Connect Issues Fall 2020

Fall 2020

INTERNATIONAL E 3 SUMMIT

HOPE IN MARFAN RESEARCH

AORTIC DISEASE AWARENESS

AN EXCITING TIME IN THE LIFE OF THE FOUNDATION

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

I hope you will take a moment and read Huck’s Legacy in this issue, as he represented the very best of individuals with Marfan syndrome and related conditions, because he was a fighter from the moment he was born until his untimely passing. Like Huck, Elijah Williams, on our cover, is also a fighter. He had his first Marfan-related heart surgery at age 17 and, like so many others, has had our community with him all along the way!

Many would suggest today is the most exciting time in the history of the Foundation and, while COVID-19 required us to immediately pivot to protect and inform our community, we have never been stronger. In the past year, we established the VEDS Movement and welcomed the Loeys-Dietz Syndrome Foundation as a new division. On October 1, the GenTAC Alliance joined our family and we powered the GenTAC Aortic Summit earlier this month. Finally, this summer, we held the truly amazing International E 3 Summit in partnership with our friends at VASCERN. In this issue we also celebrate the retirement of Dr. Reed Pyeritz, a founder of The Marfan Foundation. Reed and his wife, Jane, have been remarkable supporters of the Foundation and our patient community, and we wish them good health and good fortune as they enter this exciting new chapter of their life. Thank you for being part of our Fight for Victory ! With your continued support, our journey is just beginning and many victories are on the horizon. To the better days ahead,

Learn more and get involved at Marfan.org.

CONNECTIVE ISSUES Fall 2020 VOLUME 39 | NUMBER 3 Connective Issues is the newsletter of The Marfan Foundation. It is published three times per year.

Michael L. Weamer President & CEO

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.

ON THE COVER: Elijah Williams had his first Marfan- related heart surgery at age 17. Eight years later, he’s had four total heart surgeries. See Elijah’s full story on his Instagram (@publicenemy1_) or on our blog. Some of our community-generated feedback to help him balance physical and mental recovery from Marfan-related surgeries can be found on page 13.

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

SPONSORS Presenting

Powered by The Marfan Foundation and VASCERN

q Summit sessions featured medical experts as well as members of our community giving a personal perspective. For example, this session on aortic surgery featured Dr. Chris Malaisrie, Northwestern Medicine (top), Dr. Maral Ouzounian, MD, Toronto General Hospital, and Bill Barnhart, of Virginia, who has Marfan. More on the next page. I still am in awe that I was able to hear from such world-renowned experts. Thank you so much for this opportunity. I now don't feel like such a tiny grain of sand swallowed up by the beach. My condition matters and there is hope. Feedback from Our Community Whether you or a loved one is affected by a connective condition or you are awaiting a diagnosis or even if you are a medical professional, there is so, so much to be learned about surgical and medical interventions, genetic therapies, quality of life concerns, etc. Involvement in the Summit left me with a renewed sense of hope for those whose physical, mental, and emotional well-being is affected by a connective tissue condition. Absolutely amazing and resourceful event. I can't thank you enough for this opportunity. My journey so far has been all over the place. I now have better tools to help my medical professionals assist me because they are obviously in the dark about Marfan. I have more knowledge now because of your devotion to this advocating. Thank you from the bottom of my special heart! Hugs and love to all of you! I thought I had a moderate amount of understanding. Now I realize how little I knew. Plus, there have been a lot of new treatments since my daughter was diagnosed 30 years ago. Knowledge is power and I want to keep up for her sake and my grandson. INTERNATIONAL E 3 SUMMIT

Empower

Enrich

Educate

p Dawn Ockstadt’s cat watched with her from Orlando, FL.

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The International E 3 Summit was truly a global event as one-third of the 2,800 registrants was from outside of the US. These E 3 participants were from 75 countries, with the UK leading the way with 163. The rest of the top ten were (in order) Canada, Australia, Spain, Mexico, Italy, The Netherlands, Ireland, Belgium, and German. Speakers came from all over the world too: Italy, Spain, Germany, Belgium, The Netherlands, Canada, and the UK, as well as the US. Presentations were given in seven languages – English, E 3 SUMMIT IS TRULY INTERNATIONAL “This, in our view, demonstrates the incredible benefits of international events that unite Europe and the USA, specifically for rare conditions…” incredible benefits of international events that unite Europe and the USA, specifically for rare conditions such as Marfan syndrome for which expertise is

Spanish, French, Italian, German, Dutch, and Russian – making it possible for most attendees to learn from the experts in their first language. This international representation was due, in large part, to the incredible partnership between The Marfan Foundation and VASCERN. The two organizations

so rare. We believe that taking advantage of online platforms to provide educational content and awareness is a great benefit for the Marfan syndrome and related conditions community. We look forward to co-organizing another event in the future.” Diana Maas, of Amsterdam and a member of the Dutch Marfan Association who has Marfan, agreed on the value of the online delivery of information. She said, “How wonderful that we have the possibility of watching presentations online rather than attending live. And it was very easy to connect

have a history of collaborating for international research events. This is the largest joint project surrounding patient education and support. “All of us at VASCERN were thrilled to partner with The Marfan Foundation and help make the International E 3 Summit a great success,” said Guillaume Jondeau, MD, PhD, professor of cardiology at Bischat Hospital, France, and the coordinator of VASCERN. “This, in our view, demonstrates the

p Guillaume Jondeau, MD, PhD, professor of cardiology at Bischat Hospital, France, and the coordinator of VASCERN.

with others through the app. I met people whom I never would've been connected to otherwise.” Watch for more international programming in the future.

u 54 Medical Sessions u 16 Quality of Life Sessions u 70 Total Presentations u 2,840 REGISTRANTS u Participants came from 75 COUNTRIES u 373 PROFESSIONALS in attendance u TOP REASON FOR ATTENDING: For 89% of attendees, the top reason for attending E 3 was Medical Information. Second most common choice was Access to Experts at 10%. u 7 Languages u 95 Presenters

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AORTIC DISEASE AWARENESS WEEK

Powered by The Marfan Foundation

SEPTEMBER 19-26, 2020

This year, Aortic Disease Awareness Week was expanded from Aortic Disease Awareness Day to put an enhanced focus on this potentially life-threatening condition. While the passion of the medical community and patient community remains the same, the initiative had a different look this year due to the pandemic. Rather than in-person meet-ups this year, patient support was virtual. Instead of grand rounds and in-hospital medical education events, online learning was the focus. And social media continued to take center stage as in-person events were mostly eliminated due to the pandemic. Events were held around the world – in the US, Canada, Germany, New Zealand, Sweden, Indonesia, France, and more. Here are some highlights. • The Marfan Foundation held its successful social media campaign, showcasing people in the worldwide community of those with Marfan, Loeys-Dietz, VEDS, and related conditions raising their hands to raise awareness of the risk factors for aortic disease. Additionally, the Foundation launched a medical education video on the diagnosis and treatment of aortic dissection in the ER, presented by Dr. Alan Braverman, Alumni Endowed Professor in Cardiovascular Diseases and Professor of Medicine, Washington University School of Medicine, and a member of the Foundation’s Professional Advisory Board and Board of Directors. • SOS Aorte (France) launched new patient educational materials that were added to the organization’s basic information toolbox for people with aortic disease. • Hoag Hospital (California, USA) held an online event on September 19. • The Waikato Aortic Center (New Zealand) held on online event on September 19. • LMU Department of Vascular Surgery Endovascular Surgery (Germany) held an in-person event on September 19. • Vascular Indonesia & HBTKVI held a virtual event on September 19. • Linneträdgården Helsingborg Sweden held its annual survivor meeting, with social distancing rules in place. • UK & Ireland held a day-long program on September 19. To learn more about Aortic Disease Awareness Week, please visit ADAwareness.org .

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By Dawn Knowles Hope The Cambridge English Dictionary defines hope as “something good that you want to happen in the future, or a confident feeling about what will happen in the future.” I felt that hope as I listened to Dr. Hal Dietz’s session, The Future of Marfan Syndrome Research, during the Foundation’s International E 3 Summit. Dr. Dietz outlined the roles and progress of genome editing, stem cells, and CRISPR technology. He discussed how researchers are using these to understand how the change to the FBN1 gene (the gene mutation responsible for Marfan syndrome) impacts the cells so they can then go forward to develop therapeutic strategies to correct the abnormal cell behaviors. He also discussed the current research underway impact that other gene variants—those that don’t cause problems or are neutral—could have. If we can understand the genes and variants that protect, we can perhaps mimic these mechanisms of protection using medications. Additionally, they are continuing to study the protective and harmful impacts of available medications, hormones, diet, and exercise, especially exercises with a protective benefit. As I listened to this, I imagined what this research could mean to someone like me who has Marfan. Two recent findings – the danger of fluoroquinolone antibiotics and the impact of oxytocin, a hormone produced during breastfeeding – may have changed the course of my Marfan syndrome. I took fluoroquinolones in my teens and early 20s. I was nursing my baby when I needed emergency aortic surgery when I was 28. Knowing that others can make better decisions because of research gives me great hope. Dr. Dietz emphasized that tremendous progress regarding the variability of expression of the FBN1 mutation within families. Researchers are looking at the potential protective

IN MARFAN RESEARCH

and significant advances have been made. So, while many of the gene therapies aren’t at the place where we can use them therapeutically yet, we have great reason to be hopeful that they will have an impact not just on the very young, but also across the spectrum of people affected by Marfan syndrome in the future. I’m excited and hopeful for the younger generations and I’m also thrilled to know that some of these therapies may still be available to me as I age beyond my current 53 years. Dr. Dietz emphasized, “So much has happened in the last five years, (we) can’t even dream what’s going to be possible five years from now.” blog, Polly Campbell said, “Research indicates that hope can help us manage stress and anxiety and cope with adversity. It contributes to our well-being and happiness and motivates positive action.” Those of us who are affected or who love people who are affected know that stress, anxiety, and adversity are part of what we navigate with Marfan syndrome. Knowing that research is building a brighter future makes it easier to keep moving forward with a hopeful attitude. I highly recommend diving into the details of current research in Marfan syndrome and related conditions and supporting the Foundation’s research initiatives. It’s about hope for the future – for all of us in this community. Dawn Knowles is the volunteer leader of the Foundation’s Marfan Writing Group. She was diagnosed with Marfan syndrome at age 21 and survived an aortic dissection at age 28. Dawn loves writing, going to the beach, and, most of all, spending time with her husband, Rick, adult kids, and two adorable grandsons in Michigan. Hope is something we can hold onto and it is also good for our health. In an article on Psychology Today’s

Dr. Dietz emphasized, “So much has happened in the last five years, (we) can’t even dream what’s going to be possible five years from now.”

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By Hannah Moore Huck was born early in the morning on April 6, 2020. The first thing everyone noticed was just how long his fingers and toes were. We joked about how he had such a “mean old man face” as he snuggled his older brother shortly after birth. From the moment Huck was born, he fought. Hard. Huck was placed on ECMO (a machine that replaces the function of the heart and lungs) at birth as he was suffering from severe respiratory distress that led to intubation and a feeding tube. He was diagnosed with neonatal Marfan syndrome and remained on support for his first eleven days. When he was finally discharged, it was the proudest moment for me. “He made it! He fought through and now I can take my baby home and spoil him like I have my others.” Over the three-and-a-half weeks he spent at home, Huck’s heart was fighting harder and harder to keep up, unbeknownst to us. This depleted his heart function and, when he was readmitted to the hospital, he was diagnosed with congestive heart failure. Huck fought through every minute, every procedure, every new line placed, medicine, and even dialysis. His heart held on, until it just couldn’t anymore. His strength still amazes me. It gave me the strength to be his backbone and advocate through it all. It gives me the strength now to ensure his life had a purpose, and a good one. Neonatal Marfan syndrome is what took Huck’s life. As a parent, nurse, and sonographer, I believe education is everything. I know that it leads to better healthcare, more informed decision making, and, ultimately, healthier outcomes. My goal is to provide neonatal Marfan education to as many people as I can, for Huck. Neonatal Marfan syndrome is the worst end of the spectrum of Marfan and, even within the neonatal Marfan babies, there is a range in severity, depending HUCK’S LEGACY “… I know that [education] leads to better healthcare, more informed decision making, and, ultimately, healthier outcomes. My goal is to provide neonatal Marfan education to as many people as I can, for Huck.”

p Huck was the son of Phillip and Hannah Moore, and the little brother to Maddox, Lucas, and Phillip. He is missed and loved abundantly every day.

on the combination of features and the severity of the individual components. Neonatal Marfan syndrome is a different entity than Marfan syndrome. It has early onset and rapidly progressive features, most seriously related to the heart, lungs, and airways. Being diagnosed prenatally (which is very difficult) or at birth can meaningfully benefit the outcome of the patient. It can be diagnosed at birth due to certain visual characteristics, as well as significant cardiovascular/pulmonary involvement immediately after birth. The most detrimental feature is severe regurgitation (or leakage) of the mitral and tricuspid valves in the heart, which leads to pulmonary hypertension (too much pressure in the lungs), which progresses to poor squeeze of the heart, and ends in congestive heart failure. Unfortunately, the prognosis for neonatal Marfan prognosis is poor –95% pass away within the first year of life. Because it is extremely rare, there are limited resources and interventions as of now. My hope is that I can raise awareness, and ask anyone who can to also help raise awareness. One shared speech could save one child's life, and I hope Huck's life will do that.

Hannah Moore is a nurse, OB/GYN sonographer, mama to four boys, and wife. She will always strive to be Huck’s continuing advocate and Marfan Foundation supporter.

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Monday evenings are for teens. Every other week, a group of teens with Marfan, Loeys-Dietz, VEDS, and related conditions gathers online to chat, hang out, and play games. Led by Dominga Noe, Marketing Manager for the Foundation, and Peter Donato, Volunteer Teen Program leader, the groups were formed as a way to help teens make connections during isolating times and have fun together. Teens Game Night is held every first Monday of the month at 7:30 pm Eastern. Tabletop and video games are the activity of the night. TEEN NIGHTS – ONLINE!

Teen Talk is every third Monday of the month at 7:30 pm Eastern, and ranges from casual conversation to topics that teens with rare conditions need to talk to one another about. Both nights are free, but registration is required to get the login information. Game Night Registration: Marfan.org/TeenGameNight Teen Talk Registration: Marfan.org/TeenTalk WALK FOR VICTORY®

Nothing can stop our fight for victory! Whether we are able to meet in-person or online, Walk for Victory returns this spring! Our first priority will always be the safety of our community and we all hope to be able to gather together in 2021. But if we cannot, we will continue our fight, thanks to an incredible community and our steadfast sponsors across the Marfan, Loeys-Dietz, VEDS, and related conditions community. New this year – share your victories by earning incentives as you raise funds with your team! At $100, you earn your first incentive prize and they get bigger and better as your team raises more. Hats, bags, and even Walk for Victory chairs could

be yours as our thanks for helping keep momentum going in our fight for victory. You can see all the swag and prizes, along with more Walk for Victory details, at Marfan.org/Walk. In addition to new incentives, we’ve got new Walks this year in Canada, Chicago, Dallas, Nashville, and the Great Plains. We’ll also be hosting a Global Virtual Walk for Victory to continue connecting all those who do not live near a Walk city as well as our community around the world. Team VEDS and Team LDS will be a part of each Walk, too! Start or join a team today! Marfan.org/Walk

NI

CENTIVE PROGRAM The more you raise, the more earn!

MY WALK SAVES LIVES®

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We are so excited to celebrate one year of The VEDS Movement. It has been nothing short of incredible to see how the community has grown in the last couple of years, and to see how much we have accomplished together in just one year as a division of The Marfan Foundation. Here is a look back at some of the things we have to celebrate. First, in October 2019, we launched several monthly virtual support groups for VEDS. Then in December, we launched our website devoted entirely to information and resources for people affected by VEDS, TheVEDSMovement.org . Shortly thereafter, we published a letter to the editor in the Advanced Journal of Emergency Medicine , highlighting the importance of recognizing a medical emergency in someone with VEDS in the emergency department. We kicked off the New Year by working on an emergency preparedness kit for patients, which includes a letter to the emergency department, a wallet card, and a fact sheet for EMTs and paramedics. This became available as a free download from our website in August. We also worked with members of our Professional Advisory Board and The Sullivan Group to develop an online Continuing Medical Education Course (CME) targeted for emergency medicine professionals, which went live in August and is available for any medical professional who wishes to take the course. Later in the summer, we had even more excitement. We arranged for two members of our Steering Committee, Frances and Bella Marin, to be featured in the August issue of EP Magazine , a parenting magazine that has more than 100,000 subscribers. Frances shared her story of parenting a child with VEDS and Bella shared what it was like growing up with VEDS and accomplishing her goals despite many medical challenges. Katie Wright, the director of The VEDS Movement, was featured in an episode of the popular podcast, Two Disabled Dudes. Finally, we established the month of October as a VEDS Action Month for awareness and advocacy, giving the community a month to focus on advancing our cause. On October 7, members of our Steering Committee met with the FDA for a Patient Listening Session we set up. Then, on October 12, thanks to the support of Board advisor Gil Bashe and his PR team at Finn Partners, USA Today published an article about Foundation Board Member and Defy Foundation Chairman, Dr. Tony Yasick, and his story with VEDS. We hope you were able to celebrate with us during our first VEDS Birthday Bash on October 23, and we look forward to many years of celebration and positive change for the VEDS community in the future. You can help us make every year a greater success by donating: TheVEDSMovement.org/donate . As the years go by, we know we will look back at this moment and realize this momentum was just the beginning. CELEBRATING A YEAR OF MOVEMENT

THE

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It is vital to educate our lawmakers about Marfan, Loeys-Dietz, VEDS, and other genetic aortic conditions and then advocate for laws and programs that address the needs of our community. Among the issues that are important to us are research funding, sensible opioid laws, and healthcare. The most effective way to get our message across is through the voice of our community members. Whether your lawmakers are in the middle of their term or are new to office, they want to hear about issues that are important to you, their constituent. To learn more about our legislative ambassador program, please visit Marfan.org/volunteer . You can also get involved in our legislative efforts by texting MARFAN, LDS, or VEDS to 52886 (text the word that matches your connection to the Foundation). t Grace Meyers, 17, of Michigan, shared her Marfan story with the aide for Michigan’s Senator Gary Peters on the Foundation’s Hill Day in February 2020. This year’s legislative efforts will be virtual. TAKE LEGISLATIVE ACTION

GENTAC ALLIANCE JOINS THE FOUNDATION

As of October 1, The Marfan Foundation is powering the GenTAC Alliance, the community of stakeholders committed to advancing the understanding of genetically induced thoracic aortic diseases and their treatment. The GenTAC Alliance was initiated in 2017 to har- ness the synergy and collaborations created by the GenTAC Registry (the National Registry of Genetical- ly Triggered Thoracic Aortic Aneurysms and Related Cardiovascular Conditions), which was funded by NHLBI and NIAMS, and enrolled and followed over 3600 patients from 2006 through 2016. “The Foundation has been an extraordinarily im- portant partner and supporter of the GenTAC Regis- try and, subsequently, the GenTAC Alliance over the past 14 years. In fact, the Foundation’s influence in promoting more investment in the science surround- ing genetic aortic conditions was at the heart of the GenTAC Registry’s creation by the National Institutes of Health in 2006,” said Kim Eagle, MD, Director, Frankel Cardiovascular Center, University of Michi- gan, and Chair of the GenTAC Alliance. “How fitting it is now for the GenTAC Alliance to come ‘home’ to become part of the rapidly expanding global vision of The Marfan Foundation as together we seek to improve human health surrounding the many types of genetic aortic disorders.” The goals of the GenTAC Alliance include enhanc- ing the scope of research and expanding collabora- tions to improve clinical management of genetically induced thoracic aortic diseases; facilitating effective

coordination of the scientific efforts among stake- holders; expanding partnerships to improve the diag- nosis and treatment of genetically induced thoracic aortic diseases; promoting the use and sharing of the resources (data, specimens and images) created by GenTAC and related registries; and identifying and tapping new resources to support grant oppor- tunities for research on genetically induced thoracic aortic diseases. “The goals of the GenTAC Alliance align with those of The Marfan Foundation as we work to expand our focus on not only improving the lives of those with Marfan, Loeys-Dietz, and VEDS, but also others with aortic disease caused by genetic factors,” said Cory Eaves, Chair of the Foundation’s Board of Directors. “The Foundation has collaborated with Dr. Eagle on the GenTAC Registry since its inception and looks forward to increasing the impact of research as the Alliance becomes part of our organization.” In early October, the Foundation and the GenTAC Alliance held the GenTAC Aortic Summit 2020, an online medical meeting which attracted more than 225 scientists and clinicians from all over the world. Highlights of this meeting will be shared with our entire community.

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“A WALKING MIRACLE” PLANS A GIFT

At 80 years of age, Valerie Camp is, in the words of her surgeon, “a walking miracle.” Born at a time when little was known about Marfan syndrome, she has overcome all odds and continues to live a full and happy life today in Arizona. While Valerie doesn’t recall today how she

p 2019 LDSF Board Retreat

On July 1, the Loeys-Dietz Syndrome Foundation officially became a division of The Marfan Foundation. The move, in some ways, was a homecoming for LDSF, which shares a significant history with The Marfan Foundation. It was largely due to research on Marfan that Loeys-Dietz syndrome was first recognized. “There is a strong tie between Marfan and Loeys- Dietz, making this expanded relationship a great next step for both organizations as we collectively seek to provide education, awareness, and resources to more people affected by these conditions,” said Beth Utz, who helped to found the Loeys-Dietz Syndrome Foundation and currently serves on The Marfan Foundation Board of Directors. Beth, whose son, Alex, has Loeys-Dietz syndrome, continued: “This is an opportunity to keep the identity of the Loeys-Dietz Syndrome Foundation and strengthen it alongside The Marfan Foundation to maximize reach and impact for all.” As a division of The Marfan Foundation, the LDSF has a division director, Angela Crist, and the support of the entire Marfan staff. The LDSF Board of Directors has transitioned into fulfilling a strategic advisory role and remains actively engaged in directing the vision and activities of the organization. Together, the LDSF and The Marfan Foundation are putting together new LDS-focused education and support opportunities to provide a greater breadth of programs and services for individuals and families living with Loeys-Dietz syndrome. The LDSF began and grew under passionate and generous volunteer leadership for fifteen years. Combined with the force of The Marfan Foundation, there is a wide horizon of new hope and opportunity for our community. LOEYS-DIETZ SYNDROME FOUNDATION UPDATE

first heard of Priscilla Ciccariello, the Foundation’s chair emeritus, or The Marfan Foundation, she does credit Priscilla and the early work of the Foundation with educating her about Marfan syndrome and directing her to the leading Marfan doctors of the day. It was that information, she insists, that was life-saving for her and why she’s still going strong, despite multiple Marfan-related surgeries over the years. When it came time to finalize her estate plan, and with no remaining family, Valerie knew she wanted to leave her legacy to The Marfan Foundation. Her dream is to ensure that affected individuals will continue to have access to the best medical information and professionals available. She wants to do her part to ensure that no one diagnosed today has to search, as she did, for the critical information that can save their life. Valerie’s legacy gift, when received, will do exactly that. “We are delighted the Foundation has had such an impact on Valerie’s life and are so grateful that she has selected the Foundation as the recipient of her legacy gift,” said Michael Weamer, President and CEO of The Marfan Foundation. “It’s my honor to welcome Valerie to the Antoine Marfan Legacy Society and offer my heartfelt thank-you for notifying us of her legacy gift. Recognizing Valerie’s generosity and the lasting impact it will have on future generations, during her lifetime, is truly meaningful to all of us.” If you would like to learn more about the Antoine Legacy Society or how to include The Marfan Foundation in your estate plans, please visit MarfanLegacy.org or contact Megan Martin at mmartin@marfan.org.

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By Kate Vogel McCray In 2019 our family moved and, for the first time ever, Fiona had to change specialists. It made us sad and caused anxiety. Within the first five minutes of her her first ophthalmology appointment in Texas I was told that both lenses in her eyes must be removed. I was a wreck! It was a lot to process and I looked in every direction for someone who could understand and answer my multitude of questions. But there was no one who really could be there to walk it with me. The surgeries came and went. We adjusted, we focused on the positives, and dwelled on the “cans” more than the “cannots.” A few months later, our world brightened when we were contacted by a mom, Ann, with a daughter who had the same diagnosis and who needed the same surgery as Fiona. Halle was even the same age as Fiona. Ann and I talked and she asked all the questions I had wanted answers to, but this time we were there with her and Halle. Ann and I wanted so badly for the girls to meet and have the support and comfort we found in one another. So cross-country Facetime it was, and it remained that way for quite a while. We desperately wanted to meet in person, but the Covid-19 pandemic had entered the equation. Fortunately, our children were already pros at long distance playdates. Halle’s surgeries were successful and tears of absolute worry and fear turned to tears of disbelief and joy. We shared the positive results and our girls shared an ever-growing and deeper bond. This summer, we finally met in person and the besties hugged for the first time. They chased each other, and giggles and happiness abounded. Moms embraced and were overjoyed by such happiness that had blessed each one of us through a truly terrifying moment, a moment where we wondered how it would be on the other side after the surgery. At the end of this rainbow there is something more precious than gold, something that no words can describe. And all the siblings are just as elated! Today we thank God for his mysterious ways and the gift he has given us in this family. The McCrays are a military family and Brian, Fiona’s dad, still serves on active duty in the Army. Fiona’s mom, Kate Vogel McCray, is retired from the Army. Fiona and her family will move again in 2022 to a new location and will re-establish care for Fiona. Kate enjoys raising her girls to be adventurous, hard-working, and supportive of one another. She is also a fluent German speaker. Fiona and her sisters are bilingual and attending German school in El Paso, Texas. They are hopeful they can continue learning in German at their next assignment. BESTIES

p Fiona and Halle got to meet for the first time late this summer after starting their Marfan friendship online during quarantine.

GET CONNECTED Sometimes you just need to talk to someone who understands life with Marfan, LDS, or VEDS. Whether you are affected or you’re caring for someone with a genetic aortic condition, there are times that you want to know what it’s really like to go through a certain procedure or live with a new medical diagnosis. Sometimes you just want to have someone you can talk to about every day life without having to explain your condition or its effects. This is where the Foundation's Mentor Program comes in. We are here for you. All ages and condition connections are welcome in the Mentor Program. Get more information at Marfan.org/Mentor.

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MENTAL RECOVERY AFTER SURGERY

Elijah Williams (@publicenemy1_), from Dallas, has been through four Marfan-related heart surgeries and has plenty of physical scars to show for it. He recently shared his story and his struggles to heal from the mental aspects of multiple surgeries via his Instagram account. As usual, the community stepped up to share experiences and support. Here are some of the responses.

NEW SWAG NOW AVAILABLE

You can now show the world that you support The Marfan Foundation and its divisions, the Loeys-Dietz Syndrome Foundation and The VEDS Movement, with masks* and t-shirts that feature our logos. The Foundation is making these new offerings available as a result of many inquiries from people in our community. Two new t-shirt designs were just unveiled (adult sizes are $30 while kids’ sizes are $25) along with several options for masks, including one that proclaims, Better Days Ahead. Two types of masks are offered – a basic mask ($10) and a premium mask ($13). Proceeds benefit The Marfan Foundation. To start shopping, please go to bonfire.com/store/ marfanfoundation .

*Please understand that our face masks are not a replacement for medical grade Personal Protective Equipment and, in circumstances where medical grade Personal Protective Equipment is recommended, you should consult a healthcare professional. The decision to use this mask is solely your own. Please remember that the use of face masks is not intended to replace other recommended measures to stop the community spread of COVID-19, such as social distancing, washing your hands, and refraining from touching your face. Follow the latest advice of the CDC and your own healthcare professionals as to how best to keep yourself safe.

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EAST COAST RUN 2020

What do you get when you combine really cool sports cars with generous drivers who pursue their passion for cars with a cause that is close to our hearts? The result is the East Coast Run 2020, organized by Asa Gladstein of Boston, which raised $60,000 this summer for The Marfan Foundation. This is the second year that the East Coast Run raised money for the Foundation. Their two-year total is an incredible $80,000. Asa’s passion for the Foundation is due to his best friend, Dario Polci, who has Marfan. Asa saw all that Dario went through, including open heart surgery to repair his aorta while he was in high school, and reached out to the Foundation last year to form a life-saving partnership that not only raises critical funds, but also raises extensive awareness about Marfan on social media. In addition, all cars in the East Coast Run, which this year took drivers from Boston, through the Adirondacks, to Cleveland, displayed Marfan swag. “I love doing what I do,” said Asa. “We raise a bunch of money for a phenomenal organization, and then celebrate by doing what we love. We combine

p Daniel Friedrichs, who has Marfan, is one of the car enthusiasts who participated in the East Coast Run 2020.

our passions for giving back and driving cars. This is the result.” Want to learn more about Asa’s group, Squad Driv- en, which puts on this event, and get the details on the East Coast Run 2021 when they become avail- able? Follow Squad Driven on Facebook and Insta- gram. We encourage you to show your appreciation!

RECOGNIZING DR. REED PYERITZ ON HIS RETIREMENT

“I have had the honor of knowing Reed for more than thirty-five years, both as a patient and as a fellow volunteer and supporter of the Foundation,” said Ray Chevallier, a member of the Foundation’s board of directors who previously served as board chair. “Reed has always demonstrated an invaluable combination of traits: the clinician’s dedication to the well-being of the patient, the researcher’s unyielding desire to expand upon the body of

On behalf of all of us in the Marfan, Loeys-Dietz, VEDS, and related conditions community, The Marfan Foundation extends its deepest appreciation to Dr. Reed Pyeritz upon his retirement.

Dr. Pyeritz, who was most recently the William Smilow

Professor of Medicine and Professor of Genetics at the Smilow Center

for Translational Research at the University of Pennsylvania, is a founding member of The Marfan Foundation and has served as a member of its Professional Advisory Board (PAB) – including a stint as chair – since its inception. Throughout his 40+ year career, Dr. Pyeritz has been committed to research and patient care for those with Marfan syndrome and related conditions. He has been honored extensively by the Foundation for his many accomplishments that have helped to extend the life and enhance of the quality of life for people with these conditions. He will continue to serve on our PAB, which provides medical oversight and guidance to our programs and services.

p Dr. Pyeritz with the late Cheryll Gasner, RN, a nurse with Marfan who was also a co-founder of the Foundation.

medical knowledge, and the advocate’s passion to make the world a better place, particularly for those affected by connective tissue conditions. From his co-founding of the Foundation in 1981 to his current ongoing contributions as a member of the PAB, the Marfan and related conditions community has had no greater friend.” The Foundation wishes Dr. Pyeritz many years of good health and happiness with his wife, Jane Tumpson, and their children and grandchildren.

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Marfan.org

WE REMEMBER AND HONOR We are grateful to our members and friends who have made contributions in memory of, or in honor of, the following individuals between May 1, 2020, and September 15, 2020. These donations are fully appreciated and support our programs and services that create a brighter future for all those living with Marfan, Loeys-Dietz, VEDS and related conditions. Donations to Walk for Victory are not included.

Lerman Family Sinclair Li Jan Lynch Gretchen MacCarrick Leo Marcotte The Marfan Foundation PAB Grant Martin Brian Martinez Karen Maxwell Claire McConwell McLean-Jennings Family Caroline Miller Claire Moore

Zoe Mae Bayouth Roy Belletto Chuck Berst Nora Boronkay Margaret Marie Scramuzza Boudreau Marissa Broady Adam Burchett Gabrielle Ruelos Cannistraci John Cardillo Sarah Cayo Laverne & Margaret Chaney Betty Costo Robert Coy Blaise Dafoe Evans Nadean Davis John Demasi Jim Brown and Helen Duke Michael Enbar Peggy Encinia Bill Feinstein Autumn Rachelle Ficco Cheryl Fisher Philip Joseph (PJ) Fusaro Bruce Glen Gold Charles Golden Jeff Goldman Lois Gum John Hartley Joseph and Philip Hayden Genevieve Hayward Fred Hearn Jami Slye Gahr Robert Garrett John Michael Glenn Aileen Cheng Nancy Conger Rita Connaughton

Milan Lazorcik Lucille Link Michael Lytton Kevin Mahony Frank Marin Ally Marisch Albert Matsuura

Donations In Honor Of

Marie Abbruzzese Keith Ali Lisa Altemose Lou & Pat Anne Modern Autobody

Margaret McCabe-Kristl David A McDonnal Sr. James Daniel Meckler Gary Medeiros Patricia Moran Andrew Morrell Elmer Edward Morris Aline Morrissette Patricia Nicolosi Lynn Clifford Noe Michael Nygaard Nicholas Owens Hunter Paproski Christopher Paulsen Paul Petroski David and Bryan Pfirrman Nancy Phillips Faye Pullins Pablo Quinones Ilene Roberts Douglas Roth Michael Scirotto Jr. Robert L. Seigle Jami Slye Easton Srofe Margaret Stolle Matthew Joseph Thiemann Larry Tucker Michael Walter Montgomery Ward Doris Jean White Teresa Wireman Estelle Yakimovich Stephen G. and Stephen R. Yakimovich Yasick Family Members Lost to VEDS Michelle Zambrano Mom, Stuart, Julie, Mike, Penny, and Dorothy Jadzia Marie Renaud Kelli Weickum Riddle Daniel Rigney Doug Rith Pamela Waters Kelli Weickum Jean White

Filip Avramovic Caroline Bange Daniel/Cooper Barham Jerry Bluestein Elliott Bobbe Patrick Bowman Dr. Alan Braverman Craig Broady Lulu Butvick Maher Louise Chudnofsky Leo Cole

Andrew Morrell Grandma Nancy Christy Nath Carter Nietrzeba Eva Norum Mom and Mrs. P. Maria Palhota Cullen Petrella Penelope Philp

Alyssa Conley Zayden Cortez Lynn Julian Crisci Bruno DaSilva Crisanna DeLuna

James Pullins Allison Pullins

Anthony R Joanne Ray Jadzia Marie Renaud James Richardson Logan Robinson Jon Rodis Saef-Lewis Family – Covid-19 Health Care Workers Salm Family Mycala Salmonsen

Rita Drummer Andy Erikson Jessica Falco Victoria Falcone-Pawar Delaney Fisher Carson Flanagan Daniel Friedrichs Nayeli Garcia-Mowbray Bruce Gold Heather Gooch

Jimmy Shaw Sarah Singh Doug Smith

Connor Hajj Lesley Harris Beckett Hotchkiss Debby Howard Frank Howell Alli Huffman Gail Jehan Jennings Family

Cameron Sweeting Matthew Thiemann

James Hinds Joy Hobson

Allen Tucker Max Wallace Jean White Lisa Wiegner

Hugo Hoffmann David Honaker Nancy Hughes Scott Hunefeld Chigger Hyatt Eileen Ilberman Louis Jameson Renee Jessup

Soren & Nils Joles Morgan Jozwiak Clayton Kaiser Sis Kane Daniel Keyes Dawn Knowles Theresa Kocerha-Jimison Eli Korin Hillel Korin Scott & Sarah Kozak Rob Kroeker Robert and Kevin Kroeker

Cheryl Williams Connor Wilson Sam Woodhouse Katie Wright Johnny Yanakakis Luciana Young Janet Levitt Zalkin

Kimberly Jessup Theresa Jimison Jill Kaeppel Mary Kauffman Cathy Knox Jonathan & Ellen Korin

Donations In Memory Of Carol, Adrian, and Elias Adame

Julie Kurnitz Scott Larson

Haley Langford Jaden Largent Jason Lee

LaVonne Anderson Virginia S Anderson

Jonathan Larson Brian Laughman

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Fall 2020

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BETTER DAYS AHEAD We are getting through this together.

Stay connected with The Marfan Foundation , Loeys-Dietz Syndrome Foundation , and The VEDS Movement .

The Marfan Foundation Facebook: @themarfanfoundation Instagram: @themarfanfoundation Twitter: @MarfanFdn

Loeys-Dietz Syndrome Foundation Facebook: @loeysdietz Instagram: @loeysdietz Twitter: @LDSFoundation

The VEDS Movement Facebook: @VEDSMovement Twitter: @VEDSMovement