Principal Investigators Dr. Huntington Potter and Dr. Peter Pressman Receive NIH Five-Year Grant to Study Whether Leukine® is Safe & Effective in Improving Cognition in Young Adults with Down Syndrome

 

DENVER Oct. 21, 2021 – Today, the Global Down Syndrome Foundation (GLOBAL) announced that their lead Alzheimer’s scientist and colleagues were awarded a $4.6 million, five-year grant by the National Institutes of Aging to study whether a potential Alzheimer’s disease treatment is safe and effective in improving cognition function in young adults with Down syndrome.

Huntington Potter, PhD, is a professor of neurology, Director of the University of Colorado Alzheimer’s and Cognition Center (ACC), and Director of Alzheimer’s research at the Linda Crnic Institute for Down Syndrome (Crnic Institute). AAC and Crnic Institute are GLOBAL Affiliates. Dr. Pressman is a behavioral neurologist and assistant professor of neurology.

“This is the first clinical trial in years to target cognition in people with Down syndrome,” said Dr. Potter. “We are breaking new ground in studying both Down syndrome and Alzheimer’s disease, and we hope that this therapy will greatly improve their quality of life. We are so grateful to our affiliate, the Global Down Syndrome Foundation, for making this all possible with their early investment in our clinical trial.”

In 2016, GLOBAL and the Alzheimer’s Association joined forces to fund $1 million for Dr. Potter’s Phase II clinical trial of the FDA-approved drug, Leukine®, to determine whether it is safe and can help slow or prevent the progression of Alzheimer’s in the general population. The NIH provided another $7.5 million to complete the trial work which may be complete as early as 2026.

“We are very proud of Dr. Potter, Dr. Pressman, and all our brilliant scientists at the Crnic Institute and the Alzheimer’s and Cognition Center,” said Michelle Sie Whitten, President & CEO of GLOBAL. “And we are grateful that they were able to build upon our promising results in the general population, and then be awarded this important research grant that could help our loved ones with Down syndrome.”

“People with Down syndrome have unfortunately been excluded from a number of previous clinical trials,” said Dr. Pressman. “I’m excited to be able to work alongside this underrepresented group of individuals.”

The grant provides funding to design and complete a clinical trial in adults with Down syndrome using sargramostim, which is a recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF). GM-CSF is used to help increase white blood cell production in some cases of medical care, including after bone marrow transplantation and after induction chemotherapy in older patients with acute myelogenous leukemia.

Previous studies by Dr. Potter and his colleagues have also found that sargramostim treatment is associated with cognitive improvements in leukemia patients. In another clinical trial, Dr. Potter and fellow researchers found that three weeks of sargramostim treatment was safe and well-tolerated in participants with mild-to-moderate Alzheimer’s disease. The treatment was associated with improvement in cognition and with reduced biomarkers of neurodegeneration.

This new study is focused on quality-of-life improvements for members of the Down syndrome community, who have cognitive challenges and are particularly vulnerable to developing Alzheimer’s disease. As they grow older, every person with Down syndrome develops the brain pathology associated with Alzheimer’s disease, often beginning during middle adulthood. It is estimated that over 50% will get the early onset of dementia associated with Alzheimer’s in their 40s and 50s. Thanks to improved medical care, people with Down syndrome are living longer. In 1983, a person with Down syndrome lived to be only 28 years old on average. Today, the average life expectancy of a person with Down syndrome is nearly 60 years and continuing to climb.

A multidisciplinary team at CU Anschutz Medical Campus will study the safety and tolerability of the treatment. “If there is any indication that it is unsafe or not tolerated, the full trial will be stopped,” said Dr. Potter. “Safety is central to the execution of this grant.”

The new trial builds on this previous work and on a laboratory study in which CU researchers, led by Md. Mahiuddin Ahmed, PhD, senior research instructor of neurology, and Dr. Potter, found that GM-CSF reverses cognitive impairment and brain pathology in a mouse model of Down syndrome.

 

About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,000 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and medical care. GLOBAL has a membership of over 150 Down syndrome organizations worldwide and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus. GLOBAL’s widely circulated medical publications include GLOBAL Medical Care Guidelines for Adults with Down Syndrome, Prenatal Testing and Information about Down Syndrome, and the award-winning Down Syndrome WorldTM magazine. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram: @globaldownsyndrome).

About the University of Colorado Alzheimer’s and Cognition Center

​The mission of the University of Colorado Alzheimer’s and Cognition Center (ACC) is to discover effective early diagnostics, preventions, treatments, and, ultimately, cures for Alzheimer’s disease and related neurodegenerative disorders. The ACC is located at the CU Anschutz Medical Campus and is part of the School of Medicine, Department of Neurology. Our center offers clinical care, clinical research, and translational research through a collaboration between the University of Colorado and the University of Colorado Health System. We emphasize both research and clinical care using a team approach, with laboratory research scientists and neurology clinicians, who are also faculty members and clinical researchers at the CU School of Medicine, all working collaboratively on the science and treatments of neurodegenerative diseases. Our center also connects with the community outside of the university with education and support programs, participating in community events, and working with community advisory boards.

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research, spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation, the Anna and John J. Sie Foundation and the University of Colorado, the Crnic Institute supports a thriving research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit crnicinstitute.org and follow us on social media (Facebook & Twitter: @CrnicInstitute).

About the University of Colorado Anschutz Medical Campus

The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Colorado Hospital and Children’s Hospital Colorado – that treat more than two million adult and pediatric patients each year. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by over $650 million in research grants. For more information, visit www.cuanschutz.edu.

 

Press Contacts                                                                          

Anca Call                                                                   Ben Enyart
acall@globaldownsyndrome.org                               benyart@globaldownsyndrome.org
c: (720) 320-3832                                                      c: (720) 548-5626

Press Contacts:                                                                           

Anca Call                                                                   Ben Enyart
acall@globaldownsyndrome.org                               benyart@globaldownsyndrome.org
c: (720) 320-3832                                                      c: (720) 548-5626

DENVER Oct. 14, 2021 – Today, the Global Down Syndrome Foundation (GLOBAL) announced GRAMMY® Award-winning artist, songwriter, actress, author, and philanthropist Sara Bareilles will perform at GLOBAL’s virtual Be Beautiful Be Yourself Fashion Show on Saturday, November 13, 2021. Bareilles will perform her iconic hits including “Brave” and “The Light,” and share her personal connection to our Down syndrome community.

Pro Football Hall of Fame inductee and current General Manager of the San Francisco 49ers John Lynch will receive the Quincy Jones Exceptional Advocacy Award alongside Peruvian advocate and politician Bryan Russell Mujica. Lynch will receive the award for his commitment to athletes who are differently-abled and for the college scholarships he’s provided to young athletes with Down syndrome and other intellectual and developmental disabilities.

GLOBAL is offering exclusive $25 tickets that will provide an extraordinary opportunity for people from across the U.S. and the world to attend this award-winning, inspirational, and star-studded event.

An impressive list of celebrities will join GLOBAL’s guests, including Music Legend Quincy Jones, R&B couple Ronnie & Shamari DeVoe, Disney stars Debby Ryan and Miranda May, award-winning reality show host Jeff Probst, Grey’s Anatomy stars Caterina Scorsone and Eric Dane, award-winning actors John C. McGinley, Zack Gottsagen, Jamie Brewer, and Megan Bomgaars, golfer Brad Hennefer, supermodels Amanda Booth and Beverly Johnson, models Marián Ávila and Madeline Stuart, motivational speakers Tim Harris, Karen Gaffney and Frank Stephens, Denver Broncos Brandon McManus and Justin Simmons, Buffalo Bills’ Harrison Phillips, Colorado Rapids Kellyn Acosta, musician Sujeet Desai, and 9NEWS anchors Tom Green and Kim Christiansen.

Renowned journalists and anchors, Fox News correspondent John Roberts and ABC’s Kyra Phillips, will emcee the event. Twenty-six beautiful models with Down syndrome from eight states and three countries will be featured on the virtual runway. This year’s GLOBAL Ambassadors are Archie and Sevy Eicher, two siblings who were adopted from an orphanage in Bulgaria by loving parents, Lisa and Joey, and siblings, Ace and Radko. Archie is an up-and-coming fashion model who was most recently featured in Gap’s new teen line, and Sevy is an internationally recognized painter with a waiting list of over 8,000.

The Fashion Show will also pay tribute to DeOndra Dixon, the beloved sister of Jamie Foxx who tragically passed away last year. GLOBAL is honoring her memory through the DeOndra Dixon Down Syndrome Research Fund, which raises funds to address medical care and healthcare disparity outcomes for African-Americans with Down syndrome.

Despite the pandemic and a year of tragic loss within the Down syndrome community, GLOBAL has worked tirelessly to provide life-saving information and grants to the community. GLOBAL provided COVID-19 GLOBAL Emergency Relief Grants to over 200 individuals with Down syndrome and their families, and over 30,000 pieces of PPE are continuing to be delivered to those with intellectual disabilities living in group and host homes; the COVID-19 & Down Syndrome Resource, created in collaboration with a consortium of national organizations, was updated to include information on the Delta variant and boosters; and millions in NIH funding has been secured for Down syndrome research and medical care, including groundbreaking research for the Leukine® trial that has advanced to the next stage with positive results in patients with Alzheimer’s disease.

 

More info on Be Beautiful Be Yourself Fashion Show on Saturday, November 13, 2021, at 6:30pm MST:

The event itself will be hosted on ClickBid, a virtual event platform with live stream, auction and donation options. A virtual access code will be sent to ticket holders and can be used on multiple devices.

To support GLOBAL’s work, please consider a donation

To learn more, visit: www.bebeautifulbeyourself.org 

To buy tickets, visit: https://bebeautifulbeyourself.org/2021-beautiful-fashion-show-tickets/

 


 

About Global Down Syndrome Foundation

The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,000 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and medical care. GLOBAL has a membership of over 150 Down syndrome organizations worldwide and is part of a network of Affiliates – the Crnic Institute for Down Syndrome, the Sie Center for Down Syndrome, and the University of Colorado Alzheimer’s and Cognition Center – all on the Anschutz Medical Campus. GLOBAL’s widely circulated medical publications include GLOBAL Medical Care Guidelines for Adults with Down Syndrome, Prenatal Testing and Information about Down Syndrome, and the award-winning Down Syndrome WorldTM magazine. GLOBAL also organizes the Be Beautiful Be Yourself Fashion Show, the largest Down syndrome fundraiser in the world. Visit globaldownsyndrome.org and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram: @globaldownsyndrome).

Building More Than Muscle

October 13th, 2021 by peterm

Building More Than Muscle

From Down Syndrome WorldTM 2021 Issue 3 of 4

Denver Bronco Justin Simmons and GLOBAL model Leeon Grullon share how balance is the key to good health and a good life.


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!

“WHEN LEEON WAS BORN, I could tell something was different about him from his physical features. It wasn’t until a few days later, when Leeon was in the ICU unit, that I received his Down syndrome diagnosis. The nurse who told me said it was best to give him up for adoption,” says Florida native and mother of two, Karla Cubilla. “It was a confusing and emotional time, but I was strongly bonded to Leeon and determined to move forward in life with him, whatever it took. All my efforts went into making sure he was healthy.”

As a professional nutritionist, Karla understands the huge impact that a person’s health makes on their overall quality of their life. Leeon (now 25) and his big sister, also named Karla (26), were raised to prioritize wellness and self-care to live a well-rounded healthy lifestyle. The goal is to find balance in all their activities. This includes a focus on the usual health elements like eating a nutritious diet, incorporating adequate supplements, and exercising regularly, while also keeping up with other important elements that often get overlooked, like social activities, mental stimulation, and emotional wellbeing. Today, the family is living happily in San Antonio, Texas. Karla, the mother, met her fiancé John in San Antonio and is currently building her own nutrition company for athletes. Her daughter Karla is now a licensed occupational therapy assistant in the city, while also managing her own family business. Leeon is a competitive powerlifter and athlete in Special Olympics. In his free time, he enjoys lifting weights and playing sports with friends, while also working on his other talents like DJing, cooking, and Karate. The family has found a variety of fun social activities in their new city, allowing them to continue their balanced lifestyles.

When Leeon was selected as a model for Global Down Syndrome Foundation’s Be Beautiful Be Yourself Fashion Show in 2018, he brought his bright, positive spirit into the spotlight. Leeon’s energy filled the room, and eventually caught the attention of Denver Broncos’ Justin Simmons. Leeon was thrilled to hang out with Justin. The two posed for photos together, where smiles for the camera quickly became a show of muscle flexing and laughter.

“Events like GLOBAL’s fashion show provide an opportunity to learn from amazing people and give back. We all need a community of support and love to be our best selves,” says Justin, who is a dedicated GLOBAL supporter and a regular attendee of the event. He has a similar outlook to Leeon on creating a full, balanced life. “When everything in your life is in line, it allows you to welcome and seize opportunities as they come your way.”

Leeon Cubilla

EARLY INVESTMENT

To create a supportive environment for Leeon, his mother Karla had to create a community from the ground up. “The biggest challenge in raising Leeon was the lack of supportive resources. Sure, I was directed to programs and specialists, but it was up to me to find within and around, that heart-centered emotional support.” At the time Leeon was born, there was no local Down syndrome organization in the area, so Karla used the online community to connect with other parents raising a child with Down syndrome. One common theme Karla learned from the stories she read was the importance of having a strong support team starting at early childhood. Before Leeon was one, he was already enrolled in specialized educational and therapy programs.

Leeon’s teachers have played a big role in his journey so far, influencing both his cognitive progression and at times, regression. “Leeon has had some amazing teachers in his life, ones who really challenged him and pushed him to get to the next level, and then there were others who lacked patience and understanding, which is disheartening to see in the field,” Karla explains.

Leeon and Karla Cubilla

With varying levels of teacher support from year to year, Leeon’s academic career had ups and downs. To get Leeon back on track with school, he and his mom developed a structured home-school schedule. “For anyone, and especially for people with Down syndrome, repetition is important because it reinforces learned behaviors and allows you to build upon that and grow,” Karla says. The schedule followed the same guidelines they used in their healthy lifestyle planning: establish a balance and create healthy habits in multiple areas of life that all feed into accomplishing a bigger goal.

Leeon’s home-school routine included time blocks for homework and studying, family time, physical exercise, social activities, and pursuing his hobbies. Karla’s goal was to bring balance while reinforcing the things Leeon was learning through tutoring, which his previous school had not provided enough of. Establishing a routine creates a work-life balance that allows Leeon to easily manage all the things he wants to do, rather than feeling too overworked in one so another is deprived. For example, after a study session with tutors, Leeon would do something that he enjoyed even more and was both fun and healthy, like lifting weights and doing cardiovascular-friendly routines at the local gym with his friends. “It’s all connected. There was a beautiful integration of Leeon’s growth, while he was becoming a better athlete and a teammate, it was at that same time that his reading and language skills excelled,” Karla says proudly.

Leeon’s lifestyle allows him to center his day around doing what makes him happy. According to Leeon, “I lift weights, that’s how I’m so good looking! I bench press, do push-ups, and lift dumbbells. I like to go to Karate. All the time my mom has me doing yoga. I like it too.”

At just 25 years old, Leeon has accomplished a skill that many people spend their lives trying to master and don’t: discipline.

ROAD TO THE NFL

In 2016, the Denver Broncos selected Justin Simmons in the third round of the NFL draft, and Justin has been the team’s free safety since. The Virginia-born, Florida-raised athlete attributes his success to his faith and a supportive community of friends and family. “I grew up in a Christian home with a white mother and a black father, and I was the oldest of three boys. At times, it was difficult to get both sides of the family to agree on things. But in the face of arguments or disagreements, my parents taught us to unite by putting our faith first. This devotion to our faith allowed us to turn those challenges into opportunities for growth and love.”

This philosophy has guided Justin through his career and his life. “My parents always let me make my own decisions and supported me whether they agreed with them or not. With that strong support from them and my faith in God, I knew everything would be okay,” Justin adds.

Justin Simmons

In high school, Justin preferred basketball as his top sport and had dreams of playing in the NBA. When he began to receive college scholarships for football, he reassessed his options and started to focus on finding his intended path. He was thrilled to get a full scholarship offer from Boston College and eagerly accepted the opportunity.

“Playing college football was extremely humbling. You go from being the best player in your high school to playing in college, where every guy was the best in their high school,” says Justin. “The first couple years were really tough. You’re tempted to get discouraged and doubt yourself, but you have to keep grounded and just earn your spot.”

Justin explains how in these moments, your faith and discipline are being tested and it’s your job to call upon yourself to rise above it and prevail. “Be mindful of what you’re giving your attention to, don’t get caught up in other people’s negative perceptions. There’s a reason you’re driven to do certain things and a reason you’re presented with opportunities to do them. All you have to do is do those things to the best of your ability.”

Entering the NFL, where the competition, criticism, and pressure is magnified times 100, is just another test of strength and character. “As athletes, we’re constantly picked apart and criticized. Mental health is so important because without it, you may start to believe those negative perceptions reflect who you are. What’s most important is being confident in who you are, and knowing you are much bigger than football.”

Outside of football, Justin loves spending time with his family. He is married to his high school sweetheart, Taryn, and together they have a beautiful three-year-old daughter Laney, and another baby girl on the way. Justin and Taryn’s goal as parents is to love their girls and raise them to be the best versions of themselves.

Justin has been recognized locally and nationally for his leadership in the community. He was recently elected a Broncos team captain for the 2021 season. Justin has received the Denver Broncos’ Community Ambassador Award, the Darrent Williams Good Guy Award in 2017 and 2019, and was selected as the team’s Walter Payton Man of the Year Award nominee in both 2019 and 2020.

Justin and Taryn launched the Justin Simmons Foundation in June 2020. “I know that if my community of support hadn’t invested in me, I wouldn’t be where I am today. We need to invest in our youth. They are the future,” says Justin. The foundation provides various services to young people, including opportunities for mentorship, education, athletics, and more. “Launching during a pandemic was definitely not what we expected, but we’re proud of the work we’ve done so far. Now with COVID restrictions lifting, I am really looking forward to getting together with the kids and meeting them face to face!”

As Justin has experienced firsthand through his work with GLOBAL and other Down syndrome organizations like Best Buddies, children who are differently-abled are key members of our youth. “There’s so much we can learn from people with Down syndrome. Their attributes of kindness, generosity, and love are a blessing to everyone around them. They are super smart and capable of accomplishing great things when given a chance to reach their potential.”

As a son, brother, husband, father, friend, and teammate, Justin aims to be a source of inspiration, hope, and support for others.

Justin Simmons with wife and daughter

COMMUNITY OF LOVE AND SUPPORT

Leeon and Justin have learned that having a good life is easy, all you need to do is build yourself to be the best version of you. GLOBAL’s Be Beautiful Be Yourself Fashion Show, where Justin and Leeon met in 2018, embodies that exact philosophy. The event brings people together from all over the world, united to celebrate and support people with Down syndrome.

Justin recalls, “My first time attending GLOBAL’s Fashion Show, I went in thinking it would be a fun, good thing to do with my teammates. You walk in excited to see these big stars like Jamie Foxx and Shia LaBeouf, but then you realize, it’s not even about them. The entire night is about the people with Down syndrome, and everybody knows it. You’re focused on how much fun the models have on the runway and learning about the advocacy efforts to support them. I left feeling so humbled and inspired.”

Leeon loved every minute of being a GLOBAL model. “The whole thing was amazing. It was one of the best nights of my life. My favorite part was waking up that morning, getting dressed up and ready to model for the big show. Taking pictures with professional athletes backstage was another favorite moment,” he says, keeping it cool and just happening to leave out that he walked down the runway with a Broncos cheerleader on each arm!

The Be Beautiful Be Yourself Fashion Show is the largest fundraiser for Down syndrome in the world, having raised over $22 million for life saving research and medical care. The event has received 17 national awards and continues to attract over 1,400 people each year, including featured celebrities such as John C. McGinley, Beverly Johnson, Peyton Manning, Queen Latifah, Natasha Bedingfield, Alec Baldwin, Eva Longoria, and more.

“Quincy Jones set the stage for using his celebrity platform to promote important causes, like Down syndrome awareness. When it comes to philanthropy and giving back to the community, Quincy is the ultimate role model and a living legend,” says Justin. Every year, GLOBAL gives the Quincy Jones Exceptional Advocacy Award to two strong leaders in the community, one leader with Down syndrome who can speak directly for their community and another person with a celebrity platform who can share GLOBAL’s message to the masses.

Leeon Cubilla and Justin Simmons Posing

“The event itself is a huge awareness-raiser featuring over 20 models with Down syndrome some of whom are celebrities in their own right,” says GLOBAL President and CEO Michelle Sie Whitten. “The evening actually changes you, especially if you are new to the Down syndrome community. You walk away understanding what discrimination and struggles we face, but also celebrating our advances in inclusion and life-changing research and medical care.”

Karla’s main takeaway was a common one that many parents have: good health is the common denominator for a good life. Karla tells, “As parents of children with Down syndrome, we’re always asking questions. Information is a vital part of our journey. It is with information that we can better understand the unique physiology of our children with Down syndrome and learn how to best assist them. Information makes us aware of choices that could enhance our child’s life. My continuous search for information is what led me to the Global Down Syndrome Foundation. GLOBAL is a valuable source for information, they have answers to our questions, even for the ones we didn’t know to ask. We need to help GLOBAL advocate for increased funding for Down syndrome research.”


SAVE THE DATE! To buy tickets for GLOBAL’s 2021 virtual Be Beautiful Be Yourself Fashion Show, visit bebeautifulbeyourself.org

September 2021 Newsletter

September 30th, 2021 by Ben Enyart

Music Videos & Advocacy – Your September Newsletter

What You Should Know About Celiac Disease & Down Syndrome

From Down Syndrome WorldTM 2021 Issue 3 of 4

Symptoms, Treatment, and Misconceptions


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!

WHAT IS CELIAC DISEASE?

Celiac disease is an autoimmune disease that is triggered by eating gluten. Unlike a gluten intolerance, celiac disease damages the small intestine, making it difficult for the body to absorb much-needed nutrients. About 1% to 3% of the general population is estimated to have celiac disease, but one recent study estimates that people with Down syndrome are six times more likely to develop celiac at some point in their lives. Celiac disease can cause intense pain and have major long term health impacts. It is important for people with Down syndrome to learn to recognize the symptoms and to follow a strict treatment protocol in order to maintain a good quality of life.

MEGAN’S DIAGNOSIS

Megan Bomgaars, reality TV star and GLOBAL Q-Awardee, inspires people all over the world with her incredible advocacy. She’s known for her big personality and ability to move a room to tears with her powerful words. What many don’t know about this strong woman is that she also has celiac disease.

Megan’s mom, Kris Bomgaars, recalls when Megan’s doctors told her Megan was experiencing failure to thrive, a medical condition characterized by inadequate growth. She was small for her age and had chronic sinus infections. By the first grade, she was experiencing abdominal pain, vomiting, and constipation on an almost daily basis. Megan’s teachers told Kris that these symptoms were the result of school avoidant behavior and a bad attitude, but Kris didn’t buy it. “Well, I knew as a mom, and also as a special education teacher, that she actually really loved school, and she loved every subject in school,” Kris remembers. Kris noticed that Megan’s gastrointestinal symptoms consistently occurred after eating the school-provided lunches every day, which made her think that Megan was having a reaction to ingredients in the meals. It still took months of advocating for her daughter to get a diagnosis. “There was one week I took her to the pediatrician every single day because she was literally crying in pain.”

At first, Megan’s doctors diagnosed her with malrotation (a condition where the intestines do not form correctly), but when they performed surgery, they found that Megan’s small intestines had completely atrophied. It was only then that the doctors confirmed that Megan had celiac disease through a blood test and a biopsy.

LEARNING ABOUT CELIAC DISEASE

Megan’s story is a common one for people with Down syndrome who also develop celiac disease. Dr. Marisa Stahl, a pediatric gastroenterologist at the Colorado Center for Celiac Disease, says that the wide variance of symptoms and overlap with other autoimmune and gastrointestinal disorders (common in Down syndrome) makes diagnosing celiac disease difficult, especially with children who may have difficulty expressing their symptoms. Celiac disease can develop at any age and having a celiac diagnosis also may indicate that you have a predisposition for developing other autoimmune diseases.

The most common symptoms of celiac disease include:

  • Abdominal bloating and pain
  • Chronic diarrhea
  • Vomiting
  • Constipation
  • Brain fog or headaches
  • Weight loss or poor weight gain
  • Irritability
  • Delayed growth or puberty
  • Fatigue
  • Anemia
  • Behavioral changes

Any or all of these symptoms could indicate celiac, although Dr. Stahl notes that celiac can also manifest as other symptoms of autoimmune disease. She says, “It can affect every system in your body. Continued exposure to gluten over time can lead to long-term consequences, such as poor growth, vitamin deficiencies, neuropathies, osteoporosis, and certain intestinal lymphomas, just to name a few.” It is also possible to have celiac and not have any symptoms, a condition known popularly as “silent celiac.”

Even asymptomatic celiac disease causes damage to the small intestine, so screening is important for those who may be at higher risk. There are two common tests for celiac disease: the first is a blood test, also known as the tTG-IgA Test. Because eating gluten causes an increase in certain antibodies for people with celiac, testing for these antibodies in the blood of someone who might have the disease often can point doctors in the direction of a diagnosis. If the blood test reveals an increase in those antibody responses, medical professionals will administer the second test, an endoscopic biopsy. This biopsy is a minor surgical procedure where a doctor will test a small part of the patient’s small intestine for signs of damage. The biopsy is currently the most common way to diagnose celiac disease. There are some special circumstances where the diagnosis may be made based on additional blood testing.

WHAT IS THE TREATMENT FOR CELIAC?

The only treatment for celiac disease is a total and lifelong gluten-free diet. This diet relies not only on eating gluten-free food but also on embracing a gluten-free lifestyle. Some forms of celiac are more sensitive and require elimination of all gluten-free products, but eliminating any ingestion of gluten is essential. As Megan learned through her journey with celiac, many shampoos, toothpastes, cosmetics, and even stickers contain gluten. Many medications have some form of gluten as one of their ingredients. Cross-contact is also an issue: the same kitchen equipment used to prepare meals with gluten cannot be used to prepare gluten-free food. Once Megan started her gluten-free diet (she also eliminated dairy), her symptoms disappeared, and she began to thrive in a way Kris had not seen before. She grew four inches over the summer, her previously frequent sinus infections ceased, and she no longer had the daily abdominal pain or other gastrointestinal symptoms that made school so difficult. Kris remembers being amazed at the transformation: “All it took was a diet change, and it changed the entire course of her life.” Megan does not remember life before the diagnosis, but she is very aware of the consequences of coming into contact with gluten based on a few accidental encounters over the years. Even the smallest contact will make her sick for days.

There is ongoing medical research for other treatments for celiac disease, including some promising medications, Dr. Stahl says, but none of them are currently as effective at preventing symptoms and long-term damage as a gluten-free lifestyle.

COMMON MISCONCEPTIONS ABOUT CELIAC

Because of the recent popularity of gluten-free diets over the past decade (especially due to high profile celebrities adopting this diet), there has been an exponential increase in the availability and awareness of gluten-free food. Restaurants like P.F. Chang’s (one of Megan’s favorites) have begun providing designated gluten-free menus with procedures to ensure no cross-contact. Kris notes that stricter labelling laws have also made it much easier to determine if a product is gluten-free, and because labels are more accessible, Megan has gained independence over her shopping and eating habits. There are even apps now where you can scan the barcode of a product, and the app will tell you if it contains gluten. Kris says that it is much easier now to navigate eating out than it was when Megan was first diagnosed. “I mean, in the beginning, I remember one time I asked for a gluten-free menu, and this poor server handed me a martini menu,” she recalls.

However, this newfound trend of gluten-free diets has also led to some misconceptions about celiac as well. Dr. Stahl believes that this is in part due to “a lot of celebrities who also follow a gluten-free diet because they perceive it as being healthier. As a result, there are a lot of restaurants that have developed, for instance, gluten-friendly menus, but they’re really not taking the strict precautions that you need to take in order to ensure serving safely gluten-free foods, things like cross-contact.” Kris says that at first, people sometimes believe that she and Megan follow a gluten-free diet as part of a fad, not realizing the serious consequences of Megan eating gluten. One of the more difficult challenges of Megan’s diagnosis was educating family members. She recalls asking, “Does grandma really understand what gluten is? Because for that generation, celiac disease really wasn’t that big of a deal.”

On the other hand, Kris said that some parents of Megan’s friends stopped inviting her to birthday parties or to other playdates because they were afraid of the consequences of accidentally feeding her gluten. “She didn’t get a lot of invitations until I started saying I’ll pack every ounce of food, you don’t need to worry about it. It’s not anaphylaxis, so it’s not like a peanut allergy.”Much of social life in the U.S. and around the world revolves around food and dining out, so it can be extremely difficult for people with celiac to maintain a social life if the people around them are not willing to learn or accommodate their dietary needs.

WHAT SHOULD I DO IF I THINK MY CHILD OR I MIGHT HAVE CELIAC?

Dr. Stahl notes that while there is no consensus on screening guidelines for celiac disease for people with Down syndrome, her center recommends that screening begin at 3 years of age, unless symptoms begin to develop earlier. She also notes that screening should continue at intervals because celiac disease can develop at any age. It is important to note that these symptoms could also indicate other gastrointestinal or autoimmune conditions; it is also important that you consult your doctor if you suspect your or your child’s symptoms might be caused by celiac. Trying to implement a gluten-free diet on your own without a diagnosis and support from medical professionals and a dietitian is not advisable, Dr. Stahl says. You could be eliminating important sources of fiber and other nutrients without the proper education. She also advocates that anyone diagnosed with celiac disease, especially those with Down syndrome, see a psychologist. Major changes in diet, especially if food is a source of comfort or social inclusion, can have a negative impact on mental health, so it is important that someone recently diagnosed with celiac develop support systems.

Kris recommends that if you or your child has recently received a diagnosis of celiac that you join a celiac support group. “The best advice I got was from other people who had celiac disease,” Kris shares. The one that Kris joined when Megan was first diagnosed helped her learn to read labels and other strategies for how to determine which foods were safe.

Megan says that her diagnosis doesn’t prevent her from enjoying food. She enjoys rice, sushi, gluten-free and dairy-free pizza, and making her own ice-cream sundaes.

To learn more about celiac and to find resources, please visit
celiac.org/about-celiac-disease/symptoms-of-celiac-disease