Archive for October, 2017

WASHINGTON – The Global Down Syndrome Foundation thanked Chairman Tom Cole (R-OK) and Ranking Member Rosa DeLauro (D-CT) for scheduling a hearing on Down syndrome research with the U.S. House of Representatives Appropriations Subcommittee on Labor, Health and Human Services, and Education. The hearing will take place on Wednesday, October 25, 2017. Titled “Down Syndrome: Update on the State of the Science & Potential for Discoveries Across Other Major Diseases,” the hearing will be the first Congressional hearing to explore how Down syndrome research can lead to new treatments for life-altering medical conditions including Alzheimer’s disease, autoimmune disorders, and cancer. The hearing will include testimony from Rep. Cathy McMorris Rodgers (R-WA), Rep. Cheri Bustos (D-IL), and Rep. Pete Sessions (R-TX), all champions for Down syndrome research funding in Congress.

“Funding for Down syndrome research at the National Institutes of Health unquestionably affects the health of people with Down syndrome,” said Global Down Syndrome Foundation President & CEO Michelle Sie Whitten. “This important hearing will explore how current and future Down syndrome research can help people with Down syndrome and lead to life-changing treatments for devastating diseases like Alzheimer’s and cancer. We are grateful to Chairman Tom Cole and Ranking Member Rosa DeLauro for scheduling this important hearing so Congress can learn more about the broad impact of Down syndrome research for millions of people who live with this particular condition, and for countless others who can benefit from the groundbreaking medical treatments that will develop as a result.”

“The advocacy efforts of Rep. Cathy McMorris Rodgers, Rep. Cheri Bustos, and Rep. Pete Sessions have been instrumental in advancing Down syndrome research,” Whitten continued. “Their testimony will underscore the need to increase funding so we can continue these important efforts for people with Down syndrome and their families.

The Subcommittee will also hear testimony from internationally recognized researchers and leaders from the Down syndrome community including:

Michelle Sie Whitten, Founder, CEO, and President of the Global Down Syndrome Foundation

Dr. Joaquín M. Espinosa, Executive Director of the Linda Crnic Institute for Down Syndrome and Director of The Functional Genomics Facility, University of Colorado School of Medicine, and Co-Leader of the Molecular Oncology Program at the University of Colorado Cancer Center

Dr. William Mobley, Executive Director of the Down Syndrome Center for Research and Treatment, and Florence Riford Chair of Alzheimer’s Disease Research, University of California – San Diego

Frank Stephens
Actor, Author and Advocate, Board of Directors of Special Olympics Virginia

Additional information can be found on the House Committee on Appropriation web site.

Read more about the Global Down Syndrome Foundation here: https://www.globaldownsyndrome.org/

Media Contact
Name: Ed Mullen
Email: emullen@georgetowngroup.com
Phone: (202) 329-4855

Anca Call
Email: Acall@globaldownsyndrome.org
Phone: (720) 320-3832

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SOURCE Global Down Syndrome Foundation

Related Links

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A Lifetime Of Good Health Begins With Evidence-Based Guidelines

In the U.S., the life expectancy of an individual with Down syndrome has more than doubled in the last three decades, from 25 years in 1983 to 60 years today.

The reason for this increased lifespan is two-fold. First, the inhumane institutions where the overwhelming majority of people with Down syndrome were forced to live were dismantled in the 1980s and 1990s. This dismantling was a product of the human and civil rights movements of the 1960s and 1970s, which resulted in children with Down syndrome being raised in their homes and receiving education and medical care — basic rights they were deprived of in institutions.

Second, in the 1980s, there were considerable advancements in pediatric heart surgeries, as well as a legal battle that rightly ended with doctors being required to perform lifesaving procedures, including open-heart surgery, for children with Down syndrome.

Although people with Down syndrome are enjoying a significantly increased lifespan, their longevity is revealing some challenging age-related medical diagnoses. For example, it is estimated that approximately 70 percent of people with Down syndrome will develop Alzheimer’s disease. As they age, they are also at increased risk of many immune system disorders and obesity. Conversely, they are highly protected from several diseases, including most solid tumor cancers, such as breast cancer, as well as certain types of heart attacks and strokes. It is clear that people with Down syndrome have a different disease spectrum than typical people.

The American Academy of Pediatrics does an excellent job of periodically updating guidelines pediatricians should follow for their patients with Down syndrome. However, the last medical care guidelines for adults with Down syndrome were published in 2001. They provide many excellent insights and recommendations, but are in need of updates based on the increased lifespan of people with Down syndrome and advances in medical science.

In 2015, the Global Down Syndrome Foundation’s Task Force for Adults with Down Syndrome, a team of more than 60 self-advocates, their family members, and medical professionals, unanimously voted for Global to make updating medical care guidelines for adults with Down syndrome a priority.

“The primary purpose is to improve the physical and behavioral health of, and medical care for, people with Down syndrome. That’s absolutely why we’re doing this,” said Dennis McGuire, Ph.D., LCSW,
Senior Consultant at Global. He helped create the first adult medical care guidelines and is tasked with helping galvanize some of the leading medical professionals in adult care to establish new, comprehensive guidelines. “When we’re talking about health care and behavioral health, we’re talking about improving people’s quality of life. That’s our goal.”

EMPOWERING DOCTORS TO PROVIDE BETTER CARE
The new Medical Care Guidelines for Adults with Down Syndrome will provide medical professionals with updated information about adults with Down syndrome and a checklist of recommended screenings and tests that cater to the unique medical profile of this special population.

 

This article was published in the award-winning Down Syndrome World™ magazine. Become a member to read all the articles and get future issues delivered to your door!

Ideally, the guidelines will allow adults with Down syndrome to receive the best possible car e, regardless of where they live.

“There are only a few clinics in the entire country serving teens and adults with Down syndrome,” Dr. McGuire said. “So there are huge numbers of them without access to specialty care. They go to local doctors, who may see just a few people with Down syndrome over the course of a year. The guidelines can provide those physicians with a resource they can tr ust, which will help them deliver better care.”

ADDRESSING KEY AREAS OF MEDICINE
Initially, the new guidelines will cover medical car e across multiple disciplines, including cardiology, immunology, behavioral and mental health, and obesity/metabolism.

“We want to eventually cover many more areas,” said Michelle Sie Whitten, President and CEO of Global. “Unfortunately, Down syndrome is still one of the least-funded genetic conditions by our federal government. As a result, we won’t have enough evidence-based research to provide definitive guidelines in some areas but will rather be able to make recommendations. However, in identifying the research gaps, we can also prioritize such research so when we go back to update the guidelines in five years, we have targeted, more comprehensive research to rely on.”

“New health guidelines could prove beneficial for many reasons,” said Dr. McGuire, who worked for 25 years as a behavioral health expert at the Adult Down Syndrome Center at Advocate Lutheran General Hospital in Chicago. “For example, we’ve found that people with Down syndrome have a tendency toward depression. We also know there’s an overlap between physical and behavioral health. If people have thyroid problems, those can present as behavioral change. When people come in with changes in behavior, behavioral health professionals will recommend a thorough physical exam to make sure there are no physiological issues. If we’re treating depression without treating its physical causes, we’re not really helping [someone with Down syndrome].”

VETTING THE DATA
The first step in the creation of the new guidelines is a rigorous research process by the ECRI Institute, a nonprofit organization that conducts research to create evidence-based medical guidelines. ECRI works closely with the U.S. Department of Health and Human Services’ National Guideline Clearinghouse, which validates the guidelines.

“After that, we’ll gather information from the researchers and clinicians, put it into the form of actual guidelines, and make certain they are published in medical journals,” Dr. McGuire said. “ECRI’s role is to make sure that the quality of this process is extremely high.”

The project has attracted leading medical professionals from throughout the U.S. who provide clinical care to thousands of adult patients with Down syndrome every year. These clinicians will use the ECRI-vetted data as a basis to apply their vast knowledge in different areas and help craft guidelines and recommendations.

The entire process is expected to take two years, and the anticipated completion date is the end of 2018 with the guidelines being available for publication in early 2019.

A VALUABLE RESOURCE
The goal is to have the guidelines published in major medical journals to r each specialty fields and as many medical professionals as possible. The guidelines will be free to parents, caregivers, healthcare providers, and local Down syndrome organizations.

“Parents have always been, by far, the best advocates for people with Down syndrome,” Dr. McGuire said. “We’ve made certain to have a version available to families so they can use them to advocate for their sons and daughters .”

WORTH THE COST
The two-year-long process of creating the new Medical Care Guidelines for Adults with Down Syndrome is costly. Global Down Syndrome Foundation has committed to funding this important initiative, translating the guidelines into 10 languages, and updating them every five years. Global is reaching out to the Down syndrome community for donations, and so far, 28 Down syndrome organizations and multiple individuals have contributed. Their generosity will be recognized in the published guidelines.

“Research is expensive,” said Dennis McGuire, Ph.D., LCSW, Senior Consultant at Global. “Many groups have already stepped up to help fund the guidelines. They know how important this is and are very excited.”

Your ongoing support is crucial to ensuring the best-quality guidelines. To donate, visit
www.globaldownsyndrome.org/donate/

“Tens of thousands of people with Down syndrome reach adulthood each year, and this increases the importance of and need for evidence-based guidelines in this expanding group. Recommendations applied to a person with Down syndrome as a child may not be relevant in adulthood,” said Kent McKelvey, M.D., who leads the Adult Medical Genetics and Down Syndrome Clinic at the University of Arkansas for Medical Sciences. “The presence of three copies of chromosome 21 has implications for development and aging in every organ system. This seems logical and we have some understanding of the processes on a molecular level. We see patterns of disease predisposition with age but we have not translated this into a comprehensive medical management approach. A systematic process such as this is needed to find the gaps in the evidence and order the current evidence into usable guidelines for primary care doctors.”

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During Down Syndrome Awareness Month celebrities vow to raise awareness for life-changing research in support of the foundation’s annual fundraiser next month in Denver

DENVER – Today the Global Down Syndrome Foundation announced its full celebrity lineup for this year’s 9^th annual Be Beautiful Be Yourself Fashion Show, as well as its Quincy Jones Exceptional Advocacy Award (Q Award) winners. The fashion show is the single largest fundraiser benefiting people with Down syndrome, and will be held on Saturday, Nov. 11, 2017 at the Sheraton Denver Downtown Hotel, 1550 Court Place in Denver.

Models – including Marcus Sikora, 2017 Global Ambassador, Madeline Stuart, Australian Model and 2017 Q Award Winner, and DeOndra Dixon, past Global Ambassador and Q Award Winner – will be joined on the Be Beautiful Be Yourself Fashion Show runway by celebrities including: Eva Longoria, Award-winning Actress, Producer, Director, Entrepreneur and 2017 Q Award winner; Jamie Foxx, Oscar Winning Actor, Grammy Winning Musician, and Comedian; Quincy Jones, 27-time Grammy Award Winning Musician, Music Icon, Entertainment Mogul, Entrepreneur and Humanitarian; Marisa Tomei, Oscar Winning Actress; Joe Manganiello, Star of True Blood and Magic Mike; Denis O’Hare, Tony Award Winning Actor and Star of True Blood; John C. McGinley, Award-winning Actor, and Global Board Member; and Amanda Booth, Actress and Model.

“This is a special year for Global as we have had two major scientific breakthroughs that are a direct result of the donations we have raised at our fashion show in past years,” said Global Down Syndrome Foundation President, CEO and Co-Founder, Michelle Sie Whitten. “We are thrilled and grateful for our celebrity supporters this year, but we are especially proud to have Quincy Jones attend to support Global and present his namesake award. It’s going to be a special evening for everyone who attends and donates their time, talent and treasure as they are the people helping us change the world for good.”

Over the past 8 years, the Be Beautiful Be Yourself Fashion Show has raised more than $14 million for the Global Down Syndrome Foundation to support life-changing and life-saving research, medical care, education and advocacy. Specifically, the foundation has supported world-class multi-disciplinary medical care to more than 1,300 children with Down syndrome from 28 states and seven countries. The funding has also helped to establish the first academic home for revolutionary Down syndrome research, with a focus on Alzheimer’s disease, cancer and autoimmune disorders.

Various levels of tickets, table sponsorships, and model sponsorships are available, including VIP levels at www.bebeautifulbeyourself.org.

WATCH CLIP: Frank Stephens
Quincy Jones Advocate, Global Down Syndrome Foundation  

WATCH CLIP: Michelle Sie Whitten
President & CEO Global Down Syndrome Foundation
Executive Director Anna & John J. Sie Foundation

   WATCH CLIP: Joaquín Espinosa, PhD
Professor of Pharmacology, University of Colorado Denver School of Medicine, Co-Lead, Molecular Oncology Program and University of Colorado Cancer Center, Executive Director, Linda Crnic Institute for Down Syndrome

WATCH CLIP: Cathy McMorris Rodgers (R-WA)
Congresswoman from Washington, House Republican Conference Chair

View Photos From The Event!

Wednesday, October 25, 2017  |   Washington, DC

Down Syndrome: Update on the State of the Science & Potential for Discoveries Across Other Major Diseases

The U.S. House of Representatives Appropriations Subcommittee on Labor, Health and Human Services, and Education, which provides federal funding for the National Institutes of Health, held the first ever hearing on current and future research funding priorities to accelerate scientific discovery that will benefit individuals with Down syndrome and lead to new therapies to treat Alzheimer’s disease, cancer, and other major diseases. 

The subcommittee listened to testimony from senior Members of Congress, internationally recognized researchers, and leaders from the Down Syndrome Community.  This represents an important opportunity to build congressional support for increased federal funding for Down syndrome research.

PANEL ONE:

Rep. Cathy McMorris Rodgers Congresswoman from Washington (R-WA) House Republican Conference Chair

Rep. Cheri Bustos Congresswoman from Illinois (D-IL) Co-Chair of the Democratic Policy and Communications Committee

Rep. Pete Sessions Congressman from Texas (R-TX) Chair of the House Rules Committee

 

PANEL TWO:

Michelle Sie Whitten, MA  President & CEO Global Down Syndrome Foundation Executive Director Anna & John J. Sie Foundation

Dr. William Mobley Executive Director, Down Syndrome Center for Research and Treatment, and Florence Riford Chair of Alzheimer’s Disease Research, UC San Diego

Dr. Joaquín Espinosa, Professor of Pharmacology, University of Colorado Denver School of Medicine, Co-Lead, Molecular Oncology Program and University of Colorado Cancer Center, Executive Director, Linda Crnic Institute for Down Syndrome

Frank Stephens, Quincy Jones Advocate, Global Down Syndrome Foundation