Connective Issues Fall 2024

Fall 2024

NEW RESEARCH GRANTS FUEL HOPE

FAMILY FINDS NEONATAL MARFAN CARE TEAM

FOUNDATION IMPACT BY THE NUMBERS

Welcome to Connective Issues! If I had to summarize the spirit of our most recent months at the Foundation, three words come to mind: Global Community Building . Whether I am thinking about our Virtual Global Conference that took place earlier this summer, the recent meetings we convened in Europe, Camp Victory for Kids and Camp Victory for Families, symposiums,

The Marfan Foundation is a nonpro fi t organization that saves and improves lives while creating community for all individuals with genetic aortic and vascular conditions, including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. We work tirelessly to advance research, serve as a resource for families and healthcare providers, and raise public awareness so everyone with genetic aortic and vascular conditions can live their best life.

or our latest Walk for Victory events in Cleveland, St. Louis, and the inaugural Salt Lake City Walk, we have united experts and community members globally to learn and laugh together. We convened Living Better with Marfan, Loeys-Dietz, and VEDS symposiums in Oslo and London for the fi rst time to rave reviews and our joint meeting of GenTAC and IRAD in Tromsø, Norway, brought together some of the most engaged physicians and scientists from around the globe to collaborate on behalf of advancing care for our communities. Because of your support, we have recently been able to award fi ve new research grants totaling $500K to scientists whose work holds the potential to advance treatment, quality of life, and longevity. And since 1986, we have funded 176 research grants. Our recent gala fundraising events broke records, and in this issue, you can read a detailed recap of how their success took shape, thanks to the generosity of our community. So much of our magic happens thanks to our volunteer/ sta ff partnership and the extraordinary leadership volunteers who dedicate so much of their time to advancing our mission in countless ways. In this issue, we celebrate the addition of a number of these energized board and committee members. Thank you to every volunteer who makes a di ff erence for the Foundation every day. We appreciate the rich diversity of the communities we serve. And we are fortunate to have dedicated medical providers and scientists working tirelessly to make life better and longer for people everywhere with genetic aortic and vascular conditions. In closing, thank you for the unique contributions you are making to the Foundation by staying connected to our mission. With appreciation,

Learn more and get involved at Marfan.org.

CONNECTIVE ISSUES Fall 2024 VOLUME 43 | NUMBER 3 Connective Issues is the newsletter of the Marfan Foundation. It is published three times per year.

Inquiries should be addressed to: brandcomms@marfan.org

This issue of Connective Issues is made possible through a grant from The Chu and Chan Foundation.

Michael L. Weamer President & CEO

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

ON THE COVER: James from North Carolina soars on the climbing wall at Camp Victory for Kids in Georgia held in August. Read more about Camp Victory on page 14.

FOUNDATION IMPACT: A Year in Review

43 YEARS

Research & Progress: Serving our global community of individuals, families, caregivers, and healthcare professionals, including doctors, researchers, genetic counselors, nurses, and social workers who treat and care for our community. Striving for a world in which everyone with genetic aortic and vascular conditions receives a proper diagnosis, gets the necessary treatment, and lives a long and full life.

THE POWER OF OUR COMMUNITY Research and education programs fuel connections globally.

Programs & Events

2023-2024

Marfan Awareness Month Loeys-Dietz Awareness Month VEDS Action Month Aortic Disease Awareness Week Educational Webinars International Webinars - German, French, English (UK) Mindfulness Webinar Series 18 Support and Connect Groups Regional Symposiums in Austin, Los Angeles, Pittsburgh, Indianapolis, Portland Walk for Victory in 22 Cities Evening with Heart Scottsdale Heartworks in St. Louis, Houston, NYC, Chicago UnCorked Wine Event Camps in California and Georgia Spanish-Language Summit New Mental Health Resources Pain-Management Study Virtual Advocacy Day Community Group Meetings Disney Half Marathon NYC Marathon

WALKFOR VICTORY

1700+ REGISTRANTS FROM 56 COUNTRIES ADULTS 91%

22 Walks for Victory

Reaching over 6,500 people

99% of participants

TEENS 5% CHILD 4%

ratedvery positive to extremely positive

The virtual conference provided attendees with: • Opportunities for community-building, networking, and support

In 2024-2025 we are planning 24 Walk for Victory events reaching over 6,500 people. Last year we had community chairs from the Marfan, VEDS, and LDS communities.

• State-of-the-art research updates • Medical management education • Mental health programming

Since 1986 176

Help and Resource Center

Through our Help and Resource Center , we reach more than 5,000 people around the world via our websites, emails, and one-on-one phone calls with

our nurses and social worker. Our team helps connect our community with the necessary resources including our institutional directory mental health resources, support groups, educational materials and so much more. s

FUNDED GRANTS

5 , 0 0 0

y,

CURRENTLY FUNDING 18GRANTS INTHE AMOUNTOF $2.2M

We connect thousands of individuals and families to the 70 institutions around the country that offer experience and expertise in Marfan, LDS, VEDS, and other genetic aortic and vascular conditions.

We continue to reach over a million people each year with educational resources.

1 M I

L L I O N

WHERE DOES THE MONEY GO?

1

1

To download our more comprehensive 2-page

1

1

33% 31%

17%

2024 infographic , scan the QR code.

81¢ OFEVERY $1RAISED GOES TO OUR MISSION

RESEARCH

PATIENT SERVICES

EDUCATION & PUBLIC AWARENESS

3

Fall 2024

NEWGRANT PROGRAM RECIPIENTS Supports Focus on Life-Saving Science

The Foundation has awarded five new research grants totaling $500,000. Thanks to the generosity of our supporters, these two-year grants include two Innovator Awards, two Victor McKusick Fellowship Awards, and one Career Development Award. “Research is essential to improving the lives of those in our Marfan, Loeys-Dietz, VEDS, and related conditions communities,” said Josephine Grima, PhD, chief science o ffi cer for the Foundation. “We are excited about these research studies and the possibility they could lead to advancements in new diagnostics and treatment options.”

MEET THE NEW GRANT RECIPIENTS AND LEARN ABOUT THEIR STUDIES:

 Matthew Greenblatt, MD, PhD – Weill Cornell Medical College, New York, NY Skeletal Stem Cell Niche Dysfunction in Marfan Syndrome $100,000 2-Year Innovators Award Skeletal issues are a significant contributor to the overall impact of Marfan syndrome on an individual’s well-being, yet there are currently no drugs approved to manage them. Dr. Greenblatt proposes that the mutations that cause Marfan syndrome disrupt the ability of certain types of stem cells to self-renew and di ff erentiate, producing the condition’s signature skeletal features. Using their insights into these stem cells, Dr. Greenblatt’s study team will use mouse models of Marfan syndrome to screen existing drugs that may be able to reverse the extreme skeletal fragility and increased risk of fractures that can occur.  Lingling Hu, PhD – Hospital for Special Surgery, New York, NY Tendon/ligament stem cell niche dysfunction underlining musculoskeletal phenotypes in Marfan syndrome $100,000 2-Year Victor McKusick Fellowship

Tendon/ligament issues are known characteristics (or symptoms) of Marfan syndrome. However, a lack of understanding of the stem cells forming tendons and ligaments has posed a significant roadblock to defining the broader role in Marfan syndrome. Dr. Hu’s study team recently discovered the stem cell responsible for forming tendons and ligaments and plans to target it to determine which Marfan-associated skeletal features are due to tendon and ligament changes versus changes in skeletal cells other than tendon or ligament cells. This work will help the group determine the feasibility of using a stem-cell-based therapy to reverse the tendon/ligament changes seen in Marfan syndrome.

4

Marfan.org

 Ilse Luyckx, PhD – University of Antwerp, Antwerp, Belgium In-depth exploration of the (epi)genetic landscape of BAV/TAA disease using Smad6-de fi ciency as an entry point $100,000 2-Year Victor McKusick Fellowship The aortic valve ensures unidirectional fl ow of oxygen-rich blood from the heart to the main and major blood vessel of the body, namely the aorta. Usually, this valve consists of three lea fl ets, though some individuals are born with two lea fl ets (i.e., bicuspid aortic valve or BAV). Many individuals with BAV develop valvular dysfunction and/or vascular complications, including thoracic aortic aneurysms (TAAs). TAAs entail a high risk for acute aortic rupture and dissection, resulting in severe bleeding and other serious complications. To date, genetic defects in about

30 disease-associated genes explain less than 6% of the BAV/TAA patients. Even though previous studies have been key in acquiring knowledge on BAV/TAA, the incomplete genetic picture hampers the identi fi cation of individuals at risk for TAA and the discovery of novel therapeutic targets to prevent and/or stop TAA formation. Dr. Luycxk’s team recently identi fi ed SMAD6 as a novel BAV/TAA gene that explains about 4.8% of the genetically a ff ected patients. However, there is evidence that suggests that the primary SMAD6 mutation alone cannot predict the clinical outcome of a patient. In this project, Dr. Luyckx will use other genetic methodologies to identify additional modi fi cations in individuals with BAV/TAA that have this gene mutation, hoping they may help better predict outcomes. The project’s anticipated results will advance the counseling of BAV/TAA patients and add valuable information to our understanding of the molecular basis of other SMAD6 -related conditions.

 Bhama Ramkhelawon, PhD – NYU Grossman School of Medicine, New York, NY Interrogating platelet-derived TGF β 1 signaling in Aortic Aneurysms and Dissections in Marfan Syndrome $100,000 2-Year Innovators Award Prior studies of Marfan syndrome have provided critical insights into the role of aberrant TGF β 1, a protein that contributes to the development of aortic aneurysms and dissections; however, the source of aberrant TGF β 1 and the full spectrum of its signaling pathways is not well understood. Circulating platelets, the subset of cells that regulate blood clot formation, are an important carrier of TGF β 1. Dr. Ramkhelawon’s team has found that genetically manipulated mice with TGF β 1 missing from their platelets are protected from aortic dilation and dissection. During

this project, they will delve into how platelet-derived TGF β 1 contributes to excessive degradation of the aortic tissue and use those fi ndings to determine if anti-platelet drugs can be used to treat individuals with Marfan syndrome.  Aline Verstraeten, PhD – University of Antwerp, Antwerp, Belgium Reinforcement of translational Loeys-Dietz syndrome research through aorta-on-a-chip development $100,000 2-Year Career Development Award

The advent of technology to create stem cells from skin or blood cells (i.e., induced pluripotent stem cells or iPSCs) of patients and/or healthy individuals has revolutionized the biomedical research fi eld. These cells provide an invaluable tool to study and target early disease processes in the relevant human context. With this project, Dr. Verstraeten’s team hopes to signi fi cantly expedite bench-to-bedside translation of Loeys-Dietz syndrome research by developing and functionally validating aorta-on-a-chip (AoC) models derived from thoracic aortic aneurysm

presenting LDS Type 3 (SMAD3) patient and control iPSCs. Organ-on-a-chip modeling refers to creating and characterizing miniature organs grown in small silicon channels that can be perfused with fl uids of interest (blood, medium, etc.) at various fl ow rates and/or pressure regimens. It is anticipated this project will result in the development of a novel pre clinical tool allowing exploration and therapeutic targeting of LDS mechanisms in a human setting that more closely resembles the native aorta than ever before. In this award cycle, the Foundation also granted its second Everest Award to a team of researchers led by Julie De Backer, MD, PhD, a cardiologist and clinical geneticist at Ghent University in Belgium. Details of this award can be found in the previous edition of Connective Issues, found on our website.

To learn more about our Research Grant Program, including funded grants, visit Marfan.org/research .

5

Fall 2024

NEW BOARDAND COMMITTEE MEMBERS

Duke Cameron, MD, Announced as Professional Advisory Board Chair

THE VEDS MOVEMENT New Steering Committee Members  BenKemena andhis

The Foundation is honored to have Duke Cameron, MD, as the new chair for its Professional Advisory Board (PAB) and member of its Board of Directors. He was appointed to the PAB in 2006 and replaces Heidi M. Connolly, MD, FACC, as chair, following the conclusion of her term. “Our Professional Advisory Board represents many of the leaders and brightest medical minds in genetic aortic and vascular conditions,” said Michael L. Weamer, President and CEO. “Dr.

younger sibling have VEDS. He is a retired hospital-based internal medicine physician.  So fi a De la Garza ’s daughter, So fi a María, has VEDS. From Brownsville, TX, So fi ahas been a tireless advocate, spreading awareness and fundraising.  Karen MountainJohnson , MA, LPCC, was diagnosed with VEDS in 2018, followed by both of her children. She is a mental health professional and clinical supervisor, and

Cameron has been a pioneer in the fi eld and has performed lifesaving procedures on many in our community. His leadership and guidance have been, and will continue to be, a tremendous asset for the Foundation and the communities we serve.” Dr. Cameron is world-renowned for his expertise in the surgical repair of the aorta. He is internationally recognized for his contributions to cardiac surgery, particularly aortic surgery for Marfan syndrome, Loeys-Dietz syndrome, and related connective tissue conditions. A well-known cardiothoracic surgeon in Baltimore, MD, Dr. Cameron is a professor of surgery at the Johns Hopkins School of Medicine. Along with Drs. James Black and Hal Dietz, he leads the Johns Hopkins Broccoli Center for Aortic Diseases.

she has been involved with the VEDS community, presenting on topics surrounding mental health and wellness. To view all leadership at The VEDS Movement, visit the About Us section on the website: TheVEDSMovement.org

THE MARFAN FOUNDATION New Board of Directors Members Members-at-Large

THE LOEYS-DIETZ SYNDROME FOUNDATION New Steering Committee Members  Mary Meyers ’ daughter,

 Bryan Maher ’s daughter, Talulla, has Marfan syndrome. In the past seven years, Bryan has run two marathons tobene fi t the Foundation, chaired several NYC Walk for Victories, hosted events in NY to raise money and awareness, and has been a member of the Foundation’s Budget & Finance and Innovation committees.  Jess Milburn , along with her husband, James, are chairs of the Chicago HeartWorks gala and have raised funds to educate and spread awareness for Marfan syndrome. One of the Millburns’ four daughters, Bailey, has Marfan syndrome. Board Advisor  Marcella Nunez-Smith , MD, MHS, is Inaugural Associate Dean for Health Equity Research; C.N.H Long Professor of Internal Medicine, Public Health, and Management; and Founding Director of the Equity Research and Innovation

Adalynn, has LDS. Mary has a background in geriatrics and memory care as well as in the fi nancial industry. Her skills in both industries have helped her become a strong advocate for her daughter and the LDS community.  Carlos Morales ’ daughter, Kaitlyn Rose, passed away in September 2023 at age 14

from an aortic dissection. Carlos was later diagnosed with LDS. In response, Carlos and his family have become advocates for LDS awareness and supporting others a ff ected by LDS. To view all leadership at the Loeys-Dietz Syndrome Foundation, visit the About Us section on the website: LoeysDietz.org

Center (ERIC) at Yale University. Her research focuses on promoting health and healthcare equity for structurally marginalized populations. To view all leadership at the Marfan Foundation, visit Marfan.org/team .

6

Marfan.org

Navigating Pediatric to Adult Care WITH MARFAN SYNDROME

Transitioning from pediatric to adult care for chronic conditions like Marfan syndrome can be a critically important yet challenging step for young adults and their loved ones, including caregivers. The transition of care often coincides withsigni fi cant personal, educational, and social changes, requiring young adults to navigate new healthcare systems, providers, and responsibilities at a time when it may feel like everything they could previously count on is in fl ux. As the Director of Genetics at Mount Sinai Medical Center, Dr. Irman Forghani helps patients with Marfan syndrome and related conditions and understands the

physical and emotional challenges the period of young adulthood can present. “The need for careful planning and coordination is essential,” said Dr. Forghani. “E ff ective transition plans help prevent gaps in care, reduce the risk of complications, and promote adherence to treatment regimens. The health system and medical providers play a key role in facilitating a smooth transition that fosters autonomy and empowers young adults to take an active role in managing their condition[s], ultimately improving long-term outcomes and quality of life.”

★ Continuity of Care: Marfan syndrome is a complex, multisystemic condition that requires ongoing, specialized medical attention throughout an individual’s life. Ensuring a smooth transition helps maintain the continuity of care, preventing lapses in treatment that could lead to complications. ★ Specialized Knowledge: Pediatric and adult care providers may have di ff erent expertise and approaches to managing [connective tissue conditions]. Proper coordination ensures that young adults continue to receive care from providers who are knowledgeable about the condition and its long-term management. ★ Preventive Measures and Monitoring: Regular monitoring and preventive measures are crucial for managing the cardiovascular, skeletal, ocular, and other potential complications associated with genetic aortic and vascular conditions. A well-coordinated transition ensures that these measures are consistently applied, reducing the risk of severe complications. ★ Psychosocial Support: Young adults with Loeys-Dietz, Marfan, VEDS or related conditions may face psychosocial issues as they transition to adulthood. Coordinated care helps address these needs comprehensively, including support for educational and vocational planning, mental health, and independence. ★ Patient Empowerment: Transitioning to adult care involves educating young adults about their condition and empowering them to take an active role in managing their health. This process helps them develop the skills and con fi dence needed to navigate the health care system e ff ectively as adults. ★ Family Involvement: Involving families in the transition process can provide additional support and ensure that young adults have a strong network to assist them in managing their conditions. ★ Timely Preparation of the Patient and Family: Introducing the concept of transition to a new health system in a timely fashion is important to allow education and preparation. Ideally, this preparation should start a few years ahead by providing counseling to help patients develop self-management skills and understand the importance of lifelong monitoring and treatment adherence. According to Forghani, the Multidisciplinary Connective Tissue and Aortic Disease Clinic team at Mount Sinai Medical Center uses these core elements to develop strategies to overcome the challenges when transitioning care. These strategies include a dedicated transition coordinator, comprehensive evaluations, multidisciplinary care, lifelong monitoring, and psychosocial support. Dr. Forghani shared core elements to consider when entering adult care:

“By implementing these strategies, we minimize disruptions and ensure young adults with genetic aortic and vascular conditions receive continuous, high

quality care as they transition from pediatric to adult services.”

Needto fi nd a coordinated clinic or want to know how to set up a care team? Download our clinic directory, comprised of institutions around the country that treat Marfan, Loeys-Dietz, VEDS, and related conditions. We can also help with what questions to ask when evaluating potential medical centers. Visit Marfan.org/using-the-institution-directory .

7

Fall 2024

PROVIDING GLOBAL ACCESS to Education and Connection

With the goal of connecting people living with genetic aortic and vascular conditions, their loved ones, health providers, and researchers from around the world, the Foundation hosted its 2024 Global Virtual Conference, June 17-22. “I am so grateful for the Global Virtual Conference, which was a fantastic experience all week long,” said Luke from Liverpool, England. “As someone whose health issues would make it practically impossible to travel to and attend a conference in person right now, this has been a real lifeline for me and I’m sure many others too.” More than 1,700 people from 56 countries registered for the 5-day event which o ff ered participants opportunities to learn about research updates, medical management, and mental health from healthcare experts. Attendees were also encouraged to connect with others through personal stories, support groups, and interactive sessions. Marta from Lisbon, Portugal, who has Loeys-Dietz syndrome as do her daughter and father, was able to learn more about her condition due to the easy virtual access. Many healthcare providers in Marta’s region have limited knowledge of Loeys-Dietz. Attending the Virtual Conference sessions armed her with more information to discuss with her doctors, adding to the “briefcase of Foundation documents” she carries to her appointments. “I try to search, understand, and know a little bit more

because every day we are facing challenges,” said Marta. “I found this conference very interesting, and I’m still watching every session recorded, so I can review and understand. If I had to go to the U.S. to attend [Conference], I wouldn’t beable to fi nancially or because of my work.” In addition to sessions that spanned Marfan, Loeys-Dietz, and VEDS, interests and concerns like aging, navigating health insurance, mental health, and more, Virtual Conference also o ff ered condition-speci fi c sessions as well as programming for teens and children. Support Groups provided opportunities for a deeper understanding and connections, and Community Chats allowed participants to explore and share similar interests. The event culminated in a Victory Party to celebrate community.

July 10-13, 2025 The 2025 Conference and Health Fair will take place in person July 10-13 in downtown Atlanta, Georgia. Watch for details coming soon!

8

Marfan.org

STATS 1,700+ registrants from 56 countries

CONDITION CONNECTION

Marfan 48%

LDS 19%

VEDS 12%

Other Condition 6%

Medical Professional 6%

Igniting Connections Virtually Virtual Conference kicked o ff with speaker Melissa Flint, PsyD, FT, CCPT, who set the tone for the week focusing on mental and physical well-being, setting expectations, and making connections. She encouraged attendees to view the event as “a chance to meet people from all over the world in this format, that I would never otherwise get connected with.” Attendees like Luke, Marta, and Grace and Tammy from the United States did just that. “It has been so nice to have the opportunity to learn from some of the best experts out there, and to meet people who have been on similar medical journeys too,” Luke said. “At a time when it has been increasingly di ffi cult to fi nd that sense of community, it is so nice to see…such an accessible, supportive, and well-delivered programme.” “It’s good when we hear other people telling their stories because - what they’ve learned, what they’ve been through, how they manage to overcome the issues - it makes me feel not so alone because I don’t know anyone else with LDS here in Portugal,” Marta said. Grace and Tammy attended LDS Connect, a Loeys-Dietz support group, o ff ered during Virtual Conference. After introductions, they realized they both lived in upstate South Carolina. After connecting through social media, and only a few short weeks after Virtual Conference, they arranged to meet for lunch with more meetings in the works. “The virtual conference was free and easy to attend, and it was great to meet some folks at LDS Connect,” said Grace. “Tammy is the fi rst person with LDS that I have met in person other than my family members. It’s really nice to connect with someone that knows the big and small challenges of living with LDS and even better to have that person be local, so we can share info and resources about care in our area and also bond over things that are completely non-LDS related too!” “The sessions were so informative, but it was truly fantastic to connect with other people with connective tissue [conditions],” said Tammy. “It is easy to feel isolated when you are diagnosed with a rare condition. It feels good to connect with someone with shared experiences related to LDS. Makes you know you are not alone.”  Grace Schwartz and Tammy Asplund connected during Conference and met in person afterward.

Other 9%

Attendee Breakdown • Adults 91%

• Teens 5% • Child 4% Geography • Highest state in US represented: CA

• 47 US states • 56 countries (US highest, followed by Canada, United Kingdom, and Australia) Top reasons why people registered: • Find answers to medical question • Learn ways to improve their mental health/ quality of life • Connect with others

Watch Virtual Conference Session Recordings The medical and mental health sessions can be viewed on our YouTube channel. Be sure to subscribe to get the latest educational videos.

9

Fall 2024

ACAR WITH A CAUSE A health scare led Dan Sperry on a journey that would change his life forever. After experiencing an abdominal aortic aneurysm in 2019, he was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS). “While researching how to live withVEDS,IlearnedaboutTheVEDS Movement, and the information I found was instrumental,” said Dan. “I’ve been connected since 2020, and now I’m on the steering committee. Each year, I try to raise money for The VEDS Movement to help further its mission.” One way Dan has helped spread awareness about rare conditions like VEDS is through his Chalkbird car, a 1985 Firebird turned chalkboard on wheels. The journey to the Chalkbird began almost by accident. After his diagnosis, Dan realized he wanted to ful fi ll a lifelong dream of restoring a project car, which led him to a 1985 Firebird that needed signi fi cant restoration. However, as he worked on the car, the challenges of perfecting its bodywork became apparent. “Anyone who restores cars knows you can hide a lot under body fi ller and paint,” said Dan. “The more work I did to get the body nice, the more issues I found.” One day, his son’s bike fell into the car, scratching it down to the bare metal. With no other options, Dan grabbed a can of chalkboard spray paint, and the Chalkbird was born. What began

INTERNATIONAL SYMPOSIA Educated and Empowered Our Community In August 2024, we partnered with like minded organizations in the Nordic countries and in the United Kingdom to hold international symposiums in Oslo and London, advancing globally the Foundation’s mission to save and improve lives while creating communities “As a patient, I think this was the most em powering meeting I have been to in my 59 years living with Marfan syndrome,” said Gareth Owens of Great Britain, about the International Sympo sium in London. Owens is the global leader of the Think Aorta awareness campaign. In Oslo, more than 100 attendees – watching via livestream or in-person – viewed presentations by experts from both the US and Norway – covering topics including exercise, ongoing medical care, medications, aortic surgery, and more. In London, more than 200 people who live with Marfan, Loeys-Dietz, and VEDS attended a full day of presentations and breakout sessions that covered a variety of medical topics, self-advocacy, and considerations for living with a genetic aortic or vascular condition. Beyond the valuable medical information, attendees bene fi ted from new connections – with the doctors and with one another. Many had never met another person with the same condition, demonstrating the power of these events. “Thank you for coming to Norway. For the fi rst time I got to meet another person with the same diagnosis - in real life!”

asasimple fi x evolved into a unique project. Dan decided to transform the car into something that could engage and educate others. “Rather than spending all this time and money trying to get the car perfect, I switched directions,” he says. “I wanted to bring interest in cars back to kids, get them working with their hands, and allow them to show their creativity using the car as a canvas.”

 Dan and his son DJ

Now, the Chalkbird has two missions. First, it encourages young people to take an interest in cars, mechanics, and trades. Second, it raises awareness for the rare disease community, particularly those a ff ected by VEDS, Marfan syndrome, and Loeys-Dietz syndrome. Through his nonpro fi t, Dan uses the Chalkbird to support families impacted by rare diseases, raising funds for organizations like The VEDS Movement. “This project has been so important to me for so many reasons,” Dan shared. “It connects my son and me—my son also has VEDS. I also get to speak to hundreds of people a week, and it amazes me how many have a family history of aortic aneurysms or dissections and don’t understand the genetics involved.” Primarily at car shows, the Chalkbird is also well-known in northern New Jersey. People from the area can request the car at their event or party. For Dan, the Chalkbird is more than just a car; it’s a symbol of connection and hope. “The smiles on people’s faces when they interact with the car are astonishing,” he said. “Knowing that the car may have made someone’s day or even helped someone get a proper diagnosis is what makes it all worth it.”

The Oslo presentations were recorded and are on our YouTube Channel. Be sure to subscribe to receive alerts when new videos are posted.

Upcoming Educational Events Register at Marfan.org/calendar • November 2 – New England Regional Symposium: Living Better with Marfan, Loeys-Dietz, and VEDS • November 9 – New Jersey Regional Symposium: Living Better with Marfan, Loeys-Dietz, and VEDS • January 25 –4 th Annual Spanish-Language Summit on Marfan, Loeys-Dietz, and VEDS (virtual)

10

Marfan.org

SUMMIT IN NORWAY Convened to Improve Patient Care and Outcomes During the GenTAC Aortic Summit, key topics discussed included:

The GenTAC Alliance, a division of the Marfan Foundation, hosted its 8th Aortic Summit, August 28-29, in Tromsø, Norway, in conjunction with the biennial meeting of the International Registry of Acute Aortic Dissection (IRAD). This marked the first event collaboration between the two groups, drawing 135 participants from 21 di ff erent countries. Attendees included adult and pediatric cardiologists, cardiothoracic surgeons, vascular surgeons, geneticists, scientists, and many fellows in training. The summit covered a wide range of vital topics related to genetic aortic and vascular conditions, with in-depth discussions on the latest advances in management, genetics, imaging, lifestyle, and surgical approaches. “The event was an amazing two and a half days of science and connection between colleagues rallying together to push back the barriers in the diagnosis, prevention, and treatment of genetic aortic conditions,” said long-time Foundation leadership volunteer Dr. Kim Eagle, University of Michigan, who serves as IRAD’s director and executive committee chair for the GenTAC Alliance. “The Marfan Foundation and its GenTAC Al liance, coupled with the 60 IRAD centers, are working together to speed discovery in the treatment of Marfan, Loeys-Dietz, VEDS, and related conditions. The future is bright!”

• New guidelines, including the recent AHA scienti fi c statement on pediatric aortopathy and international clinical care guidelines for Turner syndrome • Strategies for identifying and managing aortic dissections, particularly in emergency settings, emphasizing the importance of rapid transfer to specialized aortic centers uponcon fi rmation of dissection • Genetic and epigenetic insights, highlighting rare and common genetic variants, single-cell transcriptomics, and the potential role of facial recognition in diagnosing genetic aortic and vascular conditions • Advancements in imaging techniques and emerging biomarkers with a focus on improving therapeutic decision making and risk stratification for individuals with these conditions • Exercise and mental health following dissection • Updates on surgical interventions, including outcomes after aortic root replacement in individuals with Marfan syndrome and Loeys-Dietz syndrome, and endovascular management strategies for genetic aortic and vascular conditions The IRAD meeting addressed key insights on cardiovascular impacts, focusing on aortic guidelines, clinical trials, and advances in interventional therapies and care management. Sessions included discussions on genetic evaluation, stent graft therapies, and imaging techniques for post-dissection care. A vibrant poster presentation session from both the IRAD meeting and the GenTAC Aortic Summit covered a range of topics, including genetic mutations and disease mechanisms, genotype-phenotype correlations, and clinical outcomes and patient care. The meetings allowed attendees to learn about cutting-edge research and participate in dynamic dialogue and debates. The networking between the two groups also sparked vital discussions on new research projects to improve outcomes for patients. To learn more about the GenTAC Alliance, visit Gentacalliance.org .

11

Fall 2024

QUEST FOR ANSWERS Leads to Diagnosis and Expert Care

Ty and Kelley Brack’s quest for answers has been a long road. For over two years, the couple navigated the complexities of the healthcare system in search of a diagnosis for their three-year-old son, Kylo. Kylo’s challenges ranged from milestone delays to a variety of health issues, including allergies and orthopedic problems. “We had to fight and claw our way through the healthcare system in order to get answers,” said Ty. “Getting a diagnosis for him was quite the journey.” Their search for answers began when Kylo was just nine months old. Over a year later, when Kylo was two, he underwent genetic testing after a physical therapist suggested they see a geneticist. A diagnosis of Loeys Dietz Syndrome opened the door to having other family members tested;

tions on Kelley and her mother, un covering that Kelley needed aortic root surgery and identifying an an eurysm in her mother’s bowel that required surgical intervention. “It’s been a whirlwind,” said Kelley, who had her surgery in April. “I just had my 17th major surgery, and no one did a simple swab all those years. So many things I’ve done through out my life - running, scuba diving, bungee jumping, and even having a child - could have killed me.” “The OHSU team has been incred ible for all of us,” said Kelley. “Because of the NW GAAP Clinic, we can all be seen on the same day by all the team specialists. It’s all synchronized.” The multidisciplinary clinic allows the visits to be coordinated between adult and pediatric cardiology, medi cal genetics, and cardiac and vascular surgery.

“Kylo’s the little guy that saved my life, my mom’s life. If it weren’t for him, we would have never been diagnosed.” ~Kelley  The Brack Family at the Paci fi c Northwest Walk for Victory

Kelley, 41 and her mom, 70, were both later diagnosed. “Three generations of Loeys-Dietz and nobody up here had really seen that before within one family,” said Ty. “There were some services at the local hospital but eventually it became clear that Loeys-Dietz is so rare that

Connecting with Community Following their diagnosis, the Bracks discovered the Marfan Foundation and its division, the Loeys-Dietz Syndrome Foundation. Eager to connect with others facing similar challenges, they attended the NW GAAP Symposium in May hosted by the Foundation and OHSU and one month later, they participated in the Foundation’s Paci fi c Northwest Walk for Victory which was sponsored byOHSU. “We met another family from Oregon a ff ected by Loeys Dietz,” said Ty. “Hearing their experiences and realizing how closely they mirrored our own was both touching and powerful. It was also good to meet others who are in my situation, as a supporter and caretaker.” While Ty has been proactive in seeking support, Kelley has faced her own emotional struggles. “It’s been a tough road with a lot of mom guilt,” Kelley admitted. “The mental burden is something many people might not understand. Managing Kylo’s condition has been a full-time job since birth, but we fi nally feel like we’re in the right hands. We have appointments daily, but at least we’re getting the right care.” Through the process, Ty has learned to channel his frustration into action. “For me, I’ve learned it has been bene fi cial allowing myself to feel anger and not holding everything in,” he said. “It’s frustrating when you can’t get the care you need but that also drives you to take the actions necessary to fi nd the right places and people who will provide the needed help and support.”

many doctors don’t even know about it.” Finding a Knowledgeable Care Team

The Bracks were advised to seek care at Oregon Health and Science University (OHSU), known for its specialized team of doctors focused on connective tissue disorders. The family hoped that a pediatric cardiologist and other experts at OHSU could better address the complexities of Kylo’s rare condition. Dr. Kathryn Holmes, a pediatric cardiologist at OHSU who was treating Kylo, inquired about Kelley’s medical history. Although Kelley had been seeing a cardiologist elsewhere, she decided to switch to OHSU. There, the NW GAAP (Northwest Genetic Aortopathy and Arteriopathy Program) Clinic team performed comprehensive evalua

 Presenters from the OHSU team and the Foundation at the NW GAAP Symposium

12

Marfan.org

GALAS Provide Critical Funding for Research and Programs Special events play a vital role in securing the funding necessary for advancing research, support services, and essential programs. This year, our HeartWorks galas surpassed expectations, raising over $2.3 million and hosting more than 1,200 attendees, including individuals and their loved onesaffected by genetic aortic and vascular conditions and healthcare providers who dedicate their careers to treatment.

 The De la Garza family at Houston HeartWorks

“The HeartWorks Gala in Chicago blew my expectations away,” said Susie Doyle, whose son has Marfan syndrome. “The speeches throughout were so authentic and heartwarming, and the band had everyone on their feet, having a blast dancing. What I loved most though, was connecting with other parents that have children with Marfan syndrome in a joyful, fun environment. This was my fi rst experience attending, and I look forward to next year!” Held in New York, St. Louis, Houston, and Chicago, HeartWorks o ff ers a special evening fi lled with music, fi ne dining, auctions, and a chance to honor community members. The

 Chicago HeartWorks chairs, James and Jess Milburn with daughter Bailey

galas recognize some of the world’s leading medical experts, business leaders, and volunteers who have made significant contributions to advancing the understanding and treatment of genetic aortic and vascular conditions. These events also provide a personal glimpse into the lives of those impacted, fostering awareness and generating meaningful change. “This year was particularly special as we marked the 15th anniversary of Heartworks St. Louis,” said Dr. Alan Braverman, who, alongside his wife Rebecca, has hosted the gala since its inception. “Celebrating this milestone with friends, family, and the greater Marfan and related communities was a momentous occasion for us.” In addition to the HeartWork galas, the Foundation also organized two wine tastings, Evening with Heart Scottsdale and Uncorked in New York City, which raised an additional $100,000. Through these events, we continue to raise critical funds and awareness, advancing our mission to support those a ff ectedby genetic aortic and vascular conditions. Thank you to all those who have attended, donated, sponsored, supported, and shared their voices to make an impact. Get tickets today to these upcoming special events: ★ November 7 – Evening with Heart Scottsdale

 Heartworks St. Louis hosts, Dr. Alan and Rebecca Braverman

★ November 22 – Houston HeartWorks ★ February 21 – Chicago HeartWorks

Voices for Victory , a video shown at each HeartWorks Gala, spotlights a community member’s or family’s journey with Marfan, Loeys-Dietz, or VEDS. Watch the videos on our YouTube channel or scan the QR code to learn how these conditions impact our community.

13

Fall 2024

CAMP VICTORY 2024RECAP Six years ago, the Foundation began o ff ering Camp Victory to provide a fun, safe environment where kids and families a ff ected by Marfan, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions could have a traditional sleep-away camp experience that is medically monitored and accessible for all. “For many children, attending the kids’ camp is their fi rst time meeting someone with a similar condition,” said Andrea Friedman, MSW, client services manager and camp director for the Foundation. “It’s amazing to see them create bonds and lasting friendships and be more independent, learning new skills, and building con fi dence.” Camp Victory for Kids in Georgia and California, held in July and August respectively, hosted 38 campers, 20 volunteer counselors, fi ve Foundation sta ff members, and fi ve medical sta ff of volunteer nurses and medical directors. Camp Victory for Families will also be held in both states this fall (registration is closed). This weekend-long camp is designed for the entire family to experience activities and meet other families impacted by genetic aortic and vascular conditions. We will be hosting Camp Victory in the summer and fall of 2025. Watch for information posted soon on our website or reach out to Andrea, afriedman@marfan.org. “Camp Victory is such a special experience for kids with vascular conditions and their siblings! My kids have participated two years in a row, and it is their favorite thing of summer!” ~ Katherine Dowdney, mom of Emerson and Margot who have attended Camp Victory for Kids in California  Emerson (right), who has VEDS and his sister, Margot Through the generosity of our donors, scholarships were provided to half of the 2024 campers. If you would like to support a camper, please visit Marfan.org/donate . Be sure to specify you would like to support Camp Victory. Thank you!

WALK FOR VICTORY BUILDING COMMUNITY and Raising Essential Funding

The Walk for Victory program has become a unifying and impactful event over the years, bringing together individuals and families a ff ected by genetic aortic and vascular conditions. Each walk is designed to foster a sense of community while raising critical funds for research, education, and support. Thanks to our generous supporters and sponsors, last year’s walk season featured 22 walks across the country, raising a record $1.3 million with more than 5,000 registrants and 282 teams. “The Victory Walk has been a part of our grief and healing journey for our LDS a ff ected family and Lanky Legends Team of friends and family in support,” said Katie Lance whose husband and son have Loeys-Dietz syndrome. “The journey with these vascular diseases is a battle (often unseen and misunderstood) that we cannot fi ght alone. Gathering together is a tangible reminder that we are seen and understood, we gain strength in unity and can persevere together with love and hope.” Highlights from last year include two new locations in Denver and Pittsburgh. Pittsburgh set the record for most attendees for a fi rst-time walk. Houston took the honors for top fundraising walk with 736 registrants and more than $140K raised. The Walk for Victory events o ff er a non-athletic walk, fun family activities, award ceremonies, and opportunities to connect with other community members and healthcare providers. The spirit of the walks centers on community involvement, awareness, and advocacy, making each walk a pivotal part of the Foundation’s outreach. Find a Walk for Victory near you at Marfan.org/walk.

 The Lance family’s Team Lanky Legends at the Michigan Walk for Victory

14

Marfan.org

WE REMEMBER AND HONOR We are grateful to our members and friends who made contributions in memory of, or in honor of, the following individuals between April 1 – August 10, 2024. These donations support our programs and services that create a brighter future for all those living with genetic aortic and vascular conditions, including Marfan, Loeys-Dietz, and VEDS. Donations to Walk for Victory are not included. If you would like to remember or honor someone special, please visit Marfan.org/donate . DONATIONS IN HONOR & MEMORY

INHONOROF

Jack Ish Alix & Ezra Jennings Cassie Jennings Cooper Jones Jerrod Jung Jameson Justen Jill Kaeppel-Sheiner

David Ricca James Richardson Emilio & Xaeed Rico Ayden Riggs Amanda Rivera Michael Roberts Caden Schae ff er Rhett Seaberg William Selvitelle LillyShaw Adrian Sierra Spencer Skrzypiec Michelle Smith Evan Smolen Eleanor Stahura

SarahCayo Aileen Cheng Steven Ciccariello Eileen Cieslik Joseph & William Colavito

Mary Beth Meader Connor Metz Haley Mints Luis Daniel Rodriguez Montesino Haley McKenzie Monts Claire Moore Kaitlyn Ash Rose Morales

All Marfan Folks Allen Family Jaelyn Allmon Arche Family Elizabeth Aronson RobAsche Filip Avramovic

Nancy Conger Richard Coren Heather Cottier Robert Cronquist Baise Dafoe

Bella Kehoe BenKemena Daniel Keyes Robert Kitson Brady Klefman Dawn Knowles

Lucie Morehead Andrew Morrell

Mary Bailey MarenBain NoraBaker

Pam Moultrup Joe Neustadt JonNiemi Debbie Niespodziani Casey Nilles Cathleen Nilles

Robert L. Daly Larry D’Apice Robert Armin Dearworth John deBlecourt John Michael Donovan Amy Jo Eannuzzo Gaylene Ebling JayElliot AnnaEllis Michael Enbar Eerett W. Erwin Manouchehr Esfandiarei Dane Everhart Matthew Kenneth Fanneli William Feinstein LeeFink Eric Fitzgerald Nathan Fletcher Commander William Forster Olasupo Fowowe, II Grace Friend Steve Gallo Merv Ganesh Milton & Marjorie Golden Alex Hardtke Scott Heisler Michael Henter MaxHommel Jill Kaeppel-Sheiner Ross & Kathleen Hooker Matthew Ingra ffi a Christopher Jedda John David Johns Bill Johnson Michael Jordan Theodore G. Kurowski, Jr. Haven Kathleen Kerns Neal Kidney Donald “Joe” Kirkham Bruce Klein Michelle Ann Koppelman Margaret McCabe Kristl Theodore Kurowski Alexa Lawrence Jack Lemmer MaryLobo RudyLuna Stephanie Lee Mahnken David Hufnagle Scott Hunefeld Eileen Ilberman

Mary Kate Barnes Ricardo Belchior Sam Biggart JackBish Emma Borreggine KyloBrack Sebastian Brady Dr. Alan Braverman Sean Broadbent Beth & Allison Brobst Quade Bywater Isaiah Callahan Bridgette Camasso Jordan Clark Katharine A. Clarke Dani Beth Clements

Will Kocian AJKrocker Audrey Krocker FoxyKusin SaraKyle MaryAnn Laccabue Dr. Ron Lacro Randy & Simon Lance MilanLaud Lanky Legends Sydney Lerman Colton (Coli) & Brant Lemieux Preston & Simon Li Sinclair Li Eleanor Magel-Lubka

SamStout TeamBlum Team J.A.G. VEDS Warriors The Fox that Rocks

Otto Nitschmann Anthony Nocella Rodney Oberle Dillon Oliver

Maggie Tucker Alexander Utz Miguel Velasquez Daniel Vicini Carisa Walker Diane Walsh

Daniel Miriti Pacheco Christopher Paulsen Vince Payne

Jose fi naPiape Carolyn Powell Terry Preiss Terry Don & Ginger Preiss Caroline Pugh Briley Reiland Ann Reinking Jonathan Reyes Shirley, Daniel, Andrew, & Janet Rigney Patricia Roberson Ellin Rosenthal Brooke Roth NoaRussel Marilyn, David, Allan, & Carol Ruth Michael Salzillo David Schettler Patrick Schumer Eileen M. Schwend Susan Selvitelle Jeremy Semano ff Stacey Baratz Shapiro AvaShaw Joan Shields Lucille St. Laurent John F. Stuart Michelle & Bodhi Swindle Luke Terrell Jason Theriault Carson Toane Larry & John Torode ColeTran Daniel Vicini

Joseph Walsh Brandy Ward Adam Warren Stacey Watson Drake Welliver Denise Wesolowski Jonathan Wetzel Alexandra Weygand HenryWied Matthew Williams Connor Wilson Sam Woodhouse Joy, Adriana, & Gianni Xhudo Heather Young JaneZore IN MEMORY OF Derek Adams Homer Ailstock EricAmes Virginia S. Anderson Erik Dominguez Armenta Angelo Asimakopoulos Wayne Ayscue Melissa Balke Dennis Banh Stacy Baratz Charlotte Basurto-Olsen Scott Bergkamp Chris Biggart Marci Bikshorn Charles Bovino Stephanie Braconnier Michael Brandt David Braverman Penn & Patricia Broecker

Joseph Colavito Sheryl Colavito LeoCole

Matt Lupton Talulla Maher Isabella Marin Dawn Marisch Judy Marshal Grant Martin Karen Maxwell Patricia Mayer Lisa McCormick BenMeiner Camila Melero Adalynn Meyers Miss Steph Bailey Milburn Barb Mooney Claire Morris Bella Morrison Lynda Moylan Robbie Mudroch Michael Murray Betty Nagatani Christy Nath Theresa Newton Marko Oliva

Caitlyn Cooke Coops. Troops Charlie Cowden Ariele Damaa Christian D’Angelo-Je ff ries Jonathan DeLong Denton Family Matthew Dimarzo

Haley Dostalik Rachel Dudley Clifton Durand Mila Dziewit Gabriella Earnhart Callie Efurd Auntie Face Eric Filipkowski Maia Fleener Catherine Foscaldo AlexG Lisa Anne Gallagher Christa Piccolo-Gallo Giles Family Isabella Green Farrah Greenlees Goggin Family Hadley Gunn Nicholas Guthrie RileyHadt Iris Hawkins Lucy Jane Henderson Noah Hirschensohn Beckett Hotchkiss Brian Howell Gaynell Howell David Hufnagle Mary Scott Hunter

Reeves, Grant, & Jen Olson William Oxman & Family Luz Padilla Noah Padilla

Joseph Walsh Michael Walter Dolores Warnke Mercedes Weber

Elizabeth Petty Jo Lynn Philippi Kendall Podsen Kristi Posival AnnePower George Preiss

Kelli Weickum Alana Wesley Kyle Whitford Denise Winter Michael & Chris Yasick Elizabeth Young

Frank Marin Ally Marisch

Jennifer Bu ff one Anita Jo Burdzel

Dr. Reed Pyeritz Guidry Ramoin Drew & Sarah Rankins River Reiner

Norman Martin Albert Matsuura Erica Mayton Scout McCauley

Parker Fount Burleson Jerry & George Butler Chelsea Cameron-Horner

15

Fall 2024