Archive for the ‘Blog’ Category

A Life of Delight, Surprise, and Inspiration

April 9th, 2015 by Global Down Syndrome Foundation

Louis “Louie” Rotella IV’s unfiltered and unfettered approach to life is a constant source of inspiration to his family

This article is an excerpt from Down Syndrome World magazine, a publication of the Global Down Syndrome Foundation. To receive Down Syndrome World, become a member of the Global Down Syndrome Foundation today at

Rotella FamilyFourteen-year-old Louie IV was born into baking royalty — his family has owned and operated Rotella’s Italian Bakery Inc. in Omaha, Nebraska, since 1921. When Louie was born with Down syndrome, his great-grandfather and the family’s patriarch, Louis Rotella Sr., provided the reassurance the boy’s parents needed.

“Right after the doctors told us Louie had DS, Louis Sr. tapped me on the cheek like full-blooded Italians do, looked me in the eyes, and said, ‘Keep your head up. Things are going to be fine,’ ” Louie’s dad, Louis III, said. “That was a huge relief. He let me know we had the whole family’s support from the very beginning.”

‘Life doesn’t need to be so complicated’

Louie’s support network now includes his siblings, 12-year-old Mia and 7-year-old Niko.

“Mia is a most intelligent girl who greatly benefits from Louie’s presence and helps my husband and me manage his Type I diabetes,” said Louie’s mom, Jill. “Niko enjoys being around Louie but has to be patient at times when he tries to play with his brother.”

Life in the Rotella home resembles that of most families in many respects.

“We do lots of typical things as a family, including going to church, family functions, sporting events, and out to eat,” Jill said. “Louie — and all of us — are lucky to have such a strong support system in each other.”

Jill marvels at her oldest son’s uninhibited, unbiased outlook.

“Louie teaches us that life doesn’t need to be so complicated; it can be simple and pure,” she said. “He is one of the only students in his middle school class who blows kisses to his mother at school in the morning.”

Louie loves swimming, music, and dancing and at tends a full-inclusion school. His first method of communication was American Sign Language, and he remains so fond of it that he hopes to help teach it in a daycare one day. In the meantime, he’ll keep delighting, surprising, and inspiring a family that can’t imagine life without him.

A Love Story

Little King and His Marshmallow KingdomLouis Rotella III and Louis “Louie” IV share more than a name and the love of father and son — they’re also forever linked by a creative advocacy project.

In 2010, Louis III published The Little King and His Marshmallow Kingdom, a children’s book he wrote based on his son’s life that teaches young readers about the beauty of differences in others and the value of acceptance.

“Writing the book was a way to honor Louie IV and say, ‘I love you,’” Louis III said. “The book conveys that it’s perfectly fine to be unique and that uniqueness should be celebrated. Louie and I got to do a lot together because of the project, like give presentations and sign autographs. Our bond grew stronger, as did our message to others.”

The Little King and His Marshmallow Kingdom (Ata-Boy Productions Inc., 2010) is available at Amazon

Empire State Building

The Empire State Building image is a registered trademark of ESRT Empire State Building, L.L.C. and is used with permission

WHAT: The Empire State Building in New York City and the historic Daniels & Fisher Tower in downtown Denver will light up blue and yellow in honor of World Down Syndrome Day.

WHEN: Night of Saturday, March 21, 2015 (World Down Syndrome Day)

WHERE: Empire State Building, 350 Fifth Ave., New York, NY 10118
Daniels & Fisher Tower, 1601 Arapahoe St., Denver, CO 80202

WHY: World Down Syndrome Day started on March 21, 2006, in Singapore. The date, 3/21, represents the 3 copies of chromosome 21 that people with Down syndrome have. World Down Syndrome Day has developed into a movement that both celebrates and values people with Down syndrome around the world, which is evidenced by the United Nations recognizing World Down Syndrome Day in 2011. Blue and yellow are the colors of Down syndrome awareness.

Global would like to thank Holly Kylberg and the property management at the Daniels & Fisher Tower for making the tower lighting possible.

Learn more about to support Global Down Syndrome Foundation on World Down Syndrome Day.

Armenian Story Shows We Must Stay Vigilant

March 3rd, 2015 by Global Down Syndrome Foundation

in the pursuit of human rights for people with Down syndrome. Even where there are anti-discrimination laws, they aren’t always followed.

Baby LeoIn the recent case of “Baby Leo,” the birth of one child with Down syndrome in Armenia has sparked a worldwide discussion about the rights of the differently-abled, government policies regarding communication with new parents, and the need for improved education and awareness.

Leo was born Jan. 21, 2015, to an Armenian mother and a father from New Zealand. Leo’s father claimed that the baby was abandoned by his mother and he was given an ultimatum of divorce if he wanted to keep the child. She filed for divorce a week later after the father decided to keep Leo. Leo’s mother has disputed that account, and recent news reports state that the couple may be reconciling and planning to move together to New Zealand.

Regardless of the circumstances, Global knows that new parents of a child with Down syndrome can be overwhelmed by the experience and must receive fair, accurate and complete information about what it means to have a child with Down syndrome in the 21st century, when life expectancy has dramatically increased and medical advances are improving the quality of life. Such information is available through the Down Syndrome Prenatal Testing Pamphlet, a joint project of Global and the National Down Syndrome Congress that is available for free as a digital download or as a printed pamphlet upon request.

Unfortunately, it seems that complete and accurate information wasn’t readily available in the case of Baby Leo in Armenia, where societal norms often favor orphanages over a familial setting for those with Down syndrome because of a lack of government assistance to families of the differently-abled.

Leo’s father, Samuel Forrest, created the “Bring Leo Home” fundraising page on website GoFundMe to try to get donations of $60,000 to return with Leo to his native New Zealand, where he believes social services and more widespread acceptance of the differently-abled would provide for a better life. After Leo’s story went viral, Forrest ended up raising over $500,000 from nearly 18,000 donations on the site.

Baby Leo's GoFundMe pageForrest’s “Bring Leo Home” page describes Armenia as a country renowned for its hospitality, but where “scores of babies are abandoned each year, for reasons ranging from physical or intellectual disabilities and minor ‘imperfections.’ ”

In a Facebook post, Leo’s mother, Ruzan Badalyan, said she was concerned about raising a child with Down syndrome in Armenia: “The first thing that came to my mind after the diagnosis was that I don’t want my child to live in a country where certain stereotypes dominate the lives of people with DS.”

In reality, Armenia has laws in place to prevent discrimination against people who are differently-abled, but those laws aren’t always enforced or haven’t had the desired effect on changing societal attitudes. Armenia has signed and ratified all the basic human rights protocols of the United Nations, including the Convention on the Rights of Persons with Disabilities, and has enacted its own national policy with specific protocols for the elimination of discrimination and protection of children who are differently-abled. But just because such laws are in place doesn’t ensure their enforcement or the availability of enough resources to make sure the differently-abled are afforded the same opportunities as their typical peers.

In 2005, Armenia developed an Inclusive Education program aimed at improving specialized schools and bringing more children who are differently-abled into “mainstream” schools. However, statistics show that out of 6,800 school-age children who are identified differently-abled, only about 4,500 attend schools.

Children with Down syndrome deserve the same basic human rights as any other child regardless of what culture they are born into, especially the right to live a life free of discrimination and bigotry. It’s not just parents in countries like Armenia where help is needed in the pursuit of these rights. Even in the United States, where awareness of Down syndrome and acceptance of the differently-abled are considered important ideals, Down syndrome remains one of the least-funded genetic conditions by the National Institutes of Health, despite being the most frequently occurring chromosomal condition.

The more than $500,000 raised for Baby Leo shows that people understand that families need more resources to raise a child with Down syndrome. Forrest has said that “We will use some of the money you’ve given to fund facilities and programs here in Armenia that will support future parents to keep their kids despite all disabilities, and to help better care for the special ones who end up away from their Mum and Dad.”

Increased awareness can lead to action, and those actions can lead to further research and education that will improve the lives of all people with Down syndrome. Accordingly, Global is committed to basic research at the Linda Crnic Institute for Down Syndrome, and clinical research at the Anna and John J. Sie Center for Down Syndrome, and to providing research and educational grants both domestically and internationally.

Support Global’s research, medical care, education and advocacy efforts by donating today, and help make the future brighter for all people with Down syndrome, whether born in Armenia, the U.S. or anywhere around the world.

ENT Conference Has First Down Syndrome Panel

March 3rd, 2015 by Global Down Syndrome Foundation

The Sie Center’s Dr. Francis Hickey and Global’s Michelle Sie Whitten present at the national otolaryngology conference in Vail.

Dr. Francis Hickey

Dr. Francis Hickey, Sie Center Medical Director

Since the late 1960s, the University of Colorado School of Medicine’s Department of Otolaryngology has hosted the “Ultimate Colorado Midwinter Meeting,” a national Otolaryngology (Ears, Nose, Throat, or “ENT”) conference in Vail. This year, the conference organized its first Down syndrome-specific panel of experts. The panel had over 70 attendees, including ear, nose and throat physicians, audiologists, physician assistants and nurse practitioners.

The panel of Down syndrome experts included:

  • Dr. Kathleen Sie, Professor at the University of Washington School of Medicine, Director of the Childhood Communication Center at Seattle Children’s Hospital, Co-Director of the Cochlear Implants Program
  • Dr. Francis Hickey, Medical Director of the Sie Center for Down Syndrome at Children’s Hospital Colorado
  • Emily Nightengale, Audiologist at Children’s Hospital Colorado
  • Dr. Norm Friedman, Associate Professor and Director of Children’s Sleep Medicine Laboratory at Children’s Hospital Colorado
  • Dr. Craig Buchman, Director of the Ear and Hearing Center and the Skull Base Center, Administrative Director of the W. Paul Biggers Carolina Children’s Communicative Disorders Program, Professor and Vice Chairman for Clinical Affairs, Chief of the Division of Otology/Neurotology and Skull Base Surgery at the University of North Carolina

Michelle Sie Whitten, President and CEO of the Global Down Syndrome Foundation, opened the panel by providing a parent and advocacy group perspective. Whitten commented after the panel, “It is wonderful to have so much interest from the medical community in terms of how best to treat patients with Down syndrome – what a great dialogue we had!”

Medical professionals attending the panel were interested in understanding what it means when 50 percent to 90 percent of children with Down syndrome have hearing loss, sleep apnea, and/or other ENT-related issues.

Part of the mission of the multi-disciplinary team at the Sie Center for Down Syndrome at Children’s Hospital Colorado is to engage in clinical research and provide best practices to medical professionals providing care to patients with Down syndrome through speaking opportunities and through publications. For more information on the Sie Center or to make an appointment, call 720-777-6750.

Karl Pfenninger Leaves Legacy of Science

March 3rd, 2015 by Global Down Syndrome Foundation

The renowned researcher passed away recently. The Crnic Institute and Global pay tribute to his instrumental work in cognition.

Dr. Karl PfenningerRecently, we lost Dr. Karl H. Pfenninger to his battle with brain cancer. Dr. Pfenninger was one of four principal investigators at the Linda Crnic Institute for Down Syndrome and a professor of pediatrics at the University of Colorado School of Medicine. He was also director of the Colorado Intellectual and Developmental Disabilities Research Center (IDDRC), a position formerly held by Linda Crnic, the namesake of the Crnic Institute.

Throughout his scientific career, Dr. Pfenninger has contributed greatly to the field of neuroscience, particularly the study of how nerves develop and make connections. In recent years Dr. Pfenninger’s work was focused on intellectual disability and how development of nerves is involved. Dr. Pfenninger’s research with Amyloid Precursor Protein (APP), a protein encoded on chromosome 21, aimed to determine how this protein, already known to be the one that triggers Alzheimer’s disease, was functioning during nerve development. His research focused primarily on studying excess expression of this protein in Down syndrome. People with Down syndrome have three copies of chromosome 21 instead of the typical two. These studies implicated the APP protein in proper functioning of developing nerves.

His laboratory has also developed a mouse that expresses excess APP to determine if this affects brain development, with the hope of better understanding whether APP over-expression in people with Down syndrome causes problems with neurodevelopment and cognition. Dr. Pfenninger was also cataloging all the proteins found in the tips of developing nerves to try to better understand the complexity of nerve growth and function.

Dr. Pfenninger was an inaugural recipient of the Crnic Grand Challenge Grant for his APP research. His lab’s results suggest that early intervention with therapies to reduce APP levels could help to ameliorate cognitive deficits in Down syndrome. Some of his most recent published research appeared in “Nature Cell Biology” in May 2014, “The SNARE Sec22b has a non-fusogenic function in plasma membrane expansion,” and in The Journal of the Federation of American Societies for Experimental Biology in January 2014, “Dosage of amyloid precursor protein affects axonal contact guidance in Down syndrome.”

Besides being a dedicated scientist, mentor, colleague, and friend, Dr. Pfenninger will be remembered for his love of travel, photography, opera, and espresso, and will be sorely missed by members of the Linda Crnic Institute for Down Syndrome, the Global Down Syndrome Foundation, and the rest of the research community.

Global Honors Anna Sie as Community Leader

March 3rd, 2015 by Global Down Syndrome Foundation

on World Down Syndrome Day at Children’s Hospital Colorado. Mrs. Sie is a loving grandma and longtime supporter of the differently-abled.

Anna Sie and Sophia

Anna Sie and granddaughter Sophia

The Global Down Syndrome Foundation is proud to announce longtime supporter Anna Sie will receive the Global Community Leadership Award at the World Down Syndrome Day celebration at Children’s Hospital Colorado on Friday, March 20, 2015. The celebration is co-hosted by Global and the Sie Center for Down Syndrome – one of the largest pediatric medical care centers dedicated to children with Down syndrome.

Mrs. Sie, along with her husband, John J. Sie, is the founding donor of the Global Down Syndrome Foundation, the Linda Crnic Institute for Down Syndrome, and the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado.

She is also co-trustee of the Anna and John J. Sie Foundation, one of the largest funders of nonprofits dedicated to people who are differently-abled. Mrs. Sie’s philanthropy and advocacy focuses on issues relating to children’s welfare, health care, education and media. Her commitment to improving the lives of people with Down syndrome and the differently-abled is inspired by her granddaughter Sophia, who happens to have Down syndrome.

Anna and John J. Sie

Anna and John J. Sie

“I want to make sure our granddaughter will benefit from anything we do,” Mrs. Sie said. “But that can’t happen if we don’t get to the bottom of these health issues for all people with Down syndrome. Helping my granddaughter, and the millions of others like her, is my mission and my passion in life.”

Mrs. Sie, a native of Italy, immigrated with her father and several brothers to the United States in 1955 and grew up in New Jersey. Her mother and two younger brothers came to America three years later. Her passion for the welfare of children was forged through her own experience in coming to America.

Anna and her husband John moved to Colorado in 1984 and have contributed to many aspects of Colorado’s growth. Together they have raised five children and are the proud grandparents to Sophia, Patrick, Benjamin and Shaela.

Jane Lynch Hosts Global and Self-Advocates

March 3rd, 2015 by Global Down Syndrome Foundation

“Glee” star Jane Lynch recently brought her “See Jane Sing!” tour to Denver and graciously organized tickets for 30 Global Down Syndrome Foundation supporters. After her funny and engaging performance, the Emmy and Golden Globe Award winner met Global’s excited and grateful self-advocates and their families.

About the tour: “Fresh from her iconic portrayal of Sue Sylvester on ‘Glee’ and her Broadway debut as Miss Hannigan in ‘Annie,’ Jane will bring her comic skills and musical prowess to the theatre stage. Audiences should prepare for a side-splitting evening of musical comedy, with more than a dash of wit as Jane explores her love of the beauty and absurdity of the American standard and show tune. It’s Broadway with a twist.”

Learn more about her support and advocacy in the Spring 2015 issue of “Down Syndrome World” magazine, which will profile Lynch and “Glee” co-star Lauren Potter as they wrap up the final season of the hit show. Make sure you don’t miss out on the magazine by becoming a member of Global today.

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The Global Down Syndrome Foundation is proud to support the 2015 Down Syndrome Affiliates in Action Conference on March 5-8 in Las Vegas. We look forward to seeing you at one of our five breakout sessions covering our new Global membership and grants program, social networking for adults, services for teens and adults, research benefiting people with Down syndrome, and the new Prenatal Testing Pamphlet.

Jamie Foxx, on Life with His Little Sister, DeOndra

February 10th, 2015 by Global Down Syndrome Foundation

In addition to being an all-star of her own accord, DeOndra Dixon is the youngest sister of Academy Award-winning actor and Grammy Award-winning singer Jamie Foxx.

Down Syndrome World
This article is an excerpt from Down Syndrome World magazine, a publication of the Global Down Syndrome Foundation. To receive Down Syndrome World, become a member of the Global Down Syndrome Foundation today at

Oscar and Grammy winner Jamie Foxx is a triple threat as an actor, musician and comedian, and he’s also a great big brother to self-advocate DeOndra Dixon. Foxx, who is a Global Down Syndrome Foundation Quincy Jones Exceptional Advocacy Award recipient, recently spoke with us about DeOndra and how she’s earned her own place in the spotlight.

Q: Describe DeOndra for us.

A: She speaks her mind and knows that there’s nothing she can’t do. She has such a special quality, and she can light up a room. I don’t know where she gets it. It’s amazing.

Q: DeOndra’s a wonderful self-advocate. She speaks and learns well. What has contributed to her success?

A: It’s the way our family treats her. With DeOndra, we let her jump in the water and swim a little bit, so to speak. Our family just treats her like DeOndra. She goes everywhere we go. She’s usually the life of the party! I attribute a lot of that to my mother. She was the one who was making sure DeOndra went to school and got to be involved in all the activities. She always said, “Get out there and do your thing! Go to school, play, have fun — there’s nothing different about you!”

Q: What’s so special about DeOndra being a Global Down Syndrome Foundation Ambassador?

A: The Global Down Syndrome Foundation has changed my sister’s life. She’s so proud of what she does for the organization. She feels whole, and that’s the most important thing.

Q: What do you hope for DeOndra’s future?

A: That she can live her life with no boundaries, like she’s living it now. There’s nothing she can’t do.

Read the complete interview with Jamie and a profile of DeOndra in the inaugural issue of Down Syndrome World! Sign up as a member of the Global Down Syndrome Foundation and receive the first national quarterly magazine for the Down syndrome community.

Watch Jamie’s acceptance speech for the Quincy Jones Exceptional Advocacy Award:

Watch Jamie brag about DeOndra on the Queen Latifah Show:

Crnic Institute begins undergraduate scholarships

February 10th, 2015 by Global Down Syndrome Foundation

for students interested in Down syndrome research. They complement the graduate and postdoctoal fellowships organized by Crnic and funded by Global.

Darian Williams, Crnic Institute for Down Syndrome undergraduate scholarship recipient

Darian Williams, Crnic Institute for Down Syndrome undergraduate scholarship recipient

A new Undergraduate Scholarship Program being offered through the Linda Crnic Institute for Down Syndrome and the University of Colorado has the potential to expand existing Down syndrome research and get a new generation of undergraduates interested in studying Down syndrome.

Darian Williams, a 20-year-old molecular, cellular, and developmental biology major at CU, is the first recipient of the Crnic Institute’s undergraduate research scholarship. Darian works in the laboratory of Bradley Olwin, Ph.D., a recipient of a 2014 Crnic Institute Grand Challenge Grant for his work on mechanisms of muscle dysfunction in Down syndrome. In addition to that work, Dr. Olwin researches muscular dystrophy and other muscle-related disorders.

“Our lab focuses on muscle stem cells, which are responsible for muscle repair and are often altered in conditions such as Down syndrome,” Williams said. “In our previous muscular dystrophy research, we used Ts65 mice, which exhibit many of the same characteristics as individuals with Down syndrome. Our preliminary experiments showed that these mice had defects in muscle stem cells, and we wanted to use that to better understand the function of these cells in individuals with Down syndrome.”

Expanding the Crnic Institute’s Reach

This is the first year the Undergraduate Scholarship Program has been offered through the Crnic Institute, and the pool of applicants included CU undergraduates interested in Down syndrome research.

“A combination of things made this possible, and one is certainly the funding we receive from the Global Down Syndrome Foundation,” said Tom Blumenthal, Ph.D., Executive Director of the Crnic Institute. “The other is the scientific problem itself. The available tools that can help us understand how the third copy of chromosome 21 causes all that it does are dramatically increasing. We’ve now reached a point where a concerted effort can enable us to understand the condition, and hopefully to intervene.”

Making Scientific Progress

The reality is that conducting biomedical research is increasingly expensive and requires a great deal of financial resources, Dr. Blumenthal noted. Through Global’s support, the Crnic Institute has gone from partnering with just two labs at the University of Colorado to partnering with 24.

The undergraduate scholarships come in addition to the existing Crnic Institute Grand Challenge Grants, which have provided $2.5 million to 27 research projects. Also, the Crnic Institute-affiliated Sie Post-Doctoral Fellowship Program at the BioFrontiers Institute funds three post-doctoral researchers. Recipients of these grants focus their work on medical and cognitive issues in individuals with Down syndrome, such as optic development and genetic analysis of autoimmunity.

“Our purpose is to make scientific progress,” Dr. Blumenthal said. “We hope that increasing the number of openings in our labs for interested undergraduate researchers helps us accomplish that.”

Dr. Blumenthal is excited about the future of Down syndrome research.

“We’re suddenly able to track this extra chromosome, where we weren’t before,” Dr. Blumenthal said. “It’s a matter of putting good money behind good science.”

Learn more about the research being funded by Global by checking out our Research & Medical Care section.