Barrow Neurological Institute in Phoenix, AZ, that served as a critical foundation for the current efforts of the monocyte study. Both studies were funded in part by the resources of ALSA, for which we are all very appreciative.

MOMMA MARY FOUNDATION'S 1ST ANNUAL GALA

Tuesday, October 23, 2012

For those who watch the television series, Cake Boss, you might have seen the program Bittersweet Homecoming in which Mary Valastro, Buddy Valastro's mother, tells the world she has ALS. Her spirit and truth are an amazing experience to watch and we encourage you to download the half hour program. Mary Valastro has inspired her family to become the people they are today. As the family matriarch, she is a wonderful, strong, compassionate woman, a leader for all those who suffer from this challenging disease and a terrific singer.

In Mary Valastro's honor, the first Momma Mary Foundation Gala is being held at the Rockleigh, NJ Country Club on October 23, beginning at 6:00 pm. This will be a wonderful celebration of Mary's courage, complete with great entertainment, excellent food and of course, wonderful desserts. It is truly an honor for us to have ALS WORLDWIDE named as a recipient of this benefit along with the esteemed University of Massachusetts ALS Center under the direction of our friend and colleague, Dr. Robert Brown, Jr.

More Information about attending and/or participating is available from

Nikki O'Connell.

SCIENTIFIC PEER REVIEW OF AMYOTROPHIC LATERAL SCLEROSIS RESEARCH APPLICATIONS FOR THE DEPARTMENT OF DEFENSE

Stephen Byer of ALS WORLDWIDE recently participated in the evaluation of research applications submitted to the ALS Research Program (ALSRP) sponsored by the Department of Defense. Steve was one of two consumer reviewers selected by the Department of Defense to analyze and review DOD grants for ALS research to select the most advisable and beneficial research projects submitted to DOD during 2012. More information is available at Scientific Review Panel

WORLD STEM CELL SUMMIT

December 3-5, 2012

West Palm Beach Florida

The World Stem Cell Summit will be held in Florida in December this year.

Featuring more than 150 renowned international speakers and 65 hours of in-depth programming, the World Stem Cell Summit unites, educates, and harmonizes the global stem cell community. The 2012 World Stem Cell Summit's interdisciplinary agenda is an engine for discovery, funding and commercialization, exploring the field's most pressing topics with four tracks:

* Research
* Translation and Regulation
* Commercialization and Reimbursements
* Advocacy/Consumer Safety

This year, panels will address advancing treatments for specific diseases and conditions including: ALS, cancer, diabetes, HIV/AIDS, cardiovascular disease, spinal cord injury, paralysis, multiple sclerosis, Parkinson's, eye diseases and others.

On the first day of this event, at 2:30, a panel discussion will be held that focuses on Translational Studies - ALS, Parkinson's and other Neurological Disease. Stephen Byer, Co-Executive Director of ALSWW will serve on a panel along with Lucie Bruijn, PhD, Chief Scientist of ALSA, Dennis Steindler, PhD, University of Florida Department of Neurosurgery and Jeffrey Rothstein, MD, PhD, Johns Hopkins University School of Medicine. Arlene Chiu, PhD of the Beckman Research Institute at City of Hope will moderate the discussion.

As in years past, ALSWW has arranged special rates for both ALS patients and caregivers for this incredibly important conference on stem cell technology and practices. For rate information and registration, email Alan Fernandez.

MDA FUNDS EFFICACY TRIAL OF

NEURX DIAPHRAGM PACING SYSTEM IN ALS

The Muscular Dystrophy Association has committed $750,000 in support of a clinical trial designed to test for efficacy in the NeuRx Diaphragm Pacing System (DPS) in people with amyotrophic lateral sclerosis. Investigators will compare respiratory function and quality of life in people with ALS who use the DPS and those who receive the current standard treatment. In people with ALS who have chronic breathing problems and whose diaphragm still is able to respond to electrical stimulation, the DPS may forestall or negate the need for invasive ventilation. Respiratory failure is the most common cause of death in ALS.

About the Procedure

When the diaphragm muscle weakens, the act of breathing can become conscious and difficult (even though there is nothing wrong with the lungs). Chronic hypoventilation usually requires supportive measures that compensate for weakened muscles by helping move air in and out of the lungs. Standard supportive measures include noninvasive ventilation, which delivers air under pressure via a small, portable machine (bilevel positive airway pressure, or BiPAP, is one example); and invasive ventilation, in which a ventilator delivers air directly into the windpipe through a tracheostomy, or surgically created opening in the neck.

The DPS requires minimally invasive laparoscopic surgery, in which electrodes are surgically implanted in the diaphragm. The device activates the phrenic nerves, which stimulate the diaphragm, supplementing breathing ability and possibly delaying diaphragm shrinkage (atrophy). If the nerves or diaphragm have deteriorated too much, the device is not likely to have any benefit. In people with ALS who have chronic breathing problems and whose diaphragm still is able to respond to electrical stimulation, the DPS may forestall or negate the need for invasive ventilation.

The Trial

The phase 2 trial is expected to enroll 180 people with ALS. Of that number, 120 will receive the DPS, and 60 will receive treatment in line with the current standard of care.

Investigators will compare measures of diaphragm function, dyspnea (shortness of breath) and quality of life between the two groups.

The trial is being conducted at two primary sites: SUNY Upstate Medical University in Syracuse, N.Y., and California Pacific Medical Center in San Francisco (CPMC).

Kirsten Gruis, Associate Professor of Neurology at SUNY, will be the Principal Investigator for the trial. Jonathan Katz, Director of the neuromuscular diseases program at CPMC, will serve as Co-Principal Investigator. Dr. Katz also co-directs the MDA/ALS center at that institution.

People with ALS over the age of 21 years with some degree of breathing muscle weakness and hypoventilation, and who meet other criteria, are eligible for participation.

MDA is providing funding for the trial through MDA Venture Philanthropy (MVP), the drug development arm of MDA's translational research program. The ALS Association and Synapse Biomedical also are funding this trial.

For more about the DPS, see A Closer Look: Diaphragm Pacing System (MDA/ALS Newsmagazine, January-March 2012.)

NEURALSTEM CELL THERAPY FOR ALS

The current status of this important stem cell trial was recently reported both in Clinical Trials and on the Neuralstem website. The US Safety Trial was completed in August 2012. The Mexico City Phase I/II Trial is expected to start in the fourth quarter of 2012. The mechanism of action is rebuilding neural circuitry through direct injections into the spinal cord. ALSWW continues to be impressed by the thoroughness, safety measures, apparent results to date and continuing dynamic research under the aegis of Principal Investigator Dr. Eva Feldman (University of Michigan), Site Investigator Dr. Jonathan Glass (Emory University) and Neurosurgeon Dr. Nicholas Boulis (Emory University).

Neuralstem is seeking to treat the symptoms of ALS via transplantation of its NSI-566 human spinal cord stem cells (HSSCs) directly into the gray matter of the patient's spinal cord. In ALS, motor neurons die, leading to paralysis. In preclinical animal work, Neuralstem cells both made synaptic contact with the host motor neurons and expressed neurotrophic growth factors, which are protective of cells.

Neuralstem initiated the first FDA-approved stem cell trial for ALS in January 2010, at Emory University. This Phase I safety trial, to evaluate the safety of the NSI-566 cells and surgical technique, was designed to enroll up to 18 patients. The Principal Investigator is Eva Feldman, MD, PhD, Director of the A. Alfred Taubman Medical Research Institute, Director of Research of the ALS Clinic at the University of Michigan Health System, and President of the American Neurological Association. The Site Investigator is Jonathan Glass, MD, Professor of Neurology, Emory School of Medicine and Director of the Emory ALS Center. The trial was awarded an Orphan Drug Designation by the FDA in February 2011.

Neuralstem expects that the transplanted cells will graft permanently into the region where they were transplanted; rebuild circuitry with the patient motor neurons; protect patient neurons from further ravages of the disease.

We hope you have found this information beneficial. In the near future, we will be bringing you the soon-to-be published results of several important clinical trial results from Biogen Idec, Neuraltus, Cytokinetics, Neuralstem and others. If you would like a particular aspect explored further or have questions, please email or phone ALSWW at 608-663-0920.

Barbara and Steve Byer

October 17, 2012

PLEASE COMPLETE THE ASLWW SURVEY TODAY

ALS WORLDWIDE

Thank You.

It is all about connections...

2012-06-18T20:53:00.001-04:00

Just a light blog this month. I am asked often why do families with hereditary diseases want to connect? Why the compelling need to understand? To Connect?

Brene Brown answers this best. So to that......I leave you with this.

Getting to Know "ALS -Treat Us Now"

2012-05-02T20:42:00.001-04:00

“Wouldn’t we all feel foolish if two years from now there are studies of these drugs that show they are useful, and we bypassed this chance two years earlier to give them to people and help them?.... I am less worried about false hope than I am about false hopelessness.” –Joe Brewer

For ALS Awareness Month (May 2012) - I thought it would be nice to introduce some of the "lesser-known" advocacy organizations that work for people living with ALS (Lou Gehrig's Disease).

If you read my posts, or follow ALS news...you know by now that every 90 minutes in the USA - someone hears the dreaded phrase, "You have ALS..."

ALS patients also then learn the difficulties in finding potential therapeutic options...as the drug trials are lengthy and it takes years to get drugs to market. There is little chance of getting access to pre-approval drugs - although there is legislation pending to alleviate the wait for certain groups.

Ready to take on the issue?

Please let me introduce, "ALS - Treat Us Now" - full of passion and fight! ("Like" them on Facebook, too!)

Their goals are simple and straightforward:

As ALS patients and their caregivers, we are committed to accelerated access to treatments that will slow progression or provide a cure.

To assure compassionate access for ALS patients to treatments that have demonstrated in Phase II trials the ability to slow progression or cure ALS.
To cooperate with all willing ALS stakeholders.
To assure that funds are made available to allow patients compassionate access to treatments.

Stay tuned as they're just getting organized, but I think they have a unique opportunity to make a difference for patients who seek access to potentially effective investigational/pre-approval drugs.

Intro to "ALS - Treat Us Now" (posted with permission)

https://docs.google.com/open?id=0BzkRiVDqx2M8eFFReXFfZTJ5YXM

Below is a presentation developed by Thomas Murphy of "ALS Treat Us Now"
(posted with his permission)

Thomas Murphy 20120424 26 hill visit - final

For additional information - Paper by Jess Rabourn of PCUT: (posted with Permission)

https://docs.google.com/open?id=0BzkRiVDqx2M8SXpERUN2YkhOT28

What do you think? In the era of hoping to find a cure...is acceleration to market for certain groups the right answer...or is it dangerous and feeding on the fears of vulnerable and desperate people. Please comment and let us know!

Women with ALS take to the skies to battle disease

2012-04-21T09:45:00.000-04:00

Mercury News Photo

This is too good not to repost! I met Gloria on a visit to San Francisco in 2011. She is a dynamo and I am so happy this jump was an amazing success! They haven't yet reached their fundraising goal (in support of the ALSTDI Young Faces of ALS campaign) so please feel free to help them achieve it!

To make a donation in support of Gloria Hale and Juri Kameda to raise research funds for ALS Therapy Development Institute, go to http://community.als.net/skydiveforYFALS. Checks payable to “ALS TDI” can be mailed to Gloria Hale, P.O. Box 20433, San Jose, CA 95160.

The whole report is here:

http://www.mercurynews.com/bay-area-news/ci_20383251/riding-fall-alss-thelma-and-louise-go-skydiving

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The size of Gloria Hale and Juri Kameda's worlds began to shrivel the day each woman got her diagnosis of ALS. Amyotrophic lateral sclerosis -- often referred to as Lou Gehrig's disease -- withered their bodies, but left their hearts and minds intact.

Hale, 53, saw the circumference of the earth contracting to the four walls of her San Jose home. Then she had an idea how to redirect the progression of her disease, how to slow the certain death that seemed to be rushing toward her. Hale decided it was a perfect time to go sky diving with her friend Juri.

How did this sound, she asked her friend: They would hurl the bodies that have betrayed them -- have left them, in a sense -- out of an airplane from nearly two miles high, free fall at 115 mph for more than a minute, then parachute to a graceful landing near their wheelchairs. They would be the Thelma and Louise of progressive neurodegenerative disease. If possible, without the splat at the end.

Mercury News Photo

Both women are scheduled to have feeding tubes inserted the week after their sky diving adventure, and Kameda will have a catheter implanted in her abdomen two days after purposely scaring the pants off herself. If rain scrubs this week's attempt, they plan to jump next week -- tubes and all.

So far, their fundraising effort has raised slightly more than $3,000, well short of their $12,000 goal.

Since Gehrig brought attention to the disease -- and gave it a name -- with his famous retirement speech at Yankee Stadium in 1939, almost no progress has been made toward a cure. And with only about 30,000 ALS sufferers nationwide, the medical research community hasn't devoted the kind of time or money likely to produce a cure.

Entering the third year of her illness -- by which time nearly 80 percent of ALS sufferers succumb to the disease -- Hale knows she can't reverse the course of her own illness. But she hopes to spare others far younger than she from receiving the same dire diagnosis. "We are desperate," she says. "Lou Gehrig's disease is the best kept secret in the world. This daredevil approach is our way to bring attention to it."

After running through a harrowing litany of tasks her body can no longer perform -- such as swallowing and breathing -- she steers the conversation back to sky diving. "Enough of the pity party," the computerized voice says, its uninflected monotone at odds with fire in Hale's eyes. She wants to speak for "the less fortunate people with ALS," she says. That's why she's jumping. - They definitely succeeded! An inspiration for so many!!

Hopkins Launches New ALS Research Center with $25 Million Gift

2012-03-21T16:14:00.000-04:00

For our fALS families - this piece of the news "The research will also compare stem cells from patients with hereditary ALS to those with the more common sporadic disease (that doesn’t run in families) to understand how these forms differ; " is the most compelling. Let me reach out to Hopkins to see if they will let us know more!

What do you think?
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Hopkins Launches New ALS Research Center with $25 Million Gift

For the entire article: http://www.hopkinsmedicine.org/news/media/releases/hopkins_launches_new_als_research_center_with_25_million_gift

Release Date: 03/21/2012

A $25 million gift has enabled Johns Hopkins to establish a new center to develop novel therapies for the neurodegenerative disease known as amyotrophic lateral sclerosis, Lou Gehrig’s disease, or ALS. Much of the center’s research will focus on using stem cells individually derived from ALS patients to develop new model systems to investigate how nerve cells degenerate, as tools to screen new drug therapies, and to develop stem cell therapies as transplants to potentially slow or reverse the disease.
The new center, dedicated March 21 and formally known as the Michael S. and Karen G. Ansari ALS Center for Cell Therapy and Regeneration Research at Johns Hopkins, is named for its benefactors: Michael and Karen Ansari. Michael Ansari is the founder, chairman and CEO of M.I.C. Industries.

“Despite knowing about this disease for decades and the large number of clinical trials that have been completed, we still have little in our arsenal to treat it,” says Nicholas J. Maragakis, M.D., an associate professor of neurology at the Johns Hopkins University School of Medicine, co-medical director of the ALS Clinic and director of the new center. “We are now able to think out of the box about this disease. The goals of a center will focus on the use of stem cells as tools to foster aggressive programs in discovering the underlying mechanisms behind what causes ALS and rapidly translating these discoveries to the patients in our clinic.”

The new center will test a number of different approaches against ALS, with emphases on neuroprotection and regeneration. These include guiding stem cells produced directly from ALS patients and animal models to develop into specific neural cell subtypes to study their vulnerability. The research will also compare stem cells from patients with hereditary ALS to those with the more common sporadic disease (that doesn’t run in families) to understand how these forms differ; dose stem cells from ALS patients with environmental toxins to see how these influence cell survival; use stem cells from ALS patients or animal models to screen drugs that may work to treat ALS; and ultimately use stem cells to understand how to enhance nerve cell regeneration.

“This extraordinary gift represents a game-changer in ALS, bringing together in the Ansari Center at Hopkins four renowned physician-scientists whose sole focus is on finding a substantive treatment for ALS,” says Justin C. McArthur, M.B.B.S., M.P.H., F.A.A.N, professor of neurology, pathology and epidemiology and director of neurology at the Johns Hopkins University School of Medicine. “This gift allows us the flexibility to explore options in understanding and attacking ALS that we wouldn’t be able to pursue any other way. Our goal is nothing less than overcoming ALS.”

Leadership is key! "Neurology 'tsar' needed as services 'not up to scratch'"

2012-03-18T15:11:00.000-04:00

We can't underestimate the impact of neurological disorders on the healthcare system. The number living with MS, ALS, Parkinson's, Alzheimer's, etc are on the rise.
In the UK - there is a heating movement to create more leadership in how the country reacts to this "health care crisis". What is the movement in the US?
What do you think? How do we make those connections?

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Neurology 'tsar' needed as services 'not up to scratch'

Emergency hospital admissions for people with neurological conditions like Parkinsons and motor neurone disease have risen by a third after a social services funding freeze, MPs have warned.

http://www.telegraph.co.uk/health/healthnews/9146666/Neurology-tsar-needed-as-services-not-up-to-scratch.html

By Stephen Adams, Medical Correspondent

Comment

The Public Accounts Committee report, published today (Friday), found a 2005 plan to help improve services for Britain's two million people with neurological problems "has not worked".

A lack of leadership has led to numerous problems including emergency hospital admissions for neurological problems increasing by 32 per cent between 2004-5 and 2007-8 - almost double the average. The number went up from 251,274 to 330,472.

Steve Ford, chairman of the Neurological Alliance, and chief executive of Parkinson’s UK, said a "neurology Tsar" was needed to provide greater leadership.

He said: "A neurology Tsar would provide the proper leadership that is so desperately needed to sort out this crisis of care.

"It’s time the government heeded the warning that services are simply not up to scratch for people with neurological conditions, like Parkinson’s, MND and MS."

The report found that, while health spending on neurological conditions increased by 38 per cent in real terms, from £2.1 billion in 2006-7 to £2.9 billion in 2009-10, "spending on social services ... has remained flat".

Services for these people "remain well below the quality requirements set out" in the National Service Framework for Long-term Conditions, it noted.
It went on: "Unlike the Cancer and Stroke strategies the model used to implement the Framework has not worked.

"Implementation was left to local commissioners without the national leadership necessary to drive improvements."

Margaret Hodge, the Labour MP who chairs the committee, said: "The Cancer and Stroke strategies were headed by a Tsar and the Department monitored services with clear data against clear targets.
"For this clinical area, the Department left the implementation to local health commissioners but gave them no leadership at all."

She also said the Government "must set clear objectives" as the provision of health and social care became "decentralised" under its health reforms.

Paul Burstow, the Care Services Minister, said: "The Health and Social Care Bill offers a real opportunity to improve care and ensure people living with long-term neurological conditions get the best possible outcomes.

"It supports integration at every level to make sure people get the care and support they need at the right time and right place."

New Genetic Discovery in the ARC Newsletter for January!

2012-01-27T18:54:00.001-05:00

This ARC Newsletter was so important I had to post in hopes the word gets out!

For More information about this discovery - please visit: www.als-research.org

Please read the newsletter and if you would like to receive this newsletter in your emal, Please Contact

Natasha E. Garcia, BA

NGarcia5@med.miami.edu

ARC Research Assistant

Department of Neurology

University of Miami Miller School of Medicine

1120 NW 14th Street, Suite 1313

Miami, FL 33136

New fALS Connect Newsletter!

2012-01-25T05:57:00.000-05:00

I am so very pleased to see the The ALS Research Collaboration (ARC) Team continuing their growth! fALS Connect is a fALS Connect is a collaboration between multiple interested agencies including the ALS Association and the Northeast ALS (NEALS) Clinical Trials Consortium. They have now launched a newletter to go with their website: https://fals.patientcrossroads.org/

If you are a member of a fALS family - check out the website and register!! The more we stick together, the more scientists can learn and understand the nature of the disease and work to finally end it. Let's keep Making-Connections!

New Insight on Inheritance of ALS

2011-12-02T07:47:00.001-05:00

Hey everyone! My friends on "Patients Like Me" shared an article...that I thought I would post here for broader dissemination. The most interesting aspect changes what we think about ALS and inheritance.

Thank you, "Persevering" for continued insight!!

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Here is a very recent article with another confirmation of inherited forms of ALS leading to diagnosed ALS in only second degree relatives in some cases. The article is free open access:

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0027985

Relevant excerpt:

"Among the entire cohort, 45 individuals (4.1%) had a family history of ALS. However, only 24 patients (2.2%) had an affected parent. Interestingly, three individuals had affected siblings and no affected parents, one had an affected child and a second-degree relative, and the remaining 17 had second-degree relatives affected."

[So, 17 of 45, or 38% of those with a family history in this study had only second-degree relatives affected!]

Another interesting conclusion many will find disconcerting is: "In summary, we found ALS has a moderate genetic basis, with a likely heritability between 40 and 45%."

Elsewhere this is stated: "We found that the risk for ALS among first-degree relatives is 1.1%, which is similar to two other studies that estimated parent-offspring risk by examining children of affected individuals and implies the relative risk among first-degree relatives is 2.2–6.9, depending on the true lifetime prevalence of ALS in the United States. Our data also suggests that inherited factors account for roughly half of the liability for developing ALS, assuming no shared environmental factors.

[I understand this to mean that children of PALS, in general, have a 2.2x to 6.9x increased risk of being diagnosed with ALS versus the population at random, contrary to the common reassurance that children of sALS have the same risk as anyone. A 1.1% lifetime risk is 1:91. This is not a high risk at all, but is elevated]

ALS Association: Veterans Awareness Campaign Launches Today!

2011-10-18T18:58:00.001-04:00

Hey - Thank you ALS Association! We noticed! You are taking big steps to get out in front supporting our Veterans and their families with ALS.

Also - HUGE KUDOS to you in taking steps to leverage social media to extend your reach and build our community.

Keep it up, and we may get used to watching you shine!

To our ALS Families - if you or someone you loved is a veteran that has/had ALS - please consider honoring them on this wall. ALS is a service-connected disability.

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www.alsa.org

From ALS Association:
Today, The ALS Association is launching a national campaign to raise public awareness of our military heroes fighting ALS and those who have been lost to the disease. The campaign will continue through Veterans Day on November 11 and will deliver key messages about the connection between ALS and military service -- messages that draw attention to this disease and which can generate support for our cause.

An overview of the campaign is provided below. However, we encourage you to participate in the campaign in as many ways as you can, including by uploading your story and photo to our "Wall of Honor," sending a letter-to-the-editor of your local newspaper or simply forwarding our updates and alerts to friends, family and colleagues. Your efforts can make a difference not only for our veterans, but for everyone whose life has been touched by ALS.

Key Activities

Wall of Honor: Go to our website at www.alsa.org, and visit the newly created "Wall of Honor." This visual tribute recognizes our military heroes with ALS as well as those veterans we already have lost to the disease. The Wall includes scrolling photographs of veterans from across the country to help put a face on the disease and its impact on veterans. The Wall is searchable by state and branch of service. And veterans and family members can upload photos to the Wall and share their ALS story. Uploading a photo and story is easy. Simply click the link, Share Your Story, which can be found on the Wall, and follow the instructions on the website. If you are a veteran or know a veteran with ALS, we encourage you to spread the word and to join the Wall today!

Video: Videos featured on our website and distributed via social media in the coming weeks will highlight the connection between ALS and military service and also provide information about the services available to veterans and their families, including vital benefits available from the VA.

Social Media: Throughout the campaign, The Association will utilize Facebook, Twitter and YouTube to communicate key messages and information.

Letters-to-the-Editor: The Association once again will make available sample letters-to-the-editor prior to Veterans Day that individuals can easily send to their local newspapers via the Advocacy Action Center of the ALSA website.

Please keep an eye out for our Alerts and Updates over the coming six weeks which will promote new features and information. And again, we encourage you to participate in this campaign and spread the word. By doing so, you not only raise awareness and support for our military heroes, but for all people living with ALS and their families.

Thank you!

Familial ALS Discussion at the 2011 Ask the Experts

2011-10-17T20:32:00.000-04:00

Ask the Experts - 2011

Don't Miss this! Thank you ALS Association and Greg Merfeld for hosting a Facilitated Discussion providing additional resources and support for the fALS community, encouraging participation in the ALS registry, supporting advocacy and public policy issues, and more!

Following the second annual California ALS Research Summit, The ALS Association Golden West Chapter and the Muscular Dystrophy Association held a special event open to the public with ALS experts discussing the most promising developments in familial and sporadic ALS research.

The evening opened with a facilitated conversation to increase awareness of key issues facing people with familial ALS (fALS) and their families, led by Steve Gibson, Chief Public Policy Officer for The ALS Association and by Greg Merfeld, advocate and person with fALS.

Check out the YouTube Video below to see the presentation.

For more information on the event, please go to this site:

http://webgw.alsa.org/site/PageServer?pagename=GW_9_in_the_news_2011_10_12_fALS_reception_Ask_the_experts

Familial ALS - WE are the Story.

2011-10-13T08:57:00.000-04:00

I am having a brilliant discussion with my friends and fellow advocates on Facebook. It started with a thought provoking blog by Greg Merfeld asking the question..."Do We Need a National Spokesperson" .

For those who haven't noticed, our ALS community suffers for celebrities. We don't have a National Spokesperson of fame and import to rally our troops, raise our banners and generate funds to finally end this disease. To date, we are figuratively and literally orphaned in the sea of pink ribbons and rainbow banners that effectively support other worthy causes - yet also unintentionally drown out our cries for help. Do you know the colors for our ALS Cause? Red? Blue? hmmm.... Well the folks at the ALS Association did recently proclaim that a Sunflower is our official symbol. (See above logo). So perhaps a start.

I did read with excitement yesterday that Clear Channel is working with Former Massachusetts Governor Paul Celucci. They are erecting billboards in Massachusetts to help raise funds and awareness for ALS research at the University of Massachusetts - Home of Dr. Robert Brown - a premier ALS researcher. Can we do this across the Country??

http://umassals.com/

In lieu of a National Spokesperson, since one coming soon isn't likely, we started discussing the use of social media and the Internet as a way to generate attention to our cause.

One perspective is that a Spokesperson is still needed for us to help generate attention and move us forward. Are passive websites and a few tweets enough to get us where we want to go?

Another perspective maintains that exploitation of all platforms is necessary. I think this would work, but we need LOTS of help getting people to crowdsource this one!!

I would love to hear your thoughts on the matter, or better yet, if you are a celebrity looking for a cause - we will gladly adopt you. :-)

My opinion....WE Are the story! Our families and our issues would rival any reality TV show. I know that if enough people hear what ALS really is, how it impacts families, how it can affect ANYONE - that perhaps a celebrity isn't worth waiting for. We just need to use EVERY platform to get our stories out there....Traditional media, Internet, New Media, Social Media - yes, we will use it all!

Author: Pamela Woods

Perhaps our next celebrity is Pamela Woods - who just wrote her family story in a published work: Lou Gehrig's: A family afflicted

Tom Ohlson and Michelle Farr

Perhaps it is Thomas Ohlson - who represented us so well on MTV:

Perhaps it is you? Are you waiting to tell your story?

The simple truth is. It is ALL OF US!

Tell me...how do we get our stories told? Who is listening? How do we get a National Movement going to finally end this dreaded disease.

Let's not wait another day to finally make those connections!

ALS TDI - A White Coat Affair!!

2011-10-12T09:40:00.001-04:00

Please join ALS TDI for an evening of cocktails, dinner, live music, dancing & more all to benefit the research taking place at the ALS Therapy Development Institute. Thursday, November 3rd, 2011, 6pm The Fairmont Copley Plaza 138 St. James Avenue Boston, MA 02116 Please RSVP by October 17th
During the event, US Congressman Michael Capuano will be awarded the first ever "ALS TDI Lou Gehrig Award" while chairman of the board Augie Nieto will be recognized by the Board for having raised more than $30 million for the Institute since 2007. The event takes place the night before our 7th Annual Leadership Summit, which features a series of in-depth scientific presentations from the researchers at ALS TDI and "thought leaders" that share our vision of creating a world free from ALS.


ALS TDI also secured a block of rooms at the Fairmont Copley Plaza for the night of November 3rd. To make your reservation, please click here or call the hotel directly at 617-267-5300 by October 3rd. Please let them know you are with the "ALS Therapy Development Institute" group for a discounted rate.
For more information, or if you have any questions, please contact Vanessa Plant at vplant@als.net or 617.441.7230.

fALS National Summit To Be Held May 13, 2012 in Washington D.C.

2011-10-05T08:35:00.001-04:00

Re-Posted from our good friend Greg Merfeld. He has a new blog you can follow here: http://alseverydayliving.blogspot.com/

Greg is very active in the ALS community and I applaud him for his tireless advocacy! You can help families fighting ALS by contributing to his foundation (set up via VCCF) that is setting up scholarships for children of ALS families.

www.vccf.org/zcom/donation/display.do?compid=721&prodid=506

Here is Greg's blog reposted:

ALSA just announced the establishment of a new fALS Summit for 2012. This half day meeting will take place immediately prior to the 2012 ALSA National Advocacy and Public Policy Conference in Washington D.C. on May 13 beginning in the morning.

It's going to be great to be able to interact with our peers, and not having to choose to attend a fALS breakout during the larger meeting over another important topic.

They are soliciting topics and comments for meeting content by e-mailing fals@alsa-national.org. Just a few that were suggested at the UCLA fALS Meeting a few days ago were the following: Clinical Trials 101, Clinical Trials for fALS, Fast Tracking Successful Drugs/ Compassionate Use, Discovered Genes, Auto Dominant vs. Recessive Genes, Genetic Testing and Counseling, Ancestry Research, Discussions with Children/ Relatives/ Co-Workers/ Friends after Diagnosis/ Financial Planning, Health and Life Insurance Disclosures and Planning, Volunteer and Advocacy Opportunities, Living with ALS. This list is by no means all inclusive, just a starting point. Please weigh in!

My personal view is this is a very positive step and way overdue. I am awed by the contributions from people like Augie Nieto with Augie's Quest and the MDA, and Dean Rasmussen, the father of ALSA Advocacy. These individuals are not from Familial ALS Families and have still made huge, long-term impacts on the fight for a cure.

Their actions should motivate those of us that are in the fALS community. We all need to step up and participate in the cause in anyway possible. That may mean participating in clinical trial studies from our healthy relatives, volunteerism, fund raising, advocacy, or any other contribution you can muster. After all, it's our parents, children, siblings and relatives!

Pick an organization, any organization. Maybe it's one of the two national organizations - ALSA or MDA. Possibly one of the many researchers like ALS TDI, Packard, Northwestern, Mass General, Emory, Methodist, or UCSF. Groups like Augie's Quest, Project ALS, Les Turner and the list goes on. Many are very worthy and even though there is some redundancy in their efforts I have come to view their overall contributions as cumulative. When you are part of a family with a hereditary terminal illness that is very prevalent it is very easy to be negative. Let's challenge these organizations to improve in a positive way as well and be as efficient as possible, but focus as individuals on things we can control.

E-mail 2012 fALS Summit suggestions to fals@alsa-national.org.

Two Genes that Cause Familial ALS Shown to Work Together

2011-09-01T20:38:00.000-04:00

This is great news! Now...if it results in any therapeutic option remains to be seen...but this seems to advance the ball down the field a bit more....

Read whole article here:

http://www.alsa.org/news/archive/two-genes-that-cause-familial.html

September 1, 2011

NEW YORK, NY, (September 1, 2011) – Although several genes have been linked to amyotrophic lateral sclerosis (ALS), it is still unknown how they cause this progressive neurodegenerative disease. In a new study, Columbia University Medical Center (CUMC) researchers have demonstrated that two ALS-associated genes work in tandem to support the long-term survival of motor neurons. The findings were published in the September 1 online edition of the Journal of Clinical Investigation.
...
In the current experiment, the researchers examined the roles of two recently discovered ALS genes, FUS/TLS and TDP-43. Both genes are involved in the processing of messenger RNAs, which carry the genetic codes to make particular proteins. “The two genes make proteins with similar form and function, which suggested to us that they could work together, and that disruptions of either gene would affect neuronal survival,” says Dr. McCabe. A competing view was that mutations to these genes cause abnormalities in their respective proteins that are toxic to motor neurons independent of their normal functions.

...
To determine whether the two genes interact, the team attempted to cross-rescue FUS/TLS or TDP-43 mutants by forcing overexpression of the other gene. Overexpression of FUS/TLS rescued flies with TDP-43 mutations, while overexpression of TDP-43 did not rescue flies with FUS/TLS mutations. “This finding demonstrates that FUS/TLS acts together with, and downstream of, TDP-43 in a common genetic pathway in neurons.”

Whether these findings can be translated into therapy remains to be seen. “But one could imagine that if you could develop a drug or gene therapy that could make FUS/TLS more active, it might help in patients who have TDP-43 mutations,” says Dr. McCabe.

“Our results show these two genes work together in a familial ALS model,” Dr. McCabe adds. “How ALS genes cause disease, and whether other genes work together, are big questions. The hope is that if we can eventually understand how all ALS genes interact, we can figure out how to intervene.”

Making-Connections to Sporadic ALS, Familial ALS, Alzheimers, and Parkinsons

2011-08-23T05:37:00.001-04:00

Dr. Teepu Siddique (Chicago Tribune article)

Dr. Teepu Siddique and his team at Northwestern University believe they have found the guilty protein that causes the neurodegenerative disease - ALS - both the sporadic and hereditary/familial forms of the disease.

Finding a common connection is very meaningful to us - as this removes doubt that looking at the SOD1 mouse model (for the hereditary form of the disease) has benefit for all in the ALS family.

The researchers also believe that this protein, Ubiquilin 2, plays a role in two other proteinopathies - Alzheimer's disease and Parkinson's Disease. There was always a strong suspicion these diseases were related - now we know a little more about the role of this protein and its role in cleaning up the toxins from our neural pathways.

This finding advances the ball in finding definitive roots of the diseases so researchers can target existing therapeutic options and/or design new ones!

There are a number of articles on the topic, so I won't belabor the details here, but I will provide a a few links at the end so you can read more. My friend Eric did a great job writing it up here: http://friends4eric.blogspot.com/

The Communities fighting ALS, Alzheimers and Parkinson's must join forces to quickly find a viable treatment to fight these diseases! There is no time to waste! This is a fantastic move forward - and we must rally together lest we squander this amazing find!

Major ALS Breakthrough from Northwestern News on Vimeo.

Read More about the discovery at these links:

Learn more about Alzheimers: http://www.alzfdn.org/

Learn more about Parkinson's: http://www.parkinson.org/

Never Goodbye - Just til we meet again, Megan!

2011-07-17T15:19:00.003-04:00


Megan Mishork

"When it is warm white light time, can my dad be there? And if there is enough room Auntie Di should be there too. I heard heaven can look like any place we want. If that is true, I would love my heaven to look just like Kuiai. This is the most peaceful place on earth. I would spend eternity swimming with sea turtles and hiking to waterfalls. I think sometimes we humans forget about this beautiful planet you create..."

YFALS

Megan Mishork, was diagnosed with ALS at the age of 24. ALS runs in her family and has been traced back at least five generations.

I can't write more fully about Megan just yet - my heart just doesn't have it. I actually didn't know her in person - we were facebook buddies. We exchanged emails and notes where her love, exuberance and tenacity was quite evident.

We promised a few months ago we would write a blog describing her feelings about familial ALS and what would she like to tell other families facing hereditary disease. What were her opinions on genetic testing? How does a young person, like Megan, even begin to approach life with the fear of facing a disease like familial ALS.

Then, her health declined over the last few weeks. She sent me a note last month apologizing for the delay, but that she really wanted to write. She asked if I would invite her family and boyfriend into the ALS Caregivers Facebook site, because she knew they needed support too. That is just like her ...

______________________________

So many things to do...of course there will be time. NOT.

Megan, today, when I heard your body died - so did a little piece of my heart. I take solace knowing your spirit is free!

We won't get to do that blog, but Megan, please know that every story I write will reflect a bit of you in it. I don't have your wit, or your style, but I share your passion. You inspire me - here in person, or from heaven, you keep us all moving toward finding that cure.

Dear readers, please take a moment to read Megan's blog - You will see why she is loved by so many in our community.

gimpgirladventures

_______________

A few pictures of Megan - pictures don't do her justice, but you get the idea: lovely, energetic, full of life.

ALS Sucks.

Help end ALS and Text "YFALS" to 20222 to make a $5.00 Donation to the Young Faces of ALS.

Learn More: www.als.net

MORE COWBELL! Tri-State Trek and ALS TDI

2011-07-15T18:14:00.003-04:00

http://tst.als.net

JULY 22-24, 2011

Where did the time go!! THIS IS IT!

I am off to join the Trek for 2011! This is my first year (rookie) both as a cyclist and riding the Trek.

Tri-State Trek = 270 miles from Boston to New York!

The Tri-State Trek raises money and brings attention to the work ALS TDI is doing to find an effective treatment for a horrific disease.

The Trek began in 2003, when 16 cyclists pedaled from Boston to New York and raised about $30k for ALS research. The event has since grown to 240 riders, raising over 2.1 million dollars. People ride to see changes in medical science, and the spectators who cheer them on with cowbells let them know they're not alone on their bikes.

I would be fibbing if I didn't say I was nervous about the ride, but I am so grateful to be surrounded by loving friends and family supporting all cyclists along the way!! You can check out our team: "Team Driven for a Cure" on Facebook!

http://tst.als.net/smfarr

HELP US END ALS!

YOU CAN HELP! We need MORE COWBELL!!!! If you would like to support Making-Connections on this ride - please click here-----> http://tst.als.net/smfarr

All proceeds go to ALS TDI. If you want to learn more about ALS TDI - see below..or better yet..visit their website - www.als.net

About the ALS Therapy Development Institute (ALS TDI)

The mission of the ALS Therapy Development Institute (ALS TDI) is to develop effective therapeutics that stop ALS as soon as possible. Focused on meeting this urgent medical need, ALS TDI executes a robust discovery program, as well as a multi-pronged approach to validate potential therapeutics; including small molecules, protein biologics, gene therapies and cell-based constructs. Built by and for today's patients, the Institute's unique, industrial-scale platform allows for the development and testing of dozens of potential therapeutics each year.

A federally registered 501(c)3, ALS TDI was the world's first nonprofit biotechnology company, and is currently the world's largest ALS research facility. Based in a state-of–the-art research facility in Cambridge, MA, a team of about 30 professional scientists, researchers and technicians focus on the single goal of curing ALS. For more information please visit www.als.net.

I will be tweeting along the way, so you can follow twitter hashtag at

#tristatetrek!

I will post pics as I can and sharing all that is happening!! follow me

@smfarr!

Driving Breakthroughs in ALS: Prize4Life and the $1M ALS Biomarker Prize

2011-07-14T05:19:00.000-04:00

Avichai Kremer, co-founder and CEO of Prize4Life, Inc.

Innovation Through Collaboration and Competition

Little is known about what causes ALS and only a few companies develop ALS drugs, so Kremer and two of his Harvard colleagues queried scientists and industry executives about the gaps that have prevented researchers from finding a cure. Companies said that they needed some basic research tools to reduce the cost of the development, like a biomarker – a better way to track disease progression. So Kremer and his classmates began Prize4Life, Inc., a non-profit organization employing business theories to stimulate research, which announced in 2006 that they would give $1 million to anyone who could come up with such a biomarker. The ALS Biomarker Prize program recently awarded $100,000 in progress prizes, and the organization’s second prize, the Avi Kremer ALS Treatment Prize, hits its one-year anniversary in October 2009. (http://www.innovationfatigue.com/2010/02/prize4life/)

At their recent A Prize4Life Gala, they premiered a short video featuring some of the top minds in the ALS academic, clinical, and industry communities discussing the horrific nature of this disease, why it so desperately needs more funding and attention, and how Prize4Life is using its unique and powerful model to catalyze breakthroughs and accelerate the development of treatments and a cure. Definitely worth the 7 minutes of your time to check out!

About Prize4Life

Prize4Life was founded by a group of Harvard Business School students when one of them, Avi Kremer, was diagnosed with ALS at the age of 29. Prize4Life works to accelerate the discovery of a treatment and a cure for ALS by using powerful incentives to attract new people and ideas, and to leverage existing efforts and expertise in the ALS field. Among other program initiatives, the organization currently administers the ALS Biomarker Prize Challenge, the Avi Kremer ALS Treatment Prize, and the ALS Forum.

This model of innovation is now found throughout government and industry and is helping to close the gaps between research, innovation and tangible results.

Will it pay off? Can we incentivize innovation for a cure for a tidy sum of $1 million dollars? Will innovation and competition help us all to make connections?

This topic will be discussed Monday, July 18 2011 at a new conference in Bethesda, MD, "Crowdsourcing: The Art and Science of Open Innovation" .

I can't attend (dang it), but WOW - it sounds great! If anyone is going, please tweet me @smfarr !!

Clinical Trials & Familial ALS (fALS): An Interactive Webcast

2011-06-27T16:38:00.000-04:00

http://www.alsconsortium.org/

DON'T MISS THIS!

Thanks Prize4Life for reminding us about

Clinical Trials & Familial ALS (fALS): An Interactive Webcast

(click to register)

The Northeast ALS Consortium http://www.alsconsortium.org/

will host a webinar on Wednesday, June 29^th at 3PM EDT covering the most recent clinical research in familial ALS, including the SOD1RX study and the arimocolmol study.

Dr. Benatar, Chief of the Neuromuscular Division at the University of Miami, and Dr. Miller, Assistant Professor of Neurology at Washington University School of Medicine will lead the webinar and a question and answer session afterward.

FALS Connect! Partnering to Promote Research!

2011-06-03T05:32:00.000-04:00

https://fals.patientcrossroads.org/

Do you have familial ALS or are you a blood relative of someone with familial ALS? Now there is a place to register to help connect to other fALS families and help researchers make connections!

Finally - something for our Families battling familial ALS! This new and innovative effort just kicked off and we need your help to make it a success!

The ALS Research Collaboration (ARC) has teamed with the ALS Association and the Northeast ALS (NEALS) Clinical Trials Consortium to create fALS Connect!!

The fALS Connect registry aims to connect fALS families with scientists who are engaged in fALS research. The goal of the registry is to accelerate progress towards finding a cure for this disease. We encourage both affected individuals and unaffected family members to sign up for the registry.

Registered members may complete a profile in order to provide basic information about themselves and how the disease has affected them and their family. There is also an opportunity to upload the results of genetic testing and medical records. Registered members may view anonymous summary information about other people who have joined the registry. fALS Connect will periodically send registered members information about opportunities to participate in research studies for which they may be eligible.

Currently there are many opportunities to participate in clinical research. These include three ongoing clinical trials for people who are affected with familial ALS, a study of people who are at genetic risk for developing ALS, as well as multilpe efforts to identify new genes that may cause ALS. To learn more email fals@med.miami.edu .

It is important to note that participation in the fALS Connect Registry does not mean that you also have enrolled in the National ALS Registry, which is maintained by the U.S. Centers for Disease Control and Prevention (CDC). The registries are different and information in fALS Connect is not shared with the National ALS Registry. If you are a person with ALS, we encourage you to sign up for BOTH registries, as the National ALS Registry also has a component focused on familial ALS. To enrol in the National ALS Registry, visit the CDC’s ALS Registry website at www.cdc.gov/als

Register for fALS Connect HERE!! https://fals.patientcrossroads.org/

Recap of ALS Awareness Day in DC - 2011

2011-05-14T15:19:00.000-04:00

Photo credit: ALS Association

May 8-May 10 of 2011 was the Annual ALS Advocacy Event! This was a great opportunity to get together as one community and bring our voices to the policy-makers of DC. It also allowed us to attend a few break out sessions on topics bringing us up to date on the latest research, stem cell activities and familial ALS. The ALS Association Policy priorities for 2011are here: http://www.alsa.org/advocacy/legislative-prorities.html

ALS TDI did a great recap of the event as well so I won't repeat I will just direct you to their site to read for yourselves!

http://www.als.net/News/Article.aspx?id=5392

This year was my first year as a speaker - and as you might have expected I covered the issue of Familial ALS. My fellow speakers were neurogeneticist Nailah Siddique, Ph.D from Northwestern University. and Ms. Deb Quinn - you can find her as a previous guest blogger on Making-Connections here.

Photo Credit: Sharon Iles

Dr. Siddique opened up with the "Intro to Genetics" which is always appreciated - especially for the newer families to our community. She then discussed Genetic Mutations know to cause ALS currently under research. It is shocking to see how much is still unknown in the research community and they hold fast to the few discoveries they have. I have asked Dr. Siddique for a copy of her slides, and when I get them I will post them to share. Lots of very useful information for us!

Then came Deb! She has ALS and comes from a familial ALS family. She discussed the impact of this hereditary disease on her family and what it has meant to them over the years. Hearing a family so devastated by ALS leaves one wondering why more can't be done. There wasn't a dry eye in the house, and I hope you take a moment to see her video here on YouTube captured by a dear friend Sharon Iles.

Of course, Deb and Nailah are hard acts to follow - but based on input from you guys...I decided to brief about how "Familial ALS Can be a Secret". I discussed our personal family experience on the discovery of ALS in the clan, and how we have traced the genealogy of the family (to include the genetic mutation) over 12 generations. I ended with how folks can start their own family tree. Here is a copy of my slides: http://www.slideshare.net/smfarr/alsa-2011-presentation

Alsa 2011 presentation

View more presentations from Sandra Michelle Farr

A special surprise was Dr. Benatar from University of Miami flew in just for the fALS session. Thank you Dr. Benatar! We can always use your support! What a nice surprise!! Visit their site here: http://www.als-research.org/index.html

Our friends from ALS TDI also attended the session. How great are they? ALSTDI friends Carol O'Keefe Hamilton; Robert Goldstein; and CEO Steve Perrin were all there at ALS Advocacy Day! I stole Rob's ALSTDI pin. hee. I will wear it with pride!

There was a few minutes left for Questions/Answers. The audience was very interested in genetic testing and health informationprivacy - which may be great topics for next year! Perhaps we can get a colleague from Genetic Alliance (www.geneticalliance.org) to discuss GINA and what it really means for protection against discrimination based on genetic profile. There is a real fear of being labeled both in one's personal life as well as professional life. It might also be useful to do a panel session on "to test" or "not to test" and have people discuss their experiences with knowing whether or not they carry a genetic mutation. There is a lot of baggage either way - and there are some salient life stories on both sides that should be heard. In the end...testing is an intensely personal decision...and folks should be aware of the complicated aspects of such a decision.

We then ended the day and ventured off into the Town Hall. This was the first time that ALSA leadership has conducted such a forum! How wonderful to see the key ALSA org leadership taking questions from the audience. Jane Gilbert underscored the need for collaboration across the ALS research field - ALSTDI, MDA and the ALS Association particularly. She extended the invitation and all organizations were well represented. As our good friend ALS Advocacy tells us, "We need to get the word 'competition' out of our vocabulary"! Thank you all! You guys are brilliant in your own right, but together we can be amazing! You can catch a recap on twitter if you go back through the #alsadvday11 hashtag!

We hope next year ALS Association broadcasts the seminars and Town Hall over the web for our PALS and others who couldn't be there. ALSA is also venturing into social media! Let's encourage them to go this route so they can broaden their audience and get even more support!

Special thanks to Steve Gibson of ALSA who believed in us and continues to keep Familial ALS on the schedule. Jane Gilbert commented at the end of the session that she was moved by the fALS session and she agreed she will make it a standing part of ALS Advocacy Days!! WIN!

I ended my journey with a visit to the Piece-by-Piece Display. It cannot be missed! Here are some pics from my visit:

Here I am with Deb (Middle) and Sharon (Left) - Thank you ladies for making this visit Extra Special!

Do you have questions about ALS Advocacy Days? Please drop me a line! If you know of other sites that recapped the event, please let me know by dropping a comment!

Thank you!

Let's Get Together Again for Familial ALS at ALS Advocacy Day 2011!!

2011-04-28T06:07:00.001-04:00

Please register and join us in Washington, DC!

We are so excited to see that the ALS Association put Familial ALS on the National ALS Advocacy Day Conference agenda again this year!

We have so much to report and there have been so many amazing discoveries!

Last year at ALS Advocacy Day in DC, Dr. Benatar* from Miami came to discuss Familial ALS with a small group of interested folks. He did a great job of educating the group on exactly what is Familial ALS. This meeting also gave our families a chance to finally meet and share contact information!

We continued our discussions over the last year. Familial ALS families have shared our stories - our loves, our fears, and our concerns. You have followed our journey on this blog, and you can join us on Facebook too! More families are joining us as they are learning more and want to help increase awareness of familial ALS.

How wonderful that we have an opportunity to meet again and meet our new families! You won't want to miss this!

On May 9th, 2011, we will gather in Washington, DC to discuss Familial ALS. What a great opportunity to get together and share what we have all learned over the last year. There will be a discussion on genetic counseling, and a quick intro into how to start your own family tree. We are planning for a Q&A session so we can learn more from each other.

Ms. Deb Quinn and I will present our stories - our amazing family connection - and how our ALS families are getting connected to learn and share even more.

Please register and join us for this great opportunity! Do you have a question that you need answers to? Leave a comment below with your question and I will see if I can get the answer to you for the highly interactive meeting

I look forward seeing everyone and making-connections to our new friends!

Cheers,

Michelle Farr

* Dr. Benatar is the director of the Neuromuscular Disorders Division in the Department of Neurology at the University of Miami.

The ALS Registry - Let's Make this Work!

2011-04-11T05:26:00.000-04:00

“The establishment of a registry will bring new hope to thousands of patients and their families that ALS will no longer be a death sentence.” - U.S. Representative Eliot L. Engel 10/15/2007

The registry will gather and organize information about potential and known risk factors and symptoms of ALS. The information can help researchers evaluate shared risk factors common among patients, such as heredity or possible environmental exposures, and help estimate the number of ALS cases diagnosed each year.
“A National ALS Registry provides researchers and physicians with more thorough information about ALS that will further empower them in the fight to treat and possibly prevent this disease,” said Christopher Portier, Ph.D., director of ATSDR. “Today, the cause or causes of ALS are largely unknown; this is the first nation-wide registry created to enhance our knowledge about this disease.” - http://www.atsdr.cdc.gov/news/displaynews.asp?PRid=2493

That is the hope that this Registry brings! By getting people with ALS to document their condition - perhaps we can start to get real data on the expanse of this disease and begin to make connections as to the causal factors and (dare we to believe) some real therapeutic options!

However - this $15 million registry opened up for business 6 months ago - and still has some growth to do if it is to accomplish all that we need it to do!

Rob Tison

Please see this amazing letter by Rob Tison (A person with ALS) to Dr. Horton of the CDC.

In this letter Rob details the work still to be done to make this effort more useful in areas of research and analysis. He smartly argues that the current registry is falling short of its intended goals. WE CAN AND MUST DO BETTER!!

In researching familial ALS - I have seen generations of impact - and I have had some personal frustrations as the registry didn't allow for previous deaths to be entered - nor did it allow for "suspect" ALS cases. For those that read my blog you can imagine my frustration as I have over 12 generations of data that can be input to help us identify clusters and familial connections.

Even in Rob's case - he says he has sporadic ALS - but he has another first-degree relative with it too? Coincidence? What will the registry tell us about his condition?

Time is of the essence here. Please CDC - listen to our plea.

What ideas do you have? You can comment below - or even better - please send an email to dhorton@cdc.gov

Oh and...

If you have ALS, or a loved one with ALS - Please register!!

https://wwwn.cdc.gov/als/Default.aspx

Making-Connections

ALS Assistive Technology - Post on Samsung "Eye Tracking" Phone

ALS Worldwide Newsletter - by Barbara and Stephen Byer

It is all about connections...

Getting to Know "ALS -Treat Us Now"

“Wouldn’t we all feel foolish if two years from now there are studies of these drugs that show they are useful, and we bypassed this chance two years earlier to give them to people and help them?.... I am less worried about false hope than I am about false hopelessness.” –Joe Brewer

Women with ALS take to the skies to battle disease

Hopkins Launches New ALS Research Center with $25 Million Gift

What do you think?-------------

Hopkins Launches New ALS Research Center with $25 Million Gift

Leadership is key! "Neurology 'tsar' needed as services 'not up to scratch'"

--------------------

Neurology 'tsar' needed as services 'not up to scratch'

Emergency hospital admissions for people with neurological conditions like Parkinsons and motor neurone disease have risen by a third after a social services funding freeze, MPs have warned.

http://www.telegraph.co.uk/health/healthnews/9146666/Neurology-tsar-needed-as-services-not-up-to-scratch.html

New Genetic Discovery in the ARC Newsletter for January!

New fALS Connect Newsletter!

New Insight on Inheritance of ALS

ALS Association: Veterans Awareness Campaign Launches Today!

Familial ALS Discussion at the 2011 Ask the Experts

Familial ALS - WE are the Story.

ALS TDI - A White Coat Affair!!

fALS National Summit To Be Held May 13, 2012 in Washington D.C.

Two Genes that Cause Familial ALS Shown to Work Together

This is great news! Now...if it results in any therapeutic option remains to be seen...but this seems to advance the ball down the field a bit more....

Making-Connections to Sporadic ALS, Familial ALS, Alzheimers, and Parkinsons

Never Goodbye - Just til we meet again, Megan!

Megan Mishork, was diagnosed with ALS at the age of 24. ALS runs in her family and has been traced back at least five generations.

I can't write more fully about Megan just yet - my heart just doesn't have it. I actually didn't know her in person - we were facebook buddies. We exchanged emails and notes where her love, exuberance and tenacity was quite evident.

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So many things to do...of course there will be time. NOT.

Megan, today, when I heard your body died - so did a little piece of my heart. I take solace knowing your spirit is free!

We won't get to do that blog, but Megan, please know that every story I write will reflect a bit of you in it. I don't have your wit, or your style, but I share your passion. You inspire me - here in person, or from heaven, you keep us all moving toward finding that cure.

Dear readers, please take a moment to read Megan's blog - You will see why she is loved by so many in our community.

gimpgirladventures

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A few pictures of Megan - pictures don't do her justice, but you get the idea: lovely, energetic, full of life.

ALS Sucks.

MORE COWBELL! Tri-State Trek and ALS TDI

About the ALS Therapy Development Institute (ALS TDI)

Driving Breakthroughs in ALS: Prize4Life and the $1M ALS Biomarker Prize

Clinical Trials & Familial ALS (fALS): An Interactive Webcast

FALS Connect! Partnering to Promote Research!

Recap of ALS Awareness Day in DC - 2011

Let's Get Together Again for Familial ALS at ALS Advocacy Day 2011!!

The ALS Registry - Let's Make this Work!

What do you think?
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