Connect Issues Fall 2021
HEARTWORKS GALA IN HOUSTON
VICTORY IS A FRESH START
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 and vascular 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.
If the Covid-19 pandemic has highlighted one thing it’s the importance of connection. Though we’ve had to learn new skills and try new ways of connecting, community is what’s pulled so many of us through this challenging time. Our community of people with Marfan, Loeys-Dietz, and VEDS has been here for one another and, hopefully, we will be able to connect again safely in the coming months. In July, The Marfan Foundation hosted our first
Virtual Annual Conference. We were joined by 1,800 participants from 60 countries around the world for a weekend of medical presentations, discussions, and opportunities to connect. The goal was simple: reboot connections with professionals, researchers, and community members after a year of uncertainty and, for many, isolation. Many thanks and to our friends and sponsors who helped make this event a success: Children’s Hospital of Philadelphia, Aytu Bio-Pharma, and Terumo Aortic. One of the most inspiring parts of the Virtual Conference was seeing the growth of connections within the Marfan, LDS, VEDS, and related conditions communities. It was great to see the sharing and connections both within and between the different condition groups and our incredible medical professionals who support them. Connecting people and resources is at the heart of our mission and the core of what we do every day. As we begin the first months of our 2021-2022 fiscal year, we have high expectations for how this vital theme of building connections will serve our entire community. The Virtual Annual Conference served as a launch point for the year’s Personal Perspective and Virtual Medical Education webinar series. Sessions like Growing Older with a Connective Tissue Condition and Help for the Newly Diagnosed (separate sessions for Marfan, LDS, and VEDS), and nearly all other sessions from the virtual conference, are available online for access anytime and anywhere. This Fall, we'll have many more great discussions from medical professionals and community members. We also saw many connections made through support groups during the Virtual Annual Conference. These too continue throughout the year, with multiple ways to connect across the Marfan, Loeys-Dietz, and VEDS communities. Many things are still uncertain this year, but we remain steadfast in our commitment to our community, our medical professionals, and researchers. Together we are staying strong and continuing to support the needs of our incredible community.
Learn more and get involved at Marfan.org.
CONNECTIVE ISSUES Fall 2021 VOLUME 40 | NUMBER 3 Connective Issues is the newsletter of The Marfan Foundation. It is published three times per year.
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.
Michael L. Weamer President & CEO
ON THE COVER: Riley O’Brien is pictured on the cover with his pediatric pulmonologist, Dr. Maureen Josephson, Medical Director of the Lung and Heart/Lung Transplant Programs at Children's Hospital of Philadelphia (CHOP). Riley, age 13, underwent a heart and lung transplant when he was five years old. Read about Riley beating the odds every day living with heterotaxy (a rare condition affecting the location of organs in the body) and a recent Loeys-Dietz diagnosis on page 12.
THE MARFAN FOUNDATION 22 MANHASSET AVENUE PORT WASHINGTON, NY 11050 516-883-8712 | 800-8-MARFAN MARFAN.ORG
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Houston. “If Marfan was going to be something we were going to have in our lives, we wanted to meet other people who were living with it. Now, we want to help other people learn and connect.” Life’s made up of moments—and every day is an opportunity to make more. We walk to raise funds for life-saving and life-enhancing programs. With each step, you’ll create more meaningful moments. We hope to see you at one of our Walks for Victory in the coming year. “While ribbons tied together can symbolize a bond, the cutting of a ribbon signifies a fresh start. A ribbon can be stretched across an entryway to signify that what is behind the ribbon is waiting to be presented to the world.”
It’s a magical feeling…standing under the red and purple balloons, surrounded by a supportive community, getting ready to cut the ribbon and charge forward together. After two years since a full season of in-person events, we are thrilled to bring our community together again for a fresh start at our 2021-2022 Walks for Victory. We hope you will join our Walk program which brings the Marfan, Loeys-Dietz (LDS), Vascular Ehlers-Danlos (VEDS), and related conditions community together. Each Walk is a non-athletic, family-oriented event that focuses on fundraising and fun. The support of Walk participants and donors helps to ensure a better life for everyone with genetic aortic and vascular conditions. The first three Walks of the year are in Cleveland (September 19), St. Louis (October 3), and Orlando (December 11). Then, we have 17 more Walks for Victory around the US from February through June, 2022. And a virtual Global Walk on May 7, 2022. Visit Marfan.org/Walk to find the Walk nearest to you. “I loved being with the group, just walking and feeling the sense of connection with everyone there,” said Jessica Thomas, who attended the 2019 Indiana Walk for Victory. “We shared stories and laughed and cried together. It was an amazing day.” “We first got involved with the Walk for Victory because of the unknown,” said Justin Efurd, of
p PHOTOS ABOVE: Pre-pandemic ribbon-cutting at the St. Louis and Southern California Walk for Victory.
Our Virtual Annual Conference, held in July 2021, featured many sessions on medical and quality of life topics that are always of interest to our Marfan, LDS, and VEDS community. We are so grateful to the trusted medical experts on our Professional Advisory Board who shared their time and expertise to bring you the latest medical information and research updates. This year, we tapped our Volunteer Leadership Committee, chaired by Board member Heather Bergstrom, to provide guidance on conference content, especially the nonmedical topics that help people in our community live longer and better. Their input was critical to the creation of new innovative programming, including many sessions never offered before. Here’s an overview of a few of the conference sessions.
RELATIONSHIPS AND DATING WITH MARFAN, VEDS, LDS, OR A RELATED CONDITION “Dating is a human issue. Bringing in a chronic illness is another part of an identity that has to be navigated,” said Dominga Noe, a Foundation staffer who has Marfan syndrome. Noe, along with panelists Ben and Lindsey Weisman, Brandon Crawford, Isabella Marin, Tom Stone, and Anne Acardo, shared dating stories and experiences as a way to help others. The panelists all agreed that simply telling the person you are dating about the diagnosis makes it more comfortable. Then there is an awareness and no need to hide it. Open communication was emphasized many times on the panel. Still, they admitted that talking to a potential partner about what you can and can’t do can be difficult, but it is important to do so that you can find ways to have fun together in ways that are safe for both parties. “We all strive for ways to relate to each other,” said Dominga, “Especially in a relationship.”
PREVENTING CAREGIVER BURNOUT Caregivers are not typically prepared to deal with the impact of long-term care of a family member with a chronic, progressive condition. Chronic caregiving stress creates an emotional toll that can be devastating. “The rare disease community suffers from CTSD, not PTSD,” said Cristol Barrett O’Loughlin, Founder and CEO of ANGEL AID, an organization that offers relief to caregivers. “It’s chronic traumatic stress, not post-traumatic stress.” Cristol addressed the four definitions of support: information support, which includes information about the condition; tangible support, which includes child-care and help with daily living tasks; emotional support, which involves feeling validated and understood by others; and companionship support, which involves engaging in activities with others resulting in a sense of belonging. The presentation focused on the latter two areas of support – emotional and companionship – because these are too often neglected. To address
these needs, Cristol spoke about the value of connection, story- telling, and self-care in avoiding caregiver burnout, as well as how taking some small intentional actions on a daily basis can improve your well-being. For example, in one self-care exercise, she asked people to use their five senses to reframe daily rituals, to focus micro-moments of each day centered around touch, taste, sound, smell, and sight. DEMYSTIFYING THE HOSPITAL For many, entering the hospital is like walking into a twilight zone. There are lights, machines, and so many medical people, including doctors, nurses, physician assistants, and administration staff. While you know they are all there to help you, it can be scary when you or a loved one are facing surgery. In this session, Rita Weise, MSN, of Hoag Hospital, and Rebecca Campbell, PA-C, of John Hopkins, shared insights into the hospital to help people feel more at ease. They were joined by Barbara Lerman, a Marfan mom from New York, who has navigated many different hospitals for various surgeries for her daughter, Sydney. Rita explained how to be more prepared for the hospital experience, starting with knowing the check-in process, and she went over hospital terminology. As she said, understanding the environment can help take away the fear of the unknown. Rebecca explained who all the people are in the operating room and what their role is – from the surgeon who performs the surgery, to the fellows, residents, physician assistants, and nurse practitioners who assist the surgeon, to the surgical technician, radiology technician, anesthesiologist, certified registered nurse anesthetist, and circulating nurse. She also shared what she wishes people knew before surgery, such as: how much pain there is after surgery; that physical therapy is hard; that’s it’s important to ask for assistance from family and friends; how to improve recovery time; and that it’s normal not to feel completely yourself after leaving the hospital. Barbara offered a lot of practical advice, based on her personal experience. She encouraged attendees to question everything and be on top of all the information about their loved one to make sure it’s all correct. “If something sounds strange to you, question it,” she said. “If the nurse doesn’t answer, ring again. If the pain team is not responding to a page, have them paged again and again. If you are waiting for meds to be ordered or a test to be done and it’s not getting done, stay on top of it, keep bugging them. And if you think someone is hurting your child, like a tech who can’t find a vein for an IV, request a new tech or ask for the charge nurse. Do whatever it takes to keep your child calm and comfortable whenever possible.” “And don’t be afraid to advocate for yourself or your child no matter how annoying you think you are being.”
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AS HEARD ON SOCIAL MEDIA
What is one thing you wish people knew about Loeys-Dietz syndrome ? • We are not hypochondriacs, we are not lazy. • That just because you look ok, it doesn’t mean that every part of your body doesn’t cause huge pain and mobility issues. • That it affects so much of your health! Got diagnosed last year and it explains like three other seemingly unrelated problems I’ve had! • There's a physical side with aches, pains, weird bowel problems, constant fatigue, scanning, heart condition…There’s also a mental side, a loss of self and/or purpose, a constant climb up a mountain, a battle that makes your head question your own thoughts, anxiety and depression. • That I wish I had an easy answer/explanation. Every time I'm asked about a health issue I feel like it takes several minutes to answer in a real way. There are always follow-up questions and I may even have to draw a picture. What is one thing you wish people knew about VEDS ? • I wish people knew that by limiting some of our children's activities, we aren't being unfair parents. We are just trying to follow the safety measures. • I wish people took the severity more seriously. • I wish people understood that not enough is known about this disease/diagnosis and would spread the word. • That VEDS is not just flexibility, but some- thing than can kill me or my children. It’s not something to be brushed off. It's serious, and I want to be taken seriously. • That even if you can’t be cured, it’s worth being diagnosed. • That it is very different than other forms of Ehlers-Danlos. • That it is dangerous and that our extended families need support because they worry. • It is the cause of many mysterious ailments of folks that have it!
What is one thing you wish people knew about Marfan syndrome ? • That it is hereditary and please, for goodness sake, get yourself checked if it runs in your family. • Chronic pain and why I have so many doctor and ER visits. • That there is a medical reason for why I'm this tall! • There’s more to living with Marfan syndrome than seeing a cardiologist and an ophthalmologist. Those are the two most catastrophic areas of concern, but quality of life is also impacted by connective tissue disorders. • There's no "look" to Marfan. We don't all look the same. • You can still live and enjoy life! You just have to be mindful of your own limitations and not overdo it. Take each day as it comes and make the most of it. Don’t let it define who you are inside. • It will not spread to other people. • That there is hope! It is not a death sentence. • How debilitating it really is, especially when you look "normal.” • That they are high risk for aneurysm. • That the hour medical lecture does not compare with a lifetime of personal experience!
THANK YOU SPONSORS!
VEDS PRESENTING SPONSOR
RESEARCH GRANT PROGRAM UPDATED TO FACILITATE TRANSFORMATIONAL SCIENCE
The Marfan Foundation, which has funded 158 research grants and initiatives since 1989, is proud to announce it has updated its research grant program to have a more significant impact on scientific advances to improve the lives of people with Marfan, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions. “Research funding from the Foundation has provided critical seed money to established scientists and has successfully enhanced the pipeline of young researchers who are interested in genetic aortic and vascular conditions,” said Craig Basson, MD, Chair of the Foundation’s Scientific Advisory Board. “We are now at a crucial juncture where we can more strategically focus on transformational science and aim for cures for these conditions. The new research grants are designed to promote longer, multi-disciplinary, multi-institutional collaborative grants that will help us reach these goals.” NEW AWARD IS THE FOUNDATION’S LARGEST The highlight of the updated Research Grant Program is the establishment of the Everest Award , a single grant of $200,000 per year for four years (a total of $800,000), based on a yearly milestone review. This large, multi-institutional transformational grant is designed to “reach the summit” on a critical path to a breakthrough in basic or translational science that has direct relevance to human health. It must include an institutionally funded graduate student or fellow. The Foundation also encourages the engagement of multi-disciplinary investigators or a pharmaceutical company. The other grants the Foundation offers are: • Innovators Award , a two-year $100,000 grant ($50,000 per year) intended for faculty members to explore an innovative concept in translational science that has applicability to improving human health.
p Dr. Bettina Willie, McGill University, a previous Foundation research grant recipient.
• Career Development Award , a two-year $100,000 grant ($50,000 per year) designed to support investigators early in their career to derive preliminary data in a key concept area that has high potential to lead to extended funding. • Victor McKusick Fellowship , established in 2006, a $150,000 award for an MD and $100,000 for a PhD over two years to support postdoctoral fellows embarking on a scientific career in biomedical research related to Marfan syndrome or any of the genetic aortic or vascular conditions that are within the Foundation’s scope of interest. More details on this program and information about past research recipients are available on our website. Inquiries from researchers should be direct- ed to Josephine Grima, PhD, Chief Science Officer, The Marfan Foundation, at firstname.lastname@example.org.
Hope IN R E SEARCH The VEDS Movement is celebrating its second year as a division of The Marfan Foundation. We are thrilled to be celebrating two clinical trials that were announced this year. To have two clinical trials in the works for VEDS is an incredible opportunity to learn more about this condition; they provide hope that one or both may reveal a treatment to prevent life- threatening arterial ruptures and dissections for people with VEDS. THE CLINICAL TRIALS Aytu BioPharama is planning a clinical trial, called the PREVent trial, to test the effectiveness of an investigational medication called enzastaurin (AR101) for its inhibition of the protein kinase C (PKC)
p Bridgette Howe, her husband Travis Howe, and their dog, Stella.
pathway. The PKC pathway has been implicated in the pathogenesis of VEDS in mouse models. Enzastuarin has already been studied in more than 40 human trials across a range of cancers including glioblastoma. This trial will investigate the ability of enzastaurin to reduce severe complications of VEDS, such as arterial ruptures and dissections. The trial is anticipated to enroll patients globally. Acer Therapeutics is also planning a clinical trial, called the DiSCoVer trial, to test the effectiveness of Edsivo (celiprolol) in reducing events in people with VEDS. This trial is anticipated to enroll patients from the US only. Celiprolol is a beta blocker currently used in some countries as the primary treatment for people with VEDS, but it is not approved by the FDA in the US. This clinical trial hopes to reveal whether the medication is definitively effective in reducing events for people with VEDS, and if so, the company will pursue FDA approval. COMMUNITY PERSPECTIVES These clinical trials inspire hope in our community for the future. “Thinking about a clinical trial for a drug for VEDS is just amazing. The help that it would bring to families and friends, the hope... I think the hope is what's more important. If we have hope for a new medicine, then we have hope for tomorrow,” said Annie Barlow. “We have hope for a better life. We have hope for an easier life, with fewer doctor appointments and fewer panic attacks over what could happen if I do this or that. So I'm just so excited for what this could bring for the VEDS community.”
p Annie Barlow
LIVING WELL WITHIN THE RULES
Bridgette Howe is also hopeful. “I know that VEDS will be a part of each and every day of my life from here on out, but at the same time, I'm really hopeful with the progress that I see being made and how far we've come as a VEDS community,” she said. “Eleven years ago, when I was diagnosed, I felt so alone, that this was not on anyone's radar. And I look and see how much information is out there now and I'm just really hopeful that, in my lifetime, we will have a cure, a medication, something that will give us our power back.” “I am forty two years into my diagnosis,” said Kristi Posival. “During that time I have experienced what felt like sprinting across quicksand, walking across hot coals, some of the most intense pain over and over again. So many skin tears,
Over the years, Rebecca Matte of Delray Beach, Florida, has been told she isn’t typical of people with Loeys-Dietz. Some doctors told her she didn’t look the part. Others told her she had Marfan syndrome. “Typical or not, it doesn’t take away from my experi- ence of having Loeys-Dietz syndrome,” said Rebecca. From her own medical
needs, like being born with a cleft palate, to her father’s heart surgery and suspect- ed Marfan syndrome, connective tissue conditions were a part of Rebecca’s life from the beginning. After Rebecca's father passed away following heart surgery, many things changed. One major change was that, at age 13, Rebecca was given a Marfan syndrome diagnosis. She stopped playing basketball and took up piano instead. She learned the rules of what she could and couldn’t do to protect her health. “Even though I played by those rules,” she said, “I had my first aortic aneurysm and needed surgery in 2000.” In 2009, some of those rules changed again when Rebecca was re-diagnosed with Loeys-Dietz syndrome. Since she had already made many lifestyle changes as a teenager, the new diagnosis meant that regular MRIs had to go from pelvis to head, but, she said, the rest of the rules still applied. There have been more check-ups and more surgeries, more scary moments and more beautiful ones in the years since Rebecca’s diagnosis, all which are fairly normal for life with LDS. And whether she’s typical of people with LDS or not, Rebecca has been busy living a full life within the rules of her condition. “A few things I have learned is that while I might have physical limits, I still can experience the sweetness and beauty of life,” said Rebecca. “I have gone on rafting trips and long hikes; played lots of board games with my friends; and experienced as much as possible. It’s not about how fast it gets done but that I experience it. I am thankful that because of Loeys-Dietz syndrome, I have become an advocate for my body and my journey.” p “I have become an advocate for my body and my journey,” said Rebecca.
stitches, and busted veins, complemented by amazing highs: a non- stop search for the human spirit, travels around the globe, and marrying the love of my life. However, in all that time I never considered the possibility
p Kristi Posival
that a pill could somehow magically make my vascular system less fragile. The entire concept is mind blowing. Within weeks of the first drug trial announcement from Aytu BioPharma, Acer Therapeutics announced their trial. I guess when it rains it pours! I realize we are still a long way off from actually getting FDA approval and a brighter future for the younger generations with VEDS, but I am pretty excited!” The VEDS Movement will provide updates on both trials as more information is announced, and we will assist in enrollment efforts where necessary to ensure both trials have enough individuals enrolled to provide clear answers for our community. We are inspired by the hope this brings our community and are excited to assist in every way we can. You can sign up for updates from The VEDS Movement on our website, TheVEDSMovement.org .
CHICAGO FAMILY MAKES THEIR MARK WITH WINE AND CHOCOLATE
The past year required some re-imagination and that’s what we did – creating a new signature event, (Un)Corked, a virtual wine- tasting event that raised awareness and critical funds to support the Foundation’s programs and services. Each (Un)Corked event featured sommeliers from Napa Valley, who taught us about wines (with participants given an option to purchase the wines in advance), as well as a silent auction. The events were driven by our volunteers who shared their stories as they do at in-person events, creating a meaningful evening to both raise awareness and critical funds for the Foundation. And they were fun, as well. In Chicago, we upped the ante, creating (Un)Corked: The Chocolate Edition. James and Jessica Milburn, whose daughter Bailey has Marfan, chaired the inaugural event. “Jess has been researching ways to learn more and get involved since the first moment she thought Bailey might have Marfan,” said James. “Since that
p James and Jess Milburn with Bailey and their three younger daughters, Libby, Margo, and Dylan.
about the money raised. “Raising awareness is just as important as the financial gains of these events,” said James. “Allowing our connections and their connections to enjoy a fun evening while
time, we have made it point to try to participate in local and national events for the Foundation in order to help raise money and awareness of the condition.” Thanks to the incredible efforts of the (Un)Corked: The Chocolate Edition committee, the event far exceeded the fundraising goal, raising $100,000 for the Foundation. The Milburns played a central role, including sharing their story in a video that was shown during the evening. “Bailey was happy to have our whole family involved in the planning and video,” said James. “She is happy to know that her family is helping her and others facing similar health issues.”
learning more about Marfan and other connective tissue conditions will provide a larger impact and, therefore, stronger support of the Foundation in the future.” James and Jess are grateful for the support the Foundation pro- vides and are committed to creat- ing an even bigger in-person event in Chicago when it is safe to do so. “The Foundation leverages nationwide support to provide truly beneficial programs to the Marfan and related conditions community, including awareness, education, access to healthcare providers,
and, most importantly, general support and peer group structures for individuals and families,” said James. “This is so important to us and families like us so generating outside involvement, donations, and support means the world!”
Philanthropy has always been important to James and Jess. Since Bailey was diagnosed with Marfan, supporting the Foundation has risen to the top of their list of philanthropic priorities. And it’s not just
INTERNATIONAL OUTREACH MARFAN FACT SHEETS NOW AVA BLE IN FRENCH, GERMAN, AND ITALIAN ILA
The Marfan Foundation is expanding its resources to make them accessible to people who speak
an international audience, with registrants from more than 50 countries. In addition, its regular webinar series on medical and
languages other than English and Spanish. New fact sheets that address the diagnosis and treatment of Marfan syndrome are now available in French, German, and Italian. These cover the following aspects of the condition: diagnosis, basic facts, bones and joins, cardiac surgery, eyes, lungs, skin, teeth, family planning, and physical activity. All are available as a free
quality of life topics, established in 2018, has always attracted people from countries near and far.
ctor who knows about hat you can have Marfan rdless of the diagnosis, your doctor as he/she
MARFAN SYNDROME: THE BASIC FACTS
the body by doctors
ember who may
Marfan syndrome is a life-threatening genetic disorder of the body’s connective tissue. Knowing the signs of Marfan syndrome, getting a proper diagnosis, and receiving the necessary treatment can enable people with Marfan syndrome to live a long and full life.
Our community of experts estimates that nearly half of the people who have Marfan syndrome don’t know it.
are out of
Our community of experts estimates that nearly half of the people who have Marfan syndrome don’t know it. Without proper diagnosis and treatment, they are at high risk for an early sudden death. Marfan syndrome affects our connective tissue, which helps to hold the body’s cells and tissues together. It also regulates how our bodies grow. There are also several disorders related to Marfan syndrome that cause people to struggle with the same or similar physical problems, and anyone affected by these disorders also needs an early and accurate diagnosis.
What are the features of Marfan Syndrome?
Some features of Marfan syndrome are easier to see than others. These include:
• Long arms, legs, and fingers • Tall and thin body type • Curved spine • Sunken or protruding chest • Flexible joints
download from the Foundation’s website: Marfan.org/languages . The English fact sheets and Spanish fact sheets are available online as well. “The new fact sheets underscore the Foundation’s commitment to serving the global community of people with Marfan and other genetic aortic and vascular conditions,” said Timo Söderlund, a Board advisor to the Foundation who lives in Sweden and is a leader in aortic disease awareness worldwide. “By offering materials in French, German, and Italian, as well as in English and Spanish, the Foundation is providing critical resources for more people in Europe, as well as in countries on other continents where these languages may be spoken. This is a significant contribution to the well-being of this patient community.” Creating resources in multiple languages complements the extensive community outreach the Foundation has implemented internationally in the past year. The International E3 Summit, a virtual educational meeting held in August-September 2020, was the largest event in the Foundation’s history, attracting 3,000 people from 75 countries around the world. Medical presentations were given in seven languages so that people could learn from the experts in their native tongue. The Foundation’s 2021 Virtual Annual Conference similarly attracted Marfan.org
Submit questions to our Help & Resource Center: Marfan.org/Ask
SAVE THE DATE INTERNATIONAL EDUCATIONAL OPPORTUNITIES FOR OUR COMMUNITY The Marfan Foundation is planning two special opportunities for people around the world to learn about Marfan, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions. Save the date for: A virtual educational day featuring presentations on genetic aortic and vascular conditions in Spanish. INTERNATIONAL PATIENT MEETING Sunday, April 24, 2022, Paris What’s New in Genetic Aortic and Vascular Conditions. SPANISH LANGUAGE SUMMIT Saturday, January 22, 2022
Watch for more details on these two events in the coming months.
DOUBLE RARE Riley O'Brien of Magnolia, New Jersey, was born with a rare condition known as heterotaxy, which affects the position of the body’s organs during gestation. His parents were told he’d need a heart and lung transplant to live past five years of age. He was fortunate to receive the new organs one month before his fifth birthday at Children's Hospital of Philadelphia, where he still receives transplant care from Dr. Joseph Ros- sano, Chief of Pediatric Cardiology, and Dr. Maureen Josephson, Medical Director of the Lung and Heart/Lung Transplant Programs, and now from Dr. Stacey Drant and Dr. Staci Kallish for his Loeys-Dietz syndrome. The O’Brien family knows what it means to live with a rare condition with years of treatments and surgeries. This past year, Riley learned that he also carries the SMAD2 mutation, making him a double rare carrier of both heterotaxy and Loeys-Dietz syndrome markers. The LDS diagnosis has helped the family make sense of some of what Riley has experi- enced over the years. It has also highlighted what a fighter he is, having been through so much and living a happy life. “When you see Riley, see that there is hope. When it comes to these conditions, there are a lot of statistics that feel hopeless. But then here’s Riley, beating every statistic and every odd every day,” said Riley’s mom, Carol O’Brien. More of Riley’s story and links to his social media accounts (@Smile4Riley) are at LoeysDietz.org/Stories .
THE FOUNDATION ADDS CLOVER HEALTH EXECUTIVE AS BOARD ADVISOR
The Marfan Foundation is pleased to announce the addition of Andrew Toy, President and Chief Technology Officer of Clover Health, as an advi- sor to its Board of Directors. Toy, a Hong Kong-born technologist and entrepreneur who is now based in California, was diagnosed with Marfan syndrome at 17 years old, after losing his father to an aortic dissection. Several times a year for the past 25 years, Andrew has visited his doctor to manage his condition; these ongoing interactions have instilled in him a deep understand- ing of the shortcomings of the healthcare system and a desire to fix the industry’s toughest problems. Andrew’s first-hand experiences have influenced the way he leads Clover Health, a company focused on bringing high-quality, affordable healthcare to underserved populations across the country. Now he is bringing his experience, passion, and expertise to The Marfan Foundation. As an advisor to the Foundation’s Board of Directors, Andrew aims to provide support and education to the community and help drive forward
research to create a brighter future for people with Marfan syndrome and other genetic aortic and vascular conditions. “One of my first experiences with the U.S. health insurance industry was them trying to deny me coverage for my annual scans on account of Marfan being a pre-existing condition. Fortunately, I was able to overcome that, but it has shaped a lot of how I see the health system. That’s why I’m dedicating my life to helping those with complex care needs and other at-risk populations get better, more affordable healthcare.” said Andrew. “I’m excited to help raise awareness and promote research around the treatment of Marfan syndrome and related conditions, and look forward to collaborating with the foundation as a new board member.” “We are excited to have Andrew join our Board of Directors as an advisor,” said Michael Weamer, President and CEO of The Marfan Foundation. “He brings energy, commitment, personal knowledge and a key expertise in health care delivery to underserved populations to our policy deliberations.”
HOUSTON HAS HEART! The Foundation’s first-ever Heartworks Gala in Houston, a Mask-erade Ball held on June 26, was a resounding success, bringing together the medical community and Marfan, LDS, and VEDS community and raising $212,500 for our life-saving programs and services. SPECIAL THANKS
Gala honorees: The Foundation honored two outstanding members of our community -- Dr. Joseph Coselli, Vice-Chair of the Michael E. DeBakey Department of Surgery, Cullen Foundation Endowed Chair, and Professor and Chief of the Division of Cardiothoracic Surgery at Baylor College of Medicine, who is a long-time member of our Professional Advisory Board, and Aven McBride, principal of American Communication Construction, a major supporter of our Houston Walk for Victory every year as well as our Annual Conference.
GALA COMMITTEE • Joseph Coselli, MD, Baylor College of Medicine • Scott LeMaire, MD, Baylor College of Medicine • Dianna Milewicz, MD, PhD, UT Health • Shaine Morris, MD, Texas Children's Hospital • Alan P. Stolz, MEd • Irina Volguina, PhD, Baylor College of Medicine
CARNIVAL SPONSOR • Diaxamed, LLC • Medtronic Cardiac Surgery • Michael E. DeBakey Department of Surgery, • Baylor College of Medicine • Dr. Dianna Milewicz • Terumo Aortic • Texas Children’s Heart Center The Foundation is also grateful to Aven McBride for his gener- ous donation in honor of Hunter Beckholt and Greg Yakim for his generous donation in honor of Callie Efurd.
VENETIAN SPONSORS • Martha B. Bute Charitable Fund
GRAND MASK SPONSOR • Dr. Joseph Coselli and Mrs. Kelly Coselli
Melissa Wilson, health reporter for Fox 26 Houston, was our master of ceremonies and, subsequently, aired a segment on Marfan syndrome to generate more awareness locally.
Several members of our community celebrated with us, including Justin and Jamie Efurd (left), whose daughter has Marfan, and generous supporters Jan Zhang and Greg Yakim with CastleRock Communities.
Dr. Firas Mussa, Northwell Health (left), and Scott Rush, Terumo Aortic (right), were among the many who were on-hand to honor Dr. Coselli.
Dr. Dianna Milewicz, President George H.W. Bush Chair of Cardiovascular Medicine, Director of the Division of Medical Genetics and Vice-Chair of the Department of Internal Medicine at UT Health and a member of our Professional Advisory Board (second from left), was on-hand with colleagues from her lab (L-R) – Haley Dostalik, a research intern who has Marfan, Bella Marin, a research nurse who has VEDS, and Bella's friend, Vanessa Chavez.
Dr. Shaine Morris, Associate Professor at Baylor College of Medicine and pediatric cardiologist at Texas Children’s Hospital who is on our Professional Advisory Board (fourth from the right), brought her whole team from Texas Children’s Hospital to support the Foundation.
AWARDS & RECIPIENTS A round of applause and many thanks to the following volunteers who made special contributions to The Marfan Foundation and its divisions in the past year . Excellence in Scientific Advancement Award Craig Basson, MD, PhD ( 3 ) Endless Appreciation Award Kim Eagle, MD, FACC ( 1 ) Enid Neptune, MD Spotlight Award Finn Partners Heart of the Matter Award Scott & Kristen Griebel Loeys-Dietz Heart of Gold Award The Fulpius Family Teen with a Heart Award Grace Meyers ( 9 ) Kid with a Heart Award Becket Hotchkiss ( 8 ) Volunteer Appreciation Awards Marfan – Betcy Matarrita ( 7 ), Amy Kipnis, Christy Nath ( 5 ), The Bobbe Family, The Milburn Family Loeys-Dietz – Dawn Reiner, Gretchen MacCarrick, Linda Tigges, Beth Utz ( 6 ), Lauren Atherton ( 2 ) VEDS – Morgan Jozwiak, Dan Sperry, Ashley Rose Marisch ( 4 ), Rosemarie “Roe” Nania
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 1, 2021 and August 31, 2021. These donations are fully appreciated and support our programs and services that create a brighter future for all those living with Marfan, Loeys-Dietz, VEDS and related conditions. Donations to Walk for Victory are not included.
Brian Howell James Huxtable Lester Jarquin Mo Jurgens Will K Kayla Kay
Nicole Reiner James Richardson Peetvader Rini Tyler Roberts Frank Ross Brooke Roth Gabrielle Ruelos Noa Russell Mazzy Sass Caden Schaeffer Evan Smolen Avery Somers Daniel Louis Speck Eleanor Stahura Lindsey Swancer Robert Swarts Peggy Tassett Beatrice Taylor Samantha Thomas Kayley Tigges Carter Trahan Margaret Tucker Halle Tunheim Monique Voorn Jeff Weill Brayden Wesley Connor Wilson Andrea Witte Sam Woodhouse Katie Wright Scott Schober Britt Scholten
John Cardillo Sarah Cayo Aileen Cheng Matthew Classen Nancy Conger Robert and Dominga Cooper Anissa Cottongim Daniel Cross Blaise Dafoe Robert Gene Davis John DeBlecourt Lynn Dybul Anna Ellis Dane Everhart Ben Faust Ida Fee William Feinstein Tampara Ferguson Harriet Forlizzi Lita Faye Forster Adam Frank Georgie Gagne Bruce Gold Anna Gould Ernest Albert Gueniot Gerry Guimond John Hall Orion Holder Max Hommel Kathleen Hooker Luke Hosking Mark House Benjamin Huckaby Alice Hwang Flo Hyman Shirley Mc Intosh Michael Ireton Amanda Lee Irvin Mandy Irvin Christopher Jedda Michael Jordan Richard Mitchell, Jr. Francis Wegmann, Jr. Brian Dean Hamilton Michael & Sara Hansen Connor Harris Lorenzo Antonio Hernandez- Fuentes Norman Hershkowitz
Efrat Lifshitz-Schwartz Rudolph Luna Michael Lytton Richard and David Makanoff Allyson Jane Marisch
Donations In Honor Of Marie Abbruzzese Jennifer Alden Cameron Allen Reegan Bennett Armstrong Tammy Asplund Lauren Atherton Nora Baker Caroline Bange Ivana Batstra Ari Bayer Taurin Bear Ricardo Belchior Abrie & Evan Berkowitz
Norman Martin Albert Matsuura George Maurer Scout McCauley Timothy Jon Meagher Connor Metz Jim Middleton Kyle Moran Joshua Morrell Betty Lou Mosshart Angelo Nania Mathew Nasutovicz Casey Nilles Sam and Lynn Noe Shirley Osman Robert Oswalt Alyssa Pape Lydia Pastuszek Christopher Paulsen April Pokorny Jackie Prindle Briley Reiland Ann Reinking Danny Rigney Jeannie Rizzuto Robert Wayne Rose Vince Payne Mikki Payne
Lee Kennedy Daniel Keyes
Gordon Ronald Keyes Family of Henry Kraus Foxy Kusin Miyla Langshaw Shelly Larrieu Sydney Lerman Barbara Lerman Judy & Jerry Lerman Sinclair Li David Liang, MD Team Lulu Crisanna De Luna Jace Luong Gretchen MacCarrick Kathy & Adam Magee Eleanor Magel-Lubka Harold Makanoff Joshua Harold Makanoff Brendan Martin
Alix Jennings Elliott Bobbe
Randy Boelkins Erin Bonecutter Alan Braverman, MD Randall Brest Parker Burleson Chase Callahan Susan Campbell Catherine Cherry Celeste Cook Alex Cornejo Joseph Coselli, MD
Ken Martino Mike Matter Peyton Matthews
Peter deBlecourt Kendra Depinto
Karen Maxwell Ervin McKinnon Bert Medina Roberta and Ally Levesque, and De Melo Amelia Meyers Lisa Meyers
Hannah Dixon Rita Drummer Joe Erikson Sara Erlichman Jessica Falco Cassie Jennings & her family Keyes Family The Bergstrom Family
Terry Schultz Libby Sparks
Donations In Memory Of Brenda Parker & Bill Aduddell Joe Ashworth Sheila Jeanne Attleson Werneth Avril
Casey Sprouse Amanda Stark Mark Stone Richard Stratton Malcolm Tarr
Grace Meyers Bailey Milburn Lebron Miles Matthew Mills Macon Mitchell Hudson Morris Chris Moultrup Karen Murray Michael Murray Christy Nath Peyton Nealey Matthew Newton Carter Nietrzeba Ryan O'Sullivan Noah Padilla Lee Parsons Victoria Pawar Daniel Peters Sarah Prager Melanie Rappard Joanne Ray
Rachel Flynn Noelle Flynn Diane Freim Robert Garrett
Matthew Thiemann Carol & Kirsten Torp Larry Tucker Dan Valdespino Luke Wagner Dolores Walsh Michael Walter Paul Warehall Alana Wesley Henry Wied Dalton Williams IV Nina Wilson Denise Winter Gabriel Younkin David Zimmerman
James C Barfield Victoria Barillas Kelly Anne Barnes
Michael Bartelt Marilyn Baruch Lauren Bates Matthew Baumgartner Charles Benedict Sandy Bird Keith Blocker Mary Bollati Carol Brennan
Sybil Gersowsky Laurel Giacone Isabella Green Dan Gross Daniel Gross Neonatal Marfan Kids Facebook Group
Walter Kealy Evelyne Kelly
Amy Guerriero Jack Guglielmo Hadley Gunn Jordan Hannan Mary Harris Gorden Hedahl Steven Hosking Enid Howard
Hugh Kleinpeter Martha Klobucar Margaret Kristl Julie Kurnitz Kamden Langford Brian J. Laughman Milan Lazorcik
Michael Brennan Adam Burchett George Butler & Jerry Butler Irma Capaccio Rudolph Carbone
22 MANHASSET AVENUE PORT WASHINGTON, NY 11050
Staying Connected. Staying Strong.
The best way to stay up-to-date with new virtual events and programs is by connecting with us on your favorite social media channel.
The Marfan Foundation Facebook: @themarfanfoundation Instagram: @themarfanfoundation Twitter: @MarfanFdn
Loeys-Dietz Syndrome Foundation Facebook: @loeysdietz Instagram: @loeysdietz Twitter: @LDSFoundation
The VEDS Movement Facebook: @VEDSMovement Twitter: @VEDSMovement
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