Connective Issues - Fall 2019

Focus on Ensuring Access Fall 2019

2019 ANNUAL CONFERENCE REVIEW

ENSURING ACCESS FOR YEARS TO COME

VOLUNTEERS FOR VICTORY – THAT’S YOU!

AN EXCITING TIME IN THE LIFE OF THE FOUNDATION

The Marfan Foundation’s mission is to save lives and improve the quality of life of individuals with Marfan syndrome, Vascular Ehlers-Danlos, Loeys Dietz, and other genetic aortic conditions. We work tirelessly to advance research, serve as a resource for families and healthcare providers, and raise public awareness. We will not rest until we have achieved victory.

This past summer, we celebrated our 35 th Annual Conference anniversary, took stock of how far we have come in our fight for victory, and set ourselves up to take the next steps in building a better world for people living with Marfan, Loeys Dietz, Vascular Ehlers-Danlos, and other genetic aortic conditions. While Annual Conference is only

one weekend each year, it brings focus to and is a celebration of what our community does all year around. Many thanks to the sponsors, partners, and our host, Texas Children’s Hospital, for a spectacular weekend. Special thanks, also, to Joseph Coselli, MD, for his boundless support of this Annual Conference. One major milestone was the announcement of our Ensure Access Campaign , which was launched to support Conference scholarships for years to come. This campaign is now closing in on its $1 million goal thanks to the support of so many individuals in our community who want to share the life- changing experience of Conference with others. Another exciting and positive step has been the partnerships and leadership that have allowed us to bring more attention and focus to Vascular Ehlers-Danlos, Loeys Dietz, and additional related genetic aortic conditions. New Conference offerings specifically for these conditions added a new layer of depth and understanding for all members of our community. I’m already looking forward to our 2020 Annual Conference in Boston. We hope you’ll join us and Boston Children’s Hospital, July 9-12, for what is sure to be another remarkable experience.

Learn more and get involved at Marfan.org.

CONNECTIVE ISSUES FALL 2019 VOLUME 38 | NUMBER 3 Connective Issues is the newsletter of The Marfan Foundation. It is published three times per year.

Sincerely,

Inquiries should be addressed to: Publicity@Marfan.org

This issue of Connective Issues is made possible through a grant from the Chu and Chan Foundation. All photos in this edition of Connective Issues are courtesy of Tim Joyce, unless otherwise noted.

Michael Weamer President & CEO

ON THE COVER: Conference Children’s Program volunteer, Marty Farley , pictured here with Fiona Grace McCray , age 7 at the 2019 Annual Conference. Fiona was diagnosed with Marfan syndrome at age 3. About her Conference experience, Fiona said, “My favorite part of the conferences are the parties, there is something to do all the time and the classes are fun too.”

2020 ANNUAL CONFERENCE Mark your calendar now to join us July 9-12, 2020 in Boston for the 2020 Annual Conference, in partnership with Boston Children’s Hospital.

THE MARFAN FOUNDATION 22 MANHASSET AVENUE PORT WASHINGTON, NY 11050 516-883-8712 | 800-8-MARFAN MARFAN.ORG

2019 ANNUAL CONFERENCE STATS & SNAPS

629 ATTENDEES

THREE MOST POPULAR ACTIVITIES General Session Welcome Dinner & Awards Evening of Laughter 1

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97% CONNECTED VIA CONFERENCE APP

35 STATES 16 COUNTRIES

Fall 2019 3 Photos courtesy of the Marfan & related conditions community

u The Living Sucessfully Panel included community members Chris Heaney, Mary Sheppard, MD, Megan Boeglin, and Betcy Mattarita.

LIVING SUCCESSFULLY PANEL

meant looking for places that either had a recognized center of Marfan expertise, or at least had a medical school and a world-class reputation for advanced cardiac care. I wanted a place with an established Marfan community, as I appreciate the value of connection with people who understand how complex our lives can be, and also to help identify good doctors. Interesting culture, good mass transit, and climate were also things I looked at when considering a permanent relocation. Megan Boeglin - My journey with vEDS began in 2007, though I wasn’t diagnosed for another 9 years. When I was finally diagnosed, I was 27-years-old with two aneurysms. My life as a “walking time bomb” began. After pleading my case with our geneticist, I was tested for vEDS. Of With a lot of patience, understanding, and tenacity, I've developed working relationships with our physicians and we share a mutual respect for managing this condition. - Mary Boeglin, vEDS community member

When our first Annual Conference was held in 1984, the idea of a Living Successfully Panel would have seemed out of place. In those early years, conferences were not focused on quality of life as physicians, researchers, and families were solely focused on extending the lives of those affected by Marfan syndrome. Now, the Living Successfully Panel features people with Marfan, vEDS, Loeys Dietz, and other genetic aortic conditions who share their journey with their diagnosis. The panelists, age 30-60, represent a range of life experiences and offer valuable advice for how they improve their quality of life, despite their diagnosis. Betcy Matarrita – For me, living in Costa Rica, being able to come to Walks and Conferences means a lot. Meeting people who actually understand the struggle and are always there for me, no matter the distance or circumstances, has helped me to open up about my medical condition to others. It’s given me the courage to educate others about Marfan and to show that you can live a normal life as long as you choose to live with positivity. As a young adult, I understand how hard it is to fit in, and we often question our beauty and worth. But, I’ve learned not to worry about things I can’t control and just to be me. Mary Sheppard, MD – During high school, I became involved by

showing the Foundation’s video about aortic dissection to over 120 medical professionals throughout the state of Kentucky. During college, I had my aortic root replaced. Then, I went to medical school. Now, I am a physician- scientist at the University of Kentucky, doing exactly what I dreamt about as an eight-year-old girl. I run an aorta clinic, caring for patients with Marfan syndrome and related conditions. I also have a research lab studying mice who have Marfan syndrome. I love the work I do and I feel incredibly fortunate to be alive. However, the key to living successfully, in my opinion, has been the personal relationships that I develop with those around me. I am incredibly fortunate to have a wonderful, supportive husband. We have two awesome daughters, as well as a son who is due in November. My parents and siblings, as well as seven nieces and nephews, live within 20 minutes of my house. It is an honor to be part of their lives every day. Throughout my life, these relatives and friends have helped me embrace my diagnosis and make the most of having Marfan syndrome. Chris Heaney – I recently moved from Austin, TX, to Durham, NC. My move was prompted by a need to live in a city where I could get a great level of medical care and could see myself living the rest of my life. I wanted to find a city that could support the quality of life I want. That

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stepmother, daughter, patient, friend, and healthcare professional. I do my best to balance and prioritize my roles while taking time for my own self- care. I am also the advocate for myself and our children. With a lot of patience, understanding, and tenacity, I’ve developed working relationships with our physicians and we share a mutual respect for managing this condition. Another huge resource has been the vEDS community and getting involved in awareness and research opportunities. I am eternally grateful for the friends I have made and for the knowledge I have gained from others in similar circumstances. Connecting with other vEDS families has not only been comforting but also extremely inspiring. I’m very excited for the progress we are making and partnerships we’re building. I’m overwhelmed with hope for all of our futures.

course my test came back positive. For me it was validation with an odd sense of relief to have some answers. But then my daughter, Zoe, was given a vEDS diagnosis and I was utterly devastated. Thankfully my parents’ tests were negative. Then just a few weeks later, as fate would have it, I found out I was pregnant with my youngest, Izaak. Life was a roller coaster! I relied on my support system. I began connecting with other vEDS families. Being a nurse was a blessing because I understood what I was up against from a chronic illness standpoint and I could “speak doctor.” Emotionally, I recognized that I was experiencing the stages of grief. I was anxious, depressed, angry, and felt so much guilt for passing this on to my kids. Yet almost right after Izaak was born, I transitioned into the acceptance phase of the process. I had to move forward and take action. I am a mother, wife,

RELOCATING? Longtime community member and advocate, Chris Heaney, made the decision to relocate as a way to live successfully into his retirement. Here are some of the points he shares for others with similar conditions, who may be considering a move. Look for a city where you can get the same (or better) medical care than where you are currently. Evaluate the medical professionals in your new potential city for the expertise in treating people with your condition and their level of coordinated care across the specialists you see. Download our institution directory at Marfan.org to find hospitals where there is expertise and experience treating these conditions. Look for cities within reasonable proximity of your medical specialists. The number of specialists you see is likely to increase as you age so frequent travel to appointments, along with the potential costs, are important to consider. Consider what kind of weather impacts your health. For many with genetic aortic conditions, extreme cold or heat are physically stressful and hazardous. conditions community are more active. Connections with people who understand complex medical conditions are great for shared support and for helping identify medical professionals and other resources. Evaluate what kind of culture and activities are important to you now, and what may be in the future. Quality of life is important whether or not you live with a genetic aortic condition. Take a look at mass transit and rideshare options in your potential new city. This gives you a fallback if there comes a time when you cannot drive yourself to appointments. Research where members of the Marfan and related

TOOLS FOR LIVING SUCCESSFULLY ALL YEAR ROUND Learn new ways to empower yourself and improve your knowledge with free webinars at Marfan.org. All webinars are recorded and available for viewing whenever and wherever it is convenient. Topics cover a wide range of medical and quality of life topics, selected based on the needs expressed by our community members. UPCOMING LIVE WEBINARS

Neutral Corner Inc. “Stop Bullying” Patrick Ireland, President of Neutral Corner Inc. OCTOBER 10, 2019, 8:00 PM (EASTERN TIME) Medical Marijuana for Pain Jordan Tishler, MD, Cannabis Specialist NOVEMBER 18, 2019, 8:00 PM (EASTERN TIME)

OCT 10 NOV 18 DEC 9 JAN 16

Management of Dissections and Aneurysms in vEDS Sherene Shalhub, MD, University of Washington DECEMBER 9, 2019, 7:00 PM (EASTERN TIME) Dental Concerns in Marfan Syndrome & Related Conditions Sylvia Frazier-Bowers, DDS, PhD University of North Carolina-Chapel Hill JANUARY 16, 2020, 7:00 PM (EASTERN TIME)

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Fall 2019

GIVING BACK AT THE HEALTH FAIR

p Healthcare professionals and partic- ipants at the 2019 Annual Conference Health Fair. Medical equipment donations by Hitachi, Siemens, and Ndd Medical Technologies brought the highest level of quality into each visit.

to get the overwhelmingly positive experience offered to patients at the Health Fair. It’s quite another to get to see it from the other side. Daniel said, “The number of people who attend the Health Fair is more than I realized and I was surprised by the number of children we saw. This hit home with me because I was in their situation just a few years ago.” The Health Fair is the main draw to the Annual Conference for many first-time attendees who cannot otherwise access the level or breadth of expertise in Marfan, vEDS, Loeys Dietz, and related conditions available all in one place. Like many others, that first time at the Annual Conference is just the start. And for Daniel and Debbie, the value of the experience keeps getting stronger with each year they attend and volunteer.

But after attending several conferences, Debbie says the two decided they wanted to do more. “I wanted to give back and do more,” she said. Daniel shared that volunteering at the Health Fair was “a unique and excellent opportunity to help a community that has helped me so much over the last 10 years.” The hours as a Health Fair volunteer are long and can be difficult, but both Daniel and Debbie enjoy getting to know the people who come for appointments and learning about them. Plus, they were inspired by the number of doctors who are at the Health Fair and the number of hours they give to see patients. This has been valuable insight, especially for Daniel, who aims to go into the medical field. It’s one thing

The Annual Conference Health Fair is among the most powerful experience for first-time attendees and returners alike. Meeting top physicians and experts in all fields in one place has saved the lives of countless members of our community. For Debbie and Daniel Peters, the experience of attending a Conference Health Fair was so profound that they’ve returned as volunteers since their first experience in 2016 in Rochester, Minnesota. The mother-son duo attended that year to get medical questions answered and learn better ways to manage day-to-day life at home. As a patient, Daniel, who has Loeys Dietz syndrome, says he likes “getting recommendations on what the best treatment is that can help improve my day-to-day function at home.”

Each year, members of the Foundation’s Professional Advisory Board and other top physicians, who are leading experts on Marfan and related conditions, donate countless hours to provide a life-affirming Conference experience to every attendee. These doctors give freely of their time during the Annual Conference. They consult with individuals and families during the Health Fair, give medical presentations, lead workshops, and answer questions from participants during sessions and informally. The Marfan Foundation Annual Conference experience is only as valuable as it is because of the support of these expert and passionate physicians. Thank you to the PAB and members of the medical community who made this year’s Health Fair possible! THANK YOU, MEDICAL LEADERS!

Photo courtesy of Daniel Peters

p Daniel and Debbie Peters both volunteered at this year’s Health Fair during the Annual Conference in Houston.

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PERSONAL HEALTHCARE ADVOCACY

Heaney, who has an extensive and complicated medical record since he was diagnosed with Marfan syndrome at age three. “Your doctor will be able to get down to business with what you’re there for because the information they need is right there. Having that information available makes you more likely to be heard, which can be such a big issue for people with complex conditions.” Organizing medical information is key to being a personal advocate for your healthcare. This is particularly important for individuals with rare conditions like Marfan, Vascular Ehlers-Danlos, Loeys Dietz, or other genetic aortic conditions. When a full team of skilled professionals are not available, Dr. Shaine Morris of Texas Children’s Hospital advocates for individuals to cultivate a personal medical champion. “When the condition is rare, there are few medical institutions that have multiple specialists. Most patients have a champion who slowly trains the people around them,” said Dr. Morris. “Another good practice is to go once a year to a center that offers many specialty services.” But even with a champion, an emergency situation is going to present special challenges for people with rare conditions. This is where a

When living with a complex medical condition like Marfan, vEDS, Loeys Dietz, or another genetic aortic condition, personal healthcare advocacy is vital to obtaining the best possible care. This is especially true in geographic areas where there are not wide ranges of specialists to see. Finding a personal medical champion and utilizing tools like Backpack Health can help. Conference registrants who wished to attend the Health Fair completed their application by filling out their sharecard in Backpack Health. This gave full medical history details to all the Health Fair physicians, improving the efficiency and quality of the experience for everyone. Beyond the Health Fair, the incorporation of Backpack Health also equipped every participant with the best tool available to be their own personal health advocate on an ongoing basis. Backpack Health is a free app that makes it easy for everyone to access, compile, and control all their health information to support better health for themselves and their loved ones. Having all medical information in one secure place allows users to advocate for their best care. “Doctors take what you say more seriously when it’s clear you’re organized and engaged, said Chris

Organizing medical information is key to being a personal advocate for your healthcare.

“At the Health Fair, the echo tech was wishing she had known my husband’s previous LV volume and just pulled up Backpack Health to find it. I didn’t have to bring anything with me. This was a blessing because it means that no matter where we go, the medical professionals will have access to our medical history.” – Linda Westmoreland Backpack Health is available in six languages, the sharecards are also a great benefit when traveling. With Backpack Health, you control your medical records, which is key to your personal healthcare advocacy. tool like Backpack Health can again be a literal life-saver. Users can create “sharecards” within Backpack Health to provide specific information to others, such as new doctors you are visiting, emergency care providers, school nurses, or other family members. You choose which information goes on each sharecard and you choose who to share the information with. Because

u SPONSORS PRESENTER Texas Children’s Hospital LEADER American Communications Construction Backpack Health Baylor College of Medicine Hitachi Joseph Coselli, MD CONVENER Ambry | GeneDx Invitae | Orthopediatrics CONTRIBUTOR Ndd Medical Technologies UTHealth | Siemens

u PLANNING

THANK YOU Special thanks to the following individuals and companies who were instrumental in making this year’s conference a huge success. We couldn’t be more grateful for your time, talent, and support!

COMMITTEE

CO-CHAIRS Alix McLean Jennings, LCSW The Marfan Foundation Board of Directors Maya Brown Zimmerman The Marfan Foundation Professional Advisory Board Advisor Amy Flanagan | Peter Donato Rachel Guderian | Becky Gunn Sarah Jeffs | Marco Simpliciano HOUSTON REPRESENTATIVES Shaine Morris, MD Taylor Beecroft, CGC Lisa D’Alessandro, MD Jose Soto | Karen Wilkinson COMMITTEE MEMBERS Lou Arias | Pam Austin

Join Backpack Health and the Marfan and Related Conditions International

Patient Registry at: https:// my.backpackhealth.com/join/ MarfanRelatedDisordersRegistry

u HOST Texas Children’s Hospital

u PHOTOGRAPHY Timothy D. Joyce Photography

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ENSURING ACCESS FOR YEARS TO COME

On Friday, July 12, the Foundation announced the Ensure Access campaign, a new campaign that is shaping the future of our Annual Conference. During the Annual Conference, $28,500 was raised toward the $1 million goal that will support Conference scholarships for another generation, bringing the current total to $900,408. Those who have attended conferences in the past know the impact of learning, laughing, and sharing as a community of people that knows first-hand about life with a genetic aortic condition. Despite the value of this experience, many people are not able to attend due to financial limitations. Over the years, several scholarship funds have assisted individuals and families that need support in attending the Annual Conference. The Ensure Access campaign will add to those funds and provide scholarship support for the next fifteen years or more. With the community’s help, we will ensure access for thousands of individuals so that more people can benefit from the life-enhancing and life-saving impact of the Annual Conference.

p Annual Conference is a life-changing experience for individuals and families of all ages who are living with Marfan syndrome and related conditions. Participants can learn from leading medical experts and connect with others who are on the same medical journey.

q (L-R) Ensure Access Chair Patricia McCabe with Lindsey and Ben Weisman, and Michael Weamer, the Foundation CEO, at the conclusion of the 2019 Annual Conference. In total, 142 conference attendees made donations to the Ensure Access Campaign. A challenge matching gift from the Weismans brought the total to $28,500.

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FROM RECIPIENT TO DONOR

Mike and Sundie Scribner were the first people to donate to the Ensure Access campaign after it was announced at the Conference Welcome Dinner. This was Mike and his mom’s third Conference, and they didn’t miss a beat in deciding they wanted to contribute to Ensure Access. “Our first Conference changed our lives,” said Mike. “And we were blessed to receive scholarships that ensured our access.” For Mike and Sundie, Conference has been about much more than learning – it’s about “the invaluable experience of being surrounded by individuals who know exactly what you’re going through,” said Mike. And that is why this mom and son couldn’t wait to pay it forward. “We want each individual affected by Marfan or a related genetic aortic condition to get to Conference and realize that, for as long as they live, they are now part of a family,” said Mike. “That family is dedicated to answering every question, putting to rest every concern, and staying

Photo courtesy of Mike Scribner p (L-R) Mike and Sundie Scribner, pictured here with Jamie Scribner, were the first Annual Conference participants to contribute to the Ensure Access Campaign because they want to be sure this experience is available to anyone who seeks it in the future.

dedicated to them and their journey.” Mike and Sundie’s contribution was a gift from the heart. The average donation amount at Conference was $35, which may not seem like a lot in the face of a $1 million goal, but it is a lot when you know that every dollar will work to change someone’s

life each year, for years to come. Mike points to the Foundation’s tagline - Know the Signs, Fight for Victory - in encouraging everyone to get involved. “A contribution, no matter the amount, will help others ‘know’ and ‘fight’ for many years to come.”

Find out more about

how you can help Ensure Access at Marfan.org/ ensureaccess

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Fall 2019

A LIFE SAVED BY SCHOLARSHIP

We often hear that, for people living with Marfan, vEDS, Loeys Dietz, and other genetic aortic conditions, coming together for Annual Conference is life-changing. For many, accessing the expertise, education, and empowerment offered by Conference is a complete change from how they thought of their diagnosis before. Then there are those who take the impact of Conference from life-changing to life-saving. Linda Westmoreland, of Arlington, TX, and her family were in the latter category when they attended the 2019 Annual Conference, which was made possible because of the scholarship they received. This year was particularly important for Linda’s family as her husband and her 13-year-old daughter were both recently diagnosed with Loeys Dietz syndrome. Fortunately, for both, the Conference held what they needed most. Layla, Linda’s daughter, was grieving her recent diagnosis. Thanks to the scholarship that ensured her access to Conference, she was able to begin moving forward. “She’d just received confirmation of her Loeys Dietz diagnosis the day we got notification of the scholarship,” said Linda, “That pulled her out of a dark moment into an action-oriented one. We sat down that night and I am forever grateful to the family who made it possible for us to attend this conference. They have given me things that are priceless.

Photo courtesy of Linda Westmoreland p The Westmoreland family credits their Annual Conference scholarship with extending the life of their father and husband, William Sr., pictured far right in the top row. William Sr. and his daughter, Layla, pictured in blue next to her dad, both live with Loeys Dietz syndrome.

picked out which sessions she’d attend. She began looking forward to meeting other people like her.” Layla left conference with tools for advocating for her own care, building better sleep habits, and reassurances about her orthopedic and pain management. These alone would have been huge wins for the Westmoreland family. But Linda’s husband, William, was also along with a recent diagnosis. His doctors at home had identified grave concerns, but had not offered positive options for intervention. During the Conference Health Fair, the medical experts uncovered an additional aneu- rysm needing immediate attention. At first, this seemed like a nightmare sit- uation, but in the hands of the Health Fair medical professionals, it became a catalyst for hope. Linda said Dr. Siddharth Prakash, of UT Health, gave the family a very different perspective than what they had been given at home. Dr. Prakash told William, “You are 43. You have children. This is no time to give up. We can help you!” Between this meeting with Dr.

Prakash and the support Layla received, the Westmoreland family got information they can use to better advocate for themselves with their regular physicians and connections to top medical professionals to help continue to lead William’s care. The Conference, and specifically the scholarships that brought the Westmorelands there, saved a life. “I am forever grateful to the family who made it possible for us to attend this Conference,” said Linda. “They have given me things that are priceless. They have forever impacted a 13-year-old girl who was grieving her diagnosis. At the Health Fair, we were alerted that the care we were getting didn’t include enough monitoring. It is likely that, because of the experts we met at the Conference, I will have more time with my husband than I previously thought. The Conference gave us a community of people who make us feel at home because we know they understand.” Life-changing and life-saving all in one family. And all because someone else wanted to ensure access for a family just like the Westmorelands.

- Linda Westmoreland

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ENSURE ACCESS DONORS Sarah Kim Dong Kim David Kim

Jodi Raines Tejaswini Rankomar Michael Raspatello Susan and Devin Reaves Ann Reinking Laura and Bernard Rivers Jonathan Rodis and Kathleen Kane Mary Roman Linda and Timothy Schuetze Chad and Kim Schwanbeck Michael and Sundie Scribner Amelie Sharp Andrew and Angela Shaw Mandy Shaw Mary Sheppard Jim Sidorchuk and Susan Toporowski Avry Smith Kelly Smith Susan Sobers Josh Souza Paul and Amy Sponseller Janet Stone Tracy Stoppelmoor Sunita Sundarsita and Samyuktha Sundar David and Lisa Szakovits Andrea Taylor Josie Teti Jordan Tishler Kaydra Townsend Michael and Debbie Tracey Beth and Derik Utz Dale, Grace and Joy Vandeventer K. and Diane Verzani Irina Volguina Regina Wagner Michael and Karen Weamer Benjamin and Lindsey Weisman William and Linda Westmoreland Karen Wilkinson Hazel Williams Keith and Tera Woodhouse Shelly, Tom and Kelsey Wooten Luciana Young Mark Zimmerman and Maya Brown-Zimmerman Jon R. Tullis Debie Turner

Alison Kline Kelly Kopish

The following donors have contributed toward the Ensure Access Campaign goal to raise $1 million to be used for Annual Conference Scholarships over the next 15+ years. Donors through September 30, 2019, include:

Jane and Kevin Kottmer Tom and Denise Kraemer Lukas Kruidenier Ronald Lacro Jeff LeSage Stephanie Lawson Heather Layton Susan Leshen Robert and Barbara Levy Andrea Lewis Lily Li David Liang Sue Gisslow Martin Loeb Cristina Luna Jan Lynch Jean MacLeay and James Oliver Steven and Amelia Marpman Judy Marshall Megan and John Martin Julia Martinez Eileen and Michael Masciale Betcy Matarrita and Michael Prado Lauren May Patricia McCabe and Miguel Estrada Amanda McCaskill Kate McCray David and Sheila McLean Michael and Kelly Middendorff Dianna Milewicz Noa Milman Kathleen Mimnagh and Jose Fernando Cevallos-Candau Nazeema Mohamed Brandon and Shaine Morris Susan and Tyrel Mullendore Maureen Murphy Dominga Noe

Anonymous Amy and Scott Avitabile Steve and Norah Beckholt Taylor Beecroft Eric and Heather Bergstrom Suzanne Bourgeois Juan Bowen Robert and Joy Bradbury Alan and Rebecca Braverman Christopher Buckley Kara Burke Anthony Caffarelli Duke Cameron Arthur and Carey Caputi Daniel Caroline Melanie Case Jonathan Casey Emily and Tony Chu Teresa and Tom Cohn William and Nancy Conger Heidi Connolly David Noe and Stephanie Cooper-Noe Jeannette Coppess Joseph Coselli Kelly Cox Dwight Crawford Laura and Bruce Criddle Angela Crist Lisa D’Alessandro Teri Dean Corinne and Richard Devereux Hal Dietz Roy Dobson Heather and David Earnhart Cory and Angela Eaves Michael Edwards Justin and Jamie Efurd Jay and Mary Elliott

Joy Foote David Fournier Sylvia Frazier-Bowers Patrick and Michelle Gaddie Rebecca Gatwood Joseph Giannelli Judy and Rocco Gibaldi

Leonard Girardi Emily Glogowski Eric Gonzalez Eduardo Gonzalez Deborah Goodman

Amie and Rhodrick Gray Becky and Aaron Gunn Elton Harris Tonya Harth Michele Haught Chris Heaney Edith Cnossen-Helsloot and Paul Cnossen

Jill Hendrickson Gwenn Herman Malcolm Herman Beatriz Hernandez Jesse Hildebrand Stacie Hildebrand Gloria Hollowell Rachel Houston Michelle Hunter Glen Iannucci

Christopher Ihde Melinda Jackson Ezra and Alexandra Jennings David Johnson Debra Johnson Gary and Mary Kauffman Adam and Katherine Kauffman Caryn Kauffman Inderjeet Kaur Tammy Kegley Selma and Robert Kerzman Jennifer Kim

Jolynn and Donald Olson Chris and Nicole Palmer

Claudia Peralta Joshua Pestaner Kelsey Poulson Brenda Pratt Lauren Puryear

David Eperthener Mitra Esfandiarei Melissa Flint

Over the past 35 years, the Annual Conference has become a yearly highlight of The Marfan Foundation and an important touch point for members of our community. Our goal is to raise $1 million to be used for Annual Conference Scholarships over the next 15+ years. Join us in ensuring access for years to come by making your gift today! Marfan.org/EnsureAccess

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MEDICAL Q&A You Asked, Our Help & Resource Center Answered

During the Annual Conference general medical session, participants were able to submit questions to the panel of experts. Here are a few of the questions with answers provided by Jan Lynch, MSN, RN, the Foundation’s on-staff nurse and director of the Help & Resource Center. With valve-sparing aortic surgery, do you need to take blood thinners? If you having to have valve-sparing aortic surgery, you do not need to take a blood-thinning medication (anticoagulant) after the surgery. In this procedure, the aortic valve is spared (left in place), and the dilated part of the aorta is removed and replaced with a Dacron tube. The aortic valve is sewn into the end of the tube. Because the valve is not replaced, the person is not at risk for forming clots and does not need to take an anticoagulant. Valve-sparing surgery is best performed by a surgeon who has had training and experience in performing it in people with Marfan syndrome and related connective tissue conditions. Valve-sparing surgery is not an option for everyone. Whether or not a person is a candidate depends on the aorta size, whether or not there is damage to the aortic valve, and the amount of leakage from the aortic valve. Is the Z-score or aortic root diameter more reliable marker for treatment/ surgery? Which one is more important? Doctors use the term “Z-score” to describe the size of an aorta. The Z-score is a number that determines how far the aorta’s size is from normal. Z-scores are used because the size of the aorta changes dramatically from childhood to adulthood, and the size measurement alone is not

t Jan Lynch , MSN, RN, director of our Help & Resource Center, answers more than 100 inquiries a week.

diagnosis cannot be determined through clinical evaluation. Single gene testing is the testing of one gene for a mutation, for example, the FBN-1 gene for Marfan syndrome. With multi-gene panel testing, individuals can learn about many inherited mutations at once. One vial of blood can shed light on a spectrum of possible mutations. When someone has features that are not clearly one condition, multi- gene panel testing may be informative in making a differential diagnosis and determining a specific course of medical treatment. A geneticist who is experienced and knowledgeable about Marfan syndrome and related connective tissue conditions reviews the family history and the clinical features of the individual to determine if genetic testing is necessary in the evaluation process. If genetic testing is needed, the decision to perform single gene testing (for example, FBN-1) or multi-gene panel testing, is based upon such factors as the individual’s distinguishing clinical features, family background, and future treatment consideration. When someone has features that are not clearly one condition, multi-gene panel testing may be informative in making a differential diagnosis.

Photo courtesy of Marfan staff

informative unless placed in relation to the individual’s age, as well as height, weight, and gender. Both aortic size measurement and Z-score are important. However, the Z-score is used more often for children because the aorta is still growing and it provides an indication of how large the aneurysm is compared to the body size. This is more valuable information than the actual aortic size, especially when deciding about the timing of preventative aortic surgery. Talk with your doctors about what size aorta is within normal limits for you. What is single gene testing compared to multi-gene panel testing? Some of the features of Marfan syndrome can be found in other related connective tissue conditions; therefore, genetic testing, whether single gene testing or multi-gene testing, may be helpful when a

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If you or your family member has a new diagnosis, is facing surgery, or is dealing with new health issues related to Marfan or a related condition, the Foundation’s Help & Resource Center can help. Jan Lynch, MSN, RN, director of the Help & Resource Center, works with our Professional Advisory Board, comprised of the country’s experts on Marfan and related conditions, to answer your medical questions. Susan Leshen, LCSW, handles your social work questions. You can submit your questions through our website (Marfan.org/secure/ask) and they will get back to you. You are not alone on this medical journey. We are here for you. MARK YOUR CALENDAR: REGIONAL SYMPOSIUMS Regional Symposiums are one-day events that, like the Annual Conference, feature medical presentations from experts on Marfan, vEDS, Loeys Dietz syndrome, and other genetic aortic conditions. They also provide an opportunity to meet other people from your area who are on a similar medical journey. Each symposium offers breakfast and a Creating Connections luncheon, as well as activities for your children. There is a modest fee for each symposium ($25 per person); children and teens are always free. GETTING YOUR QUESTIONS ANSWERED

WALK FOR VICTORY Connect with members of the Marfan and genetic aortic conditions community by joining a Walk for Victory in a city near you. New this year, be a virtual walker for the Walk of your choice, or join our Virtual Walk. Details at Marfan.org/Walk.

Here is the schedule:

• October 19, 2019: Minneapolis, MN • March 28, 2020: Lexington, KY • April 25, 2020: Ann Arbor, MI • May 9, 2020: Cincinnati, OH

• May 16: 2020: Denver, CO

For complete details and to register, please visit Marfan.org/symposiums. We hope to meet you during the year!

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Fall 2019

35 YEARS AND GROWING STRONGER TOGETHER

surgery and is doing great. Looking forward to learning!” said Diane. The Annual Conference has long been a gathering spot for friends from a range of genetic aortic conditions, but in 2019, we upped the focus, especially for Loeys Dietz and Vascular Ehlers-Danlos. “My husband and daughter were diagnosed with vEDS after my son passed away unexpectedly in 2015,” said Shelly Wooten of Arkansas. “I’m so excited about this Conference and being able to meet other families with vEDS and related conditions.” This year, for the first time, the general session medical presentations were broadcast worldwide by livestream and recorded for viewing

with friends was a top response among survey respondents. It’s often difficult to find people who “get it” in day-to-day life so the Conference, for many, is a place to fill that gap. “One of the hardest things is not knowing anyone else with our condition. I feel so alone, and while family is so supportive, they just don’t get it. My dad died when I was two, from aortic rupture, so I haven’t had anyone. That’s why I’m coming to the Conference finally,” said Ashley Wright of Michigan. Diane Burns and her daughter, Honor, both of Texas, came for Loeys Dietz syndrome education and connections. “We learned she has Loeys Dietz in 2019. She had heart

It’s been a couple months since our 35 th Annual Conference and it’s possible that the dust has finally settled in Houston. More than 600 community members, physicians, and volunteers descended upon “Space City” with much anticipation. The reasons for attendance were varied according to post-Conference surveys, but most came for four key reasons: to connect with knowledgeable doctors, learn more about living with a genetic aortic condition, connect with others who are also affected, and learn how to support a friend or loved one who lives with Marfan, vEDS, Loeys Dietz, or another genetic aortic condition. As usual, finding and reconnecting

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FROM THE CHILDREN’S AND TEEN PROGRAMS We had 78 children and 65 teens in the special conference programs designed just for them. Here is some of what they had to say: “The breakfast with doctors helped me feel comfortable reaching out to more doctors.”

loved “meeting the best people who are now life-long friends.” One post- Conference survey respondent said that they could never have “talked to so many specialists, easily, and in one place, anywhere else.” For Julie Martinez, of Texas, “the best part was feeling part of a community and having my son realize he is not and won’t ever be alone in this journey.” As we wrapped up the 35 th Annual Conference, we couldn’t help but pause and reflect on all the friendships, learning, fun, and support that occurred in our little corner of Houston that weekend. Mandy Shaw, of Texas, summed it up best. She said, “The sense of community and family we found over a long weekend being surrounded by people who just get it was undeniable. Not to mention, the invaluable sessions of information. I’m overflowing with happiness and relief right now.”

at a future date. This gave people all over the globe an opportunity to hear critical medical information from experts on these conditions. After 83 Health Fair appointments, 98 workshops, and one fantastic comedy show, it was safe to say that the goals of education and connection were met and exceeded. Nearly all of post-Conference survey respondents said their experience left them satisfied or highly satisfied. From support groups and education sessions, to social activities and parties, so much was gained in such a short time. Heading home, Vaughnie Yorke of Ontario, Canada, shared that she

“My two teens look forward to this every year!”

“I liked how people talk to each oth- er and are friendly.”

“I liked learning about how to tell others about my condition.”

DOWNLOAD AND WATCH the 2019 Annual Conference General Session speakers at: Marfan.org/generalsession

“This was our first year with children attending. The leaders were exceptional with our son and we look forward to next year!”

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Every year at the Annual Conference, we reocognize the volunteers who carry out our mission. The Foundation celebrated three Houston-based doctors with the Leader of Distinction award, for their commitment to the science and education that ad- vances care for our community: Dr. Shaine Morris of Texas Children’s Hospital, Dr. Dianna Milewicz of University of Texas Medical School at Houston, and Dr. Joseph Coselli of Baylor College of Medicine and St. Luke’s Episcopal Hospital. Four recipients whose efforts truly get to the heart of the work we all do for our community were recognized with a Heart of the Matter Award. The recipients were Alan Stoltz , Dr. Irina Volguina , Rod Gray , and Gretchen MacCarrick, MS, CGC . Aven McBride was given the Community Impact Award, for his compassionate support of the Foundation’s efforts, and the Priscilla Ciccariello Award was given to Cathy Bowen for her outstanding service to our community members with vEDS. Patrticia McCabe was honored with the Cheryll Gasner Spirit of Service Award for her significant contributions to our mission with both spirit and passion. Dr. Juan Bowen is the 2019 Antoine Marfan Award recipient for his tireless and compassionate work as a physician and advocate for the Marfan and genetic aortic conditions community. So much of our mission is accomplished by the youth and young adults in our community and three outstanding individuals were recognized for their volunteerism. Brooks Wofford was recognized with the Young Adult Community Award, Cameron Allen , the 2019 Rising Star Award, and Callie Efurd , the Kid with a Heart Award. CONGRATULATIONS p (Clockwise from left) Volunteers from around the country were recognized for their efforts in education, support, and fundraising. Aven McBride, of Houston, who received the Community Impact Award from Hunter Beckholt; Board member Caryn Kauffman presented the Cheryll Gasner Spirit of Service Award to Patricia McCabe, of Washington, DC; Owen Gray presented the Kid with a Heart Award to Callie Efurd, of Houston; Dr. Heidi Connolly, chair of the Professional Advisory Board, presented the Antoine Marfan Award to Dr. Juan Bowen, Mayo Clinic.

Others honored for their contributions in the areas of advocacy, education, fundraising, and volunteerism:

Andrea and Donny Rogers Juliana Sallum Mandy Shaw Dee and Lowell Stephens Matthew Thomas

Gary Moultrup Christy Nath Liam Nelson Barb Neustadt Carole Nowak Sunny Pellone Dawn Pulliam Allison Pullins

Katelyn and Fred Baker Grace Barnhardt Hunter Beckholt Katherine Doehring Kari Dostalik Heather and David Earnhart Bobby Elliott Michelle Gaddie Jeanne Heller-George

Chris Heaney Susan Holderer Anan Jeftenic Damari and Lanieka Jensen Ashley Jones The Kipnis Family Dawn Knowles Sara Koh Brian Kryger and Family Shana Kusin Tony Laughton Li LI

Laura Torode Denzel Wilson Katie Wright

Jennifer Reisinger Joanna Robinson Jon Rodis

Skyler Glassford Jeisha Harrison Dr. Michael Healy

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VOLUNTEERS FOR VICTORY – THAT’S YOU!

As a team member, you will be able to hear what other members are doing, get new ideas, and help build connected and vibrant communities. Experienced volunteers, along with staff partners, will support you, so you are never alone. Please visit www.marfan.org/ volunteer to learn more about the teams and see some of the exciting programs our volunteers are already doing around the country. To sign up for a team or get more information, please contact Suśan Sobers, director of volunteer engagement, at ssobers@marfan.org or at 516-883-8712, ext. 116. Heather, who is also serving as the Chair of the Volunteers for Victory pro- gram, added “For me, victory includes an active and supportive Marfan and related conditions community that my family can continue to thrive in. What is your victory? I’m a proud Volunteer for Victory Will you join me? ” .

The New Volunteers for Victory program is comprised of six teams, and you can join as many teams as you wish. Join the movement and see how you can make a huge difference in your community. • Social Media Awareness – let your online posts do the talking • Writing Group – are you a great writer – share your story and perspective • Legislative Ambassadors – tell your representatives your story – no one knows it better than you • Mentor Team – be a support system for someone else • School Nurse Champions – they are on the front line – let’s give them the tools they need • Community Action – be your community’s superhero – make a difference through awareness and fundraising of Asa Gladstein, whose organizat Squad Driven, brings together peo who have a passion for high-end c He decided to raise money for The Marfan Foundation this year becau his close friend, Dario Valli, has Ma “It was important for us to supp The Marfan Foundation because of Dario and it seemed like a great organization to partner with and ra awareness for,” said Asa. “After the first phone call, we knew a great fit.” The Foundation is so grateful to Asa, i a

Do you know who can volunteer for the Foundation? Anyone. Yep, especially you! Do you know how much time it takes? Or what special skills you might need? Whatever time and talents you have can be put to work helping build a better world for people living with Marfan, Loeys Dietz, Vascular Ehlers- Danlos, and other genetic aortic conditions. Whether you are affected directly or indirectly, there are all kinds of ways you can get involved. Heather Bergstrom, of Minnesota, member of the Foundation Board of Directors said, “As a mom of two children and a wife to a husband all living with Marfan syndrome, I wanted to do everything in my power to ensure they live a full and healthy life. As a result, I became a passionate Foundation volunteer.” And we know there are lots of members of our community who feel the same. EAST COAST RUN On July 19-20, the 2019 East Coast Run brought together 35 amazing cars, driven by 35 unique and respectable drivers, for a weekend of adventurous driving and events from Boston to Philadelphia to Richmond. For the first time, The Marfan Foundation was chosen as the beneficiary. Thanks to the generosity of the drivers, nearly $20,000 was raised for the Foundation. The East Coast Run is the brainchild

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the future!

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The Foundation is pleased to announce the addition of three esteemed physicians to our Professional Advisory Board. Dr. Shaine Morris, Dr. Sherene Shalhub, and Dr. Rachel Kuchtey. Dr. Morris is a pediatric cardiologist at Texas Children’s Hospital and co-director of the hospital’s Cardiovascular Genetics Clinic. Dr. Morris’ research focuses primarily on improving outcomes for children with Marfan syndrome and related disorders. She is active with The Marfan Foundation, participating in our Houston Walk for Victory every year and, most recently, co-hosting the 2019 Annual Conference. Dr. Shalhub is an assistant professor in the Division of Vascular Surgery at the University of Washington. She is also the director of its Multidisciplinary Vascular Genetics Clinic. Dr. Shalhub is active with the vEDS community. She most recently gave a webinar on vEDS for The Marfan Foundation and led workshops at our 2019 Annual PAB NEWS

p Members of The Marfan Foundation’s Professional Advisory Board at the 2019 Annual Conference.

Conference. Dr. Kuchtey is an associate professor in the Department of Ophthalmology & Visual Sciences at Vanderbilt University Medical Center. A past recipient of a Marfan Foundation research grant, Dr. Kuchtey also served on the organizing committee for the 2018 International Marfan Symposium. Recent PAB Accomplishments Paul Sponseller , MD , Johns Hopkins , is the new president of the Scoliosis Research Society. Leonard Girardi , MD , NewYork-Presbyterian Hospital/ Weill Cornell Medicine , was recently appointed to the Board of Directors for the American Association for Thoracic Surgery. Hal Dietz , MD , Johns Hopkins , received the 2019 Mentorship Award from the American Society of Human Genetics. The Foundation congratulates these PAB members on their recent accomplishments. We are honored to have such an esteemed group of medical experts who are will- ing to share their time and expertise with our community.

See if your experience can add to research findings by participating in a research study. View current studies seeking participants at: https://www.marfan.org/current-studies

Dr. Shaine Morris Dr. Sherene Shalhub Dr. Rachel Kuchtey

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WE REMEMBER AND HONOR

We are grateful to our members and friends who have made contributions in memory of, or in honor of, the following individuals between April 6, 2019, and August 31, 2019. These donations are fully appreciated and support our programs and services that create a brighter future for all those living with Marfan syndrome and related conditions. Donations to Walk for Victory are not included.

Twyla Davis Kelsey Dresser Mark Edwards Anna Ellis Michael Enbar Peter Ferluga Helga Freeman Sarka Friedrichs Bryan Funk Lucia Gallardo Matthew Garcia Julian Gorden Michael Gottstein Barbara Grainger Beverlee Guerrucci Sara Hansen Michael Hansen

Rebecca Shick Carolyn Da Silva Ann Reynolds Smith Larry Smith Zoe Sommers

Josh Souza Holly Spilles

Johnny L Spinks David Sponseller Janet Staneck Frances Stauber Jean Stetter Thomas and Patrice Stewart Ella Stoker Kelly Stout Caroline Stromich Mollyann Tabachnikov Paula Terrey Elizabeth Thomas Jodie Thomas Joan Thompson Deb Trebesch Joyce Tull Kenneth and Lois Tyznik Mary Jo Uhlman Erika Ulcar

Donations In Honor Of Peter Abare Shirley Arnold Rosemary Barker Maureen Barry Craig Basson Cathy E Battle Jane Berkeley Julie Boland Christine Booth Suzanne Bourgeois Jane and Ryan Brandt Alan Braverman

Linda McKenzie James Mcnamara Jocelyn Olds-McSpadden Marje Merrill Joanne Milazzo Jacqueline Milgrom Jacob Miller Christine Misterka Shera and Zoeb Mogri Erin Moran Dorothy Morgan Greg Murphy Kris Murphy Purisima Nasol Frank and Sharon Nasutovicz Kristen Neary David B. Nelson Erik and Ingrid Nilsson Dominga Noe David Norris Sherry O’Trimble Edith Oguynn Robert Olander Nancy Olson Jennifer Osowski Paul Palmer

Anne Garrett Pam Ginther Stacy Gordon Cindy Gossett Julia Graham Alan and Kathleen Grainger Sandra Gray Jimmy Hall Marilyn Hardesty Meredith Hardington Herbert and Carol Harpster Victor Harris

Saul Heller Jim Hinds Ross Hooker Denny Innerst Sarah Jones Michael Jordan William Joynt Teresa Kerr Carmela Kolman Margaret Mccabe Kristl Julie Kurnitz Sara Lacy Polly Ladd Alexa Lawrence Milan Lazorcik John Lusschen Pat Mannion Norman Martin George Maurer Susan McLaughlin David Moore Patricia Moran Viola Moss Robbie Mudroch Claire Murphy Kelly Murphy Fred Murray Matthew Nasutovicz Patricia Nicolosi Richard Patka Christopher Paulsen David Schettler Marjorie Sitter Barbara Smith Anthony Smith Stephen Smith Mary Sponseller Casey Sprouse Josephine Stamps Bridget Stewart Greyson Templeton Carol Thomas Collin Trebesch Jennifer Volpe Michael Wallace Michael Walter Valancia Williams David Willson Matthew Yeager Frank Pompa Travis Rabbit Edwin Ramey Sarai Reece Julie Roos

Geraldine Hauer Tammy Hedrick Seth and Laura Heller

Robin Broady Erin Brotchner James Brown Ronald B. Brumley Erik Bruner

Kayla Hester Kelly Hickey

Sharon Vaeth Maria Vowles Renee Wallace Jennifer Walter Parrish Warren Sondra Waugh Nancy Weiss Elizabeth Weithman Kathleen Wells Marie Wesselhoft Steven Wesselhoft Myra Whatley Christine Whited

Nicole Hillemeyer Kathryn Hillsheim

Marijo Bunbury Dorothy Burke Paul and Dorothy Cayo Carol Chandross

David Hirschl Vicki Hoelting Kate Holt Wade and Patricia Hooker Mary Hossler Martha Huge C. A. Hutton Bonny Jaswal Theresa Jennings Danny Johnson Steven and Sandra Johnson Jane Johnston Gary Jones Allie Diaz-Jordan Thomas and Joanne Jordan Cynthia San julian Steven Jureller Laura Kadzik Kristine Karlsten Leonard and Beth Kashner Karen Katanick Ann Kenna Susan Kerschner Cathy Ketterer Kathryn Klyczek Laurie Kroepel Rosemary Laird Marie and Denio Leone Megan Lewis Linda and Hamilton Lewis Kelly Loeb Larry and Susan Lonas Amy Lumsden

Daniel Chavez Beverly Clark Jane Cleary

Sylvia Connor Karen Conroy Jeannette Coppess Christopher Cox Charlotte Crandall

Robert Palumbo Stephen Paulsen Beth Pearson Thomas Peate Sarah Peek Randall Perez Ryan Perry

Hazel Williams Julie J Williams Katherine Willson Joseph Wolf Susan and Bruce Wright

Debbie Crow Brielle Crowe

JB Davis Teri Dean Emily DePaul Carrie Dippolito Jennifer and Joseph Dixon Mary Dorado

Maxine Yeager Michael Young

Patricia Phillips Parker Porfilio Ollie and Karen Powell Josie Prive Norman and Noreen Prive Carol Pruitt

Donations In Memory Of Grace Johnson Ackworth Carol, Adrian, and Elias Adame Barbara Bales Brian Barker David Barry Marsha M. Goldstein Basson

Patricia Downs Ann Dreshner John Duke Deborah Echko Marlene Eickenhorst Shira Enbar Karen Engel Janet Epstein Patricia Erickson Rose Ernst Maria Estrada Shirley Falkowski Patrice Fecteau Bridgett Feehan Geri Fennell Kriss Ferluga Vanessa Flannery Linda Fleming

Diane Purcell Michael Quon Stuart Rachlin Joyce Ramey Sandra Reece Diane P. Reed Terri Reiser

Charles Benedict Rebecca Bianco George Bourgeois Michael Brandt Marissa Broady Bonnie Brown

Catherine Reppenhagen Vincent and Josephine Riccio Erica Rice Blanche and Miguel Rico Annette Van Rijsbergen John Rizzo Arlene Roberts Peter and Elisabeth Roos Samuel Rosenberg Elayne Rusnak Olga Borodin Russell Patricia Sandoval Sara Schoeck Jigar Shah Daniel Shapiro

Yazzie Brown Denny Brown James Brown Jim Brown Jennifer Buffone Paul Burke Jerry and George Butler Andie Carpenter

Keith Lutsch Karry Mader Danielle Mallow Patti Marable Steven and Amelia Marpman Melissa Martin Donna Martinez Patricia Matous Melvine McCall Amy McCormick

D.R. Fluke Mary Frey Walter and Leona Friedrichs Annette Friesen Cindy Froslie John Funk Monica Gallardo

Sarah Cayo Susan Chov Alex Connor Carol Crews

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