Connect Issues Winter 2021
NEW MENTAL HEALTH PROGRAM
CARING FOR THE CAREGIVER
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.
In 1981, Sandra Day O’Connor was appointed the first female on the US Supreme Court, a postage stamp was 18 cents, the top song was Physical by Oliva Newton John, Prince Charles married Lady Diana and, most importantly, The Marfan Foundation was founded. Little did we know that some 40 years later, our first leader, Priscilla Ciccariello, would be 95 and going strong, Dr. Reed Pyeritz, a founder, would be still involved in life-saving research and the author
of our Research & Progress appeal, and we would have enjoyed countless advances in life-saving care and treatment for individuals with Marfan syndrome and related conditions. It is also only fitting that, in our 40 th year, we established The VEDS Movement for individuals with Vascular Ehlers-Danlos syndrome, welcomed the Loeys Dietz syndrome Division and GenTAC Alliance, and greatly strengthened our national and international footprint. On the horizon is a sleek, contemporary, new website, which will be translatable into eleven languages, our first virtual Annual Conference and updated Research program early this summer, and our 11th International Research Symposium in the spring of 2022. This issue also features articles on the loss of two of our most loyal friends and supporters, Dr. Vincent Gott, a true pioneer in aortic surgery, and the incomparable Annie Reinking, our vibrant spokesperson and dear friend. While Annie’s passing left a huge void in all Marfan hearts, the outpouring of messages regarding her extraordinary impact on countless lives was truly remarkable. She was truly our star and we were blessed to be in her company on so many important and meaningful occasions. We will be honoring Annie later this year. Looking forward to the next 40!
Learn more and get involved at Marfan.org.
CONNECTIVE ISSUES Winter 2021 VOLUME 40 | NUMBER 1 Connective Issues is the newsletter of The Marfan Foundation. It is published three times per year.
Inquiries should be addressed to: Publicity@Marfan.org
This issue of Connective Issues is made possible through a grant from the Chu and Chan Foundation.
Michael L. Weamer President & CEO
ON THE COVER: Kate Jurgens, captured here in one of The Marfan Foundation's masks, is one of the founding board members of the Loeys-Dietz Syndrome Foundation and served on the board from its inception to 2014. "Photography gives me an outlet of storytelling in a different way," she says. Read more about Kate and Mo on page 11 in this edition of Connective Issues. Masks available at bonfire.com/ store/marfanfoundation .
THE MARFAN FOUNDATION 22 MANHASSET AVENUE PORT WASHINGTON, NY 11050 516-883-8712 | 800-8-MARFAN MARFAN.ORG
PAB THANK YOU As we begin the 40 th year of The Marfan
INTRODUCING OUR NEWEST PAB MEMBERS
Foundation, we want to share a special thank you to our Professional Advisory Board (PAB), which is currently chaired by Dr. Heidi Connolly, Mayo Clinic. These healthcare providers are the leading medical experts on Marfan, LDS, VEDS, and other genetic aortic and vascular conditions. They are our trusted advisors who volunteer their time and expertise out of deep commitment to our community. Many of the PAB members have been have been involved with the Foundation throughout their careers, some even from our inception in 1981. Each member is an expert at the top of their field, providing us with the most up-to-date information on research opportunities, treatments, and management. Members of the PAB volunteer their time and expertise with us throughout the year. They assist Jan Lynch, the nurse who heads our Help & Resource Center, address inquiries, lead medical education webinars, and provide medical oversight for our materials. In 2020, they rose to the occasion as we worked to give our community COVID information specific to their needs and answer the many questions about how COVID would affect someone with a genetic aortic or vascular condition. The PAB was also instrumental in the International E 3 Summit, giving presentations and answering questions from the 3,000 participants from all over the world. In addition, members of the PAB guide us as to when and where our advocacy efforts would be most worthwhile. They serve as strong advocates for the Foundation with universities, hospitals, professional organizations, and donors. At times, they need to deliver advice that is different from our desires or wishes. They help us answer difficult questions like why CRISPR technology is not a useful tool for us at this time or why these conditions are not ready to be listed on the newborn screening panels. The PAB provides us with hope and guidance for truly viable treatments and technologies, as they emerge. We are thankful that, during this pandemic, we can rely on them to provide us with the best guidance that is specific to our community’s issues and conditions. This talented group of volunteers is vital to our mission and we are deeply grateful to each and every one! For a complete list, please go to our website.
Adam Bitterman, DO , is an orthopedic surgeon and foot and ankle specialist at the Northwell Orthopaedic Institute and assistant professor of orthopaedic surgery at the Zucker School of Medi- cine at Hofstra / Northwell. Dr. Bitter-
man, who is affected by Marfan syndrome, has been a frequent workshop leader at the Foundation’s Annual Conference and has been a featured speaker in our Virtual Medical Symposium Webinars.
Mark Lindsay, MD, PhD , is a pediatric cardiologist/cardiologist specializing in genetic aortic disease at
Massachusetts General Hospital and Massachusetts General Hospital for Children and assistant professor of medicine at Harvard Medical School. Dr. Lindsay’s laboratory is primarily interest in the clinical expression and molecular etiology of aortic aneurysms, including VEDS. Gretchen MacCarrick, MS, CGC , Disorder Clinic Team at the McKusick- Nathans Institute of Genetic Medicine at Johns Hopkins. Gretchen, who has been involved with The Marfan Foundation for many years, is a co-founder and past president of the Loeys-Dietz Syndrome Foundation (now a division of The Marfan Foundation). Chris Malaisrie, MD , is a professor of is a genetic counselor on the Cardiovascular Connect Tissue
surgery in the division of cardiac surgery at Northwestern University and attending cardiac surgeon at Northwestern Medicine, as well as co-director of the Marfan Clinic,
Bicuspid Aortic Valve Clinic, and Thoracic Aortic Surgery Program within the Bluhm Cardiovascular Institute. He hosted the Foundation’s Annual Conference in Chicago in 2012 and 2015.
JORDAN NAILOR REBOUNDING ON THE COURT For lots of kids, sports are more than a game. Between tournaments, practices, and travel teams, sports can become a way of life that is organized by season – football, basketball, baseball, summer leagues, repeat. The circle of friends becomes a sports family, all with really strong backsides from weekends spent sitting in bleachers. Heading into middle school, the sports life was a happy one for the Nailor family. Jordan, 13, was start- ing to get more focused on his favorite, basketball. Because of Marfan features, it appeared that he was gifted for the sport. But neither Jordan, nor anyone in his family knew that he had the condition. “I thought as I got older, I could maybe play in col- lege,” said Jordan.
The Nailors say there were small clues that Jordan might have Marfan, but the idea had been pushed aside by their doctor until the family’s optometrist pushed for testing and the diagnosis was confirmed. As disappoint- ing as it was for Jordan and his parents to walk away from the teams and friends they’d grown to love, they realized quickly how important diagnosis and treatment were to keeping Jordan safe and healthy.
Too often, when families find out their child has Mar- fan, it’s because the child faces a medical emergency. Now, with better diagnosis and more awareness, this is less often the case. The Nailors try to be proactive with people to help them see the signs. “If we see a kid who
the Mississippi River and in nearby Lake Tomah. “I never really got to fish with my grandpa a whole lot before because he was working and I was playing sports,” said Jordan. “Now that he’s retired, we can sometimes go out for a whole day.” Grandpa Kevin may take
“We try to spread as much awareness as we can. Plus, it’s nice when people around us know more about Jordan and his situation.”
is growing very fast and maybe has poor vision, I’ll mention Marfan to the
his fishing seriously, but time with his grandson is about more than just fishing. As a professional fisherman, he has a lot of
parents to see about check- ing it out, just in case,” said Rich Nailor, Jordan’s father. “We try to spread as much awareness as we can. Plus, it’s nice when people around us know more about Jordan and his situation.” IN THE GREAT OUTDOORS In the spring of 2020, Jordan began golfing with his dad, and the family invested in a set of custom-built clubs. “It’s really cool now that I can play golf with dad for 18 holes and we just talk the whole time,” said Jordan. Another family love is fishing. Grandpa Kevin is a professional fisherman whose favorite spots are on
exposure in the fishing world so, to show solidarity with his grandson, he had his boat customized to spread awareness about Marfan syndrome. “When my dad got his new boat, that was some- thing he really wanted to do for Jordan,” said Rean- non, Jordan’s mother. In many ways, Jordan is like any other teen. His grandpa plays pranks on him when they are out fish- ing. He has been known to drive the golf cart a bit recklessly. But it’s fair to say that, basketball playing or not, Jordan has a special skill in rebounding.
MARFALOUS BECKETT In 2019, Brandy Hotchkiss, of Arizona, headed to the eye doctor with her son, Beckett, who was having trouble seeing at school. After examining him for about thirty seconds, the doctor identified a problem with Beckett’s lenses, said that he probably had Marfan syndrome, and rattled off a list of specialists Beckett would need to see. “I thought I was just going in get him new glasses!” said Brandy.
After many doctor visits, Beckett’s diagnosis of Marfan syndrome was confirmed and the family connected with The Marfan Foundation and other Phoenix-area families to learn more about life with this condition. Among the resources they found, Walk for Victory proved to be the perfect way for Beckett to embrace his new community. Beckett, who is the only one in his family with Marfan, didn’t just enjoy the Phoenix Walk for Victory, he wanted to WIN. At six-years-old, he wanted to raise the most money! Leading up to the Phoenix Walk, he would ask Brandy each morning how much another top team, Jerrod’s Cubbies, had raised. “We need to beat them!” he’d say. After Beckett’s Coyotes won Top Fundraising Team in 2019, the Cubbies told Beckett they were aiming for first again in the coming year. Beckett fired up his fundraising early and has already raised $20,000 ahead of the Phoenix Walk in 2021. According to Brandy, the new incentive prizes got him really excited, too. Beckett makes calls to family to ask for their support and helps come up with what to write on his fundraising page. He picked his team name – Beckett's Coyotes – and their green tie dye t-shirts. “He’s so proud of it. He wears it to school, probably too much,” said Brandy. The Walk for Victory, and the park where it is held in Phoenix, now hold such a special place in the family’s heart that they decided to get a tree planted there. This February, a Sisso tree will be planted at Chaparral Park in a spot where they can add a bench and some additional trees in the future. Not coincidentally, the Sisso tree is known for its quick growth and long, slender branches. Beckett calls himself the Marfan Man and loves to use his “go go Marfan arm” to reach things for his two younger brothers. “It’s funny because the kind of tree we picked, it grows like a Marfan Man, like Beckett.” said Brandy. "Kids are so resilient. When the eye doctor started spitting out all that information, I was like WHOA! Slow down! But Beckett has embraced his Marfan Man superpowers and however we can help, we want to do that.”
Hi, I’m the Marfalous Beckett. I was diagnosed with Marfan syndrome when I was six years old. My eye doctor was able to tell that my lenses were dislocated and that started the millions of doctor appointments with various eye surgeons/retina specialists, genetic counselors, and cardiology specialists which lead to my confirmed diagnosis. In November 2019, I had my lenses removed and now I wear contacts and glasses with bifocals to help me see. I am thankful for my early diagnosis and, even though I know I may have a long road ahead, I’m staying positive and dedicated to help fight for victory!
If you’d like to support Beckett’s Coyotes visit: Give.Marfan.org/team/325704
THE MARFAN FOUNDATION AWARDS $675,000 IN NEW RESEARCH GRANTS
In November, The Marfan Foundation announced $675,000 in new grant awards to seven physicians/scientists as part of its 2020 Research Grant program. These new two-year grants include one fellowship award, one early investigator award, one clinical research award, and four faculty awards. The newly funded projects address issues that affect cardiovascular mechanisms in Marfan syndrome and related conditions, structural function in VEDS, and orthopedics for Marfan. In addition to the newly awarded research grants, the Foundation is currently providing an additional $725,000 this year in research support for the Aortic Valve Sparing Operative Outcomes Study, the Marfan and Related Conditions International Patient Registry with Backpack Health, as well as funding for 20 researchers who were awarded multi-year grants in the past two years. “The grants we funded this year reflect the Foundation’s commitment to research that supports investigating new mechanisms for drug therapy intervention in hopes to eliminate aortic enlargement, dissection and the need for surgery,” said Dr. Josephine Grima, chief science officer, The Marfan Foundation. “With the inclusion of this year’s grants, we are now funding 27 research studies. Research is the hope that fuels our community and we are gratified by the number of researchers who are passionate about advancing the field for the benefit of those living with these Marfan, Loeys-Dietz, VEDS, and other genetic aortic conditions.”
Here are the studies that were awarded 2020 research grants from The Marfan Foundation: Faculty Grants = $100,000 u Sacha Jensen, PhD, James Cook University Mechanisms determining Marfan syndrome severity u Giulio Pompilio, MD, PhD, FESC, University of Milan Study of EMMPRIN as a possible novel therapeutic target for thoracic aortic aneurysms in Marfan syndrome u David Shreiber, PhD, Rutgers University The structure-function effects of specific collagen-III mutations in VEDS u Jessica Wagenseil, DSc, Washington University Targeting elastic fiber degradation in thoracic aortic aneurysms Clinical Research Grant = $100,000 u Michael Samaan, PhD, University of Kentucky Hip joint function and health in patients with Marfan syndrome Early Investigator Grant = $75,000 u Anna Cantalupo, PhD, Icahn School of Medicine at Mount Sinai A new druggable epigenetic pathway in Marfan syndrome Victor A. McKusick Fellowship Grant = $100,000 u Yanming Li, PhD, Baylor College of Medicine ScRNA-seq reveals crosstalk between SMC-like cells and macrophages in aortic tissues from Marfan syndrome patients p Left: Dr. Anna Cantalupo, Icahn School of Medicine at Mount Sinai received the Early Investigator Award. Right: David Shreiber, PhD, Rutgers University received a Faculty Award for his VEDS research.
p Michael Samaan, PhD, University of Kentucky studies muscle-based interventions that may lead to reduction in hip joint pain and cartilage degeneration within the Marfan population.
VEDS Research David Shreiber, PhD, Rutgers University The structure-function effects of specific collagen-III mutations in VEDS
VEDS is caused by mutations in collagen-III, a major structural component of the extracellular matrix (ECM) that provides strength and structure to blood vessels and other elastic tissues. The research goal is to understand how specific mutations in collagen-III lead to altered blood vessel structure and/ or cell behavior in VEDS. By studying how the mutations in collagen-III affects blood vessel strength, the researchers hope to understand the impact of specific mutations on the severity of VEDS and open new therapeutic avenues for people with VEDS, including potential targets for gene editing. Orthopedics for Marfan Michael Samaan, PhD, University of Kentucky Hip joint function and health in patients with Marfan syndrome Approximately 46% of people with Marfan syndrome self-report hip joint pain. A diagnostic feature of Marfan syndrome is acetabular protrusion, which leads to a higher risk of developing secondary hip osteoarthritis. This study will use a novel multi-modality approach consisting of gait analysis, musculoskeletal simulations, and magnetic resonance imaging to assess differences in hip abductor strength, abductor morphology (volume and fatty infiltration), and hip joint contact forces (JCF) in people with Marfan syndrome and healthy controls. The researchers will also determine the ability of hip joint abductor muscle volume, hip abductor fatty infiltration, and hip JCF to predict severity of hip joint pain and hip joint cartilage degeneration within the Marfan population. This study is the first to mechanistically assess the effects of Marfan on hip joint muscle function and joint mechanics that may be involved in development of hip osteoarthritis in this population. The results of this study will provide insight into the development of targeted muscle-based interventions that will reduce hip joint pain and hip joint cartilage degeneration within the Marfan population. Early Investigator Award Anna Cantalupo, PhD, Icahn School of Medicine at Mount Sinai A new druggable epigenetic pathway in Marfan syndrome Using an innovative research strategy, the researchers have used a validated mouse model of Marfan syndrome to link TAAD (thoracic aortic aneurysms and dissections) development with increased activity of an enzyme called Hipk2. Both human and mouse aortas express Hipk2 and both people and mice with Marfan have increased amounts of Hipk2 in their aortas. Importantly, the researchers have also reported that Marfan mice with genetic inactivation of Hipk2 fail to develop TAAD, suggesting that they could prevent TAAD progression by blocking the way Hipk2 works in the body. In this study the researchers hope to identify new factors of TAAD in Marfan syndrome that can be blocked collectively or separately using drugs that are already approved or can be defined. Together, these animal studies will provide evidence- based support for testing new compounds in clinical trials involving people with TAAD.
GENTAC AORTIC SUMMIT: HIGHLIGHTS FOR OUR COMMUNITY By Roanne Weisman, Marfan Foundation Volunteer Writing Team
the effects of fluoroquinolones (a group of antibiotics) in Marfan mice. Studies using established mouse models support that fluoroquinolones should be avoided in people with aortic dilatation and in those at risk for aneurysm and dissection. In humans they found that this antibiotic leads to a slight increase in the risk of tearing tendons, which share structural similarity with the aorta. Though the likelihood of causing an aorta tear is low, use of these antibiotics might increase risk, so the recommendation is for people with connective tissue conditions to avoid fluoroquinolones if possible. Calcium channel blockers are also potentially risky because they seem to enhance dilation of the aorta in
In November 2020, the GenTAC Chair Kim Eagle, MD, University of Michigan, and Josephine Grima, PhD, the Foundation’s Chief Science Officer, shared research highlights from the Foundation's newest division, the GenTAC Alliance ( GE netically T riggered T horacic A ortic A neurysms and Related C ardiovascular Conditions). The highlights were from the recent GenTAC Aortic Summit, an international scientific meeting held in the Fall that was powered by The Marfan Foundaton. Researchers from all over the world presented the latest scientific evidence of the risks, diagnosis, prevention, and treatment of genetically triggered thoracic (chest) aortic aneurysms and related conditions. Investigators continually analyze data to find trends to help physician make better informed decisions about management. Although researchers have learned a lot about genetic mutations that result in aortic aneurysms and dissections, there is still a lot to learn. Recent studies looking at familial aortic aneurysm genes are investigating how they can compromise the smooth muscle contraction and the integrity of the matrix (framework) supporting the outside of aorta. Additionally, the scientists are collecting patient outcomes based on gene mutations to support more personalized management. Many people in our community want to know what they can do to protect their aorta. Researchers agree that the answer varies with every person, depending on the type of abnormality, family history, occupation, the size and quality of the aorta, personal goals and fears, and what gives you joy. Their advice is to collaborate with your healthcare professional to provide guidance about the best physical activities, how to avoid risk, and build the confidence to lead a full life. One study showed that a low-impact mild form of aerobic exercise seemed to help reduce harmful changes in the aorta over time. It is also important to warm up and cool down, and avoid isometric and immediate stress on the aorta, such as picking up heavy weights. Another topic the researchers are studying involves Collaborate with your healthcare professional to provide guidance about the best physical activities, how to avoid risk, and build the confidence to lead a full life.
Marfan mice. Data suggests that calcium channel blockers may be beneficial in people with
type B dissection, but should be used with caution in people with with Marfan syndrome and other forms of heritable aortopathy. A common question among women
with genetic aneurysm mutations is the risk of dissection in the ascending aorta related to pregnancy . Recent studies have shown that women with an aorta measurement of 4 cm or higher may be at risk of a dissection and should be counseled about the risks of pregnancy. In some cases, the ascending aorta can be prophylactically replaced before the woman becomes pregnant. In addition, hormonal changes after delivery may also affect the integrity of the aorta. However, studies indicate that type B dissections (descending aorta) frequently occur post-partum and are unpredictable. Anyone who is at risk of dissection, should take steps to avoid an emergency aortic surgery . Topics to discuss with your surgeon include aorta size, aortic wall stress, blood flow, thickness of the aorta, and family history of aortic dissection at a small size. Over the last two decades, aorta replacement decisions have fluctuated, and knowledge is continuing to evolve. Aortic diameter remains the primary measurement dictating the timing of surgery for ascending aneurysms. However, new measurements and analyses, as well as improved surgical outcomes, may more accurately predict when to intervene surgically. The Marfan Foundation continues its commitment to research, bringing the scientific community together from all over the world to advance knowledge on genetic connective tissue disorders. Through the GenTAC Alliance, the Foundation is extending its impact worldwide and has more opportunities to help facilitate research that can result in improved outcomes for the Marfan, LDS, and VEDS community.
The Marfan Foundation is increasing its outreach north of the U.S. border based on the feedback from our Marfan, Loeys- Dietz, and VEDS community in Canada. More than 150 Canadians attended our International E 3 Summit over the summer. They expressed gratitude for the comprehensive educational presentations we offered as well as the numerous networking opportunities. Through the Summit app, they were able to connect with community from throughout Canada and all over the world. Kevin Kroeker, of British Columbia, who was diagnosed with Loeys-Dietz syndrome in 2018, stressed the importance of connecting with the Marfan and LDS community. “People with LDS answered the many questions that my wife and I had after I was diagnosed. They are incredibly supportive of each other through the highs and lows and uncertainties,” said Kevin. “I couldn’t have made it through this amazing journey of discovery without the support of The Marfan Foundation and Loeys Dietz Syndrome Foundation.” (The Loeys-Dietz Syndrome Foundation is now a division of The Marfan Foundation). The Foundation is extending its outreach in Canada with the first-ever Canada Walk for Victory, a virtual event scheduled for May 8, 2021. Through this virtual event, people from Canada, from coast to coast, can get together for a common cause. Whether they have Marfan, LDS, or VEDS, they can get involved with the community and create connections that can help them on their medical journey. Kevin is our LDS Community Chair, Monique Voorn, of Ontario, is our Marfan Community Chair, and Lindsay Hopp, of Alberta, is our VEDS Community Chair. “I’m thrilled to be the VEDS Walk Chair to be a good support for fellow VEDS friends,” said Lindsay who was diagnosed with VEDS at the age of nine. “I also want to cultivate more awareness of this disease and be able to help others.” “The Marfan Foundation is the best resource for information and access to experts who treat Marfan syndrome,” said Monique, who was diagnosed with Marfan at the age of 18. “Through the Canada Walk for Victory, I would like to increase awareness of the Foundation among Canadians so they know that this amazing resource is here for them.” Kevin, who has taken advantage of the many webinars the Foundation has offered, is grateful that the Foundation has been able to provide answers to his questions. Most importantly, he says, the Foundation and the connections it provides inspire hope. “Through the Canada Walk for Victory, I want to raise awareness of Marfan, LDS, and VEDS within Canada,” said Kevin. “I also want to raise money to support this great cause.” To register for the Canada Walk for Victory, visit Marfan.org/ WalkCanada . Participants will receive the same incentives as all other Walk participants to thank them for their fundraising efforts. The Canada Walk for Victory is one of 26 Walks for Victory scheduled between March through June 2021. Please visit Marfan.org/Walk to find a Walk near you. COMMITMENT TO CANADA
p Kevin and his wife, Jena.
p Lindsay, with her husband Logan, children Hardin and Farrah, and their dog, Beau.
p Monique with her husband Luc.
NEW MENTAL HEALTH PROGRAM IN 2021
It is our hope that, through this new program, the Foundation can destigmatize the need for mental health support and provide impactful programs, including a mechanism for accessing trained professionals, that will help the Marfan and related conditions community on their journey.”
Living your best life with Marfan, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions requires more than taking care your medical needs. Your mental health is a critical component too. The Foundation’s Empowerment Webinar Series is one way we have been addressing these issues. Now, thanks to the generosity of wonderful friends, Scott and Kristen Griebel, the Foundation can make a bigger impact. Their gift of $100,000 will enable us to launch a multi-faceted comprehensive mental health program in 2021 that will change lives. Scott has Marfan syndrome, as does the couple’s teen-aged son, Jackson. “Medical care for people with Marfan and related conditions has come a long way in the last few decades with many tests, medications, and procedures at one’s disposal to maximize the chances for a long and productive life,” said Scott. “However, we have often felt that the mental well-being of affected people and their families has not been given enough attention. It is our hope that, through this new program, the Foundation can destigmatize the
need for mental health support and provide impactful programs, including a mechanism for accessing trained professionals, that will help the Marfan and related conditions community on their journey.” Mental health includes our emotional, psychological, and
social well-being. It affects how we think, feel, and act. It also helps determine how we handle stress, relate to others, and make choices. Mental health is important at every stage of life, from childhood and adolescence through adulthood. Through a combination of outside experts and the experience of members of our community, we will provide valuable information, programs, and support to people with Marfan, LDS, and VEDS who are struggling with mental health issues. Among the topics that will be addressed are living with your diagnosis, coping with surgery, talking to your children about their diagnosis, depression, bullying survivor guilt, and more. “Now that I have become friends with many people with Marfan, it is clear to me that mental health reactions to having this syndrome can be as varied as the more often discussed physical effects,” said Kristen. “Scott and I are looking forward to seeing the new mental health offerings from the Foundation and making a difference in the community.” The Marfan Foundation extends its heartfelt thanks to Scott and Kristen for this generous gift. We are truly appreciative of their commitment to the Marfan and related conditions community.
p Scott and Kristen Griebel
Kate Jurgens is one of the founding board members of the Loeys-Dietz Syndrome Foundation and served on the board from its inception to 2014. Kate’s daughter, Mo, was diagnosed with a genetic marker in 2004 that would later be named Loeys- Dietz syndrome, Type 2. Mo, who was nine when diagnosed, is the only person among her three siblings and her parents to have LDS. Many surgeries (17 in 9 years) and therapies later, Mo finally had a diagnosis and her first of two open heart surgeries in 2005. Since diagnosis, she has endured 11 more surgeries and, like many people impacted by connective tissue disorders, remains under close and careful observation. In 2012, Kate published her book, Mo, a Loeys Dietz Syndrome Memoir, which includes forewords from Dr. Hal Dietz and Gretchen MacCarrick, MS, CGC. “Writing helped me to clear my head,” said Kate, who works as a nurse case manager in high-risk obstetrics, while she and her husband raise their four children. "Journaling has always been a big help to me. I wrote the book to help other families confronting their own medical mysteries or struggling with difficult health situations. I wrote it to help me become a better nurse. The book describes my three- pronged approach of medical mystery discovery in cooperation with medical staff, what it’s like to be a nurse and a mother of a chronically, sometimes KATE & MO
critically ill child while raising my other children, and how the experience remolded my Catholic faith.” Kate’s book is used in the Marquette University College of Nursing graduate nursing program, helping students explore family-centered care and communication. Kate and Mo find it very rewarding to discuss the book with students each semester and contribute to their nursing care for others. Mo, now 25, is currently three years into her own nursing career at her home away from home, Wisconsin Children’s Hospital, caring for infants through toddlers on a respiratory unit. Mo brings a unique perspective to her patients and their families, truly understanding some of their experiences. The added bonus is that she is near her own healthcare providers if needed. She is lucky to be treated in a facility that has an adult congenital heart program and has developed great relationships with a number of her providers whom she sometimes works alongside while caring for her own patients. Kate continues to be an advocate and supporter of LDSF, often through her writing and photography, as seen on the cover of this edition of Connective Issues . “While writing allows me to empty my head, photography gives me an outlet of storytelling in a different way,” said Kate. “Any kind of photo I can create can be very uplifting or thought provoking. Making photographs helps me capture life – the good, the not-so-good and all the in-betweens. When challenges arise, making photographs helps bring me calm.” Thanks to the passionate and ongoing support of Kate, and many families like hers, we truly are headed for better days ahead.
p Kate and Mo celebrating a family wedding. Photo courtesy of Citrine Pine Photography.
FOR THE CAREGIVER By Ann Thal, Marfan Community Member My week begins on Tuesday now! That is the day of the week that my spouse, Julie, had her heart surgery. (How many weeks since the surgery, how many weeks in ICU, etc.) Julie has Marfan syndrome and,
p Ann Thal, and her wife, Julie Evonna, at the Cleveland Clinic on July 7, 2020, for Julie's aortic surgery.
Once we moved to the rehab hospital, I would go on a hiking adventure after hitting the gym, exploring beautiful lakes and trails. This truly restored me as I feel very connected to the outdoors. Now, I teach horseback riding and we time these outings carefully and around Julie’s care. Let People In: I am an introvert, so I found it challenging to talk to lots of people. I had a friends list that kept growing and I would write daily to a list of about 200 with Julie Updates, which I called Heart Beats. It was cathartic on so many levels. I shared what inspired me and recounted each day to our friends. I cherished emails and texts from friends and a few friends came to stay with me intermittently. I was grateful for the company. Lean on your friends and let people help you. This continues to be a valuable lesson for me. Look Inward : I love reading theologians from many belief systems and religions and found comfort and strength through their words. I also explore new music, old favorites, and music Julie and I loved together. Listening to podcasts during my workouts helped to settle my mind. I learned a lot this way and have one podcast that has really helped me with my meditation practice. I am fortunate to have a long-term relationship with my therapist and increased my sessions in order to process all that was happening. Physical Health : I would go for walks regularly. I worked out every morning at the gym following strict protocols to stay safe. I listened to music and looked for ways to feel more anchored through this surreal experience. My time at the gym always helped my endorphins! I was always so overwhelmed first thing in the morning. My morning sessions of cardio and weights helped me feel stronger for the day ahead. I made it a point to eat well and was so grateful to
after doing our homework, we headed to Cleveland Clinic for
surgery with Dr. Eric Roselli to have her mitral valve replaced, and her aorta root and aorta valve replaced and/or repaired. We planned for a six-hour surgery and arranged our pet sitters for about two weeks of care at our home in South Carolina. This is the short version: Juile’s aorta dissected at the beginning of the surgery and, before she would leave the Cleveland Clinic, she would visit the operating room seven times. She had numerous complications and was in an induced coma for two weeks while her chest remained open. She would spend three months in the hospital, one of those in ICU, before heading to the rehab hospital for three weeks to help her regain strength. As caregivers for people with connective tissue conditions, it’s likely that we all will experience caring for someone through major surgery. Also, as caregivers, we feel the enormity of our responsibility. I think each of us has to find a path that makes sense for our spiritual, emotional, and physical life. Julie and I still have a long road to recovery and every day I am grateful that we have this road to travel together. We work at celebrating the small victories. I remind myself to do the best I can and know that some days “good enough” is good enough! I wanted to be superwoman with Julie and some days that is just not possible! I had to learn how to take care of myself through this to be there for Julie. This is some of what I did during those two months and since: Get Outdoors : I never missed a sunrise or sunset. The hotel on Euclid and my short walk to the hospital afforded me beautiful views of the sunrise and, when I looked left out of my hotel room, I saw the most glorious sunsets somewhere over Lake Erie.
have friends provide meals for me. We live in a small neighborhood. The dog and I do a lot of walks around the neighborhood and this has turned out to be a great time for me to do walking meditations. Learn and Advocate : When I look back, my first thought is that there is no way to be prepared to see someone you love with so many tubes, drains, and a ventilator. I saw Julie’s heart beat underneath a thin layer of gauze. I read, I studied videos, I asked questions. I was her person and I wanted to understand and know everything I could know. I would show the nurses photos of Julie prior to the surgery and share videos of her doing her Djembe drumming. She looked nothing like that person and I wanted them to know who she was. I would remind everyone who cared for her that she is deaf in one ear, that she gets anxious at night, and that she is very sensitive to medication because of Marfan syndrome. I would remind them that she is very flexible and to be aware of hyperextensions of her joints.
I had tremendous trust in the teams and valued the open communication. I believe it is paramount to choose doctors and a hospital that you thoroughly trust as the facility and the doctors will become your partner in this process. Functional: As far as the functional components of care giving, I thrive with a schedule. I keep a notebook with medications (AM, PM, and other times) and a place to monitor blood pressure and heart rate. When I have questions, I send a message to our cardiologist at the Cleveland Clinic. I also reach out to an internist we work with locally. It has been helpful to find out what supplies we will need in advance and keep them well-stocked at home. Read side effects of medications. Ask questions and then ask more questions. Bottom Line : This is hard! Be ok with your feelings. Whether you are sad, relieved, frustrated, angry...be ok with that. They are your feelings. You will feel a hodge podge of feelings, often at the same time. Accept all of it. This is your journey, too.
MOURNING THE LOSS Ann Reinking Ann Reinking, our dear friend and remarkable
Dr. Vincent Gott Dr. Vincent Gott, one of the true pioneers in aortic surgery for people with Marfan syndrome, passed away on November 20, 2020, at the age of 93. Dr. Gott performed the first Bentall procedure at Johns Hopkins for an aneurysm of the ascending aorta in 1976. In all, he conducted 150 aortic and root
volunteer spokesperson, passed unexpectedly on December 12, 2020. Annie was known to the world as an award-winning dancer,
choreographer, and actor. To us, she was a treasured member of the Marfan family, and we all knew that her favorite role was that of mother to her son Christopher, who has Marfan syndrome. Her contributions to the Marfan and related conditions community were many and focused on giving hope, inspiration, and support to families around the globe. The Foundation honored Annie In 2014 with the Priscilla Ciccariello Award and, in 2018, with the Karen Murray Inspiration of Excellence Award. We will be forever grateful for the grace, spirit, and energy Annie brought to everything she touched and the magic she brought to The Marfan Foundation for decades. Our thoughts and prayers are with her husband Peter, son Chris, and their entire family.
replacements in patients with Marfan syndrome, and he co- directed the Broccoli Center for Aortic Diseases at Johns Hopkins. A study Gott led in 1986 found that early surgery to repair dangerous weaknesses in one of the heart’s major blood ves- sels could prevent premature death in patients with Marfan. His 1999 paper in Annals of Thoracic Surgery concluded that “Marfan patients with aortic aneurysms can undergo elective surgery with a low operative risk and excellent long-term sur- vival with low morbidity. We feel that elective resection of an aneurysm in a Marfan patient should occur when it approach- es a diameter of 5.5 cm. It is essential that a timely diagnosis be made in this group of young patients.” Dr. Gott’s contributions to the care of Marfan syndrome patients and his leadership in the early days of The Marfan Foundation were tremendous. He was a member of our Professional Advisory Board since its inception and we honored him with the Antoine Marfan Award in 1998. The Foundation offers its heartfelt sympathy to his family and friends.
LIVING POSITIVELY By Liz Gardner, VEDS Community Member A year ago, I was working as a social worker at a job I loved, living with friends, and driving. I had a diagnosis of fibromuscular dysplasia due to beads of aneurysms in my legs, but otherwise, my life was normal. That all changed when I was diagnosed with Vascular Ehlers-Danlos Syndrome (VEDS) in September 2019. It started with two weeks of severe neck pain, which was treated as ear infections. One day, I was playing with my younger cousin at home and, by the next day. I knew I needed to get help. I could not move my neck and it had developed a lump. The hospital initially diagnosed it as a salivary gland infection. My mom, Donna, was unconvinced and insisted I be transferred to Massachusetts General Hospital (MGH) after I had a small seizure. At MGH, they discovered that the fluid was not caused by an infection, but I actually had a subclavian artery dissection. In the operating room for this dissection, they also discovered I had a vertebral artery dissection, as well as a large bleed in my chest that required a chest tube. I had suffered a pulmonary embolism in my right lung, and an ultrasound discovered a hematoma. I was intubated for half of the week, and additional scans revealed I had had a variety of strokes. I was discharged from MGH in October with a suspected diagnosis of VEDS, which was later confirmed through
p Liz Gardner (center), and her moms, Cathy Griffith (left) and Donna Gardner (right).
genetic testing. I only have patchy memories of what happened the first few days in the hospital, and I am really grateful that my moms, Cathy and Donna, were such great advocates for me during this event. Overall, I spent three weeks in the hospital, and then two weeks in rehab. All of this happened a month before my 29 th birthday. My life has changed a lot since last year. After additional strokes and injuries, I lost right-side peripheral vision and gained partial paralysis of my left hand. I moved back in with my parents. I can no longer work or drive. However, I have learned I am a fighter. Since all of this has happened, I have grown closer to my family than I ever have been before. I have found other hobbies I enjoy. I am learning to bake and enjoy doing crafts. I am also walking every day. Although my life has changed, I can say I am okay with that because of the positive things in my life.
Timo Söderlund FIRST INTERNATIONAL ADVISOR ADDED TO FOUNDATION BOARD In November, the Foundation’s Board of Directors named Timo Söderlund, of Sweden, as a Board Advisor. Timo, who is the founder of Aortic Disease Awareness Day and Think Tank Aorta, is the first international representative to serve in a Board position. “Timo is a long-time patient advocate who has been a driving force in aortic disease awareness and patient and medical education around the world. He has leveraged his
business acumen, marketing skills, and networking prowess to connect with the medical community and patient community worldwide,” said Cory Eaves, Chair of the Foundation’s Board of Directors. “We look forward to collaborating with Timo as we further expand the reach of our programs and services and create greater connections with the global community.” Timo, an aortic dissection survivor, began his efforts shortly after his recovery when he was seeking other aortic dissection survivors for conversation and connection. Eventually, one of his children was also diagnosed with the same underlying condition that he has – bicuspid aortic valve. Timo is looking forward to helping the Foundation advance its international efforts. “Organizations like The Marfan Foundation are essential in promoting continued research and sharing the findings of research globally. By making information available to more medical professionals who diagnose and treat people with familial aortic diseases, we can help more families around the world,” he said. Visit Marfan.org for a full list of the Foundation’s Board of Directors and Board Advisors.
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 September 16, 2020, and December 16, 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.
Vega "Foxy" Kusin Haley Langford Julie Lauren Jentry Leffler Sydney Lerman Barbara Levy Destiny Lomonte Tristan Lux Jan Lynch Eleanor Magel-Lubka Bella Marin Allyson Marisch Al Matsuura Peyton Matthews Bill Mintz Macon Mitchell Robert Montague Madeline Moore Sarah Moore Karen Murray Angelo Nania, Jr Fiona Neylon Joshua Nowak Florence O'Sullivan Roberta Pfleging Precy Piape Cameron Ponton Kristi Posival Bob Posival Anne Power John Pumilia Dr. Reed Pyeritz Sheryl Radin Oliver Raff Grant Rambo Rolland Randant Peter Reese Dawn Reiner Nicole Reiner James Richardson Doug Roth Colin Shields Kathy Sloan Jonny Smith Avery Somers Chelena Sotraidis Ethan Stambler Erin Steger Camden Tanner Andy Tenney The VEDS Community Samantha Thomas Kayley Tigges Margaret Tucker Kiara Updike Alexander Utz Brooke Roth Cole Schmidt Paul Schrope Ava Shaw Lilly Shaw
Julie Vogelsang Jennifer Volpe Bella Walker Emily Wheeler Averie Williams Isabella Williams Connor Wilson Denise Winter Andrij Witiuk Roxyana Wolvreina Sam Woodhouse WPLG Inc. Katie Wright Dennis Yaschik Tony Yasick
Margaret Hammer Lois Hawbaker John Heinemann Shawn Heldt Chad Herrera Marilyn Higdon Joy Hobson Robert Houston Eileen Ilberman Ann Jarosz Renee Jessup Deegun Kaster Deegan Kaster Greyson Kim Emily Korff William Krajewski Brian Laughman Alexa Lawrence Milan Lazorcik Allyson Marisch Norman Martin Julie Kurnitz William Kutz
Donations In Honor Of
Cameron Allen Micah Amdur-Clark
Amy Avitabile Leo Azarrafa Maren Bain Brandy Banks Hotchkiss Joshua Barber
Elinor Bashe Buddy Beard Kayron Beiram Ricardo Belchior
Gavin Bennett Jodi Bertoldo Zoe and Izaak Boeglin Meg Boeglin Allie Boo Matthew Bostock Gladys Brady Beth Brobst
Donations In Memory Of Carol, Adrian, and Elias Adame Duane Alf
Kaitlyn Anthony Stephanie Baker Joshua Barber T.J. Barulli Buddy Beard James Bigelow Charlene Bordelon
Radika Brown Ella Butterfield John Chauhan Leo Cole Angela Crist Easton Crockett Kay Daufenbach Lisa Decoursey Ann DeFeo Dr. Hal Dietz Damian Dockery Karsten Doss Robert Douglass Joe Doyle Donald Drummer Gabriella Earnhart Allison Fulop Philip Fusaro Adian Gareis Leila Gendron Judy Gibaldi Elka Golda Heather Gooch Drew Graves Lisa Hajj Connor Hajj Lois Hawbaker Beckett Hotchkiss Gail Jehan Cassie Jennings Jason Kassa Jay Elliott Erik Elliott Andy Erikson Allan Filler
Al Matsuura John McRae Huck Moore Andy Morrell Elmer Morris Grace Nakata
Michael Brandt Carol Brennan Bonnie Brown Steven Brown Paul Burke Amy Caparaz Sarah Cayo
Angelo Nania, Jr Joseph Neustadt Anne Newman Michael Nygaard Mark Oesterlin Ed Page Hunter Paproski Christopher Paulsen Pamela Pearon James Reid
Aileen Cheng Nancy Conger Rita Connaughton Crystal Cushing Blaise Dafoe Peter deBlecourt Michelle DeVasure Doris Disbro Sara Edmiston Sami Eladhari Andy James Elam Peggy Encinia Maria Estrera Christopher Fabing Ben Faust Ida Fee Kit Fong Lai Melodie Friesen Philip Fusaro Matthew Garbe Bruce Gold Stephanie Green Andrew Gross Jason Grossi Gabriela Guaipatin
Ann Reinking Jadzia Renaud
Andrew Rexroth Andrew Rigney Luis Rodriguez Montesino Julie Roos Marilyn Ruth Richard Saverzopf Robert Seigle William Selvitelle David Sherman Dalton Spann Michelle Swindle Larry Taylor Wendy Weiss Jessica Westmoreland Averie Williams
David Willson Denise Winter Christina Wood Stephen Yakimovich
Bonnie Kawell Karen Kitchen Jeremy Kravitz
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