Connective Issues Winter 2019

CONNECTIVE ISSUES WINTER 2019

Know the signs. Fight for victory.

“Somewhere, something incredible is waiting to be known.” – Carl Sagan because we know a number of medical breakthroughs for people with Marfan syndrome and related conditions are on the horizon, 40% of our overall expenses this past

Contents RESEARCH & PROGRESS 3–8 RELATED CONDITIONS 9 WALK FOR VICTORY 10 ANNUAL CONFERENCE 11 EDUCATION/AWARENESS 12–13 CREATING CONNECTIONS 14 TRIBUTES 15 resource for families and healthcare providers, and raise public awareness. We will not rest until we have achieved victory. Learn more and get involved at Marfan.org . The Marfan Foundation creates a brighter future for everyone living with Marfan syndrome and related conditions. We work tirelessly to advance research, serve as a

year went to research initiatives and grants. we funded a total of $1.5 million in research, including seven new grants, and four of those went to first time applicants. Additionally, we are funding the AVooS Valve Sparing Trial which looks at the results of the valve-sparing aortic root replacement operation and composite valve graft operation through 2021. in addition to our traditional research grant program, we launched our backpack Health patient registry last May and are now in 48 countries with more than 850 individuals with Marfan and related conditions enrolled. The end goal is to have thousands of people enrolled with de-identified aggre- gated data available to researchers, which will ultimately lead to increased understanding of these conditions and enhanced diagnosis and treatment. This support is all made possible by a number of very generous donors who share our enthusiasm for the vital importance of research. Finally, i would like to draw your attention to The Marfan Foundation taking the lead role in the global Aortic disease Awareness day on September 19. Thanks to a wonderful opportunity presented by Timo Söderlund, of Sweden, we are working towards uniting the international community, accelerating awareness, and saving lives around the world. Thank you, Timo, for your leadership and the trust you have placed in The Marfan Foundation. we are honored to follow in your footsteps and to have you as our partner. All the best for good health and wonderful moments in the year ahead.

Sincerely,

Michael weamer president & Ceo

CONNECTIVE ISSUES winTer 2019 VoLuMe 38 | nuMber 1

“As of today, my artificial heart valve has been helping me blow out birthday candles for more than 30 years.” – Chris Heaney, Marfan Volunteer Leader Chris received his heart valve in 1984 and lives an energetic life with his partner, Sayler, because of research advances over the last 25 years. And, thanks to your support and confidence, The Marfan Foundation remains in the forefront of funding and promoting the critical need for research on Marfan syndrome and related conditions.

THe MArFAn FoundATion 22 MAnHASSeT AVenue porT wASHingTon, ny 11050 516-883-8712 | 800-8-MArFAn MArFAn.org

CoVer: KATie dAMMAnn, oF roSeburg, or, wHo iS inVoLVed in SeVerAL reSeArCH STudieS To idenTiFy Her exACT gene MuTATion.

THiS iSSue oF ConneCtive issues iS MAde poSSibLe THrougH A grAnT FroM bLooMberg pHiLAnTHropieS And THe CHu And CHAn FoundATion.

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VOICES IN OUR COmmUNITY

“From the beginning, The marfan Foundation has supported life-saving research, and it has undertaken awareness initiatives to get the word out to parents, medical professionals and school personnel. My son Andy, now 41, has benefitted greatly from the Foun- dation’s support of life-saving research and its many awareness initiatives.

Andy was fortunate to have been diagnosed at age 4 because of an alert eye doctor. The marfan team at Stanford gave us hope when we were first coping with the diagnosis. Articles in Connective Issues , like those on sleep apnea and dissection, kept us informed and better able to make wise choices. Andy received cutting edge drug treatments that slowed the growth of his aorta to delay his first heart surgery until he was 21. He was blessed to have brilliant surgeons at Stanford and at the University of Washington. Because of these successful interventions, Andy is now enjoying a full life with meaningful employment, a lovely wife (Leann), and two lively children (Ben and Lily). The Foundation provided the bond that has connected us to the broader community of patients, families, researchers and practitioners. The Wagele Family is deeply grateful for the information, the support and the care we have received for 37 years!” – Joan wagele, issequah, wA “I was diagnosed with marfan syndrome when I was 15. Neither of my parents have it, so it came as quite a shock. As a basketball player and someone whose dream was to serve their country, this was devastating news. Andy And LeAnn wAgeLe, wiTH ben And LiLy

The diagnosis completely changed the course of my life. I now work in healthcare administration because I knew I wanted to make a difference in the lives of patients and families going through difficult times like I once did. The road has not been easy with visits to various specialists, aortic root replacement, lens removal, and a retinal detachment. However, I find so much hope in the progress that has been made in diagnosing, treating, and managing Marfan syndrome and related conditions. my support of the Foundation enables me to play a small part in helping to provide hope to people living with these conditions and families with loved ones who are living with them.” – Kiefer Jundt, Madison, wi pictured (left) with his brother, Mike Hawkins

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2018 Research Grants Seven grants awarded totaling $750,000 The Marfan Foundation awarded $750,000 for its 2018 research grants on Marfan syndrome and related conditions. This included two fellowship awards, three faculty grants, and two grants for clinical research. The funded projects are seeking better understanding and treatments for several aspects of Marfan syndrome (sleep apnea, pregnancy, eye issues, cardiovascular issues), as well as vascular ehlers danlos, a condition that is related to Marfan. in addition, a study on neonatal Marfan syndrome is being funded. “we are pleased by the variety of grants we were able to fund this year as they address many different aspects of Marfan and related conditions,” said dr. Josephine grima, chief science officer, The Marfan Foundation. “we are also gratified to fund four proposals from first-time applicants and award grants to researchers ranging from fellows to seasoned experts. This bodes well for the future of scientific exploration in genetic aortic conditions.” in addition to the newly awarded research grants, the Foundation provided another $750,000 this year in research support for the Aortic Valve Sparing operative outcomes Study, the establishment of the Marfan and related disorders international patient registry with backpack Health, as well as funding for 15 researchers who were awarded multi-year grants in the past two years. This brings the Foundation’s 2018 research funding to $1.5 million.

2018 Faculty Grants • Steven bassnett, phd washington university $100,000 2-year grant Modeling ocular Aspects of Marfan syndrome in Mice • Hal dietz, Md Johns Hopkins university $100,000 2-year grant identification of Major Genetic Modifiers of Aortic Dissection in vascular ehlers Danlos • J. geoffrey pickering, Md, phd robarts research institute $100,000 2-year grant Assessment of Aortic Wall vulnerability in syndromic thoracic Aortic Disease by innovative Magnetic Resonance imaging Johns Hopkins university $150,000 2-year fellowship Hemodynamic Response to upper Airway obstruction in Marfan syndrome • yue xuan, phd university of California, San Francisco $100,000 2-year fellowship improved Rupture Risk Assessment of Ascending thoracic Aortic Aneurysms: influence of Marfan syndrome on Aneurysm Biomechanics 2018 Victor McKusick Fellowships • Mudiaga Sowho, Md, MpH

2018 Clinical Grants • dianna Milewicz, Md, phd uTHealth Mcgovern Medical School $100,000 2-year grant

Asprosin’s Role in the Appetite and Progeroid Appearance of Marfan Lipodystrophy syndrome and neonatal Marfan syndrome Patients • Melissa russo, Md women & infants Hospital of rhode island $100,000 2-year grant Pregnancy and other Reproductive outcomes in Women with Genetic Predisposition for Aortic Dissection

geoFFrey piCKering, Md, phd

To make a donation in support of research and progress, please go to Marfan.org/ResearchToday

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I’m LIVING PROOF OF RESEARCH ADVANCES by Chris Heaney

those of us in need of ways to make our lives better now. As someone who has lived enough years to call himself a “High Mileage Marfan,” i'll share with you examples of the changes i’ve seen in clinical care over the years. i was born in the mid-1950s, when the life expectancy for Marfan was only 30 years. However, in that same decade, the heart-lung machine was first used in human surgery, and the 1960s saw the development of the first mechanical heart valves. by the time i needed my aortic valve replaced in 1984, all the pieces were in place to change the picture of my longevity. This past year, i went in for my annual echocardiogram and the tech doing the study commented that she had heard of the type of valve i have, but she had never seen one before. in that moment i realized my artificial heart valve was older than the tech doing my echo. This is exactly the

CHriS HeAney (CenTer) wiTH HiS pArTner, SAyLer SHiningSTAr, And dr. HAL dieTz, oF JoHnS HopKinS, A MeMber oF THe FoundATion’S proFeSSionAL AdViSory boArd And A 2018 reSeArCH grAnT reCipienT.

type of big leap forward you hope to get when you do the research into the kinds of pumps, filters, catalysts, medicines, and materials needed so my worn out heart valve at 28 years old wasn’t the end. As of today, my artificial heart valve has been helping me blow out birthday candles for more than 30 years. The research being done today will help refine our understanding of who’s a good candidate for [valve sparing surgery] and how the repairs hold up over time. we're now in the next phase of heart valve repairs, where valve-sparing surgery, which has the benefit of avoiding the need for long-term anti-coagulation therapy, is an option for some. The research being done today will help refine our understanding of who’s a good candidate for this approach and how the repairs hold up over time. biochemical research may one day lead to the identification of markers for who is more likely to develop vascular problems and possibly even non-surgical methods to avoid decline of tissue function.

“Research is what I'm doing when I don't know what I’m doing.” – Wernher von Braun each year The Marfan Foundation provides substantial funding for research grants. often the topics of the grants can seem esoteric or downright incomprehensible to most of us who are simply working on living well with a connective tissue condition. research is about working to understand how things operate at a fundamental level rather than applying what’s already known to build a particular thing. it may also take the form of refining new tools and techniques to make it easier to set up experiments. The hope is deeper insights will be gained as we understand more of what’s happening at a fundamental level, and that, in turn, may lead to big leaps forward in treatments. often the payback from research is only seen over time, and may come about from an angle the investigators never imagined when they began their work. The challenge of research is its uncertainty of outcome on a timetable we can’t determine—a difficult playing field for

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Another place i’ve seen the impact of research is in orthopedic surgery. Like many with Marfan, i developed severe scoliosis. At the age of 12 i had surgery to fuse all my thoracic vertebrae. This was a major undertaking and i spent more than a year in a body cast, half of that time flat down in bed. in 2013, i needed more surgery—my entire set of lumbar vertebrae needed to be fused, bone spurs on each vertebrae removed, two discs removed, and two vertebrae opened up to widen the channel for my spinal cord. This was a surgery i never wanted to have, yet i needed it to deal with relentless pain from pinched nerves and the bone deterioration going on. This time, there was no body cast involved and they had me stand up the day after surgery. After a few days i transferred to a rehab floor and began physical therapy twice a day, which i hit like rocky getting ready for the big fight. i knew that the more i moved and learned how to work with my newly refurbished body, the faster i’d recover. i learned more about what had changed about fusion surgery in the 40 years since my first surgery. First, the hardware had gotten better; multiple rods that are curved to match the natural curve

BULLYING STUDY UNDERWAY

researchers at Johns Hopkins Medicine are interested in bullying and cyberbullying (online bullying) in the Marfan population. According to the researchers, bullying and cyberbullying are reported in approximately 21% and 34% of the general population. They are trying to understand if these numbers may be different in those living with Marfan syndrome. Adolescents between the ages of 12–18 years and their parent/ guardian are invited to partici- pate in an online survey about this topic. This survey must be filled out together and in one sitting. The questionnaire involves questions about demo- graphics, bullying, cyberbullying, and resilience scales, as well as an opportunity to give your points of view on this topic. it should take about 20–40 minutes. your answers will be anonymous and confidential (no one will know your personal information or how you answered the questions). you will not get paid for partici- pating in this survey, but at the end you can choose to submit your email address for the chance to win a $25 Amazon gift card. For more information, including how to participate, visit the research section of our website or bit.ly/JHU_BullyingResearch .

... because of ongoing research, surgical techniques are providing better and better results with less and less burdensome impact.

of the spine were devel- oped. Computer aided imaging let the doctor line up each screw for insertion and show an image of how it would go into the bone

when screwed in. This protected against the

possibility of damage to the spinal cord. one of the surgery team members worked a device to send and receive signals down the spinal cord to monitor for any unex- pected damage to the cord. These kinds of advances let them secure the rods to two screws in every vertebrae, spreading the mechanical stresses across multiple screws and lessening the chance of failure in a screw. All these different bits and pieces came together for my surgery and i benefited from lessons learned about the long-term outcome of those surgeries 40 years ago, advances in materials, and the merging in real-time of x-ray images and computer generated images. what it meant for me was that i had surgery in mid-november and by late december i was decorating my Christmas tree with friends, having already packed away the walker i’d used during recovery and more free of pain than i’d been in a decade. it’s a challenging part of life for those of us with a connective tissue condition. Too often we are faced with needing complex treatments to maintain or restore our health. As someone who’s first surgery happened over 55 years ago, i’d like to leave you with hope that, because of ongoing research, surgical techniques are providing better and better results with less and less burdensome impact. My hope is for you to find a way to support research efforts knowing that it will help ease the life of another, even if it takes a while. “Research is how I help others when I don’t know them or what they need.” – Chris Heaney

Chris Heaney is a former member of the Foundation’s Board of Directors. He currently lives in north Carolina.

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CHARTING NEW WATERS AND HELPING OTHERS Maryland mom puts her health information to good use for future generations

BACKPACK HEALTH AND THE MARFAN FOUNDATION FIRST SURVEY LAUNCHED The Foundation is driving the collection of useful information and statistics in the Marfan Syndrome and related disorders registry through surveys that are distributed through the backpack Health app. The first survey was launched at the end of 2018. it asks about diagnosis and features, as well as genetic testing results. it takes only five to ten minutes to complete. Like all information in backpack Health, it is private and secure. Those who subscribe to backpack Health, can access the survey through their personal backpack. Those who want to participate in research surveys can simply subscribe to backpack Health (it’s free!), access and complete the survey, and then securely upload their medical information. FIND OUT MORE For more information on the Marfan Syndrome and related disorders international patient registry, please visit marfan.org or bit.ly/JoinBackpack .

At the Foundation’s 2017 annual conference, Stacy paulsen, 58, of ocean pines, Md, was introduced to backpack Health, an app that offers people with Marfan and related conditions—and their families—an easy and secure way to manage their healthcare records. The app was designed specifically for those living with complex, rare, and chronic conditions. Stacy found a lot of practical benefit from backpack Health for herself and her family. but keeping track of medical records is only one advantage of the app. Stacy is also excited about the Marfan and related disorders international patient registry, which The Marfan Foundation created through backpack Health. This gives her a way to poten- tially impact future treatments of Marfan and help others who will be navigating the challenges of Marfan syndrome in years to come. Hopefully, by uploading my medical information into the registry, it will be useful to researchers in the future. “As an older ‘Marf,’ i may be charting new waters, such as, is my arthritis normal for aging or is it worse because of my height? what’s going to happen next with my eyes and the surgeries i’ve had as time progresses? Hopefully, by uploading my medical information into the registry, it will be useful to researchers in the future.”

STACy pAuLSen

Getting Started After setting up her account, Stacy started the process of entering impor- tant diagnostic, treatment, and testing results into the app for herself and her daughter, who also has Marfan syndrome. She’s been adding more information with each new doctor visit and procedure so it is handy for her future needs. in addition, because she consented, all of this medical information is then de-identified so it can’t be traced back to her and aggregated (combined) with information provided by others and added to the registry. The process is safe and secure—no personal identifying information is shared. Stacy paulsen knows first-hand that it is a relief to get a handle on her family’s stacks of medical information. but it feels even better when it means helping others on the same path along the way.

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GETTING THE RIGHT DIAGNOSIS IS LIFE-SAVING Knowing the difference between Loeys dietz and Marfan is critical

LOEYS DIETZ AND ALLERGIES Loeys dietz syndrome and Marfan syndrome have several overlapping features, but they differ in several ways. According to dr. Hal dietz, who gave a presentation on Loeys dietz syndrome as part of the Foundation’s Virtual Medical Sym- posium Series, allergies are quite common among people living with Loeys dietz syndrome. Food allergies that are most often seen in those with Loeys dietz are similar to those most often seen in the general population. Children may experience allergic reactions to milk, eggs, peanuts, soy, wheat, and fish. Adults more often experi- ence reactions to peanuts, other tree nuts, and fish, especially shell- fish. Seasonal and other allergic conditions, such as asthma and eczema, are more frequently found in Loeys dietz syndrome than in the general population. reactions can range from chronic and low- grade to acute and life-threatening. dr. dietz advises that people with Loeys dietz avoid decongestants, which can stimulate the heart rate and increase blood pressure, resulting in further negative side effects. dr. dietz recommends that indi- viduals discuss their allergic reac- tions with their primary care provider. Those with Loeys dietz syndrome can also benefit from evaluation and management by an allergist. Make sure the allergist is aware of the Loeys dietz diagnosis and current medications. To watch a recording of the presentation from dr. dietz about Loeys dietz syndrome, visit the Virtual Medical Symposium series on the Foundation’s website.

The Snyder family’s experience with connective tissue conditions began in 2001, before Tracy and Chris Snyder, of noblesville, in, were even married. Chris’ father passed away on Thanksgiving from what was later determined to be an aortic dissection. The coroner suggested the family look into Marfan syndrome, in 2005, their daughter, AvaLynn, was born. After several months of ear infec- tions and difficulty with nursing, Ava was given a cleft palate diagnosis. She under- went corrective surgery at 16 months old, but Tracy was still noticing lots of other unsettling things. She had frequent urinary tract infections and fevers, and her little body would “snap, crackle, and pop” during routine movements like diaper changes. Two years later, olivia made her way into the world and appeared, at first, to have not inherited the cleft palate. but as she cried and nursed, her palate opened up, putting olivia on a path of recurrent ear infections and tubes, just like her older sister.

oLiViA (LeFT) And AVA Snyder

At age four, Ava tested negative for Marfan syndrome, a possibility Tracy and Chris had kept in the back of their minds. Her negative test, exceptional height, and hypermobility left Ava with an “unspecified connective tissue disorder” diagnosis. olivia went undiagnosed for a while longer after being dismissed for testing because she did not present classic outward signs of a connective tissue condition. it wasn’t until the family attended the Foundation’s annual conference in 2009 that they got their answers. At our free clinic there, the girls, along with their father, were evaluated. Chris, it turned out, had an aneurysm in his aorta. The clinic doctors, who happened to include dr. bart Loeys, spent hours with the family and gave a clinical diagnosis to all three—Chris, Ava, and olivia—of Loeys dietz syndrome. “The Loeys dietz diagnosis brought peace to our family, “said Tracey. “we knew all along that something was not right and a veil of uncertainty was lifted.“ A year after the diagnosis, Chris underwent valve-sparing root replacement surgery. All three are now under medical care appropriate for Loeys dietz syndrome. Cleft palate is one of the many features that affect people with Loeys Dietz, but not people with Marfan. For more information about differentiating characteristics, please visit Marfan.org.

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WALK FOR VICTORY

“IT’S NICE KNOWING I HAVE SOMEONE I CAN CALL WHO’S BEEN THROUGH IT” Walk for Victory provides connections that give hope for the future

Getting a diagnosis for a chronic condition comes with layers upon layers of information, emotions, and questions. How will day-to-day life need to change in light of the diagnosis? Will family and friends understand? What does this mean for the future? These are just some of the concerns Nikki and Brett Bobbe, of Stilwell, KS, had when they learned their son, Elliott, 3, has Marfan syndrome. The genetic counselor at Children’s Mercy Hospital in Kansas City gave them a packet of information, which included information from The Marfan Founda- tion. The couple quickly discovered that the Foundation’s Walk for Victory was coming to St. Louis, within driving distance. According to Nikki, getting involved in the Walk for Victory was

TEAM ELLIOTT CAME OUT STRONG TO THE ST. LOUIS WALK FOR VICTORY TO SUPPORT ELLIOTT BOBBE AND HIS FAMILY.

one of the best steps they took in learning to support Elliott. The Walk was fun and welcoming, and an easy way to get to know others who know what it’s like to have a young child who lives with Marfan. Elliott is the first in his family to have the condition so the Bobbes found it refreshing to meet other people, especially kids, who also have it. “Seeing older kids and adults with Marfan gave us a picture of what Elliott’s future might look like,” said Nikki. “That’s so helpful and reassuring.” It also helped them solidify their community of support. Not only did the Bobbes’ family and friends build an enormous network of support for Team Elliott, but Nikki and Brett also made connections with other families like theirs. It’s only been about a year since Elliott’s diagnosis, but for him, life continues as it was, just now with glasses. The Bobbes are still asking questions, learning, and figuring out how to provide the best life for Elliott. But thanks to the St. Louis Walk for Victory, they aren’t doing it alone. One of the families they met at the Walk has a son close to Elliott’s age. He had recently undergone the surgery that is likely in Elliott’s future. Nikki said, “We have great doctors who we trust, but it’s so nice knowing I have someone I can call who’s been through it.” Reaching out to others and getting connected has brought reassurance and friends who helped put hope into a year that was full of questions and uncertainty. Making connections cannot eliminate the anxiety and concerns that come with a new diagnosis. But building a network of support through an event like Walk for Victory makes it easier (and more fun) to figure it out. We hope you will join us at a Walk for Victory near you in 2019.

WALK FOR VICTORY 2019

South Florida

January 27

Houston

March 2 March 9 March 9 March 10 March 16

North Carolina Birmingham (AL)

Phoenix Atlanta

Cleveland March 31 Southern California April 13 Milwaukee May 19 Boston June 2 New York City June 15 Minnesota TBA Portland (OR) TBA San Francisco TBA Washington, DC TBA For more information and links to register, visit Marfan.org/Walk.

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THE MARFAN FOUNDATION 35TH ANNUAL CONFERENCE SAVE THE DATE

Create long-lasting connections Enjoy special programs for children, teens, and young adults Learn from leading medical experts on Marfan syndrome, vascular ehlers danlos syndrome, Loeys dietz syndrome, and other related conditions And so much more! select offerings will also be available in spanish.

in association with

JULY 11–14, 2019 | HOUSTON, TX Registration is coming soon! Marfan.org/Conference19

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eduCATion/AwAreneSS

AORTIC DISEASE AWARENESS DAY

NEW STENT RECOMMENDATIONS

The Marfan Foundation is proud to announce that it is partnering with Timo Söderlund, of Sweden, to lead the worldwide Aortic disease Awareness day on September 19. Timo, a former Ceo who lives with aortic disease, has been incredibly successful in estab- lishing and expanding this life-saving awareness effort. “The participation of hospitals and physicians worldwide is remarkable and we could not be more impressed by the impact Timo has created globally in just a few short years,” said bert Medina, a member of the Foun- dation’s board of directors who made the announcement by video on december 14 at the international Congress Aortic Surgery—peripheral and Venous “How to do it” meeting for cardiac surgeons in Milan, italy. The Marfan Foundation has always focused on life-saving education and awareness. For

in december, the Foundation released a statement from its professional Advisory board (pAb), comprised of leading medical experts on Marfan syn- drome and related conditions, asserting that thoracic endovas- cular aortic repair (TeVAr) and endovascular aneurysm repair (eVAr) are not the optimal treatments for aortic aneurysm and dissection in patients with Marfan and related connective tissue conditions. The pAb indicates that the use of endovascular stent grafts is not recommended for those in our community because of a high risk of complications and a high rate of re-operation. Conventional “open” surgical repair for aneurysms and dissections remains the gold standard and ideally should be performed at highly experi- enced surgical centers. This recommendation is based on data primarily from patients with Marfan, but also may apply to related connective tissue conditions, such as vascular ehlers danlos and Loeys dietz syndromes, as well as familial thoracic aortic aneurysm conditions. More information related to these recommendations and management guidelines for healthcare professionals are available on the Foundation’s website.

AwAreneSS MATeriALS For AorTiC diSeASe AwAreneSS dAy, LiKe THiS, Are AVAiLAbLe For 80 CounTrieS.

nearly 25 years, we have had programs that specifically focus on aortic disease awareness for people with Marfan syndrome, as well as other genetic conditions such as vascular ehlers danlos syndrome and Loeys dietz syndrome. For the past two years, we have been proud to participate in Aortic disease Awareness day to raise awareness for all risk factors. “we know Timo has had help in this undertaking from so many patients, volunteers, and doctors who are leaders in the field and champions for aortic dissection awareness. we look forward to working with partners around the globe to ensure the continued growth of Aortic dissection Awareness day,” said bert. “Timo will be working with us as a valued advisor. Together, we can unite the community, accelerate awareness, and save lives around the world.” Stay connected to Aortic disease Awareness day on its Facebook page. FEBRUARY IS MARFAN AWARENESS MONTH FOLLOW US ON SOCIAL MEDIA TO GET INVOLVED! #AWARENESSFEELSGOOD

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The Marfan Foundation hosts regional symposiums on Marfan syndrome and related conditions around the country to provide education, support, and networking opportunities for individuals and families. The symposiums also enable participants to meet local doctors who are experts on these conditions. For many attendees, the regional symposium is the first time they meet doctors who are experienced and up-to-date on Marfan syndrome and related conditions. For many attendees, the regional symposium is the first time they meet other people with the same diagnosis that they have. REGIONAL SYmPOSIUmS bringing education and support to communities nationwide

EMPOWERMENT SERIES IN 2019 our Marfan Syndrome and

related Conditions empowerment Series continues in 2019 with three webinars that can help you improve your quality of life. January 22, 8 PM Eastern roanne weisman, MSw, (below) and barbara Kivowitz will give a presentation on relationships and chronic conditions. The two will share information and tips from the book they co-authored, Love in the time of Chronic illness . roanne herself has Marfan syndrome.

First Southern California Regional Symposium registration is now open for our first Southern California regional Symposium on Marfan Syndrome and related Conditions on February 23. Among the featured speakers is dr. robbin Cohen, a cardiothoracic surgeon who is the medical director of the uSC genetic Aortic & related disorders Center, Keck Medical Center of uSC.

“we are proud to host the first Southern California regional Symposium and to welcome attendees to our Keck/uSC Medical Center Campus,” said dr. Cohen. “our one day program is designed to educate and promote wellness when it comes to Marfan syndrome and related conditions. we look forward to sharing our expertise, as well as hearing the stories and recognizing the needs of the Southern California community.” Topics to be covered are: • what’s new in the genetics of Marfan and related Conditions • eyes in Connective Tissue Conditions • bones & Joints in Connective Tissue Conditions • Aortic Complications & Aortic Surveillance • Aortic Surgical options for patients with Marfan Syndrome and related Conditions • reproductive planning, Talking about the diagnosis, Transition of Care There will be opportunities to ask questions of the expert presenters and to connect with other attendees who have Marfan and related conditions. in addition, we offer a fun, age-appropriate program for children, ages 5–12, that will include arts & crafts, games, movies, and a chance to make new friends. Children will be supervised by professional staff. The cost to register is $30 per person. registration is free for children, teens, and medical students. breakfast and lunch are included. register at Marfan.org/USCSymposium . dr. robbin CoHen • The Affordable Care Act and pre-existing Conditions • An emergency Transport network for Aortic Care • wellness & Meditation

March 14, 8 PM Eastern Taylor beecroft, MS, CgC, genetic counselor at Texas Children’s Hospital, will give a presentation on the role of genetic counselors and how they can help you navigate your medical journey. May 22, 8 PM Eastern Melissa Flint, psyd, Midwestern university, will give a presentation about how to cope with depression, anxiety, and anger. registration for our webinars is free, thanks to the generosity of the Chu and Chan Foundation. Simply visit the empowerment Series on our website and click on the registra- tion link. All webinars are recorded and can be viewed at a later date.

Save the Date Additional regional symposiums are being planned for 2019, including in Baltimore on May 4 and Seattle on June 1. For more information, visit Marfan.org/regionalSymposiums.

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CreATing ConneCTionS

CAmP VICTORY IS COmING SOON! opportunities for children to share a safe and normal experience

Camp Victory for Kids for children and teens, ages 7–18, an opportunity to have an independent camp experience. Children participate in all camp activities, such as lake swimming, boating, archery, arts and crafts, dances, camp- fires, and much more in a safe environment using only therapeutic and adaptive equipment. when your child shares these experiences with their peers, they create memories that can change them forever. both Marfan camps include accommodations and all meals. A Marfan-knowledgeable nurse is on-site throughout. The camps are located in winder, gA, approximately 50 miles from Atlanta. For more details, please visit Marfan.org/Camps. if you have any questions, please contact Susan Leshen, LCSw, sleshen@marfan.org. my son attended Camp Victory last year. He cannot wait to go back again! Surrounding yourself with your people during the teenage year is so vital to emotional well-being. – Tasha Smith, mom to Rolfe, 17, of Kentucky

new FriendS: (L-r) KeLLer JoHnSon, LiAM neLSon, CATie SHeLey, LeiA HArdiSon, And (in FronT) eMiLy JoHnSon

Summer camps are a rite of passage for many children— where they can learn independence and grow in a safe environment. A regular day camp or sleepaway camp is not always practical or safe for children with Marfan or a related condition. now, children with Marfan and related conditions can have a camp experience in an environment that is safe for them. it also enables them to create connections with other kids who are just like them and form meaningful bonds that can last a lifetime. Benjamin loves Family Camp! He has a great time, and loves being "normal." – Brandi Smith, mom to Benjamin, 5, of Tennessee we offer: Camp Victory for Families for children and teens, ages 5–18, and their parents, grandparents, and/or guardians. it features traditional summer camp activities, such as archery, paddleboats, arts and crafts, mini-golf, and swimming, as well as other standard camp activities that are modified so that all can participate. parents have the opportunity to get involved in activities with their children and participate in professionally-led support groups.

noA ruSSeLL enJoyed ArCHery AT CAMp ViCTory.

Save the dates! Registration is coming soon! Camp Victory for Families—April 5–7, 2019 Camp Victory for Kids—June 30–July 5, 2019

14 Marfan.org

TribuTeS

WE REmEmBER AND HONOR we are grateful to everyone who has made a contribution in memory of, or in honor of, the following individuals. These donations are fully appreciated and support our programs and services that create a brighter future for all those living with Marfan syndrome and related conditions.

CIRCLE FOR VICTORY

The Circle for Victory is The Marfan Foundation’s leadership recognition program for annual support. Contributions may support any designated area of the Foundation or be unrestricted to assist with Foundation priorities. Members of the Circle for Victory are invited to special events, recog- nized with honorary designation in publications, and receive regular special communications. Membership in the Circle for Victory is extended to individuals, couples, families, or family foundations whose total giving between July 1 and June 30 of each year is over $500.

Donations In Memory of: Carol, Adrian, and elias Adame elizabeth Aldred gary Ali Jason baldwin T.J. barulli warren bolt

david pfirrman david ricca Judith ricca ilene roberts Julie roos barry Safiniuk Spencer Sellas Jeff Snyder Arnold Spector Casey Sprouse

david Hillel ezra Jennings Sarah Jones Lois Kaichbaum Joann Kolesar AddisonLatham Jerry Lerman Sydney Lerman Janice Lynch Lenon Maguire Kyle Mann eileen Masciale Susan Meier ben Meiner Lois Meyer Charlene Meyers Matthew Mills paula neil Sebastian newman Michele paul Sunny pellone Steven post James pullins dan randant James richardson Lisa ritell Amanda rivera

barbara bowling Marissa broady paul burke Joseph Casarole Sarah Cayo william Coonan Helen rae Cowell Carol Crews Sean elmore Stephanie green Connie grima Andrew gross Steve Hackett John Hathaway nancy Hathaway John Heinemann barbara Hildenstein Margaret Hummel Ann Jarosz Sarah Jones Julie Kurnitz Kamden Langford Josh Larrison brian Laughman patricia Lawlor idelle Lewin phillip Linder Albert Matsuura bill Meier zola ray Melichar daniel Moyer patricia nicolosi Michael nygaard bill o'Quinn Shirley osman Michele paul Christopher paulsen

James Taylor John Torode nellie Tsuruda gilbert Vieth dalton walsingham wendy weiss Hendricks wells Jim wendling david wolf Stephenyakimovich Donations In Honor of: elizabeth Aldred garrett Anderson

recognition Levels are: • Red and Purple Circle ($500–$2,499) • Champion’s Club ($2,500–$4,999) • President’s Club ($5,000–$9,999) • 1896 Club ($10,000–$24,999) • Chairman’s Council ($25,000 and above)

Jason baldwin Helaine baruch Spencer beery elliott bobbe Alan braverman dennis bryant Austin Carlile Leo Cole Michele Cripps Liam dockery Jay elliott

peter roos noa russell Alexys Scholle Sarah Singh brittany Sipe evan Smolen

For more details and a full list of benefits for each level of giving, please visit our website. if you have any questions, please

nicholas Sumberaz Samantha Thomas Morgan Toombs Kate Torode Laura Torode Hope Vandeventer

Sarah epperson Miguel estrada elizabeth Federspiel beverly Feinstein

contact Megan Martin, mmartin@marfan.org.

Lilly Finnegan Kendra gaddie ira glick Connor Hajj george Halas Alan Hariton

Anna witiuk Colby young Heather young

winter 2019 15

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