Connective Issues Spring 2022

Research Issue

Spring 2022

CONFERENCE IS IN PERSON THIS SUMMER

PREPARING FOR SURGERY

LIVING WITH RISK

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. We will not rest until we have achieved victory.

Spring is here, and there is so much to celebrate. Research, which provides so much hope for today and better lives for the future, has come so far. We are so very grateful to the clinicians and scientists at the forefront of life-changing breakthroughs making life better for generations to come. From the leading researchers in the fi eld, many of whom are on our Professional Advisory and Scienti fi c Advisory Boards, to those who are our latest research award

recipients bene fi ting from our enhanced Research Grant Program, you are individually and collectively making a lifesaving di ff erence. We also continue to see results from the ancillary studies we helped to fund as part of the NHLBI clinical trial a few years ago. Another celebration is for our community coming back together again – this spring at HeartWorks St. Louis and at so many Walks for Victory around the country and then, this summer, at our E 3 Conference: Educating, Empowering, and Enriching Our Community. We could not be more excited about E 3 , which is being held in association with Hoag Memorial Hospital Presbyterian on July 7-10 in Newport Beach, CA. We will have general sessions, medical workshops, and more breakout sessions than ever before on mental health topics, plus individualized tracks for Marfan, Loeys-Dietz, and VEDS, mixers to connect with old and new friends, a special trip to Disneyland for children and teens, and so much more. I hope you will join me there! As we emerge from the pandemic, we have felt the power of our community. Our in-person events this spring have been bigger than ever before. And your impact when you come together to support each other and help advance the mission of the Foundation is all inspiring. With this renewed connection and enthusiasm, we hope you are experiencing the optimism of the future. We are thankful for the opportunities for our community that are brought about by advances in research and the doors opening for personal and group in-person experiences. We hope reading this Connective Issues will have you celebrating as well. See you in Newport Beach!

Learn more and get involved at Marfan.org.

CONNECTIVE ISSUES Spring 2022 VOLUME 41 | NUMBER 2 Connective Issues is the newsletter of The Marfan Foundation. It is published three times per year.

Inquiries should be addressed to: Publicity@Marfan.org

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

Michael L. Weamer President & CEO

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

ON THE COVER: Recipient of the 2021 Career Development Award, Je ff erson Doyle, MBBChir, PhD, Johns Hopkins University

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We are excited to announce that, after three years, we are hosting the E 3 Conference: Educating, Empowering, and Enriching Our Community, in person in Southern California! Make plans to reunite with the community at the beautiful, new VEA in Newport Beach, a Marriott Resort & Spa, July 7-10, 2022. This year’s event is held in association with Hoag Memorial Hospital Presbyterian. “We are looking forward to being together again this summer,” said Michael Weamer, President & CEO, of The Marfan Foundation. “We are grateful to Hoag Memorial Hospital Presbyterian for their incredible support and for making it possible to hold E 3 in beautiful Newport Beach. The Hoag Clinic for Marfan Syndrome & Related Conditions is a leader in treating those in our community, and we could not have a better partner. Attendees can expect to learn directly from medical experts at Hoag, as well as from our Professional Advisory Board of experts on Marfan, LDS, and VEDS. And the opportunity to again connect in person with community is truly priceless.” Whether this is your first conference or if you are a returning attendee, you can expect unmatched educational opportunities and Q&A sessions with medical experts, as well as sessions focused on Marfan, Loeys-Dietz, VEDS, and Stickler. There are also special, age-based programs for teens and children (ages 5-18). Experience many opportunities during the conference to reconnect with friends and forge new, lasting bonds through condition-specific meetings, social events, and fun activities. In 2018, if you would have told me that I was about to step into a community that would change my life forever, I probably would have laughed at you. Prior, there was absolutely nothing I thought an organization like The Marfan Foundation could ever o ff er me in terms of my overall well-being. I was wrong. Four years, two family diagnoses, multiple connections, and a plethora of new resources later, I can't imagine where I would be right now had I not made it to Santa Clara for the annual conference. I can’t wait to see everyone again in Newport Beach. – Mike Scribner, Chandler, AZ

p Conference is a great time to make new friends and connect with old friends in the Marfan, LDS, and VEDS community.

REGISTRATION IS NOW OPEN! Make sure to register by May 31 to receive the discounted registration fee. As always, children and teens are free with a registered adult. Book your room by June 13 to receive the discounted group rate. Be sure to book early before the room block is full! NEW IN 2022 • Condition-specific tracks & mixers for Marfan, Loeys Dietz, VEDS, and Stickler • A safe, chaperoned trip to Disneyland for kids and teens • New workshop topics, with a special focus on mental health and quality of life All conference details including registration, agenda, speakers, health fair, and special events can be found online at Marfan.org/E3Conference .

p Mike (center) with his conference friends.

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Spring 2022

$200,000 AWARDED IN NEW RESEARCH GRANTS

In January, The Marfan Foundation announced $200,000 in new grants were awarded as part of its 2021 Research Grant Program. These grants include a fellowship award and a career development award. The newly-funded projects address aortic and optic issues in Marfan syndrome. “The recent grant awards from the Foundation re fl ect our commitment to supporting research that enables scientists to conduct critically important studies that require seed money for preliminary data in order to get larger government grants in the future,” said Dr. Josephine Grima, Chief Science O ffi cer for The Marfan Foundation. “With the addition of these grants, we are now funding a total of 33 research studies, which all have a common goal to improve the lives and bene fi t

those living with Marfan, VEDS, Loeys-Dietz, and other genetic aortic conditions.” The Victor McKusick Fellowship Award, $100,000 for a PhD over two years, is designed to support postdoctoral fellows embarking on a scienti fi c career in biomedical research related to Marfan syndrome or any of the genetic aortic or vascular conditions that are within the Foundation’s scope of interest. This award requires an institutional match where half of the funding comes from the Foundation and half from the sponsoring institution. The Career Development Award, $100,000 over two years, is designed to support investigators early in their career to derive preliminary data in a key concept area that has high potential to lead to extended funding from the National Institutes of Health (NIH), European Union (EU), and other large research funding sources.

RESEARCH GRANT RECIPIENTS VICTOR MCKUSICK FELLOWSHIP AWARD $100,000 ▸ Josephina Meester, PhD, Bart Loeys, MD, Mentor, University of Antwerp Pathomechanistic Study of Biglycan Mutations in Aortopathy Development The aorta is the body’s main artery and supplies oxygenated blood to all parts of the body. A dilatation (enlargement) of the aorta at the level of the thorax leads to the development of thoracic aortic aneurysms and dissections (TAAD). These weakened regions are vulnerable to tearing and this often results in sudden death. In 2017, the researcher identi fi ed BGN

(Biglycan) as a novel genetic cause of a severe form of TAAD, which is now called Meester-Loeys syndrome (MRLS). This novel syndrome shows features similar to Marfan syndrome and Loeys-Dietz syndrome. Based on the current knowledge, it remains unknown which molecular mechanisms explain how exactly these mutations in BGN lead to TAAD (MRLS). This project aims to further unravel the disease mechanisms underlying MRLS by using a technique called (single cell) RNA sequencing, allowing the researcher to determine which genes are (highly) active and which ones are not. This method will be applied on a male mouse model which lacks biglycan and that also leads to the development of aortic disease. The results will then be validated in a human cell model. The expected results will be bene fi cial for genetic counseling and clinical follow-up of the families. Furthermore, the study can lead to the development of more personalized preventive therapeutic strategies. In the long run, it is anticipated that the research group will also use these mouse and cell models for drug compound screenings for TAAD in general. CAREER DEVELOPMENT AWARD $100,000 ▸ Je ff erson Doyle, MBBChir, PhD, Johns Hopkins University Treatment of Axial Myopia in Marfan Syndrome using Prostaglandin Analogs

Severe near-sightedness is highly prevalent and can cause signi fi cant visual impairment in Marfan syndrome. However, the molecular mechanisms driving pathological eye growth in Marfan syndrome and therapies to combat it are almost entirely unexplored. This study will evaluate whether Prostaglandin analogues (PAs), a class of clinically-available eye pressure lowering eye drops used to treat glaucoma, a condition for which people with Marfan are at increased risk, can reduce severe near-sightedness in mice with Marfan syndrome. This

proposal aims to identify a novel way to reduce pathological eye growth in Marfan syndrome using a clinically approved class of drugs that could be easily translated into human use. The broader goal of this work is to better understand the mechanisms driving severe near-sightedness in Marfan syndrome to help identify new treatment strategies for this clinically-important but largely unexplored issue.

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registries of health information and samples, like blood plasma, from individuals a ff ected with Marfan syndrome and Loey-Dietz to identify patterns related to these conditions and aid in the development of clinical trials and treatment plans. • Increasing collaboration amongst researchers and making it easier for them to collect and share relevant health information related to Marfan syndrome and Loeys-Dietz. Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder Aortic and vascular complications are often the focus of patient care practices and research related to Loeys Dietz, with some additional attention paid to topics like orthopedic issues, asthma, and food allergies. In this article published in the journal Otolaryngology – Head and Neck Surgery, the authors describe their study of 36 children and adults with Loeys-Dietz types 1-4 and how the condition a ff ected their hearing, ears, and face/head. Researchers found mild to moderate hearing loss in 69% of the study participants. A split uvula (the tissue at the back of the throat), hard cleft palate, and post-tympanos tomy tympanic membrane perforation (when a hole exists between the external and middle ear) were more common in LDS-1 and LDS-2 than LDS-3 and LDS-4. Based on their fi ndings, the study team recommended healthcare professionals pay close attention to the hearing and ear health of individuals with Loeys Dietz to manage existing issues and prevent further complications from developing. phenotypic variability and response to treatment in the largest genotype-phenotype pediatric Marfan syndrome cohort, was recently published in Genetics in Medicine. The lead researchers were Dr. Bart Loeys, a member of the Loeys-Dietz Syndrome Foundation Medical Advisory Council and Dr. Josephine Meester from Belgium as well several members of the Foundation’s Professional Advisory Board: Hal Dietz, MD, Johns Hopkins; Shaine Morris, MD, PhD, Texas Children’s Hospital; and Ron Lacro, MD, Boston Children’s Hospital; and several more. In their research, Dr. Loeys and colleagues found that the more severe cardiovascular phenotype was not restricted to mutations in the neonatal FBN1 region, exon 25-33 but was also seen in exons 26 to 49. They also found that ectopia lentis (lens dislocation) is more prominent in some genetic mutations, and there is no di ff erence in the response to treatment between di ff erent types of mutations. STUDY YIELDS NEW FINDINGS

RESEARCH The Loeys-Dietz Syndrome Foundation, a division of The Marfan Foundation, is proud to support clinical and basic science research on Loeys-Dietz syndrome, and it is an integral part of our mission. There have been several recent research articles, all of which have a signi fi cant impact on LDS education and our community. Here are two recent publications. Toward Precision Medicine In Vascular Connective Tissue Disorders In this review published in the American Journal of Medical Genetics , the authors outlined the history of Marfan syndrome and Loeys-Dietz syndrome. The authors identi fi ed a number of obstacles to overcome to advance research and o ff ered recommendations including: • Getting a better understanding of laboratory-based technologies, such as induced pluripotent stem cells (adult stem cells “reprogrammed” to mimic embryonic stem cells), mouse models, and gene editing technologies (editing DNA) and how they can be used to learn more about Marfan and Loeys-Dietz and improve care. • Expanding imaging beyond traditional echocardiograms and CT scans for individuals with Marfan or Loeys-Dietz to help predict the severity of disease or support diagnosis. • Supporting the development and expansion of large History was made from 2007 to 2014 when the Pediatric Heart Network of the National Heart, Lung, and Blood Institute (NHLBI) conducted a 608-person clinical trial on losartan and beta blockers in treating Marfan syndrome. The Foundation played a critical role in the enrollment of people in the study. Never before had such a large study group on Marfan been conducted by the NHLBI and the Foundation was determined to maximize the research opportunity that having such a large cohort provided. Because of this, the Foundation funded ancillary studies to the original clinical trial to further advance research on Marfan syndrome. While the clinical trial results were announced in 2014, the ancillary studies continue to yield results, most recently with the publication of a study on the most severe cardiovascular features that are associated with neonatal Marfan syndrome. This genetics study, Molecular characterization and investigation of the role of genetic variation in

To view all research studies, visit the research tab at LoeysDietz.org.

PHN ANCILLARY

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Spring 2022

PREPPING FOR SURGERY MENTALLY AND PHYSICALLY

on walking for 30 minutes and build up from there as tolerated. Similarly, walking up and down a few fl ights of stairs in the weeks leading up to surgery can help. Commonly we fi nd that the more active someone is before surgery, the sooner they will return to full activity afterward. u What is your best advice for preparing mentally for surgery? Mental preparation for surgery is di ff erent for each person. An open conversation with the surgeon is the best place to start, particularly for those who feel more comfortable knowing the details of the operation. If possible, connect with others who have had similar operations, which can help provide a sense of what to expect, and most importantly, demonstrate that full recovery is possible. The Marfan Foundation is a great resource for connecting with similar people in the community. u What recommendations do you have post-surgery for recovery, both mentally and physically? The biggest thing I like to emphasize is that recovery from open-heart surgery is a long process and requires patience. Over the 2-3 months (and sometimes longer) of recovery, there are good days and bad days—it is not always a straight line back toward normalcy. Small setbacks are a common and expected part of the recovery process. This is important to understand so that patients and families do not become discouraged and continue to trust that the overall progress remains good. Be con fi dent in your surgeon and his/her team, as they will guide you and help you get back to the fully active person you were before your surgery. u How do you recommend reducing stress about surgery? Having heart surgery is a scary process, and being anxious about it is completely normal. There are two main ways that I think are most helpful to reduce anxiety and worry around this process. One is to talk with others who have had similar operations in the past. The other is to trust the surgeon and team that will be providing your care. The Marfan Foundation is a great resource for helping with both of these measures. The Marfan Foundation o ff ers many resources to connect with others for information and support and to prepare for and learn about the di ff erent types of surgeries. Learn more at Marfan.org, and be sure to check out our Aortic Health & Surgery Series on YouTube.

One of the most di ffi cult situations for someone with Marfan, Loeys-Dietz, or VEDS is when they are facing aortic surgery. We spoke with Clayton A.

Kaiser, MD, thoracic surgeon at Ascension Saint Thomas Hospital in Nashville, TN, to get insights about how to best prepare for surgery. u Do you think people adequately prepare for surgery? Every person prepares for surgery di ff erently. There is no one-size- fi ts-all approach. Some will want to know every detail of their procedure, including watching videos of open-heart surgery online. Others do not want to know any speci fi cs because thinking about the details of their surgery leads to anxiety. I typically recommend that people do not watch any surgical videos before their operation, as the visual can be a lot for a non medical person to process and understand. In general, I think people should have an understanding of what operation they are having and should be able to explain to their family and friends the basics of the operation, e.g., replacement of my ascending aorta, repair of my aortic valve, etc. Becoming familiar with details beyond this can be handled on a case-by-case basis. u Why is it important to prepare physically and mentally for surgery? Open-heart surgery is a signi fi cant operation, and the scope of it should always be well explained to patients and their families by the surgeon and his/ her sta ff . Being in the best shape possible—mentally and physically—heading into surgery optimizes an individual’s chances for the ideal outcome: a smooth recovery from surgery, a shorter stay in the hospital, and return to full activity at home sooner. u What is your best advice for preparing physically for surgery? To prepare physically for surgery, an individual should stay at least as active as he or she was prior to scheduling the surgery. For example, if you were previously active outside with regular walking or jogging, you should continue those activities. This is not a time to begin vigorous exercise for those who were not active before, but implementing a moderate exercise routine can be bene fi cial. For example, work

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PURSUING A CAREER WHILE LIVING WITH MARFAN

Navigating college and a budding career can be an uncertain and scary undertaking for most young adults. For those with Marfan syndrome and related conditions, such feelings and concerns can be exacerbated. For one member of the Marfan community, Allegra Delgardo, these challenges have not stood in the way of her aspirations to become a nurse. Choosing a Career Deciding how to best choose a career while living with Marfan syndrome is di ff erent for each person. Allegra o ff ered advice for those with Marfan who want to start a career but may be apprehensive or uncertain. “Take the time you need, and get as far as you can,” she said. “If you need to stop, that’s okay, but don’t be scared to start because you don’t know what you are missing out on. With nursing and many health professions, it can be hard on your body and mind, but you can do so many di ff erent things. I say go for it!” Allegra knows from personal experience that people

p Allegra with her new fi ancé, Travis Rourk.

works for 12 hours, and she can be required to work multiple shifts, but she is fi guring out ways to make the workplace better for her. At 6’3” with hip, knee, and lower back issues, Allegra has needed to make adjustments at work. She recom

with Marfan can feel fi ne one day, and then their bodies can turn on them the next, creating a frightening experience. It can be a risk to invest time, money, and mental energy into a career and then face the possibility of not being able to do it. But on the other hand, she advises not leaving a goal unful fi lled because you have Marfan syndrome. “If you know that is what you want to do with your life with the time you have

mends taking charge and asking for accom modations. For example, she requested a weight restriction for lifting and carrying, which the hospital accommodated. She also has made other adjustments on her own. “I have a long torso, so I can lower my chair and raise my monitor. The little changes make a world of di ff erence,” she said. “I also asked a co-worker to remind me to raise the bed when doing patient care. It saves me every day, just getting that nudge from other

“I owe it to myself to explore my passions...Don't let fear hold you back from anything in life.”

here, no matter how long that is, do it, “she encouraged. “I owe it to myself to explore my passions. And yes, it hurts. It’s hard on my body, but I can heal, and if I need to make adjustments, I will. Don’t let fear hold you back from anything in life.” One regret Allegra had was shaming herself in nursing school for not being able to do everything others were doing. While fellow students were fi lling their resumes with internships, externships, volunteering, committees, nursing teams, etc., Allegra could not physically or mentally add these to her schedule. She would question if she was doing enough by not taking advantage of all the opportunities. “Now in my career, it does not matter because I’ve learned it all on the job,” she says. “If you can do those things, great, but don’t put yourself down. I wish

people to help me remember.” Allegra isn’t worried about her career in the future. Knowing there are many options with a nursing degree, she can modify her career path if needed. For now, she is focused on completing her nursing residency, taking care of her body and mind, and looking forward to the Allegra enjoys learning about her patients, talking with them, and hearing their stories. Living with Marfan syndrome, she has an instant connection and can empathize with her patients on a personal level. With a mostly invisible illness, her patients are surprised to learn of her chronic condition. “When they say they have so much pain and that I don’t know what they are going through, I can look them in the eyes and say ‘Yes I do,’” Allegra explains. “If they want to know more, I will tell them about my open heart surgery and the e ff ects Marfan has on my body. They fi nd strength in my story. I will never stop talking about Marfan syndrome. It’s so worth it to me.” opportunities she can create for herself. Unique Connection with Patients

someone would have told me that.” Make the Career Work for You

Allegra admits being nervous to see how her body would react to the demands of being on her feet and performing for long periods of time. Most days she

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Spring 2022

THREE LEADING RESEARCHERS ADDED TO SCIENTIFIC ADVISORY BOARD

The Marfan Foundation is proud to announce the appointment of three leading researchers to its Scienti fi c Advisory Board (SAB): Suneel Apte, MBBS, DPhil, Cleveland Clinic; Daniel Rifkin, PhD, NYU Grossman School of Medicine; and David W. Dempster, PhD, Columbia University (NY). The Scienti fi c Advisory Board is responsible for monitoring, assessing, and evaluating the e ff ectiveness of the Foundation's research program. “We are delighted to have distinguished scientists like Drs. Apte, Dempster, and Rifkin join the talented team on the SAB,” stated SAB chair Craig T. Basson, MD, PhD. “They bring unique expertise in eye, bone, and connective tissue biology to bear on the Foundation’s e ff orts to improve the lives of individuals with Marfan and related conditions.”

p Suneel Apte, MBBS, DPhil

p David W. Dempster PhD

The Foundation would also like to express gratitude to the outgoing board members, B. Timothy Baxter, MD, University of Nebraska and John A. Elefteriades, MD, Yale University, for their many years of service and invaluable contributions. The complete list of Scienti fi c Advisory Board members can be found on our website.

p Daniel Rifkin, PhD

an inspirational and complicated journey from Nigeria to the United States so Marie Curie could undergo life saving surgery at Barnes-Jewish Hospital, where Dr. Braverman is the director of the Marfan Syndrome Clinic and Center for Thoracic Aortic Disease. Lifetime Achievement Award Dr. Kouchoukos, the evening’s honoree, had a vast career that spanned 40 years at Washington University School of Medicine, Jewish Hospital of St. Louis, and Missouri Baptist Hospital. During that time, he performed

The Foundation was thrilled to be back in St. Louis in March for the 13 th Annual HeartWorks St. Louis gala. Thanks to the tremendous work of hosts Dr. Alan and

more than 13,000 cardiac and major vascular procedures and advocated for training the next generation of cardiothoracic surgeons. One of Dr. Kouchoukos’ greatest achievements was the development of the modi fi ed Bentall procedure, which uses a composite aortic graft to replace the ascending aorta and aortic valve, changing the landscape of aortic surgery. He is also a co-author of the most recent editions of Cardiac Surgery , a

Rebecca Braverman and the gala committee, this year’s HeartWorks St. Louis was the most successful to date, raising a record $461,000 for the Foundation’s programs and services. For the fi fth year, the Centene Corporation, through the Centene Charitable Foundation, was the event's major supporter. More than 300 people from the local medical and business community, as well as members of the Marfan, Loeys-Dietz, and

p Heartworks honoree Dr. Nicholas Kouchoukos with his wife, Judith, and event hosts, Dr. Alan and Rebecca Braverman.

textbook on adult and pediatric cardiothoracic surgery that is widely used in cardiovascular surgical centers around the world. To view all upcoming events, visit the calendar at Marfan.org.

VEDS communities, were in attendance as we honored Dr. Nicholas T. Kouchoukos with the 2022 Lifetime Achievement Award. They also watched the incredible story of Samuel and Harriet Uzoechi and their daughter, Marie Curie, who has Marfan syndrome. The family had

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Marfan.org

LIVING WITH RISK By Ennis Rook Bashe

Some people believe that all problems can be whisked away with positive thinking. For people with a connective tissue condition, it’s important to recognize that putting on a happy face won’t magically restore your health. However, you can ask yourself, “How helpful is this thought? How helpful is this fear? Is it helping me to make good choices or is it just bringing me down?” • Take care of yourself. Many habits are important to both mental and physical health, such as getting rest, eating fruits and vegetables, and going outside. • Be open to seeking professional help. Sometimes issues are too big to handle alone, and talking about things with a professional can increase your quality of life. Children and Teens Ms. MountainJohnson also touched on the unique risk management needs of children and teens with Marfan,

When you feel like your body is a ticking time bomb, how do you defuse your anxiety and fi nd peace of mind? Living with the possibility of a health emergency can have a negative impact on your mental health. This issue was the focus of a recent Foundation webinar that featured Karen MountainJohnson, MA, LPCC, a clinical supervisor and mental health professional at CARE Counseling in Minneapolis, MN. In addition to her professional expertise, Ms. MountainJohnson has VEDS; her two sons have VEDS as well. Having an Emotional Response is Normal Ms. MountainJohnson wants people in the Marfan syndrome and related conditions community to know that having an emotional response to the di ffi culties of a chronic illness is completely normal. Although there is limited research available, preliminary studies suggest that a high percentage of individuals with a connective tissue condition also present with mental health concerns including anxiety, depression, and/or post-traumatic stress disorder. Identifying the Role of Risk Ms. MountainJohnson explained that awareness of risk is valuable because it promotes safety and empowers decision making. However, it’s also possible to be overly aware and concerned to the point that you have increased anxiety and fear and avoid being active, decreasing your quality of life and missing out on new experiences. “The ideal balance involves avoiding high-risk activities while enjoying low-to-moderate risk activities and taking care of both your physical and emotional wellness,” said Ms. MountainJohnson. “I hope people in the community will be able to attend to risk in a way that’s meaningful and empowering without having it take over their lives.” Tips for Improving Your Mental Health Ms. MountainJohnson provided several tips for our community. • Find support and validation . This is important in many parts of your life, from friends and family to medical practitioners. Finding a team of people who will help you advocate for yourself can go a long way. • Educate yourself. Learn about the risks for your condition and how can you be prepared. Then decide what amount of risk you are ok with. • Practice acceptance and grounding. Think about what can you fi nd to feel positively about in the present moment. • Recognize and challenge unhelpful thoughts.

Loeys-Dietz, and VEDS. She emphasized providing developmentally appropriate information to young people and answering their questions as honestly as possible without scaring them. Let them know that being aware of risk helps with making good, safe choices, and help them fi nd low-to moderate risk physical activities that they can enjoy long term. A consideration she is also aware of from her own journey with VEDS is the importance

“No matter your age, your feelings are valid, and you’re not alone.”

of building positive healthcare experiences. Children may have negative healthcare experiences that create feelings of fear and helplessness. Ms. MountainJohnson stresses the importance of allowing children and teens the opportunity to talk with doctors and nurses who are there to help. This will increase trust and long-term resilience. She also recommends practicing calming and relaxation skills and creating connections with others with the same diagnosis. “It’s important for people to know that everyone’s feelings are di ff erent,” said Ms. MountainJohnson. “Both children and adults can have a wide range of reactions to living with risk. No matter your age, your feelings are valid, and you’re not alone.” To watch the webinar featuring Ms. MountainJohnson, search Living with Risk on The Marfan Foundation's YouTube channel.

Ennis Rook Bashe is a graduate student in their fi nal year at New York University’s Silver School of Social Work who is currently interning with The Marfan Foundation. They live with hypermobile Ehlers-Danlos syndrome and a very loud cat.

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Spring 2022

for Kids and Families Returns Camp VICTORY

The Foundation is delighted to bring back Camp Victory for Kids and Camp Victory for Families in person this summer and fall. Kids’ and family camps are set in Georgia, and we’ve added a kids’ and family camp in Ohio for the first time ever. Our expanded camp program gives community members from all over the country more opportunities for a camp experience that is safe for kids with Marfan, Loeys-Dietz, and VEDS. Why Attend Camp Victory? Participation in Camp Victory provides invaluable benefits to kids with connective tissue conditions – increased independence, self-confidence, acceptance, connection, and friendship. Skill-building, personal development, and growth are other tangible benefits campers receive. All participants, young and old, with or without a disability, will benefit from meeting others with whom they can truly relate, often leading to lasting friendships and expanded ongoing circles of support. In addition to trained camp sta ff and volunteers, each camp will have an on site social worker o ff ering support and

programming and a nurse familiar with connective tissue conditions

assisting with medication management and other health-related matters. Strict COVID protocols will be followed, and camps are subject to change pending pandemic status and local, state, and federal regulations. Camp Victory in 2022 July 24-29

p Camp Director, Andrea Friedman, MSW, with her son, Alex

Camp Twin Lakes - GA Camp Victory for Kids

August 7-12 Sept. 23-25

Camp Joy - OH

Camp Victory for Kids

Camp Twin Lakes - GA Camp Victory for Families

Sept. 30-Oct. 2 Camp Joy - OH Camp Victory for Families Check registration information and details at Marfan.org/get-involved/ community/marfan-camps . Or, for more information about a camp near you, please contact Andrea Friedman, MSW, Client Services Manager, at afriedman@marfan.org or (516) 464-8891. Space at all camps is limited and registration is available on a first-come, first served basis. A Note from Our Camp Director, Andrea Friedman, MSW: I'm thrilled to be serving as the Camp Director for Camp Victory for Kids and Camp Victory for Families in 2022! In my experience working with children and families, the ability to bring people together who share commonalities provides an invaluable opportunity for validation and acceptance. With participation in fun camp activities together in a supportive environment, parents, guardians, and children are in for an incredible, life-changing experience! Whether you are a returning camper from prior years or joining us for the first time, I'm looking forward to meeting everyone this summer.

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Marfan.org

THE MOVEMENT SECURES FUNDING FOR EMERGENCY AWARENESS PROJECT

The VEDS Movement is excited to have secured a major donation from Dr. Ierachmiel Daskal and the Daskal Family Foundation to enhance awareness of VEDS in hospital emergency departments. The donation will fund a campaign to encourage medical professionals to complete a VEDS CME course as well as provide complimentary medical alert bracelets for people with VEDS. “Because people a ff ected by VEDS have such a subtle phenotype and the condition is so rare, most providers are not aware of the very high risk of aortic and arterial dissection and rupture and organ rupture,” stated Shaine Morris, MD, a member of The VEDS Movement’s Professional Advisory Board. “It is essential that providers recognize the critical nature of a VEDS diagnosis and the need for a high level of suspicion of anyone with VEDS coming to the emergency room for a potentially lethal event. Rapid assessment and cross-sectional imaging are often indicated.” Dr. Daskal, a retired pathologist, has a personal interest in VEDS, and his passion for in fl uencing the VEDS emergency room awareness project started when he was invited to a board meeting for a pharmaceutical company working in VEDS. “I heard three stories from people about their own personal tragedies in their encounters with emergency room sta ff that ended with catastrophic

Join The VEDS Movement in supporting REDS4VEDS, a global campaign which takes place on the third Friday of May each year. The aim of the campaign is to help raise the pro fi le of Vascular Ehlers-Danlos Syndrome (VEDS), a rare life limiting genetic disorder. It’s free and easy to get involved with REDS4VEDS: • Wear Red • Take a photo • Share on your socials #REDS4VEDS For more information on this campaign, visit Reds4VEDS.org. WEAR RED ON FRIDAY, MAY 20! sta ff in an emergency. If you are in need of a VEDS medical ID bracelet, please request on the website, TheVEDSMovement.org . If you’d like to support the education and awareness e ff orts of The VEDS Movement, please visit TheVEDSMovement.org/donate . outcomes,” Dr. Daskal said. “I was fi lled simultaneously with tremendous empathy and frustration about this happening over and over again to people with VEDS and decided I must do something about it.” Educating Emergency Medicine Clinicians The VEDS Movement and its Professional Advisory Board, along with The Sullivan Group, created a VEDS Continuing Medical Education (CME) course for medical professionals, speci fi cally targeting emergency physicians, nurses, and advanced practice clinicians. The course is available under the Resources tab on our website. Supplying Medical IDs to Save Lives The Daskal Family Foundation’s donation will also fund free medical IDs for people with VEDS through The VEDS Movement website. People with VEDS are at a high risk of life-threatening complications like arterial ruptures and dissections, organ ruptures, carotid-cavernous sinus fi stula, and lung collapse. A wearable medical ID is an important tool in helping communicate these risks to fi rst responders and medical

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Spring 2022

“MEDICINE IS NOT A SPECTATOR SPORT”

By Ashwin Palaniappan If you have a family member with Marfan, Loeys-Dietz, or VEDS, you know that hospital stays are likely to be part of your life. And that means not only visiting your loved one, but also advocating for them. Jim Young of Atlanta, GA, is well-versed in this area. His 25-year-old daughter, Heather, has had more than 15 surgeries and spent more than 120 days in the ICU. Most recently, she was at Duke University Hospital where she had her third open heart surgery, second extended ICU stay, and 20th in-patient procedure. According to Jim, the patient’s family and loved ones play an important role in the medical process. By empowering themselves to participate rather than passively watch from the sidelines, they can make a big di ff erence in achieving a positive outcome. In other words, “medicine is not a spectator sport” and, because of his experience, he wanted to share his insights and advice with our community. ★ Adopt an analytical, concise communication style that mimics the physicians providing care, so that you can maximize the information received. People with Marfan, LDS, and VEDS receive care from several physicians and, in the process, patients and families may have more questions than time they have with providers. In the process of getting answers, the Young family found the greatest success when they adopted a communication style similar to the healthcare providers. Being on the same wavelength as physicians, the Young family experienced better engagement. ★ Consciously direct your questions to the relevant and appropriate members of the clinical care team. Jim found di ff erent questions were better directed to di ff erent members of the clinical care team. For instance, his daughter’s cardiothoracic surgeon would receive di ff erent questions than his daughter’s critical care physicians. By consciously diverting questions to speci fi c physicians, they were able to gain comprehensive answers from the speci fi c providers without overburdening a particular provider. This active participation is part of Jim’s belief that “the family should empower themselves with the right to know.” ★ Expand your team if you are juggling with a full-time job or other commitments. The Young family felt strongly about having at least one member of their family in the hospital with their daughter. This allowed them to observe and communicate aspects of their daughter’s health to her providers. This also translated into them being involved with the rounding team and hearing fi rst-hand the plan of care for the day. For families unable to have a

member stay with their loved one in the hospital, the Young family recommends expanding their support teams. ★ Have members of your care team be interchangeable by consistently updating each other on clinical updates. Members of Jim’s family would continuously update each other so that all family members were in the loop and understood new developments and plans of care. This allows providers to be able to communicate updates and developments to multiple members of the support team and not be limited to one individual. ★ Act as the bridge between di ff erent disciplines, and be the connector between

p Jim and Heather’s team was among the top fundraisers at the Atlanta Walk for Victory in April.

di ff erent specialties. Jim stresses the role of the family in acting as the bridge between the di ff erent specialties. For instance, a patient who receives care from a cardiologist and ophthalmologist would bene fi t from family members being aware of the treatment plans outlined by the di ff erent specialties because they can reinforce the thoughts of another specialist who is not present when a care plan is being outlined. ★ Provide observational data, but try not to evaluate the data prior to presenting it to the providers. Jim has done his fair share of waiting in hospitals, but has learned there is so much more the family can do. By being actively present in the loved one’s care, a family member will be able to see the e ff ects of treatments and interventions and can communicate this to providers. The Young family found providers most receptive to this extra source of information when they presented this observational data at face value without evaluating it themselves. Trusting the providers to interpret the data the family members provide is part of the approach the Young family took to ensure the most optimal care for their daughter. Jim's take home message: The goal is to give your loved one the most emotional and mental security possible. When developing your care team, realize that it is not a one-size fi ts all. It is a one-size fi ts-one approach; take time to identify the arrangements that work best for your family and the framework that supports your loved one the most. “A family can advocate, they can participate, they can support, and, in doing so, they will make a di ff erence,” says Jim. “Whether it’s a family, partners, or friends, the active involvement of the patient’s support team can be the crucial key to a successful outcome.”

Ashwin Palaniappan is a medical student at Brown University's Warren Alpert Medical School.

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May 5, with guests enjoying cocktails, dinner, dancing, and a silent auction. “The purpose of Evening with Heart is to raise funds for the much needed research, resources, and support the Foundation provides,” said Courtney. “We hope it becomes an annual staple on the community’s calendar p Pictured Left: Alan Stolz receives the Heart of the Matter Award at the 35 th Marfan Conference in Houston. Right: Courtney (front, center) with her NC Walk for Victory team. COMMITTEE MEMBERS SHINE Alan Stoltz became involved with the Foundation in 2003 when he was the Division Administrator for Cardiothoracic Surgery at Baylor College of Medicine in Houston. In 2021, Alan volunteered to be on the committee for the inaugural HeartWorks Houston gala, which was held at The Four Seasons in June 2021. “I was happy to give my time and help as a vendor liaison to assist with fundraising,” said Alan. “The event raised over $215,000 for the Foundation.” In addition to the study and HeartWorks, Alan has participated in annual conferences, playing a key role when his institution was conference host. He has also participated in many Walk for Victory events in Houston. To view all events hosted by the Foundation, visit the calendar at Marfan.org/events. If you are located in one of the host cities and interested in volunteering on a committee, please contact Alyssa Aiello at aaiello@marfan.org. and can continue to grow each year.” Alan Stoltz, HeartWorks Houston

Anyone who has been to a HeartWorks gala or an Evening with Heart has felt the warmth, support, and hope that these special nights provide. These events provide critical funding for the Foundation’s programs and services. Since the fi rst gala was created in New York, HeartWorks and Evening with Heart have expanded nationwide, with events taking place in Chicago, St. Louis, Houston, Raleigh, and New York City. The key to each event is the volunteer committee, which consists of members of our community in that region. These volunteers spend months meeting and planning all details with our event sta ff – including securing sponsorships and fabulous auction prizes and inviting friends – to ensure a successful fundraiser. The Foundation is grateful to all committee members who give their time and expertise to support our special events that help advance our mission. Here’s an opportunity to meet two of our volunteer committee members. Courtney Jensen, Evening with Heart Raleigh Courtney has a personal and professional connection with Loeys-Dietz syndrome. She was diagnosed with the condition in 2005. She also works in the medical genetics community and has patients a ff ected with LDS, Marfan, and related disorders. “We had so many of our friends reach out and take interest in our local Walk for Victory,” said Courtney. “My husband and I saw an opportunity to get people excited and increase their giving and involvement with a night out and an excuse to get dressed up. So the idea of Evening with Heart Raleigh was born.” Courtney and her husband, Josh, spent a year planning with their committee and Foundation’s events team. Though delayed by the pandemic, it was held on

13

Spring 2022

REGISTRATION IS OPEN SCIENCE IN Paris

The Marfan Foundation is honored to bring together researchers and clinicians from all over the world who are focused on genetic aortic and vascular conditions for Science in Paris , August 29-September 1, 2022, at Le Méridien Etoile. The goal is to enhance collaboration and discovery to bene fi t patients and families. This four-day event features three separate, but connected, scienti fi c meetings and poster sessions. August 29, 2022 DEFY Foundation 5 th Scienti fi c Meeting and Poster Session on Vascular Ehlers-Danlos Syndrome (VEDS)

Second International Patient Meeting, What’s New in Genetic Aortic and Vascular Conditions, is Set for August 28, 2022, in Paris Prior to the scienti fi c meetings, the Foundation is hosting an international meeting for people living with Marfan, LDS, and VEDS, and their family members. The one-day meeting will take place on Sunday, August 28 also at the Le Méridien Etoile. What’s New in Genetic Aortic and Vascular Conditions features leading medical experts from the US and Europe who will cover diagnosis, medical and surgical treatments, and genetics. Speakers con fi rmed are Dr. Juan Bowen, Mayo Clinic, Dr. Alan Braverman, Washington University in St. Louis, Dr. Kim Eagle, University of Michigan, Dr. Scott LeMaire, Baylor St. Luke’s, Dr. Hal Dietz, Johns Hopkins, Dr. Bart Loeys, University of Antwerp (Belgium), and Dr. Shaine Morris, Texas Children’s Hospital. For more information, please visit Marfan.org/calendar/international-patient symposium .

August 30-31, 2022 11 th International Symposium on Marfan, Loeys-Dietz, and Related Conditions

September 1, 2022 7 th GenTAC Aortic Summit

“Science in Paris expands the Foundation’s ongoing commitment to serving the international community through science, research, education, and collaboration,” said Josephine Grima, PhD, the Foundation’s Chief Science O ffi cer. “We invite researchers and clinicians in all disciplines to attend and look forward to innovative discourse that will lead to breakthroughs to enhance patient care.”

Please visit Marfan.org/ScienceinParis for more information and registration details.

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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 December 4, 2021 – March 31, 2022. These donations support our programs and services that create a brighter future for all those living with Marfan, Loeys-Dietz, VEDS, and related conditions. Donations to Walk for Victory are not included.

Donations In Honor Of Nathan Adolf John Aimo Randie Alf Cameron Allen Athena Ambrecht David Allen Anderson Lauren Atherton Pierre Audrey Addie Baggett Joe Bailey Jr and Family Maren Bain

Kim Huddleston David Hufnagle Scott Hunefeld Thu Huynh Patricia Igoe Christian Je ff ries Gail Jehan Sydney Jenkins Alix McLean Jennings Cassie Jennings Renee Jessup Kerry Johnson William Johnson Jerrod Jung Catherine Kashmer Mike Kasper Caryn Kau ff man Melissa Keller

John Pumilia Dr. Reed Pyeritz Guidry Ramoin Joaquin Ramos Jr River Reiner Regan Remulla Fred Richardson James Richardson Ayden Riggs

Kevin Cookson Richard Coren Callie Cornely Kelly Cosman Blaise Dafoe Antoinette D’Agostino Harald Dahms Rita C. Dean John deBlecourt Debbie Delava J. Doehring Angelina Dolge

Mimi McDonald Patrick McGraw Maria Ysabel Mesa Connor Metz Mark Michrina Lebron Miles Sue Ann Miller Huck Moore Andrew Morrell Emerik Strock Moser

Peter Roos Sophia Roy

Frank Mundt Fred Murray Joe Neustadt Richard, Norma, and David Makano ff

Fernanda Sacramento Evan Sadler, MD, PhD Michael Shaw Val Sobecki Princess So fi a Maria Dan Sperry Christopher Springer Leo Strangstalien Justin Streat Christopher Stuart Riley Styers Keeva Sullivan Cameron Sweeting

Karen Dragon Kelsey Dresser Steven Durrett Anna Ellis

Caroline Bange Caterina Bartha Rochelle Bass Bergstrom Family Sherry Berkebile

Michael Nygaard Sharon O'Malley Daniel Pacheco Sidne Paisley

Michael Enbar Peggy Encinia Danielle Escarcega Beverly Feinstein Bryan Funk Joseph Gagliano, Jr. Matthew Garcia Oliver Amir Garcia

Rachel Berndt Michael Blake Kaiden Blevins Elliott Bobbe

Emmorith King Jonathan Kirch Kozel Family Nicole Kramer Audrey Krocker Kevin Kroeker Rebecca Kryger

Hunter John Paproski Christopher Paulsen Stephen Perel Alan Pinkerton Ginger A. Preiss Wilbur E. Pridgen Jackie Prindle Carol Puleo Zoltan Racz Sarai Reece Ann Reinking Tom Reis Danielle Richardson Andrew Rigney Daniel Rigney

Leon Boghossian Caroline Bombach Sebastian Brady Dr. Alan and Becky Braverman Pauline Brehmer Beth Brobst Michelle Bruntz Bettie Burch fi eld Kathy Butvick Erik and Allison Cabetas Emilio Castillo Scouty-lion Meow Cauley Dr. Kak-Chen Chan Leo Cole DJ Paul Lewis Cooper Sofía María de la Garza Dr. Richard Devereux James Dickey Jamison and Henry Doehring Haley Dostalik Ella Earnhardt Garbriella Earnhart Cory Eaves Callie Efurd Peggy Encina Sarah Epperson Alfredo Escarcega Mary Farah Feinstein Family Dr. Victor Ferrari Amy Flanagan Maia Fleener Dr. David Ford Ángela Garcia Gabriela Galván Geraldine Giorno Dr. Leonard Girardi Wyatt Goldman Amy Grimshaw Jack Guglielmo Hadley Gunn Dr. Creasie Hairston Stella Hall Jordan Hannan Jennifer Harms Miriya Healing Shawn Heldt Hemker Family Rocco Hermogenes Shawn Herron Lincoln Hervatin Michelle Hesselbach William Holman John Horan Beckett Hotchkiss Sam Howell and Family Brad & Marybeth Greene Scott Griebel and Family Ti ff any Cooper Kelly Cosman Greta Curry Vickie Dalton Darby Davenport Cooper Davidson

Jordan and Drew Swersky Danyel and Matthew Tacker Angie Taylor Angsbratz Taylor Henry Tays Jeremias Tays Nick Teune Samantha Thomas Reagan Thrower Emma Claire Tillman

Ravi Garg Justin Gee Rocco Gibaldi Matthew Glennon Charles Golden Rachel Goodman Paul Leslie Goodwin Jr and Sr Michael Gottstein

Ben Kuehn Foxy Kusin

Haley Langford Miyla Langshaw Judy Lavely Alexa Lawrence Dr. Shoshana Leeder Matthew Lenhart Jerry and Judi Lerman Sydney Lerman Luci Leutkemeyer Robert and Barbara Levy Preston & Simon Li Sinclair Li Dr. David Liang Josh Lim Little Bear Gretchen MacCarrick Lulu Butvick Maher Makano ff Family

Chanel Green Andrew Gross Gussow Family Judith Hak Frances Hanes Howard Harlow Jane Harris Shelly Hartman Paul Hartmann Laura Hautmann Larry Hawkins Shelby Hawkins Christine Hawley Fred Hearn Hugo Ho ff mann Luke Hoskings David Hufnagle Dwight Hurst Barry Ilberman Eileen Ilberman Gloria Ilberman Ann Jarosz Michael Jensen Vickie Johnson William Johnson Michael Jordan Richard D. Heim Shawn Eric Heldt Jean Higa Norman Hirschkowitz Jerrod Jung Frank Keith John Walter Kidd Melinda Klotz Glenda Knightstep Margaret McCabe Kristl Julie Kurnitz Mitchell Kyllonen Jr. James "Ron" Laccabue Kamden Langford Jonathan Larson Alexa Lawrence Lisabeth Little Alex Diego Lovato James Ludwig Rudolph "Rudy" Luna

Kelly Toohey Marit Toombs Mike Tozzi Kiara Updike Sam Vallier Thomas Villanueva Monique Voorn Michael Weamer Francesca Weaver Jordan Wiener Denise Winter Bill Winters Shean Wu Emilio and Xaeed MJ Yang

Brock Robertson Tamra Robertson Maryann Roney Michael Anthony Rosales Audrey Rothwell Marilyn, David, and Carol Ruth, Michelle Schober Jerry Schultz Donald Schuppenhauer Phil Schurr Spencer Sellas Jeremy Semano ff George Sheehan Logan Siciliano Ama Siegel Prerna Sikand Eric Slater Danielle Sommer-Weston Charles Spitler Margaret Stolle Mark and Edward Stone Bridget Sweet Michelle and Bodhi Swindle John Szarkowski Jan Szklarz Tommy Tant Greyson Templeton Lauren Ovelgonne Tenney

Gavin Marcus Isabella Marin Grant Martin Eileen Masciale Peyton Matthews Maulhardt Family Jimmy Mayer Bert Medina Cannon Medina Ellen Meiner Connor Metz Charlene Meyers Milburn Family Dr. Craig Miller Claire Moore

Char Yang-Lu Heather Young Cynthia Zarate Zerlaut Family Donations In Memory Of Roy Abbott Carol, Adrian, and Elias Adame Emerson Avery, Jr. Jeanna Brown Ayers Ramon Badillo Ellen Baker

Madeline Moore Madeline Morris Rosalie Morris Christopher Morrison So fi a Motta

Michael Bartelt Rochelle Bass Marilyn Batterman Howard Batts Walter Beck John Berger Shane Berger Je ff rey Berkowitz Michael Blake Charlene Bordelon

Timothy Terzich Kevin Thrasher

Kelly Noreen Toohey Thomas W. Toothman Larry Torode Michael "Mikey" Tozzi Deland Ujano Richard Van Allen Jennifer Volpe

Jordan Nailer Peyton Nealey Dr. Enid Neptune Phil Newsome Noonday Collection Hostesses & Customers Dr. Nicholas Kouchoukos Carole Nowak Christian Obregon Florence Hurley O'Sullivan Ryan O'Sullivan Daniel Miriti Pacheco

Carol Brennan Bonnie Brown

Ray Walsh Rita Ward Laura Wascha

Jennifer Bu ff one Bettie Burch fi eld Jerry L. Butler and George H. Butler Gabrielle Cannistraci John Cardillo Sarah Cayo Brooke Chapman

Francis Wegmann Jr Jessica Westmoreland Danielle Weston Lisa Wiegner David M. Willson and David L. Willson Loralee "Lori" Wilson Denise Winter Stephen G. and Steven R. Yakimovich

Peyton Parker Nishani Patel Dr. Paul Sponseller Jodi Pentecost Daniel Peters Mark and Cindy Peters Cullen Petrella Cameron Ponton

Robert Manual Matthew Marsh Brendan Hubert Martin Albert Matsuura Heather Maytanes-Anderson Scout McCauley Troy V. McDaniel Jr

Aileen Cheng Eileen Cieslick

Rita Connaughton Alexander Connor

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Spring 2022