Rare Disease Family in the Limelight! The TODAY Show – Tuesday June 22

Derek Seymour, an 11 year old boy with the rare disease Joubert’s Syndrome, will be on the NBC TODAY SHOW tomorrow morning JUNE 22ND.  Please tune in and spread the word about our rare disease friends giving national attention to our community. Al Roker will be visiting the Eagle Mount program in Bozeman, Montana where Derek Seymour participates in activities for children with Special Needs.

Eagle Mount, a program for kids with special needs and/or cancer has been developed to help provide therapeutic and recreational activities for these children. Derek skis, swims, rides horses, plays golf, has Saturday night outs, etc. “It’s an incredible program that was started by parents who didn’t even have kids with special needs”, states Kelly Seymour, mother of Derek. “Eagle Mount was built because the founders saw a need and they wanted to help! This community has been been an absolute blessing to us.”

Derek will be riding Winnie, one of Eagle Mount’s horses which was donated to Eagle Mount by Tom Brokaw and his family who have been critical supporters of Eagle Mount for many years.  Tune in, Tuesday June 22 when the TODAY show airs in your time zone.

Social Security, Medicare and Obama-care: The Real Story

When my daughter announced that she’d received a small scholarship for the college of her choice, and that I’d pay for the remainder, I had two simultaneous thoughts: I can’t afford it, and it has to be done. Decades ago, When America began providing guaranteed income and medical care for the elderly, we faced the same dilemma: We can’t afford it, and it has to be done. At the time, Republicans dutifully warned of the cost, pointing out that entitlement programs for the elderly would grow out of control. They were right. Costs for Medicare and Social Security spiraled, probably more from the sheer fact that our population is aging, rather than mismanagement, but is that the whole story? Not really. The real story is that America did the right thing. We took proper care of the men and women who made sure the world wasn’t ruled by Nazis, who built our highways and schools and factories, who gave us TV and movies and modern medicine. The cost for such humanitarian extravagance was – and indeed continues to be – breathtaking, but in the end, that doesn’t matter. We’re a civilized nation, and we don’t let our seniors spend their final years in Dickensian squalor.

But there’s more. America has just decided that we won’t let citizens hit by catastrophic illness wither away out of sight. We won’t tolerate breadlines and homeless shelters for people who need appendix surgery when they find themselves in between jobs. We decided that such indifference is not American, and for such a decision, we should be right proud of ourselves. So can we afford to offer such a benefit to our citizens? Perhaps not. Is Obama fibbing when he says all this can be done fairly cheaply? Almost certainly he is. We can hope that having a healthier working force will lead to increased worker productivity, which in turn, will decrease budget deficits. And yes, America enjoyed a Clinton-era budget surplus after the dark, recession-ridden years of Bush Sr, but there’s no guarantees we’ll see that again. Honestly, my guess is that we younger people will get 70 cents for every dollar we put into these dubious national kitties, and probably less. Of course I’m not pleased, but I don’t want to live in a country that lets its citizens just go off in a corner and die. So with apologizes to Guns ‘n Roses, this is not “the Jungle,” it’s America, and I’d prefer to remain proud of it, even if it means less money in my pocket.

Danny Doyle

562 338 1374

Glue Dots International Supports the Global Genes Project

An Initiative to Raise Awareness for Children Living With Rare Diseases

New Berlin, WI (PRWEB) April 1, 2010 — Glue Dots International (http://www.gluedots.com), a leader in the adhesive industry, is proud to announce the company’s support of the Global Genes project- an initiative designed to raise awareness about the prevalence of rare diseases that affect millions of children worldwide. Approximately 75% of those affected by rare diseases are children, making the rare disease category one of the most deadly and debilitating for children worldwide. Glue Dots® is honored to have their products bond together the ribbons of awareness, in the hope that these ribbons will bond and unify support from around the world.

Earlier this year the Children’s Rare Disease Network (http://www.crdnetwork.org) launched the Global Genes Project , an initiative designed to raise awareness about the prevalence of rare diseases. Advocates organizing the campaign selected a blue jeans denim ribbon as the international symbol of hope for children suffering from life threatening and chronically debilitating diseases.

“We are excited to join forces with Glue Dots on our mission to find treatments and cures for rare diseases. Together we will spread the word by bonding with people around our cause,” said Nicole Boice, founder of Global Genes Project.
“We’re very lucky to have a product that can help build awareness for such a worthy cause as Global Genes. When they contacted us with their heartfelt story, we were honored to be the adhesive bonding the ribbons that represent millions of children afflicted by rare diseases,” said John Downs, President of Glue Dots International. “We had no idea how many children were being affected and we want to help spread the message.”

Glue Dots® helped raise funds and awareness by organizing a company wide awareness week which led up to World Rare Disease Day on Feb. 28th, 2010. In the upcoming months Glue Dots is also planning different activities with Global Genes to promote awareness all year round.

“World Rare Disease Day is only the beginning of our partnership with Glue Dots International,” said Nicole Boice, founder of the Global Genes Project. “There are limitless ways that we can collaborate and we are looking forward to working together with Glue Dots and their customers through innovative programs. Together we will spread the word by connecting and bonding with people around our cause.”

To learn more about Glue Dots® partnership with Global Genes, please visit www.globalgenesproject.org or facebook/gluedotsfans.

Glue Dots International, founded in 1995, revolutionized the adhesive industry with its easy-to-use pressure sensitive products. The company holds several patents and continues to lead the industry in the development of new, efficient adhesive products for consumer, industrial and specialty markets. Glue Dots International, headquartered in New Berlin, Wisconsin, has operations in the United States, United Kingdom and Asia.

PBS To The Contrary – Part 3, Technologies Impact on Rare Disease Diagnosis

Diagnosing Rare Disease in Children – The Role of DNA Sequencing – Segment 3: March 26-28

With the generous support of Life Technologies Foundation, PBS’ To The Contrary looks at DNA sequencing technology and the benefits it holds for children battling rare disorders.

There are close to 7,000 rare diseases affecting 25 million children and adults in the U.S. alone. Nicole Boice, Founder and President of The Children’s Rare Disease Network says these children and their families often face delayed diagnoses, and very few treatment options.  Boice receives calls everyday from parents in a relentless search to find any information on their child’s disease. Joe and Retta Beery know all too well the stresses and heartbreak of having a child with a rare condition. The Beery’s twins Alexis and Noah suffer from dopa-responsive dystonia, but weren’t diagnosed with the condition until they were five. Now 13, the Beery twins eventually found life-altering treatment, but not before several emotionally and physically draining years battling the unknown. In the third and final segment of a three-part series on DNA sequencing and children with rare diseases, PBS’ To The Contrary investigates how rapidly developing sequencing technology will be able to help diagnose, treat, and potentially cure rare conditions from the onset of symptoms. Tune in the weekend of March 26^th for Part III in this three part series, as the Beery family shares their story of hope and survival for the rare disease community.

“We spent five and a half years searching for what in essence is a relatively simple problem to solve. And it’s in those five and a half years as a parent that there would have been nothing that you wouldn’t have given to make them more comfortable, to get them to where they are today. And I think in sequencing, having had the ability to identify this problem early on, right after birth, would have been phenomenal. – Joe Beery, Parent

“What it [DNA sequencing] provides this community is unprecedented. It’s what we’ve been waiting for.” - Nicole Boice, Founder/President, The Children’s Rare Disease Network

Click here to link to the show.   http://www.crdnetwork.org/news/pbs.php

Geoffrey Beene CEO honored by Research America’s for medical research advocacy

The Rare Disease Community has a new champion! Geoffrey Beene with it’s Rock Stars of Science initiative will bring attention to the rare disease community during it’s next campaign. The initial campaign was met with much success, promoting some of the communities science rock stars like, Dr. Francis Collins and Dr. Eric Topol. Click here for more information on this award http://www.mrketplace.com/content/features/issue-overview/news/single-news-page/article/geoffrey-beene-ceo-honored-for-medical-research-advocacy/

Nicole Boice
nicoleb@rareproject.org

Global Jeans Hits The Scene

Global Jeans Hits The Scene
03.09.2010
Article By: Bill Stadick – 15 Gold

The Global Genes Project is a grassroots effort to raise awareness and support for literally millions of children and adults who suffer from various rare genetic disorders – diseases with fewer than 200,000 reported cases worldwide. In all, 7,000 rare diseases have been identified, affecting more than 30 million Americans.

The basic idea behind the campaign is to make jeans and jeans ribbons synonymous with rare gene disorders in much the same way pink is associated with breast cancer awareness. For diseases that literally have only hundreds of reported cases like Joubert Syndrome or Niemann-Pick Type C, it’s incredibly difficult for parents and others to make their voices heard. By rallying around jeans and jeans ribbons, this will hopefully change in the future.

Sunday, February 28th, was World Rare Disease Day 2010 and two Milwaukee Sting teams – 15 Gold and 16 Black – joined the Global Genes Project effort by wearing jeans ribbons on their warm-ups. Coaches Doug Hext and Pat Houk also wore jeans as they coached. The sign that the players are holding says, “Hope – It’s in our genes.”

http://www.milwaukeestingvb.org/07Index.asp

Consumer Group Sues Over Health Insurance Increases

Burrill Report
Podcast: March 8, 2010

Anthem Blue Cross, Californias biggest for-profit health insurance company, has been on the hot seat lately. Its plan to raise premiums for individuals by as much as 39 percent landed the CEO of its parent company, Wellpoint, in front of a Congressional committee and reignighted efforts in Washington to pass healthcare reform legislation. Now the advocacy group ConsumerWatchdog has filed a class-action lawsuit against Anthem over the rate increases saying they violate California law. We spoke to Jerry Flanagan, healthcare policy director for ConsumerWatchdog, about his groups lawsuit, what Anthems actions mean for reform, and why the proposed healthcare legislation wouldnt have prevented Anthem from instituting the rate increases in the first place. http://www.burrillreport.com/article-2193.html

Good news from the FDA (yes, the FDA!)

Transformation is happening – FDA and rare disease!

We have gotten so accustomed to hearing criticisms of the The U.S. Food and Drug Administration which, like most criticism, is sometimes valid, sometimes not). Here are two new developments worth talking about! First, in an admirable show of cooperation, the FDA reached an agreement with the European Medicines Agency to allow sponsors of approved orphan drug and biologic products to submit a single annual report to both agencies. Read more here: http://www.prnewswire.com/news-releases/international-collaboration–fda-and-european-medicines-agency-agree-to-accept-a-single-orphan-drug-designation-annual-report-85607477.html

And the FDA and NIH have announced too important collaborative efforts designed to speed both translational research (which is one step before clinical) and regulatory science – both of which are directly related to the speed with which new therapies reach the clinic and actual patients. Read more here: http://media-newswire.com/release_1113463.html

Jonathan Jacoby
jonathan@rareproject.org

A ‘Real Life’ Dr. House – Watch Discovery Health’s ‘Disease Detectives Feb 28, 2010

A REAL-LIFE “DR. HOUSE” INSIDE THE NIH’S UNDIAGNOSED DISEASE PROGRAM

–World Premiere Special Airs on Rare Disease Day, Sunday, February 28, at 8 PM (ET/PT)–

(Silver Spring, Md.)— When physicians and medical experts are left baffled, there is one last place to send the most puzzling and dire cases—the Undiagnosed Disease Program (UDP) at the National Institutes for Health (NIH).

On Sunday, February 28, at 8 PM (ET/PT), Discovery Health brings viewers inside the UDP for the first time with DISEASE DETECTIVES, an hour-long special following a real-life “Dr. House” and his team of experts as they attempt to solve real medical mysteries and help desperate patients in just five days.

DISEASE DETECTIVES profiles Dr. William Gahl, the head of the UDP, and his multidisciplinary team of dedicated experts as they attempt to solve riddles that have perplexed other medical researchers for years. Though thousands of cases are submitted to the UDP each year, only a fraction can be accepted for examination. Admitted patients journey to NIH headquarters in Bethesda, Md., for five full days of round-the-clock testing and analysis by Dr. Gahl and his team in what often represents their last hope for a resolution.

In the special, Dr. Gahl and his team take on two extremely different but equally perplexing cases. The first involves Jayden, a 7-year-old boy who travels to the UDP with his young parents. Jayden’s developmental delays have led some doctors to believe that he could be autistic, but the fear also exists that he could be suffering from a potentially life-threatening condition. DISEASE DETECTIVES also follows Jon Page, 52, whose life has been severely disrupted by a strange condition involving a constellation of symptoms—from shaking, to muscle weakness, to chronic gastrointestinal issues. Working against the clock, Dr. Gahl and the UDP team struggle to find real answers for both Jon and Jayden’s perplexing conditions.

“You see ‘racing for a cure’ plotlines every day on scripted TV and in major motion pictures, but with DISEASE DETECTIVES, you’re seeing the genuine article.” said Alon Orstein, executive producer for Discovery Health. “This is an extremely dedicated and talented team of medical professionals whose mission is to find answers to questions that have haunted patients for years.”

DISEASE DETECTIVES premieres on February 28, which also is Rare Disease Day 2010, a global event aimed at raising awareness of the millions around the world living with rare and undiagnosed conditions. In the United States, Rare Disease Day 2010 is presented by NORD, the National Organization for Rare Disorders. Discovery Health is serving as media partner for the event for the second consecutive year. More information on Rare Disease Day and NORD can be found at www.rarediseases.org.

DISEASE DETECTIVES is produced for Discovery Health by Discovery Studios. For Discovery Health, Alon Orstein is executive producer, and for Discovery Studios, Robin Sestero is executive producer.

About Discovery Health:
Discovery Health Media includes the Discovery Health and FitTV television networks and online assets including www.discoveryhealth.com, as well as its Continuing Medical Education (CME) business and Discovery’s first stand-alone VOD service, Discovery Health On-Call. Discovery Health Media is part of Discovery Communications (NASDAQ: DISAD, DISBD, DISCK), the world’s number one nonfiction media company, reaching more than 1.5 billion cumulative subscribers in over 170 countries. Discovery empowers people to explore their world and satisfy their curiosity through 100-plus worldwide networks, led by Discovery Channel, TLC, Animal Planet, Science Channel, Planet Green, Investigation Discovery and HD Theater, as well as leading consumer and educational products and services, and a diversified portfolio of digital media services including HowStuffWorks.com. For more information, please visit www.discoverycommunications.com.

Compassionate Allowances expanded by Social Security Administration

Expedited review of disability applications from people with severely disabling conditions was announced this morning in a press release by the Social Security Administrations, Michael Astrue.

The Compassionate Allowances program, launched under Mr. Astrue’s leadership in 2008, began with a list of 50 diseases, including 25 rare diseases and 25 cancers. This is the first expansion of the disease list.

The Social Security Administration (SSA) selected the 38 diseases from ones recommended during public hearings and a process of information-gathering. NORD’s Medical Advisory Committee provided input to SSA during this process, as did medical experts from the National Institutes of Health and other organizations.

Mr. Astrue has noted that he and his staff intend to continue to identify additional conditions that should be added to the Compassionate Allowances list.

Social Security Adds 38 New Compassionate Allowance Conditions

Expansion Will Speed Benefits to Thousands of Americans with
Disabilities

Michael J. Astrue, Commissioner of Social Security, today announced that the agency is adding 38 more conditions to its list of Compassionate Allowances. This is the first expansion since the original list of 50 conditions – 25 rare diseases and 25 cancers – was announced in October 2008. The new conditions range from adult brain disorders to rare diseases that primarily affect children. The complete list of the new Compassionate Allowance conditions is attached.

“The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer’s disease,” Commissioner Astrue said. “The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years.”

Compassionate Allowances are a way of quickly identifying diseases and other medical conditions that clearly qualify for Social Security and Supplemental Security Income disability benefits. It allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals. In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer’s Association, the National Organization for Rare Disorders, and other groups.

“The diagnosis of Alzheimer’s indicates significant cognitive impairment that interferes with daily living activities, including the ability to work,” said Harry Johns, President and CEO of the Alzheimer’s Association. “Now, individuals who are dealing with the enormous challenges of Alzheimer’s won’t also have to endure the financial and emotional toll of a long disability decision process.”

“This truly innovative program will provide invaluable assistance and support to patients and families coping with severely disabling rare diseases,” said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD). “On behalf of those patients and families, I want to thank Commissioner Astrue and his enthusiastic team for creating and now expanding a program that will have a direct impact on the quality of life of thousands of individuals.”

“The initiative not only assists those whose applications are quickly processed, but also assists those whose applications need more time and attention from SSA adjudicators,” said Marty Ford, Co-Chair, Social Security Task Force, Consortium for Citizens with Disabilities. “We are pleased to see today’s expansion and look forward to working with Commissioner Astrue on further expansion of this decision-making tool and other ways to expedite determinations and decisions for disability claims.”

“We will continue to hold hearings and look for other diseases and conditions that can be added to our list of Compassionate Allowances,” Commissioner Astrue said. “There can be no higher priority than getting disability benefits quickly to those Americans with these severe and life-threatening conditions.”

Social Security will begin electronically targeting these 38 new conditions March 1.

For more information about the agency’s Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances.

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