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From Down Syndrome World^TM 2020 Issue 2 of 4

AMID A WORLD-WIDE PANDEMIC, THESE SCIENTISTS HAVE FOUND THEMSELVES IN A UNIQUE POSITION TO HELP, THANKS TO YEARS OF STUDYING THE EXCEPTIONAL BIOLOGY OF PEOPLE WITH DOWN SYNDROME.

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!

CONTRIBUTING IN A MEANINGFUL WAY to the body of science and medical practice surrounding an unprecedented world-wide pandemic is not something most people ever get the opportunity to do. It certainly was not what Executive Director of the Linda Crnic Institute for Down Syndrome, Dr. Joaquín Espinosa, and his team of scientists were thinking about in early March 2020.

During this time, the University of Colorado Anschutz Medical Campus (CU) shut down all research operations, locking scientists out of their buildings and laboratories in response to and to prevent the spread of the novel coronavirus (COVID-19) pandemic. Thankfully, Dr. Espinosa and the Crnic Institute team had their valuable experiments and supplies already gathered and stored away safely. With numerous grants from the National Institutes of Health (NIH), the National Science Foundation, and others, the team had plenty of work that could be performed remotely – analyzing data, writing up results for scientific journals, and preparing new proposals for funding.

Their biggest worry was something they could not work on remotely – the delay of their NIH clinical trial grant to treat autoimmune diseases in people with Down syndrome. In 2016, shortly after launching the Crnic Institute Human Trisome ProjectTM (HTP), the Crnic Institute made one of the most important scientific discoveries – Down syndrome can and should be characterized as an immune system disorder.

In particular, they discovered that an immune system pathway called the “interferon pathway” was “lit up” in people with Down syndrome pretty much 24/7, versus in typical people where it is only turned on when they are fighting a virus or infection and then it turns off.

The constant taxation of the immune system in people with Down syndrome creates low intensity inflammation that over time probably contributes to the co-occurrence of various diseases, including dementia. The Crnic Institute discovery was even more consequential because there are FDA-approved drugs that turn down the interferon pathway in typical people. Crnic Institute scientists were about use one of these FDA-approved drugs, a JAK inhibitor called tofacitinib, in an unprecedented clinical trial for adults with Down syndrome when the pandemic forced lab closures around the world.

AN “AH HA” MOMENT
As serendipity would have it, two days into quarantine, the Crnic team was doing a quick review of the research literature on COVID-19. Their findings revealed something that was both shocking and yet made perfect sense – it appeared that hospitalized COVID-19 patients were displaying many of the same patterns of immune system dysregulation that the Crnic Institute team had spent years studying, analyzing, and annotating in people with Down syndrome.

In COVID-19, the body’s antiviral defense system, which utilizes the interferon pathway, is sent into overdrive, causing the release of high levels of inflammatory signaling molecules known as cytokines. In COVID-19 and other viral infections, this “cytokine storm” is associated with respiratory distress, heart damage, and higher mortality rates. Similarly, people with Down syndrome have higher-than-normal levels of interferon signaling and often display more of a mini cytokine storm, even without a viral infection. Crnic Institute scientists believe this could contribute to many of the hallmarks of and co-occurring medical conditions associated with Down syndrome and are working to understand those connections.

Within a week, Dr. Espinosa and the Crnic Institute were one of a handful of research teams allowed back, with COVID-19 safety measures, into their labs to work on COVID-19 treatments for the general populations and to understand the connection and possible affects and treatments on people with Down syndrome.

Today, Dr. Espinosa is the leader of an international consortium looking at JAK inhibitors to treat COVID-19. The treatment is one of several clinical trials that Dr. Anthony Fauci, Director of the National Institute of Allergy and Infectious Disease at the NIH, has been supporting in the United States. The international consortium includes labs from the United States, China, Italy, France, Spain, Argentina, Mexico, Canada, Germany, and Denmark.

COVID-19 COULD BE MORE SEVERE FOR PEOPLE WITH DOWN SYNDROME
In reviewing the COVID-19 literature, Crnic Institute scientists also realized that people with Down syndrome should probably be considered a “high-risk” group for COVID-19. “High risk” means a person who gets COVID-19 has a higher probability of experiencing more severe illness than a member of the general population without other risk factors. This idea rests on the basis that the strength of the cytokine storm in COVID-19 correlates with disease severity and outcomes, and that people with Down syndrome will be more likely to develop a stronger, more prolonged cytokine storm due to higher levels of baseline interferon signaling. Although the direct studies of COVID-19 in Down syndrome needed to prove or disprove this idea have not yet been performed, ample supporting evidence already exists in the context of other viruses and in our basic understanding of immunology in Down syndrome.

It is also important to consider that people with Down syndrome have increased susceptibility to bacterial pneumonia. Although seemingly unrelated, it has been well documented that pandemics of respiratory viral infections are followed by a surge in cases of bacterial pneumonia, and that a large portion of deaths are actually attributed to secondary bacterial infections. Children with Down syndrome have much higher rates of viral pneumonia and bacterial pneumonia, with the latter being a leading cause of mortality in adults. Taken together, these known phenomena suggest that a person with Down syndrome who contracts COVID-19 would have an increased risk of also acquiring bacterial pneumonia.

PUTTING TOGETHER ALL THE EVIDENCE:
#1 – People with Down syndrome have higher levels of interferon signaling.

#3 – Both during and after infection with SARS-CoV-2, people with Down syndrome will be more likely to also contract bacterial pneumonia.

It is important to note that these are hypotheses and predictions based on existing evidence outside of COVID-19 and should be taken into consideration with caution. The studies needed to fully understand COVID-19 in people with Down syndrome are still just starting to get underway. The good news is, there are people with Down syndrome, with and without underlying conditions, who are surviving COVID-19. We simply need more data and to better understand this virus before we can definitively come to conclusion.

HOW DOWN SYNDROME RESEARCH FROM THE CRNIC INSTITUTE IS BEING UTILIZED TO STUDY AND TREAT COVID-19
Since March, every member of Dr. Espinosa’s team, from the basic scientists to the clinical researchers, and even the administrators, have been utilizing their unique skills and knowledge gained while working in Down syndrome to rapidly advance COVID-19 research at CU.

For example, Crnic Institute scientists immediately started testing potential therapeutics for the COVID-19 cytokine storm in their mouse model of Down syndrome, nicknamed Dp16. They weren’t actually exposing the Dp16 mice to SARS-CoV-2; they didn’t need to. Instead, the scientists could activate the immune system and stimulate a cytokine storm much like what is seen in COVID-19, simply by using a molecule that tricks the immune system into sensing a virus when there isn’t one. Crnic scientists then treat the mice with JAK inhibitors targeting the interferon signaling pathway that is chronically activated in people with Down syndrome and that drives the cytokine storm in COVID-19. The data resulting from these experiments will be extremely valuable because it can be interpreted and utilized in two contexts: COVID-19 and Down syndrome.

FIGHTING COVID-19 TOGETHER
Who would have ever guessed that Down syndrome research and the discovery that interferon signaling is chronically activated in people with Down syndrome would one day so greatly impact the science and research behind a historic, global pandemic? This meaningful contribution to the body of science and medical practice surrounding COVID-19 is something the Down syndrome community should be proud to be part of. Together, this community of researchers, self-advocates, families, and supporters can clearly make positive scientific impacts not only for people with Down syndrome, but also for the entire world.

THE CRNIC INSTITUTE HUMAN TRISOME PROJECTTM IN ACTION AGAINST COVID-19
At the beginning of the quarantine, CU assembled a centralized team tasked with rapidly creating a biobank to collect blood and other biological samples from COVID-19 patients. These samples would then be administered to researchers with approved projects. This model essentially replicates one of the Crnic Institute’s flagship research initiatives, the Crnic Institute Human Trisome ProjectTM (HTP). The HTP is generating multiple layers of “omics” data (think big data from sequencing all of someone’s DNA and RNA and measuring all their proteins, metabolites, immune cells, and much more) on hundreds of people with and without Down syndrome in order to understand the hallmarks of and co-occurring medical conditions associated with Down syndrome. Having heard about the Crnic Institute’s HTP and Biobank, the CU COVID-19 team reached out to Crnic scientists to tap into their expertise. The Crnic team shared detailed protocols and helped advise the CU team during the development of the CU COVID-19 Biobank.

As part of a synergized endeavor with the COVID-19 Biobank, leading researchers at CU also partnered with Dr. Espinosa and the Crnic team to replicate the experimental platform from HTP and apply it to COVID-19. The parallel effort by CU to apply the HTP platform to COVID-19 has been aptly dubbed “The COVIDome Project,” and Crnic scientists are leading the ongoing data generation to advance COVID-19 research for better diagnostics and therapeutics.

The Crnic team is also partnering with a national COVID-19 collaborative group to specifically study COVID-19 in people with Down syndrome. As explained earlier in this article, so much is yet unknown about COVID-19 in Down syndrome and numerous studies are needed to understand its impacts. The team is working with top data scientists at CU to identify differences in risk factors, symptoms, clinical course, immunological parameters, response to various treatments, and outcomes and long-term effects of COVID-19 in people with Down syndrome. Alongside these efforts, the Crnic team is also studying individuals with Down syndrome who have recovered from a SARS-CoV-2 infection as part of the HTP, in order to assess changes induced by COVID-19 across all the layers of omics data. Together, Crnic scientists hope these efforts will advance our understanding of interferon signaling and the cytokine storm in COVID-19 and Down syndrome and
inform the development of customized preventative and therapeutic solutions.

Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
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From Down Syndrome World^TM 2019 Issue 3 of 4

What happens when a supermodel has a baby with Down Syndrome? Well, she gets him a modeling contract too (obviously)!.

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!

AMANDA BOOTH TRAVELS the world for her career, modeling in fashion editorials and advertising campaigns for companies and publications such as Italian Vogue, Lancôme, Elle, Target, and more. She also has appeared in network television shows such as “Community,” “Hot in Cleveland,” and “Maron.” Yet, Amanda credits her greatest journey to one that takes place right in her own home: parenting her son, Micah, who happens to have Down syndrome. In 2014, Amanda and her husband, Mike, became first-time parents, with all the same questions and fears new parents typically have, plus one that took them by surprise: What is Down syndrome?

The couple embraced Micah from the beginning, and by the time he was 2 years old, his mom had already secured him a modeling contract as well — an act of a mother ’s love but also an act of advocacy for people with Down syndrome in the modeling industry. “We wanted to show the world how beautiful Down syndrome is,” says Amanda.

“We wanted to show the world how beautiful Down syndr ome is,” says Amanda.

Amanda started to share her inspiring journey of motherhood on her social media accounts @lifewithmicah and @amanda_booth. Micah’s story then spread to magazines and online publications, ranging from feature stories and interviews with journalists to guest blogs and articles written by Amanda herself. The mother and son pair have been featured in Harper’s Bazaar US and Australia, Glamour Magazine UK, Mother’s Magazine, Down Syndrome World, The Mighty, and more. Most recently, in September, they were on the cover of Vogue Living Netherlands, making Micah the first person with Down syndrome to be featured on a Vogue magazine cover.

Amanda has used her modeling for fashion retailer Anthropologie to promote Global as well. As the face of the mega brand’s Mother’s Day campaign, Amanda helped raise thousands of dollars for Global’s research and medical care. This year, Amanda will be awarded Global’s prestigious Quincy Jones Exceptional Advocacy Award at the Be Beautiful Be Yourself Fashion Show, the largest fundraiser for Down syndrome in the world.

A PERSONAL JOURNEY OF LIFE, LOVE & ACTIVISM

Amanda and Mike did not learn that Micah had Down syndrome until he was 4 months old.

“I had never met someone with Down syndr ome before. We had a lot of fears, questions, and concerns about what that meant.”

About three years later, Micah received the dual diagnosis of Down syndrome and autism. “Because we got to know Micah as Micah first, his official diagnosis didn’t feel heavy. Ultimately, it was just words on a piece of paper. He was still our funny, lively boy who we love and care for.”

Mike, who is extremely supportive of Amanda’s advocacy, agrees.”

“We believe that Micah will ha ve a wonderful, full life. But we do need to make sure he has access to ex cellent health care.”

Micah was born with hypothyroidism and a very weak immune system. As a result, his interactions with the outside world were limited, and his growth and development were stunted.

“It wasn’t until Micah’s pediatrician looked beyond the fact that it was typical for kids with Down syndrome to have a weak immune
system and instead addressed Micah’s health in a more adequate way that he started to get better,” Amanda remembers.

After receiving the correct diagnosis and taking proper medications, Micah’s health was thriving.

“It’s not enough to accept that certain things happen as a part of a condition like Down syndrome. The key to our children’s future is understanding why and how we can help them receive excellent medical care.”

Amanda says their advocacy work happened very organically.

“We already had been given this large platform through my career and social media,” says Amanda, whose Instagram accounts have more than 150,000 followers combined. “When we learned that Micah would have Down syndrome, it felt like our purpose to share our journey with the world.”

She and Mike started receiving letters from families asking questions and thanking them.

“It wasn’t until then that we started to realize how much we were actually helping families,” Amanda says. “We remember what it felt like getting the diagnosis, so we shared it all, the beautiful moments and the struggles.”

As Micah’s face became more well known in the social media and Down syndrome communities, organizations and publications began reaching out to feature their family. Amanda started writing for and being featured in parent magazines. So while working hard to be good a mother and a successful model and actress, Amanda took on another big job as an activist.

CONNECTING WITH GLOBAL

“Global really opened our eyes to the disparity in research funding for Down syndrome from our National Institutes of Health,” Amanda explains.

When Micah was still a baby, Amanda and Global’s President and CEO connected by phone and talked for over an hour, bonding immediately over their children. Later that year, Amanda, Mike, and Micah attended Global’s annual Be Beautiful Be Yourself Fashion Show, which Amanda defines as a transformational moment in their journey.

“Micah had just turned 1, and it was still a very scary time for us,” Amanda remembers. “But when we walked into the fashion show, we were surrounded by thousands of people with Down syndrome and their families who were so happy. And we met incredible leaders truly making a difference in our community.”

That year, 1,400 attendees, including Hollywood celebrities such as Hillar y Swank, Queen Latifah, John C. McGinley, and more, came to Denver for the event, raising $2 million. To date, the event has raised over $18 million for Down syndrome.

“For the first time as parents, instead of feeling scared for Micah’s future, Mike and I felt excited and hopeful.”

She realized they could help families on a larger scale, by advocating for research and medical care with Global.

The family now attends the event every year, and Amanda has been a powerful spokesperson for Global, including partnering for multiple years with retailers and influencers for Global’s Mother’s Day campaign. In 2018, Amanda was the face of Global’s Mother’s Day campaign with Anthropologie, and in 2019, she rallied the support of her tribe of mommy bloggers to help Global create a special video to pay tribute to the holiday.

In addition to supporting Global’s work, Amanda has been heavily involved with other nonprofits, such as Ruby’s Rainbow and Changing the Face of Beauty.

WHAT’S NEXT?

“I’m just a mom who loves my son and wants the best life for him,” Amanda states. “I want other people to see my son the way I see him. Every person deserves to feel like they belong.”

Amanda will receive Global’s prestigious Quincy Jones Exceptional Advocacy Award along with co-awardee Megan Bomgaars at the 2019 fashion show in November. After learning of Megan’s accomplishments as an entrepreneur, TV star, and public speaker and seeing her high-fashion makeup line photos, Amanda is very excited to meet Megan and talk about their shared mission of inclusion and equality.

“I want to thank the parents before us who fought hard for our kids. People with Down syndrome are slowly being accepted into society, able to attend public school, have careers, and get married. I want to thank Global for ensuring our federal government prioritizes Down syndrome research funding to improve health outcomes,” Amanda says. “But the best way to thank them is not by saying ‘thank you’ — it’s by supporting their truly transformative, effective advocacy work.”

Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
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From Down Syndrome World^TM 2019 Issue 3 of 4

Ensuring 2019 Global Ambassador Charlotte Fonfara-LaRose has a ball at the red carpet premiere of Dumbo

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!

IN MARCH 2019,Charlotte Fonfara-LaRose attended the movie premiere of Tim Burton’s live-action remake of the Disney classic Dumbo as Colin Farrell’s guest. Farrell, who plays circus stalwart Holt Farrier in the film, says, “I was so happy to see Charlotte again at the premiere, and I hope to see her again soon!”

Charlotte assures us the feeling was mutual.

“I felt like a celebrity on the red carpet — he totally remembered who I was and gave me a hug!”

Other cast members in attendance included Michael Keaton, Danny DeVito, Eva Green, and Alan Arkin. As for hanging out with other celebrities on the red carpet like Helen Mirren, Charlotte exclaims, “It was so exciting!”

This amazing opportunity stemmed from Farrell’s generous live auction donation at the Global Down Syndrome Foundation’s 10th Anniversary Be Beautiful Be Yourself Fashion Show in 2018, where Charlotte was a model and Farrell was an awardee. This year, Charlotte has been chosen as the 2019 Global Ambassador where she and her family will be honored at Global’s marquee annual fundraiser.

MEET CHARLOTTE FONFARA-LAROSE

The 16-year-old firecracker was named after her maternal grandmother, Charlotte. Charlotte is a natural activist who loves to help people.

“I help anyone feeling sad feel better by giving them a hug,” she says.

Cathy Fonfara and Scott LaRose had Charlotte in 2003. The young new parents did not learn Charlotte would have Down syndrome until she was born, causing quite a shock. However, both Cathy and Scott come from large dedicated families, who rallied in support of their beautiful new addition to the family.

“Her birth made us want to be better people, and we wanted better for her,” says Cathy. “She is really the reason that we have such a great relationship and that we are a loving family together.”

Scott recalls that his father, who was an engineer and probably knew the least about Down syndrome in the whole group, came to them two days after Charlotte’s diagnosis with a binder of information.

“It was a very touching way to approach things, and I think it certainly helped us dig in a little bit,” Scott tells.

Sixteen years later, the family remains close. The Fonfara and LaRose families have a unique arrangement that works well for them and gives Charlotte lots of quality time with her large extended family.

“Scott and I are no longer a couple, but we are a family and we will always be a family,” says Cathy. “We vacation together, we go out to dinner as a family, and we spend every holiday together as a family.”

Charlotte lives full time with her mom and 8- year-old sister, Noelle, in Annapolis, Maryland. Scott is a ver y attentive father who is involved in every aspect of Charlotte’s life. Charlotte also has special relationships with both her grandmothers: Cathy’s mom, whom she calls “Oma,” and Scott’s mom, whom she calls “ Gigi.”

Charlotte is an inspiration to her family and a role model to her little sister, classmates, and peers. She doesn’t let Down syndrome get in the way of pursuing her dreams, and she lives her life as any typical 16-year-old. She loves horseback riding, swimming, paddleboarding, and traveling. In fact, she’s traveled to over 30 states and 10 countries with her family! She has a boyfriend named Zach, whom she has known since childhood, and they love going on sushi dates. Charlotte has dreams of owning a bagel shop one day, marrying Zach, and living in a blue and red home together.

Charlotte has inspired her mom into action.

“Over the years Charlotte has shown me that all she needs is what all children need: love, support, and encouragement,” says Cathy. “She also has helped me to educate doctors, teachers, and school administrators about the ability and potential of people with Down syndrome.”

GLOBAL’S 2019 AMBASSADOR

This year, Charlotte and her family are thrilled to be named an Ambassador family at the 2019 Be Beautiful Be Yourself Fashion Show. The event is the largest fundraiser for Down syndrome in the world. Over 1,400 self-advocates, families, Hollywood and sports celebrities, community philanthropists, and government leaders attend each year.

Charlotte and her family are no strangers the star-studded evening, though. Cathy and Charlotte were introduced to Global when Zach was in Global’s Washington, D.C. Gala in 2013. Charlotte and Zach danced on the runway together during a performance by Sheryl Crow!

“When we attended our first fashion show, we were astounded by the effort, quality, and attention that Global put into providing such a beautiful and festive event to showcase the beauty of individuals with Down syndrome,” says Cathy.

While she is always impressed by the famous and influential people who come out to support the show every year, Cathy is clear.

“The best part is when the models walk the runway, unintentionally stealing the spotlight from those celebrities escorting them,” she says. “The pride and joy on the models’ faces is indescribable and inspiration is palpable.”

Charlotte and her family have now attended seven Global fashion shows.

COLIN FARRELL’S SPONTANEOUS AND IMPROMPTU GENEROSITY

In 2018, at Global’s 10th Anniversary Be Beautiful Be Yourself Fashion Show, guests went wild for the 25 models with Down syndrome, including Charlotte. They were also brought to their feet by two inspiring recipients of Global’s Quincy Jones Exceptional Advocacy Award — Zack Gottsagen and Colin Farrell.

Farrell is an award-winning Irish actor and activist. He received his first Golden Globe for In Bruges and was nominated for multiple awards for his performance in The Lobster, starring opposite Rachel Weisz. More recently he has star red in the Harry Potter spin-off prequel, Fantastic Beasts and Where to Find Them, The Killing of a Sacred Deer with Nicole Kidman, Roman J. Israel Esq. with Denzel Washington, and the Disney live-action film Dumbo directed by Tim Burton.

Farrell uses his public platform to support organizations he is passionate about. He serves a celebrity partner for the United Nations’ World Food Programme, was an official spokesperson for the Special Olympics World Games in Shanghai, and supports nonprofits focused on the differently-abled community in tribute to his son, James.

As a father to a son with Angelman syndrome, Farrell has supported the Foundation for Angelman Syndrome Therapeutics for over a decade. He credits his son with making his life more meaningful and fulfilling.

“James’ very existence has changed so much about my life and how I preserve my own life selfishly being a caretaker and having the gift of being a protector and a provider for James, and as someone who loves him endlessly, someone who has watched his growth from infant to child to teenager now and approaching his young manhood,” he says. “James’ strength and bravery, his individuality and yet his commonality are things I’m constantly struck by.

“And, of course, as a result of his existence, it has afforded me the great gift of being involved in the lives of other families who care for a child who is differently-abled,” Farrell continues. “I’ve been touched by and allowed to be close to families who share the struggles of just being a par ent first and foremost but also the extra struggles that can arise from being a parent of a child who is differently-abled. James’ enrichment of my life is beyond measure.”

Indeed, James and his work benefiting the differently-abled brought Farrell to Denver last year to receive Global’s highest honor. During the fashion show’s live auction, Farrell jumped up on stage alongside Jamie Foxx, Jeremy Renner, Von Miller, and John C. McGinley and spontaneously offered a trip to Hollywood and tickets to the premiere of Dumbo. Impressed and moved by Farrell’s generosity, Charlotte and her mom decided to bid on the tickets, and they won!

At the fashion show, Farrell took photos with Charlotte and all the models with Down syndrome, and spoke to reporters on the red carpet.

“Seeing all of the members of the community walking down the runway and seeing how much they were empowered, and how the models and every single person in the audience was enraptured, seeing this as an indelible moment and celebration of their lives, and their brilliance as human beings and spirits both individually and as a community, was extraordinarily enriching and also emboldening to observe,” Farrell says.

“What a class act to not only support Global with his presence at the gala but to also offer an ex citing item to raise more money,” says Cathy. “And then be so down to earth and caring to make my sweet Charlotte feel so special.”

FIGHTING DISCRIMINATION AND OVERCOMING CHALLENGES — A REWARDING LIFE

Thousands of guests travel from all over the world to see Global’s iconic fashion show, where models with Down syndrome rock the runway with their celebrity escorts. The evening gives attendees an opportunity to learn, network, and support Global’s work. Through ticket and table purchases, model sponsorships, silent and live auction bids, and general donations, the proceeds from Global’s Be Beautiful Be Yourself Fashion Show benefit their affiliates’ important work in research and medical care.

“The underlying theme of the fashion show is actually human and civil rights, and our event gets to flip an old, negative paradigm on its head,” says Michelle Sie Whitten, President and CEO of Global. “From very active members of the Global community to people who are completely new to Down syndrome, everyone leaves feeling they are a part of something bigger than themselves.”

Charlotte’s family agrees.

“We’ve faced some heartbreaking discrimination in the education system, with teachers creating restrictive learning environments and blatantly excluding kids with special needs,” says Cathy. “One of the many great things that Global does is helping every individual with Down syndrome with education from academia to life skills. They work with parents and their children on their IEPs (individualized education programs), and they are now developing an education center at their new headquarters to focus on vocational training.”

Global aims to show the world that people of all abilities , like Charlotte and James, should have the opportunity to reach their full potential and live happy, rewarding lives.

“Educating our medical professionals and our community is important,” says Farrell. “Imagine you are told your child may never walk and then you see your child take his or her first steps a couple of weeks short of their fourth birthday like James did. The profundity and the emotional magnitude are overwhelming and must be shared with others to educate how y our child’s future is communicated. So there will be great challenges with your child like any child, but the rewards can be unimaginable and even more magnified.”

WORKING HARD TO CREATE HEALTHY LIVES

Global’s Ambassadors and models help raise awareness and advocate for people with Down syndrome to have equal access to transformative research, lifesaving medical care and other opportunities. And who’s at the top of Global ’s contact list for this? The U.S. government. Down syndrome has been one of the least-funded genetic conditions by the National Institutes of Health (NIH) for nearly 20 years, despite being the leading cause of developmental delay in the U.S. and the world.

Angelman syndrome is also a genetic condition. Farrell says that although he was saddened to learn about this disparity in funding, he wasn’t surprised.

“I think maybe the reason for this is a bittersweet one,” Farrell says. “Because people with Down syndrome are often presented as loving and happy, members outside of the community may think there’s no help needed. And it’s our job to teach others that people with Down syndrome need specialized medical care and research and, frankly, help throughout their lives and raise awareness.”

Farrell is optimistic about the progress in research for various genetic conditions “It’s an exciting time in science, and the future is looking brighter for our children than ever before.”

Over a decade of Global lobbying Congress and collaborating with the NIH has resulted in a tripling of the NIH’s Down syndrome research budget, from $27 million in 2016 to $77 million in 2019.

“Through Global, we have come to understand that people with Down syndrome have a different disease profile and that they need specialized medical care throughout their lives,” says Scott. “I was shocked to learn that there are no updated, evidence-based medical care guidelines for adults with Down syndrome. We are hugely grateful to Global and the experts who are working to create those for Charlotte and our community.”

“Global’s amazing work in advocacy, medical care, research, and government legislation will help my daughter and others with Down syndrome be able to live the lives they want and the lives all parents wish for their children,” says Cathy.

“Global’s work is so important because they help find the best treatments for people with Down syndrome who are sick,” Charlotte adds.

The connections between Down syndrome and cancer research are particularly important to the family. In 2016, Charlotte’s friend Mary Miller was diagnosed with leukemia. Charlotte and Mary, both born with Down syndrome, have been friends since appearing as models in Global’s 2014 Be Beautiful Be Yourself Fashion Show. Motivated by Mary’s fight against leukemia and their desire to fund critical Down syndrome research, Cathy and Scott funded a Basic Science Grant to Joaquín Espinosa, Ph.D., and his team at the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz Medical Campus. Additionally, Charlotte’s grandmother Gigi has cancer, and as always, the family is supporting her every step of the way.

“Charlotte has a heart of gold and is already a champion for others who are sick or who she feels are disadvantaged in some way,” says Cathy. “She was just born that way, and we can’t wait to see what challenging projects and work she will take on going forward.”

“As a parent, Charlotte is my number one priority,” says Scott. “I want to make sure she receives everything she needs to reach her potential. By supporting Global, we have the luxury of not only helping Charlotte, but helping all people with Down syndrome and that’s an amazing feeling.”

Charlotte will be featured at Global’s Be Beautiful Be Yourself Fashion Show on Saturday, Nov. 2. Farrell encourages everyone to support her.

“I would recommend anyone who gets a chance to support Global and the Be Beautiful Be Yourself Fashion Show in Denver try and make the trip. Charlotte and everyone with Down syndrome deserve your attention. The event itself is love, community, harmony, unity, and unbridled hope for our future.”

“Whether she is being poked and prodded for medical tests, being underestimated by teachers at school, or having people staring at her as she walks down the street, Charlotte has always been brave, resolute, and true to herself. She is truly a great role model and Ambassador.”

Charlotte is excited to apply her strength and passion to her new role with Global.

“As Global’s Ambassador, I hope to help other people with Down syndrome be healthier through medical research, to bring attention to Global’s mission, and to bring respect to people with Down syndrome.”

Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
Register today at downsyndromeworld.org!

An important study in the journal of mental health research in intellectual disabilities shows that children with Down syndrome demonstrate increased behavioral issues compared with their typical peers. Early intervention and a development strategy can help.

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!

A STUDY CONDUCTED by doctors at the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado, an affiliate of the Global Down S yndrome Foundation, found that 94% of children with Down syndrome experienced one or more behavioral challenges on a w eekly or even daily basis. These behaviors include wandering off, refusal to follow instructions, aggression, impulsivity, and difficulty transitioning from activity to activity. Behavioral challenges can not only impact a child’ s quality of life but also cause major str esses for parents, teachers, and other caregivers.

In the study, Lina Patel, Psy.D., and her three co-authors, Kristine Wolter-Warmerdam, Noel Leifer, and Francis Hickey, M.D., analyzed current tools for measuring behavior in children with Down syndrome to determine which methods were effective and which could be improved upon. They also surveyed parents to learn about which behaviors were the most common and if any challenges shared a common denominator. The doctors published their results in late 2018.

Children with Down syndrome have many positive behavioral traits, and typical children certainly have negative behavioral issues. However, because of lack of research, behavior issues in children with Down syndrome are less understood. Behavioral challenges can hamper a child’s ability to function independently, perform well in school or other social settings, and even handle everyday tasks, such as bathing and dressing, at home. By understanding what can trigger certain behavioral issues, parents and teachers can better develop strategies to intervene before issues progress.

COMMUNICATION TOOLS: A COMMON DENOMINATOR

A variety of factors may fuel undesirable behaviors, according to Dr. Patel, lead author and D irector of Psychology at the Sie Center.

“I feel like motivation is a key factor,” Dr. Patel says. “It doesn’t mean that children with Down syndrome are unmotivated. It might just mean they are motivated by their own interests versus the task at hand, which then may result in behavioral challenges.”

Dr. Patel and her co-authors wanted to know which behaviors parents of children with Down syndrome found most concerning. They asked parents of 274 children seen at the Sie Center from 2010 to 2015 to fill out a specially designed questionnaire. On the questionnaire, parents were asked to state the frequency with which 16 behavior challenges occurred and their level of concern about each. Parents could also name additional behavioral challenges not listed on the form. The study is one of the largest of its kind and the results were not completely anticipated.

Noncompliance, wandering, sitting down and refusing to move, and aggression were the most common difficult behaviors parents reported. The amount and frequency of challenging behaviors was much higher than previously reported in scientific literature, with nearly 100% of parents noting the existence of challenging behaviors at least weekly.

“The most striking result we found was the frequency of behavioral challenges,” Dr. Patel says. “I think we did capture a wider array of behaviors, resulting in a higher percentage of children experiencing those behaviors. The good news is that many of the behavioral challenges that we assessed can be addressed using behavioral strategies that are informed by neurodevelopment.”

Neurodevelopment is the brain’s development of neurological pathways that influence areas including memory, intellectual functioning, attention, and focus.

The researchers also wanted to determine if any of these behavioral challenges shared a common denominator. They found that the inability of a child to effectively communicate his or her wants and needs was associated with many behavioral challenges.

“Behavior is a form of communication people use when they do not have access to other methods of communication, like verbal communication,” Dr. Patel explains. “Therefore, it’s not surprising that individuals with Down syndrome would have more behavioral challenges if they do not have more functional communication strategies.”

TAKE ACTION EARLY

The longer parents allow unwanted behaviors to persist, the more ingrained these behaviors may become.

“Behavioral interventions can make a difference and really change behavior,” says Elise Sannar, M.D., Assistant Professor of Child and Adolescent Psychiatry at Children’s Hospital Colorado. “If [parents] just live with [a behavior], it’s definitely not going to get better. If kids with Down syndrome learn that if they have a tantrum or refuse to move, they’ll get what they want, that will be reinforced, and they’ll continue to engage in that behavior.”

When concerning behaviors arise, parents should notify their child’s pediatrician or primary care physician as soon as possible so medical causes can be ruled out. Many behavior issues can be triggered by medical ailments to which children with Down syndrome are more predisposed. One such medical ailment is obstructive sleep apnea, which is found in up to 70% of children with Down syndrome.

In addition, parents should pay attention to the context of behavioral challenges — when, where, and with whom they occur, and what happens before and after them, says Anna Esbensen, Ph.D., Associate Professor, Research Director at the Jane and Richard Thomas Center for Down Syndrome in the Division of Developmental and Behavioral Pediatrics at Cincinnati Children’s Hospital Medical Center.

These clues can provide important information about why behaviors occur. Parents who are concerned about a behavior that happened when they weren’t around can ask their child’s friends, teacher, or employer for information about what took place.

“Teaching the child a replacement behavior or a different way of achieving or communicating their needs are helpful ways of teaching an adaptive … method of achieving their desired function,” Dr. Esbensen explains.

She continues, “Once we understand the function of the child’s behaviors, there are evidence-based strategies that can be used to modify that behavioral challenge.”

According to Dr. Sannar, one such strategy is applied behavior analysis (ABA), which uses a variety of techniques, such as positive reinforcement, to increase helpful behaviors and decrease damaging ones. ABA can be effective in children with Down syndrome, autism, and other conditions associated with behavioral challenges.

For example, Dr. Patel says, ABA can be used to stop a child with Down syndrome from running or wandering away from caregivers, also called elopement. A behavioral analyst can collect data to better understand why the child is eloping — is he or she bored, trying to avoid a difficult task that is hard, or eager for attention? Once the analyst has an answer, he or she can create a plan to address it. For example, if the child is avoiding work that feels too hard, the analyst can slowly increase a task’s difficulty or teach the child to ask for a break.

Helping people with Down syndrome manage behaviors is important, not only for their success in school and social situations but also as they enter adulthood, says Dr. Patel.

“Many individuals with Down syndrome who have the skill to seek employment may not be able to if they have behaviors that interfere with their job,” she advises. “It may be more difficult to gain independence with things like staying home alone or even living with others if these behaviors are not addressed.”

While it is more difficult to change longingrained behaviors, therapies and strategies exist that help adults, and studies are starting to address this older population.

The researchers plan to develop a more comprehensive tool to capture the full range of behavioral health challenges that children
with Down syndrome experience. They hope such a tool would help pediatricians and other community providers determine when to refer children to a behavioral health specialist. Most importantly, by understanding and analyzing. these behaviors, they hope to empower both individuals with Down syndrome and their parents to take necessary actions to improve and maintain appropriate behaviors.

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Last year, the Global Down Syndrome Foundation’s 10th Anniversary Be Beautiful Be Yourself Fashion Show brought together two very different football fans: Denver Broncos Lineback Von Miller and one of his biggest Admirers, sports-loving 14-year-old Daniel Walshe. The two connected over their love of the game – and fashionable eyewear.

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!

FOR MODELS AND ATTENDEES ALIKE, Global’s annual Be Beautiful Be Yourself Fashion Show is an unforgettable, magical experience. For Global participant Daniel Walshe, the fashion show was a chance to meet one of his longtime heroes, Super Bowl 50 MVP Von Miller. In 2011, Von was drafted by the Broncos as the No. 2 overall draft pick from Texas A&M University. Since then, the seventime Pro Bowl linebacker has posted the most sacks in the NFL. Daniel, a Broncos superfan, owns a Von Miller jersey and even rocks thick black-rimmed glasses because they look like Von’s trademark frames. Von was standing in front of the ballroom entrance when Daniel saw him, and Von greeted him with a big bear hug.

“Von was nice and friendly!” Daniel remembers..

“Both of them looked like they were having such a good time,” says Elaine Walshe, Daniel’s mom. “In fact, Daniel was so excited that a couple weeks later, he convinced us to take him to his first Broncos game to see his new friend in action.”

“I heard great things about Global’s fashion show from some of my current and former teammates that participated, like Peyton Manning and Brandon McManus,” Von says. “I went in not really knowing what to expect but wanted to go and show support for the event. I left being totally impacted by the type of community surrounding Global and the things they do. It was definitely lifechanging for me.”

TACKLING ADVERSITY & CREATING CHANGE

Being the successful athlete and force of nature on the football field that he is, it’s difficult to imagine a guy like Von Miller feeling self-conscious. But when he was a skinny, glasses-wearing fifth grader in Texas, Von didn’t feel destined for a career in professional football. In fact, at first, he had to beg his father to allow him to join a youth football team at the time because his father didn ’t believe he was ready to play. When Von finally began playing, he remembers enduring taunts from other children about his sports glasses.

“I started wearing glasses in second grade,” Von tells. “At first, I’m not going to lie, it was horrible. It wasn’t cool. When I found out I had to wear glasses, I was sad and depressed about it, but over time, I just grew into them, and they became ‘me.’ That’s how I can relate with so many kids who have glasses.”

After establishing himself as a successful professional football player in the NFL, Von was able to turn his childhood insecurities and fears into a way of inspiring children and boosting their confidence.

In 2012, he established Von’s Vision, a philanthropic organization that provides free eye exams and glasses to low-income children in the Denver area. To date, the organization has raised $5.1 million and provided over 8,500 Denver students with free eye care services. Throughout the year, Von’s Vision also funds portable optical exam centers so children in the community can get the eye exams they need.

Von was awarded the 2017 Broncos’ Community Impact Award for his charitable influence. Every spring, the team rallies in support of Von and hosts Von’s Vision Day Celebration at Broncos Stadium at Mile High. Children from identified schools and community organizations are invited to receive free eye screenings and exams. Additionally, participants are given the chance to meet Von.

“There are so many wonderful things we’ve done with the organization,” Von says proudly. “When we created Von’s Vision, I was happy to help one or two kids. To help so many kids and raise so much money for glasses is amazing. I have a wonderful team behind me that has blessed me and allowed me to impact so many lives.”

Up to 50% of people with Down syndrome will need glasses. The most common vision problems include farsightedness, nearsightedness, strabismus (crossed eyes), and astigmatism (blurred vision). Daniel started wearing glasses in kindergarten to address his farsightedness and astigmatism.

Von’s philanthropy work with eyesight and vision issues are very important and relevant to the Down syndrome community, and he understands exactly why.

“For some people with Down syndrome, it’s not that they can’t read, they just can’t see,” Von says. “They have a hard time being able to see words on a paper. That’s my life right there. I’ve always had problems with vision. I know what it feels like to have corrective vision, and I know what type of impact that can have on your life.”

Daniel is a big admirer of Von’s distinctive eyewear.

“When we went shopping for a pair of glasses a couple of years ago, Daniel was thrilled to find a pair of iconic thick black-rimmed glasses that looked like ones he’d seen on Von,” Elaine says.

Thanks to role models like Von, Daniel lets nothing stand in his way. He has faced several health problems, including chronic sinus and thyroid issues and sleep apnea, to which individuals with Down syndrome are predisposed. Daniel has benefited from medical care at the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado, a Global affiliate, and knows how to have an active and healthy lifestyle. Daniel continues to pursue activities he loves, including swimming on a local rec team and playing Ultimate Frisbee and basketball on his middle-school team.

ADVOCATES FOR GLOBAL

The Walshe family became part of the Global family in 2010. Daniel met the Global staff and many new friends through medical visits and various Global events and programs.

“Global has been a tremendous support to Daniel, both socially and medically,” says Elaine. “The amount of Down syndrome resources they provide and access to specialists is incredible.”

“When we had Daniel, we were piecemealing together what medical areas were important and which doctors we should go see, just within different moms’ groups,” Elaine continues.

She adds, “Now you can go to the Sie C enter, and they will assess y our child and say, ‘Go see this specialist and that ther apist, and here’s what you need to do.’ It’s a one-stop shop, and they schedule the appointments for us. It’s been a life-changer.”

With access to great health care, Daniel has been able to participate in a variety of
Global’s Dare to Play programs, improving on his skills in soccer, football, dance, tennis, and more.

“It’s been an opportunity to meet other kids who have Down syndrome who have similar
interests,” Elaine says. “Without those programs, he probably wouldn’t have met all the wonderful friends he has.”

Daniel was also a model in Global’s 2014 Be Beautiful Be Yourself Fashion Show,
and the family continues to at tend the event every year. At the 2018 Be Beautiful Be Yourself Fashion Show, Daniel got to witness one of his heroes, Von, escort Global Ambassador DeOndra Dixon, down the runway. With encouragement from Oscar-winner Jamie Foxx, Von even put his gold suit with a blue floral pattern up for live auction. To the audience’s delight, then-Broncos quarterback Case Keenum purchased the jacket. The funds will underwrite important research and medical care for people with Down syndrome.

LOOKING FORWARD TO WHAT’S NEXT

A successful soon-to-be eighth grader who loves football stats and U.S. presidential history, Daniel is already thinking about starting high school. His parents anticipate he will go to college, enter the workforce, and enjoy an independent adult life. And Daniel has an even bigger goal — he wants to become a police officer.

“People with Down syndrome can do pretty much what they have the opportunity to do,” Elaine says.

As for Von, he is full of optimism as he prepares for his ninth NFL season
with the Broncos and a new head coach. He may be focused on the future, but he still reflects fondly on the Be Beautiful Be Yourself Fashion Show, where his life became a little richer.

“There is just so much love [from people with Down syndrome],” Von says. “I gave so many hugs that night. I walk into our facility every day with my teammates, and don’t even hug those guys, but every single person [at the fashion show] gave so much love. It was amazing.”

Like this article? Join Global Down Syndrome Foundation’s Membership program today to receive 4 issues of the quarterly award-winning publication, plus access to 4 seasonal educational Webinar Series, and eligibility to apply for Global’s Employment and Educational Grants.
Register today at downsyndromeworld.org!