Connective Issues Winter 2025

Winter 2025

PEARS PROCEDURE: WHAT YOU NEED TO KNOW

HELP & RESOURCE CENTER FAQS

GET CONNECTED WITH WALK FOR VICTORY

Greetings, As we reflect on 2024, I am filled with gratitude for the incredible accomplishments we achieved together. From convening global experts in Tromsø this summer to hosting our Virtual Global Conference, from funding critical research grants to reaching over one million people with our educational materials and programs, every e ff ort has made a profound impact.

The Marfan Foundation is a nonprofit 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.

Our awareness and action months, inspiring walks, and gala events—along with the personal ways you’ve raised awareness in your communities—have helped more individuals enjoy longer, healthier lives. Together, we’ve made 2024 a truly remarkable year for the Marfan Foundation. Looking ahead, 2025 is shaping up to be our best year yet, thanks to the unwavering support of our amazing community. One of the highlights will be Celebrating the Foundation’s 40 th Conference in Atlanta , in collaboration with Children’s Healthcare of Atlanta and Emory Healthcare. Mark your calendars for an enriching experience from July 10 (kicking o ff with our Health Fair) through July 13, followed by Camp Victory in Georgia. More details tocome! I’m thrilled that you stay connected with all things Foundation through Connective Issues . In this issue, we celebrate some of the recent milestones across our divisions, including: • Insights into the PEARS procedure shared by leading experts. • A spotlight on our Help & Resource Center, which fields over 5,000 inquiries annually. Don’t miss the answers to some of the most frequently asked questions! • Advice from teens across our community on thriving with a genetic aortic and vascular condition. • A recap of our fundraising gala events, which fuel our mission through the extraordinary generosity of donors and sponsors. The year ahead brims with possibility—whether it’s scientific breakthroughs, moments of laughter and camaraderie at our walks, engaging symposiums with experts, or the unforgettable connections made at our fundraising galas. Wishing you a joyful and healthy New Year. I can’t wait to see you in Atlanta! Warm regards,

Learn more and get involved at Marfan.org.

CONNECTIVE ISSUES Winter 2025 VOLUME 44 | NUMBER 1 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: Community members, healthcare providers, and Foundation sta ff gathered for the Houston HeartWorks gala on November 22 to honor those making adi ff erence and raise critical funds to support the Foundation's mission. Learn how HeartWorks started nearly 25 years ago with a mom on a quest for answers (page 12).

YOU CAN EXPECT ★ General Session ★ Welcome Dinner & Awards Ceremony ★ Creating Connections Luncheon ★ 40 th Celebration & Victory Party ★ Creating Connections Mixer COMETO ✓ Connect with others like you ✓ Have direct contact with expert medical professionals ✓ Learn more about living with a genetic aortic and vascular condition ✓ Have a great time and make lasting memories!

July 10-13, 2025

Get Ready for to Celebrate at the Marfan Foundation's 40 th Conference in Atlanta! Details and Registration Coming in March We can't wait to see you at our in-person Conference and Health Fair, July 10 to July 13, in association with Children's Healthcare of Atlanta (CHOA) and Emory Healthcare. Plan for three days of medical and well-being workshops at the

Hyatt Regency Atlanta, 265 Peachtree Road NE. There will be special programming for kids and teens with fun activities too! The Health Fair testing will take place on July 10 with evaluations on July 11 at CHOA’s Center for Advanced Pediatrics. Conference kicks o ff the evening of July 11 and extends through Sunday early afternoon. Scholarships will be available.

FunFact: About half of attendees at our previous two in-person conferences were first-time participants.

Plan Now for Camp Victory 2025 Camp Victory is an amazing time for both kids and families. This year, our July 13-18 camp for kids in Georgia will be held right after Conference so kids can continue building friendships in an exciting and safe outdoor environment. A bus will be available to shuttle campers for a one-hour drive from Conference to the camp. Watch for details coming soon! Registration Coming Early 2025

Camp Victory for Kids  July 13-18: Camp Twin Lakes, Winder, GA  July 27-August 1: Sierra Nevada Journeys, Portola, CA CampVictory for Families  September 19-21: Camp Twin Lakes, Winder, GA  October 24-26: Pali Retreat, Running Springs, CA “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 Come after Conference!

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Winter 2025

Our Community’s Top Questions Answered HELP & RESOURCE CENTER FAQS

Started in 1992, the Foundation’s Help & Resource Center reaches more than 5,000 people around the world via our websites, emails, and one-on-one phone calls. Our registered nurses, Director Stephanie Amdur-Clark, MSN, RN, NP, and Janice Petrella Lynch, MSN, RN, answer a variety of medical questions from the community. Help Center Manager Kathleen Bolton o ff ers Spanish-language services to our community. The team put together the most common questions they receive at the Help & Resource Center.

1 How do I know if/when I should get evaluated for Marfan syndrome or a related condition? I believe that I may have some clinical features, and my sibling seems to have some features as well. If you or a family member show signs of Marfan syndrome or another connective tissue condition, it is important to seek an evaluation, even if the symptoms seem mild. Key indicators like long limbs, flexible joints, eye issues (such as lens dislocation), or cardiovascular problems can point to Marfan syndrome or a related condition. Given the potential for serious complications, especially with the heart and aorta, early detection is crucial for proactive management. Schedule a consultation with a cardiologist or geneticist familiar with connective tissue conditions for a proper evaluation. 2 What specialists should I see to be evaluated for a genetic aortic and vascular condition? A thorough evaluation for a connective tissue condition requires a multidisciplinary approach. Start with a cardiologist for initial screening and possible imaging to assess heart and aortic health. Then referrals to a geneticist or a genetic counselor, an ophthalmologist for eye-related concerns, and an orthopedist for musculoskeletal issues can be made. Depending on your symptoms, a pulmonologist may also be important if lung function is affected. It’s important to find specialists who have experience with these conditions.

3 My family tells me that I should get checked and evaluated for a connective tissue condition. There’s nothing that can be done for me, so why do I need to do this? Anyway, I would rather not know. While it’s understandable to feel apprehensive, an evaluation can open doors to vital treatments that significantly improve quality of life and help to prevent complications. Even if you feel fine now, connective tissue conditions can lead to life-threatening issues like genetic aortic and vascular aneurysms (an enlargement of the major blood vessel to the heart). Early detection allows for regular imaging, medications, and surgical interventions that can increase longevity and save lives in some cases. Knowledge truly is power—so getting evaluated isn’t just about a diagnosis; it’s about safeguarding your future. 4 For years I have lived with various medical issues that no one has been able to figure out. Now I am wondering if I have Loeys-Dietz, Marfan, VEDS, or a related condition. I’m in my 40s. Is it too late to seek a diagnosis and care? It’s never too late to seek a diagnosis. Many people are diagnosed later in life, especially when they’ve had unex plained symptoms for years. While earlier detection may have helped prevent some issues, getting a diagnosis now is still crucial for managing your health going forward. With proper care, you can minimize future risks, especially con cerning your heart, spine, and eyes, and improve your quality of life through targeted treatments and lifestyle adjustments. 5 Do I need to get genetic testing? Where do I go to have the genetic testing done? I hear that it is very expensive. Genetic testing can help confirm a diagnosis of Marfan syndrome or related conditions, though a clinical diagnosis is sometimes su ffi cient. Testing can provide clarity for you and your family, especially when considering the heredi tary nature of these conditions. Testing is typically done through a geneticist or a specialized clinic. Costs can vary, but many insurance plans cover genetic testing if medically necessary. Additionally, it is good to get long-term health insurance before genetic testing as it may be denied after genetic testing.

Help and Resource Center

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If you have a medical question, get connected with our Help & Resource Center team at: MARFAN.ORG/ASK

6 I have Loeys-Dietz syndrome, and I am being told contradictory information by my friends and family. Are there any physical activities I should avoid andwhy? With Loeys-Dietz syndrome (LDS), avoiding certain physical activities is essential to reduce the risk of vascular complications, especially involving the aorta. High intensity sports, heavy lifting, and activities that involve sudden, high-pressure strain on the body (like weightlifting or contact sports) should be avoided. Low-impact activities, such as walking, swimming, or light cycling, are generally safe, but it’s important to consult with your cardiologist or a connective tissue specialist to develop a plan that minimizes risks. 7 I have Marfan syndrome, and my spouse and I are hoping to have a baby. I would like to know what we should do to prepare for the pregnancy and the delivery. Planning a pregnancy with Marfan syndrome requires careful preparation and coordination with your healthcare team. Cardiovascular risks, particularly involving the aorta, must be closely monitored before and during pregnancy. You should work with a cardiologist, obstetrician, and genetic counselor who are experienced in managing Marfan syndrome pregnancies. A detailed birth plan that includes potential surgical or intervention options should be discussed. Genetic counseling is also recommended to understand the chances of passing Marfan syndrome to your child. 8 I feel like my care is fragmented and disorganized. How do I “build a team” of specialists that can help me and communicate with one another? Building a cohesive care team requires taking a proactive approach. Start by identifying a primary specialist, such as a cardiologist or geneticist, to coordinate your care. Ensure that each specialist you see (e.g., orthopedist, ophthalmologist) is aware of your condition. Ask your doctors to communicate with each other by sharing your medical records and discussing your treatment plan. Using a patient portal or care management app can also help track appointments and share information among your team. 9 Pain is a daily interference in my life. What can I do about it so I can try to live a more pain-free life? Chronic pain is a common challenge with connective tissue conditions. Managing pain requires a holistic approach, which may include medications, physical therapy, and alternative treatments like acupuncture or massage. Working with a pain management specialist can help tailor a regimen that’s e ff ective for you. Additionally, counseling or support groups can o ff er emotional coping strategies. It’s important to listen to your body, avoid activities that exacerbate the pain, and keep communication open with your healthcare team to adjust your care as needed. 10 Please explain what the recovery after heart surgery will be like. I need to plan for it since I live alone. Recovery after heart surgery can be a gradual process that varies depending on the type of surgery and your overall health. You’ll likely spend a few days in the hospital, followed by several weeks or months of at-home recovery. It’s important to arrange for support during the first few weeks—whether through friends, family, or hiring a paid caregiver—since you may need assistance with daily tasks. You’ll also need to attend follow-up appointments, take medications, and potentially participate in cardiac rehabilitation. Planning for rest, nutrition, and emotional support will help make your recovery smoother.

MONDAY–FRIDAY 9:00 AM–5:00 PM EASTERN TIME

Stephanie Amdur-Clark, MSN, RN, NP

Director of Help & Resource Center

Janice Petrella Lynch, MSN, RN Nurse, Help & Resource Center

Kathleen Bolton Help Center Manager

Whether you're seeking a knowledgeable doctor, a supportive community, or more information about your condition, we're here to help. Just visit our resources page on our website at Marfan.org/resources or reach out to the Help & Resource Center team at Marfan.org/ask .

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Winter 2025

PEARS PROCEDURE What You Need to Know The Personalized External Aortic Root Support procedure (PEARS) is an alternative to the traditional valve sparing and composite graft surgery for aortic root aneurysms. Currently performed mainly in Europe, Britain, Australia, Singapore, and New Zealand, the procedure is a novel surgical technique designed to prevent the aorta from rupturing or dissecting in individuals with aortic aneurysms, such as those with Marfan syndrome or other connective tissue conditions. To date, people from across the globe, including 23 US citizens like the Koehn family on page 7, have traveled to London for the PEARS surgery.

it preserves the patient's own (native) aortic valve, avoiding some of the long-term complications of valve replacement, such as the need for blood thinners for mechanical valves or need for reoperation for tissue valves that wear out and may need repeat surgery to replace. “PEARS is still major surgery with risks similar to conventional surgery,” said Dr. Duke Cameron, a cardiothoracic surgeon and chair of the Foundation’s Professional Advisory Board. “Recovery may be quicker. More follow-up is needed to be able to compare the long-term results of PEARS with conventional surgery, but results are encouraging.”  Where is the PEARS procedure available? The PEARS device and procedure are not yet available in the US because the ExoVasc® graft is not FDA approved. Given its specificity and the need for expert teams, the PEARS procedure is currently o ff ered in a limited number of centers globally, including the Royal Brompton Hospital in London, University Hospitals Leuven in Belgium, and Amsterdam University Medical Centers among others. Special training and proctoring are required before centers can embark on a PEARS program. “Many US patients want PEARS, and there are US sur geons that want to o ff er PEARS,” says Tal. “We’re working on it, but without FDA approval, no medical centers in the US can start preparing.”  How do PEARS medical teams coordinate with a patient’s current healthcare provider? Most patients traveling to London, for example, will have email communication with the medical center or Tal directly. US patients need a CT scan which can be performed in the states. The graft manufacturer, eXstent, will then prepare the patient-specific model and implant before shipping it to the hospital. Virtual calls are then arranged with the surgical team. Accommodation can be organized by the hospital. Patients are provided resources, including information on US health insurers, some of which will pay for PEARS in London. The trip for surgery is approximately three weeks: a few days pre-op for tests at the hospital, five days for surgery and recovery, then seven days out of the hospital before being cleared to fly home. Aftercare is provided by the patient’s local cardiologist.

 What is the PEARS Procedure? The ExoVasc® graft and PEARS concept was developed by British engineer Tal Golesworthy who has Marfan syndrome, along with his colleague, Tom Treasure. Unlike traditional aortic root surgery, PEARS does not replace the aorta. Instead, it uses a pliable mesh sleeve (the ExoVasc® graft), placed external to the aorta to support it and prevent rupture. Data from the patient’s preoperative CT scan is used to manufacture a custom polymeric mesh that matches the size and shape of that person’s aorta. The graft can also be made slightly smaller than the person’s aorta to address some forms of aortic valve leakage (regurgitation). The procedure to fit the ExoVasc® PEARS typically takes two to three hours and involves an incision in the breastbone. Hospitalization usually lasts three to five days.  How many PEARS procedures have been performed? As of November 2024, 1,170 procedures have been performed (838 males and 332 females) from preteen to age 80. Follow-up on PEARS patients include one patient being followed for 20 years, 42 patients more than 10 years, and 265 patients more than 5 years. “We are now 1,175 patients with 4000+ post-operative patient years among us,” said Tal, who was the first patient to have the procedure. “I am over 20 years with a dimensionally stable ascending aorta, no dilation, no dissection and no Warfarin/Coumadin.”  Who is eligible to have the PEARS procedure? The PEARS procedure may be beneficial for people with genetic conditions like Marfan syndrome, Loeys-Dietz syndrome, and those with bicuspid aortic valve as well as other conditions that involve aortic root aneurysms. The PEARS procedure may also be beneficial for women with ascending aortic or root aneurysms who are planning a pregnancy. It may also be attractive in patients with smaller aneurysms and aortic valves that are still working well.  What is the difference between traditional valve sparing and PEARS procedure? The PEARS procedure reinforces rather than replaces the diseased aortic root to prevent aortic dissection and rupture. Like valve-sparing aortic root replacement (VSRR),

For more information on ExoVasc® PEARS, including participating centers and patient stories, visit exstent.com . 6 Marfan.org

 The Koehn family prior to surgery

 Jameson's ultrasound with device in place

 Jameson leaving the hospital

US Family Finds Success with PEARS Procedure

“Going to London for PEARS wasn't a choice – it was a definite,” said Maria whose son Jameson had the procedure in fall 2024. “For us, it seemed like the only smart option for him.” After much research, Maria and husband Jason made the trip from North Dakota to London to get the PEARS procedure for Jameson, age 5, who has early-onset Marfan syndrome. They chose PEARS because it would reduce the need for a repeat procedure, a valve replacement, and life-long blood thinners. According to his parents, Jameson is the second youngest to have the PEARS procedure which was performed at Evelina Children's Hospital in London by Dr. Conal Austin. “We saw PEARS as a one and done with the added benefit of him not needing to go on bypass,” she said. “Upon my many months of research into this topic, I found Dr. Austin to be the most experienced man on the planet when it comes to PEARS procedures.” According to Maria, the surgery was a success and the aftercare was minimal. The family stayed in London until they were cleared to fly. Jameson was unable to attend school until his breastbone was completely healed, approximately six weeks after surgery. Once they returned home, they were instructed to see his regular cardiologist within two weeks who determined Jameson should be seen every three months for ongoing care. The family considers the outcome to be “amazing.” In November, his dilation was 3.2cm, down from 3.8cm prior to the surgery, and he returned to school without restrictions. “Experiencing another country’s healthcare system was di ff erent but overall great and e ffi cient,” said Maria. “What made it so great was all the people we were lucky enough to meet and get to know. It was terribly hard to leave all of them, but we are truly grateful.”

 3D model used to make Jameson’s ExoVasc® PEARS

SCAN TO WATCH HIS TEDTALK, HOWI REPAIRED MY HEART , WHICH HAS NEARLY 1.5 MILLION VIEWS.

“I have Marfan syndrome. I didn’t like the treatment options provided to me, so I created the PEARS project and implant along with colleague Tom Treasure, and became patient No. 1.” ~Tal Golesworthy

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Winter 2025

WALKFOR VICTORY

Get out this spring to mix and mingle with others who understand from your community. It’s fun for the whole family. Sign up today as an individual, start a team, or join a team! View all upcoming WFV events at Marfan.org/walk .  FEBRUARY2 : South Florida (Hollywood)  MARCH1 : Houston  MARCH2 : Phoenix  MARCH29 : Southern California (Costa Mesa)  APRIL5 : Nashville  APRIL26 : North Carolina (Raleigh)  APRIL26 : Tampa  MAY3 : Northern California (Palo Alto)  MAY3 : Washington, DC  MAY 17 : Pittsburgh  JUNE 1 : Milwaukee  JUNE7 : New Jersey (Morristown)

 Team River raised nearly $30,000 for theWalk

BUILDING COMMUNITY One Walk at a Time “The day of the walk was magical,” said Foundation Board Member Dawn Reiner whose daughter River has Loeys-Dietz syndrome. “It was a gorgeous day. Everyone had fun and made great connections. It was so welcoming knowing there are others who live close by with similar issues.” With the help of volunteers like Medical Chair Dr. John Doty from Intermountain Health and community members like Dawn and the Hawkins family, Utah’s first Walk for Victory in September 2024 was a huge success. More than 100 attendees came together and bonded over a like cause while surpassing their fundraising goal, raising more than $41,000 to further the Foundation’s mission. Dawn, a long-time LDS advocate, was instrumental in bringing the Walk to Salt Lake City. Her family moved to Utah in 2020 and discovered the medical community had limited knowledge of Marfan syndrome and related conditions. “We found most doctors didn’t know how to help my daughter River,” said Dawn. “My Walk for Victory goal was to create awareness and education with the medical community while bringing individuals and families a ff ected with Marfan, Loeys-Dietz, and VEDs together so they didn’t feel so isolated.” For the Hawkins family, whose daughter Iris was diagnosed with early onset Marfan syndrome at birth in 2021, it was a chance to connect with community members and doctors who were familiar with Marfan syndrome. “The day was really a focus on our daughter Iris and those who are impacted by these syndromes,” said Winston, Iris’s father. “Our other children and extended family were so excited to support the cause. It was amazing to see many individuals come out to walk for those impacted by connective tissue conditions.” “When Iris was born, we thought we could handle this alone, but the Walk for Victory has helped us to be more involved and learn from others on how to be strong with these unique medical situations,” he said. “It’s an amazing Foundation that brings us all together when we need it most.”

The Hawkins family at the Salt Lake City Walk for Victory

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EDUCATIONAL EVENTS

4 th Spanish-Language Summit: What You Need to Know About Marfan, Loeys-Dietz, and VEDS SATURDAY, JANUARY 25 10:00 am-12:30 pm ET The Marfan Foundation will host its 4 th Annual Virtual Spanish-Language Summit for a ff ected people and their families free of charge. During this educational event, participants will learn the latest on Marfan, Loeys Dietz, and VEDS from medical experts, get their questions answered, and connect with others. The summit will be fully virtual and streamed online, accessible from anywhere in the world. Learn more and register today at Marfan.org/ CumbreEspanol .

Marfan Basics Webinar: Taking Care of Your Aorta TUESDAY, FEBRUARY 11 10:00-11:30 am EDT / 8:30-10:00 pm IST

As part of Marfan Awareness Month in February, the Marfan Foundation, Cleveland Clinic, and IndoUSRare are o ff ering this free, unique learning opportunity for individuals and families living with Marfan syndrome. The speakers will provide an overview of the heart issues related to Marfan syndrome, as well as address medications, imaging, surgery, and physical activity guidelines. Register today at Marfan.org/marfanaorta . Webinar Presenters

Webinar: Dural Ectasia in Marfan and Loeys-Dietz Syndromes MONDAY, FEBRUARY 3 7:00-8:00 am ET This free webinar will discuss dural ectasia in both Marfan and Loeys-Di etz syndromes. Dr. Wouter Schievink, Director of the Microvascular Neuro surgery Program at Cedars-Sinai will explain dural ectasia, its symptoms, and treatment options. Sign up at Marfan.org/duralectasiamarfanlds .

Vidyasagar Kalahasti, MD Cleveland Clinic

Siddharth Prakash, MD, PhD University of Texas Health Science Center

Melind Desai, MD Cleveland Clinic

Ibraham Sultan, MD University of Pittsburgh Medical Center

Patient Perspective: Adam Haniff, MD

Spring Symposiums: Save the Dates As part of the Foundation’s educational outreach, we host symposiums across the country. Collaborating with area medical institutions and experts, these in-person events pro vide opportunities to learn about genetic aortic and vascular conditions like Marfan, Loeys-Dietz, and VEDS, and connect with others from the community. Save the date and plan now for our spring symposiums in April. Register at Marfan.org/ educational-opportunities . APRIL5 : Northern California Regional Symposium: Living Better with Marfan, Loeys-Dietz, and VEDS, Stanford Health Care, Stanford, CA APRIL5 : Michigan Regional Symposium: Living Better with Marfan, Loeys-Dietz, and VEDS, Michigan Medical Center, Ann Arbor, MI

NEW VIRTUAL SUPPORT GROUP Early-Onset (Neonatal) Marfan Syndrome Are you a parent or guardian of a child with early onset (previously called neonatal or infantile) Marfan syndrome? Is your child 18 years old and younger? If so, we invite you to join other parents to discuss the challenges of raising a child with these conditions. This group meets on the second Tuesday of every month at 8 pm EST. View and sign up for all support groups at Marfan.org/virtual-support-groups .

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Teen Voices

Overcoming Challenges Being a teen isn’t always easy. And teens with genetic aortic and vascular conditions like Marfan, Loeys-Dietz, and VEDS may face unique physical and wellbeing challenges that can impact their daily lives. Four teens from our community shared how they have overcome or learned how to deal with these challenges. We are grateful for their candid answers, insights, and advice aimed at helping others. Bailey (13, Illinois) Marfan Syndrome

Sometimes It’s hard to feel normal looking at the short girls with normal hands and normal shoe sizes. It feels weird being the tallest girl in the room, especially next to guys almost a year older than me and almost a foot shorter than me. I’ve been learning everyday more and more how to live with having Marfan and being di ff erent. Behind all the embarrassment in me and trying to hide, I’ve realized I really do love it, being the tallest in the room. Amazing parts of having Marfan are the little quirks that maybe you only have or many others with Marfan have. I have noticeably long fingers, but they just let me show my nails o ff more noticeably and my shoe size…well the bigger the better as they say. Advice for others: I used to struggle with the thought of being di ff erent from people my age - I was taller, skinnier, etc. I wanted to shrink and be the shortest one possible, and I wanted to be normal, yet I didn’t see the most important thing in front of me - myself. I’m so glad I’ve truly found her. If you’re just feeling down or scared about the way you look, feel, or act, don’t be. You’re so focused on what you think are the bad things that are actually the best things that make you stand out to everyone.

Sadie Kowall (14, Pennsylvania) Loeys-Dietz Syndrome One big challenge for me was not being able to participate in “normal kid activities.” I always feel di ff erent and like an outcast with other kids because I’m not able to do as much stu ff as other kids, and I must take breaks more often than others. That draws attention to me. Another thing is having to miss a lot of school because of doctors’ appointments and getting behind. I recently went into cyber school which has helped because of the flexibility and the fact I can do work at my own pace. Advice for others: Some ways I have overcome these issues are going to the Foundation’s conferences and Camp Victory to meet more kids who have similar issues as me. This has made me realize that other kids may feel the same way as I do. I have met some of my now best friends through this and am still in contact with them. Meeting new kids helps with feeling better about myself and makes me feel like I can fit in more with others. Loeys-Dietz is sometimes bad but also it can be good for di ff erent reasons. I try to focus on the good things.

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IanJung (17, California) Marfan Syndrome

Marfan Syndrome makes me very tall and skinny, so one challenge I’ve had to face basically all my life is standing out among my peers. I’m always the tallest person my age, no matter where I go, which always attracts questions that I don’t particularly want to answer. It always annoys me when people think they can ask whatever they want about my height, and when every person uncannily manages to have the exact same set of questions - height, dad’s height, basketball. Though this always makes me sigh inwardly, I’ve found talking to myself helps me get over it. A little humor also works quite well - with the help of my mom, sister, and a few friends, I made a set of business cards with answers to the usual questions typed on, handing them out instead of stopping to talk to whoever had asked. Advice for others: Don’t make a big deal out of it. Even if you do get annoyed, which you often will after a long lifetime of answering the same questions over and over, don’t take it out on whoever’s asking you these questions. Never assume people are actively trying to o ff end you or make you upset by calling out your height. 95% of people aren’t.

Zoe Patterson (14, California) VEDS

I’ve known I had this condition since I was six years old, but I never had any real symptoms other than actually testing positive for the condition - no bruising and no injuries. I was a pretty normal living with VEDS until August 2024 when I had a dissection in my carotid artery which led me to have a TIA (mini stroke) at school. My entire life changed and, after that, I wasn’t fine anymore, and I was susceptible to getting seriously hurt. For the first time I thought about the fact I could die. It’s hard when everything around you seems to move but you’re still stuck in the same place. I’m not going to lie and say I’m completely recovered; I still struggle sometimes with feelings of despair, and of course, I can’t go on roller coasters, which is even more depressing! But jokes aside I have been moving on even if it’s been slow—I have new friends who have been supporting me and my number one supporter has been my family of course. Advice for others: Any advice for someone going through something similar, I would say that your condition doesn’t change who you are. It might feel like your life is over but it’s not. You have so much to live for, and do not let it stop you.

It might feel like your life is over but it’s not. You have so much to live f or , and do not let it stop you. Want to meet other teens with genetic aortic and vascular conditions? Join us at Conference, Camp Victory, or join our virtual Teen Talk, held at 7:30-9:00 pm ET on the third Monday of each month. Reach out to our Teen Program Manager Dominga Noe at dnoe@marfan.org with any questions.

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AMOTHER’S ADVOCACY JOURNEY for Awareness and Research Never underestimate the power of a mother on a mission to help her child. What has evolved into 25 years of transformative fundraising on behalf of the Marfan Foundation and its divisions began with Karen Murray’s initial quest for answers. “I knew early on there was something wrong with my son,” said Karen. “I begged the doctors to help, but no one would listen.”

 Karen presents Dr. Duke Cameron with an award in 2022

Karen's son Michael was ultimately diagnosed with Marfan syndrome, and her desire to find answers – not just for her own family but for the genetic aortic and vascular conditions community at large – inspired Heartworks, the Foundation’s premier fundraising gala that supports vital programs for the Marfan, Loeys-Dietz, VEDS, and related conditions communities. Heartworks celebrates its 25 th anniversary in 2025 with our June 3 gala in NYC. ★ Seeking a Diagnosis Karen’s son Michael was born full term, but some concerns were immediately apparent. Unlike other babies in the nursery, whose hands were curled into little fists, Michael's knuckles were bent backwards. He couldn’t hold a bottle or close his fists. Karen knew that something wasn’t right. Soon, Karen was told that Michael had a dislocated hip and an indentation in his chest bone. Although these findings worried Karen, healthcare providers assured her he was fine, and he was discharged from the hospital. “As a toddler, he frequently suffered from colds, congestion, and respiratory issues like RSV,” said Karen. “He was also too tall compared to most children in Kindergarten. I asked the doctors if there was a condition that could make him grow too fast. I kept taking him to doctors about these issues and was told to calm down and that if he doesn’t grow, that’s a problem.”

It wasn’t until much later, after gathering Michael’s medical records, that Karen discovered the doctors had labeled her as an anxious mother. When Michael turned five, Karen purchased a computer for him that came with a CD titled Family Doctor . As she scrolled through every rare condition on the CD, she came to Marfan syndrome. The description mentioned that children with the syndrome could be taller than their peers, have disproportionately long limbs, contracted fingers and toes, and chest bone di ff erences. Most alarmingly, the syndrome could result in weak connective tissue and a risk of aortic tears, which could cause sudden death. “I panicked and took him straight to a New York City hospital and told them my son has this condition,” said Karen. “They still didn’t take me seriously until I demanded an echocardiogram. After the echo, they came out white as ghosts and said his aorta is twice the size it should be at 2.4cm. They diagnosed him on the spot.” ★ Search for Answers Leads to HeartWorks In 1997, Karen attended her first Marfan Foundation Conference in California, where she met Carolyn Levering, the Foundation's then President and CEO. The experience was overwhelming, but it also marked the beginning of

 Michael holds one of the resin art items in 2000

 Broadway stars Bebe Neuwirth and Ann Reinking in 2017

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 The cast of Chicago performing in 2003

 The Floyd family highlighting community support in 2006

★ A Lifelong Commitment For Karen, supporting the Marfan community became a central part of her life, one she describes as integral to her identity. Her dedication stems from her commitment to her son and the community as a whole. “Being a part of this journey with the Foundation has changed me in every way shape, and form,” said Karen. “I have so much empathy for everyone related to the cause, especially those with Marfan syndrome and related conditions. It’s my

Karen’s journey to support the Marfan community. She worked in the apparel industry and be gan leveraging her connections to raise funds. The following year, she helped launch a fundraiser called the Marfan Artist Project, where artists decorated resin hearts that were auctioned o ff . The inaugural event raised $50,000 through ticket sales and auction items. Over the years, the fundraiser grew, evolving into HeartWorks. Ticket prices increased, and

 In 2008, then Mayor Michael Bloomberg presenting Dr. Hal Dietz with an award

the event expanded, attracting more attention and support. In 1998, Broadway star Ann Reinking, whose son also had Marfan syndrome, helped bring in entertainment, including performances by casts from Rent and Chicago.

everyday life, so I understand.” According to Karen, there’s nothing that is more important than raising awareness and money for the cause, “It’s a part of my fabric, a part of my being. I will do what I can to be present at every gala for the rest of my life.” The most rewarding part for Karen is meeting families and world-renowned doctors and researchers. She also cherishes the friendships she has built with other Marfan mothers, who have become a vital support network. “I’m so grateful for the incredible healthcare providers like Dr. Duke Cameron, Dr. Hal Dietz, and Dr. Alan Braverman; when I think of these doctors giving their time, I am – WE are – so fortunate,” she said. ★ Advocacy Advice Her message to others looking to make an impact is simple: get involved. She encourages people to reach out to organizations like the Marfan Foundation, find local events, and contribute in any way possible. “It doesn’t matter how big it is, it’s about getting involved on any level and feeling like you’re making a di ff erence, helping others, and saving lives,” she said.

Donations surged, reaching millions. ★ HeartWorks Funds Growth

“Initially, everything was about raising awareness because few people knew about Marfan syndrome,” said Karen. “My goal was to make it a household name, but as my son started getting older, he needed surgery. That’s when my focus shifted toward funding research to improve surgical outcomes.” Donations fueled the Marfan Foundation’s growth, enabling it to o ff er more resources like conferences, camps, and webinars and to extend reach beyond the United States. The Foundation also expanded its sta ff andscope to include Loeys-Dietz, VEDS, and related conditions. “HeartWorks is a heartfelt gathering that has helped growourcommunity,”Karensaid.“Thegenuineconnections forged at these events has made them more authentic and impactful.” “It’s a part of my fabric, a part of my being. I will do what I can to be present at every gala for the rest of my life.” ~Karen Murray

Join us at a HeartWorks Gala in New York, St. Louis, Houston, or Chicago – Marfan.org/events.

13

Winter 2025

Every Step Counts

The race made its way through all five boroughs, starting on Staten Island and ending in Manhattan’s Central Park. With over 55,000 total finishers representing 137 countries. The number of applicants to race surpassed 165,000 athletes worldwide, with Team Victory shining through with 10 committed runners – each with personal awareness and fundraising goals that motivated them to take part. Ryan McCarthy tallied the highest total, raising more than $18,800. Ryan became involved in the race after learning about Team Victory from close friend and Foundation Board Member Sinclair Li. “I was ecstatic when Sinclair approached me earlier this year about running the New York Marathon in support of the Marfan Foundation,” said Ryan. “It was the least I could do to support such a great cause. While great progress has been made, there is still a long way to go.” The VEDS Movement was well represented at the marathon by several runners, including Morgan Jozwiak, shattering her $3,500 goal by raising $5,141 for the cause. Morgan runs for her son, Cameron, who has VEDS, her late husband who passed away from an aortic dissection at the age of 21-years-old, and the entire VEDS community. Her goal was to “raise the funds needed for research grants, provide resources for the community, and to get Vascular Ehlers-Danlos syndrome to be a globally well-known condition,” said Morgan. Monica Aliaga-Laud also surpassed her goal, raising more than $4,200. Monica, whose son Milan has Loeys-Dietz syndrome, ran to honor him and “all LDS warriors, their families and friends that sacrifice so much.” Other Team Victory members included Meg Barnes, Jorge De la Garza, Pablo De la Garza, Morgan Mayer, Andrew Mitchell, Meredith Niedringhaus, and Melissa Russo. TEAM VICTORY STRIDES FOR CHANGE The Foundation’s Team Victory laced up their shoes to run in the TCS New York City Marathon on November 3, raising $64,000 towards making a di ff erence in the lives of those living with Marfan, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions.

 Team Victory members Morgan Mayer and Andrew Mitchell cross the finish line

 Monica Aliaga-Laud  Ryan McCarthy

If you would like to be a part of Team Victory in the future, please contact Alyssa Aiello at aaiello@marfan.org.

 Morgan Jozwiak

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 August 11 - November 20, 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

Sinclair Li Dr. David Liang MaryLobo Georgia Mace Eleanor Magel-Lubka Bella Marin Grant Martin Karen Maxwell

Draven Apichonrattanakorn Angelo Asimakopoulos TJBarulli Michael Beardslee Scott Bergkamp Je ff Berkowitz Charles Anthony Bovino Michael Brandt David Braverman Carol Brennan

Allyson Marisch Norman Martin Erica Mayton Scout McCauley Ervin McKinnon Connor Metz

All Marfan Folks Sergio Arguelles Filip Avramovic Leo Azarrafa JoeBailey Katelyn Hendricks Baker Ricardo Belchior Harlow Bergin Debbie Berkowitz Ronna Bowcott Bonnie Bowden KyloBrack Sebastian Brady Dr. Alan Braverman LeahBurke Dani Beth Clements Caitlyn Cooke Elaine Coren Mike Crosby Eric Charles Dalton GregDavis Christian D’Angelo Dr. Abe De Anda Dimitrios Donavos Ellen England Maia Fleener Sofia Maria De la Garza Raquel Gilliland Talia Gorecki Isabella Green Susan Grossi Landon Haddad Iris Hawkins JoshDoss Molly Easly

Uncle Chuck Mitchell Haley McKenzie Monts Ash Morales Andrew Morrell

Dr. James Mayer Ryan McCarthy Rebecca McClain Myla Mickschl Barb, Lara, & Aaron Mooney Janaan Moore

Jennnifer Bu ff one Anita Jo Burdzel SarahCayo Aileen Cheng Steve Ciccariello Mark Cooper Richard Coren George Covington, Jr. Scott Curts

JennyNeil PaulaNeil

Je ff reyNemeth Joseph Neustadt

Elissa Morris Julie Mosee Robbie Mudroch Debbie Murray Lauren Naddy Christy Nath

Anne Newman Cathleen Nilles Shirley Osmand Daniel Miriti Pacheco Carolyn San Paolo Asaka Watanabe Park Christopher Paulsen

Duke Devaney JohnE. Du ff y Michael Enbar Margaret Evans Angela Fassert William Feinstein Olasupo Fowowe, III Julie Frank Stephanie Green Edda Gruber Sean Hamilton John Heinemann MaxHommel JohnHoran Ryan Hubbard Matthew Ingra ffi a Courtney Whitmore Jenson Mark Jerkins Christian Michael Jones

Theresa Newton Ryan O'Sullivan Benjamin Paisley Cece Paisley Elizabeth, Teddy, & Ford Petty Cameron Ponton AnnePower Michaela Rahman-Mang Guidry Ramoin ZayaReed River Reiner

Josefina Piape Carolyn Powell

Cody Powell Adrian Pyke Briley Reiland George Reiland Ann Reinking Jonathan Reyes Lisa Ritell Luis Daniel Rodriguez Montesino

Danielle Richardson James Richardson Amanda Rivera Peter Roos Phil & Prescott Ross Dr. Melissa Russo Patricia Sanders Spencer Skrzypiec Amanda Smith Evan Smolen Olivia Swancer Team Sean's Got Heart Luke Terrell Monique Voorn Alexandra Weygand HenryWied Matthew Williams Colby Young Heather Young

JulieRoos DianeRoth

Eileen Schwend Stanley Schwend Jeremy Semano ff Stacey Shapiro AvaShaw George Sheehan, Jr. Rita Sholton Scott Spalding Michelle & Bodhi Swindle Philip Tannenbaum Burke Taylor Rosanna Taylor JoanThau Ellen Thornton Larry & John Torode Joseph Walsh Wendy Weiss Alana Wesley John 'Jack' David Wides Tony Wilcox

Lucy Henderson Lincoln Hervatin Colleen Horan Kelly Horan Beckett Hotchkiss Lucy Jane

Michael Jordan MaryKau ff man James E. Kelly, Jr. JimKelly Haven Kerns Robert Kitson John Krause Darryl Langshaw Milan Lazorcik Jack Lemmer Melissa Lindland MaryLobo RudyLuna Stephanie Mahnken Daniela Marchan Deborah Marcus Frank Marin

Ginger Jarvis AndrewJe ff s Alix McLean Jennings Cooper Jones Elizabeth Kienker

Brady Klefman Dawn Knowles La Fox Kusin SaraKyle Miyla Langshaw Corrine Lattell Alec Lebeda Sydney Lerman

IN MEMORY OF

Richard Allen, Jr. EricAmes Virginia S Anderson

15

Winter 2025

22 MANHASSET AVENUE PORT WASHINGTON, NY 11050

GET READY TO MAKE A DIFFERENCE!

FEBRUARY IS

MARCH IS

MARFAN AWARENESS MONTH! Awareness is Key

LOEYS-DIETZ AWARENESS MONTH! 20 Years of Awareness

Marfan.org

LoeysDietz.org