Connective Issues Spring 2019

Focus on Growing Stronger Together Spring 2019

GEARING UP FOR OUR ANNUAL CONFERENCE

NEW RESOURCES ONLINE ABOUT vEDS

ONE FAMILY’S EXPERIENCE WITH CAMP VICTORY

AN EXCITING TIME IN THE LIFE OF THE FOUNDATION

The Marfan Foundation creates a brighter future for everyone affected by Marfan syndrome and related 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. Learn more and get involved at Marfan.org.

I hope you enjoy the new look and feel of Connective Issues which celebrates Growing Stronger Together! This is a very exciting time in the life of the Foun- dation—great energy, wonderful opportunities, sentimental moments, and an extraordinary volunteer and staff commitment. I am especially proud of our support of the vascular Ehlers-Danlos community over the past year and the special vEDS track at this year’s Annual Conference. Serving the related conditions community is a major priority for the Foundation and we are committed to making a life-enhancing difference for our extended family of conditions. It’s also noteworthy that The Marfan Foundation was again selected as one of the 50 “Best Nonprofits To Work For” by NonProfit Times. And, we recently received the 2019 Guidestar Platinum Seal of Transparency. We are quite proud of these designations, but even prouder of the wonderful nationwide volunteer and staff team that works tirelessly every day to support the Marfan and related conditions community. See you in Houston! Can’t wait…

CONNECTIVE ISSUES SPRING 2019 VOLUME 38 | NUMBER 2 Connective Issues is the newsletter of The Marfan Foundation. It is published three times per year. Inquiries should be addressed to: Publicity@Marfan.org or by mail to: Connective Issues

Sincerely,

Michael Weamer President & CEO

The Marfan Foundation 22 Manhasset Avenue Port Washington, NY 11050

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

ON THE COVER: Hunter Beckholt , the Youth Ambassador for the 2019 Houston Walk for Victory. He’s come a long way since we first met him at our 2010 Annual Conference (pictured right with his parents, Steve and Nora ). Cover photo courtesy of Marfan staff.

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

Photo courtesy of Tim Joyce

The Marfan and related conditions community stepped up to spread awareness during Marfan Awareness Month , 2019. February was full of your stories, photos, fundraisers, and events. Your social media posts alone reached an estimated 400,000 people . You proved that #AwarenessFeelsGood time and again, and the effects continue to ripple outward while creating a brighter future for everyone living with Marfan and the related conditions.

u Langston Galloway , of the NBA Detroit Pistons, paid tribute to his friend Owen Gray, who has Marfan, by featuring Marfan

awareness on his sneakers (LG Kicks by Q4 Sports) in a game in February. q Christi Nath and her husband, Rahil , were among thousands who spread awareness on Facebook, using the special Marfan Awareness Month profile frame.

t Skyler Glassford , 4, of Canada, who was diagnosed with Marfan two years ago, put her love of painting to work for Marfan Awareness Month. She painted rocks, birdhouses, and canvases, and held a Facebook raffle for them, raising money to help people learn about the signs of Marfan. u Penny Cooper Jones, w ho is t he Food & Beverages Manager at the Nopsi Hotel in New Orleans, and has Marfan, created a special drink for Marfan Awareness Month. A dollar from each drink ordered that month was donated to the Foundation, with a matching donation from Tito's Vodka.

All photos this page courtesy of Marfan community

Spring 2019 3

The Marfan Foundation Annual Conference is always full of stories about excitement, connections, and joy. As we embark on the 35th Annual Conference, we can look back at how far we have come—the scientific breakthroughs and medical advances, the extended life expectancy because of better diagnosis and treatment, and, more than anything, the increased sense of community among people with Marfan and related conditions. If you have never attended one of our conferences, this is the year. If you have some trepidation, you are not alone. Some of our long-time conference attendees share their experience. CONFERENCE OPTIMISM GIVES HOPE FOR THE FUTURE

u “What we have now is a real sense of optimism and community,” says Ben Weisman , pictured with his wife, Lindsey .

Finding His People Ailyn Lim, of Orlando, attended her first conference in Rochester, MN, in 2008, with her son, Joshua, who had just been diagnosed with Marfan. It was only months after Joshua's father passed away due to Marfan-related complications. “I had missed completely that he hated Marfan and the thought of going to the Conference just reminded him of it,” said Ailyn. The family had been laser-focused on the medical side of the diagnosis and getting the right treatment. They hadn’t previously met anyone else with the condition and hadn’t considered the value of this. Ailyn brought Joshua to the con- ference. By the second day, Joshua had a whole new outlook on his con- dition. “When Josh got back from a day with the teen group, he was a com- pletely different person. I thought, ‘is this the same boy?’” said Ailyn. “He looked at Marfan differently after he’d met other kids who looked and felt like him.” That weekend, Ailyn and Joshua learned about things that are not found in a textbook or on the internet. Ailyn said, “For the first time, we were seeing lots of people with Marfan. And they were having a normal life as much as possible.” Ailyn and Joshua have attended nearly every year since.

t After going to his first conference and meeting other kids with Marfan, Joshua Lim (second from right) gained a new perspective on living with his condition.

Photo courtesy of Tim Joyce

This year marks the third time that the Annual Conference will be held in Houston, Texas. We are grateful to Texas Children's Hospital for their partnership for our 2019 Annual Conference.

4 Marfan.org

Conference, while working with the teen group, he realized he could make a positive impact by being open about it. “Middle school is about ‘let’s find reasons not to like people,’” said Ben. “Now we help remove the stigma and give people the tools to be comfortable with who they are. We help them accept and face their challenges because they do not have to go through this journey alone.” The following year, Ben went to the Annual Conference in Chicago to help lead the teen program, which had 38 registrants that year (and now attracts 100 or more annually). The optimism continues to build, thanks to research, education, and medical advances. When Ben was born in 1983, the life expectancy for someone with Marfan was in the 40s. Now it’s essentially normal (with diagnosis and treatment). “There are so many young people who come to the Annual Conference and for them to see older people is a beautiful thing,” said Ben. “I see them looking at people in their 60s and 70s, and they see a future. The value of that is priceless.” With advances in many areas of treatment, people are living longer and the community has grown. Now it is the combination of both—med- ical and community—that makes the Annual Conference such a special experience. First-timers experience it right away. And that combination is what keeps people coming back every year.

Photo courtesy of Tim Joyce

A Change of Heart Ben Weisman, of New Jersey, tells a similar story dating back to his first conference in 1999, when he was 15. His first Annual Conference experi- ence in Pittsburgh was something he never intended to repeat. “On the plane ride home, I told my mom I was not going back and I didn’t want anything to do with the people we’d met,” he said. Ben made good on his promise until he was invited to speak at the Annual Conference in Los Angeles in 2002. He has attended every year since then, first with his mother and then with his wife.

What changed? “What we have now is a real sense of optimism and community,” said Ben. “When I was involved in the 90s, the research hadn’t caught up. It was depressing. I always tried to live my life with a sense of optimism and I didn’t feel the encouragement at that time.” It was a different story in 2002. At that conference, Ben met a couple of people in the same stage of life, interacted with the small teen group, and had a lightbulb moment. As a child who had been teased for the ways that Marfan made him stand out, Ben had become an expert at hiding it. But at the 2002 Annual

Learn more and register at Marfan.org/conference19 .

NEW IN 2019

Special programs and activities are planned for those affected by Loeys Dietz syndrome and vascular Ehlers-Danlos syndrome. View the Annual Conference program at Marfan.org/Conference19 for details.

Spring 2019 5

CONFERENCE SCHOLARSHIPS: MAKING THE DREAM COME TRUE

The moment the 35th Annual Conference begins in Houston will be a culmination of months of activity. And in that moment of coming together, there are celebra- tions, hugs, and greetings. There are applause and laughter and a joyful energy that fills every room. Some people are there for the first time, having never met someone with a genetic aortic condition. Others have been coming for years and have developed a pack of friends who connect and support one another year-round. Behind the scenes of every Confer- ence, there are dozens of individuals who believe so deeply in this experience that they have donated scholarships for those who could not attend with- out them. Caryn Kauffman is one of these donors. “My first conference was an unforgettable experience,” she said. “I was not involved with The Marfan Foundation growing up and, there- fore, never really knew anyone with Marfan syndrome outside of my family. It is really hard to describe how comforting it was to know everyone else in the room was going through the exact same challenges and just ‘got it.’” Caryn, her brother, and their father are all affected by Marfan. As a family, they experienced many challenges, and they handled them together. If there were to be chronic conditions in the Kauffman family, then they would do their best to meet them with optimism. This spirit drives Caryn’s continued generosity to the Marfan and related conditions community, which, in turn, pours even more inspiration into every Conference. That inspiration, for Caryn, is in “seeing children cry when Conference

Photo courtesy of Tim Joyce p Caryn Kauffman (right), with her mother, Mary Kauffman (center), and sister-in-law, Kate Kauffman, said that “there is an indescribable feeling you get when you meet others who totally understand your situation.”

“I believe everyone should have the opportunity to attend a conference.”

is over because they do not want to leave their new best friends. It’s in witnessing two teenage boys lift up their shirts to compare who has the bigger scar—a sign of pride and not shame. It is when moms get together in the evenings each night so that they can share experiences and, most importantly, laugh.” Since the Conference started in 1984, there are more ways to stay connected between conferences. Still, nothing can replace the rare opportunity to be surrounded by members of the community. This is at the heart of Caryn’s commitment. “I believe everyone should have the opportunity to attend a conference. Sure, social media enables a tremen- dous amount of information sharing, but there is an indescribable feeling you get when you meet others who totally understand your situation,” she said. “I also think having an opportunity

to speak one on one with our leading physicians is invaluable. Finally, I think it is so important for the children to meet one another and know they are not alone.” Over the years, the generosity of our community has grown and inspired the Foundation to build a scholarship program that honors the vision of donors like Caryn. In the coming weeks, and at the 2019 Annual Conference, we’ll be sharing more about our campaign to offer Annual Conference scholarships for years to come. We are excited to celebrate those who have laid the groundwork for this initiative and to share ways that everyone can be involved. If you’d like to learn more about the scholarship campaign, please contact the Foundation’s Director of National Philanthropy, Megan Martin, at mmartin@marfan.org.

6 Marfan.org

VICTORY AT CAMP

Becky Gunn and her family have attended every Camp Victory for Families since the first in 2017. Her daughter, Hadley, was nine when they first went to camp and her sister, Avery, was seven. Becky said “The great thing about family camp is that our whole family could go and have fun together.” The girls had never attended camps before, but as soon as they’d experienced Camp Victory, both were counting down the days to do it again. At their first family camp, Hadley met two other nine-year-old girls with Marfan and the three have been connected ever since. They were going through the same things and formed a friendship that grows each time the girls reconnect at camp and Annual Conference. “We knew right away that they would grow through the years together because they understand each other the way no one else can,” said Becky. Meanwhile, Becky herself fell in love with family camp. With lots of time and flexibility in the schedule, parents can participate in activities with the kids or gather together and have great conversations themselves. “You get advice, share stories, and share experiences with someone who’s been through what your family has, or is about to go through something you have,” she said. After Camp Victory for Families, Avery went to her own sleep-away camp the next year and Hadley headed to Camp Victory for Kids. This is a big step for any family but can stir even more apprehension when a child needs a little extra support. “Of course I was nervous,” said Becky. “Was she going to get her meds? Would she do something dangerous? Would she be able to get her brace on?” “Overall, I know there is a nurse at camp. Hadley was with her friends, and family camp had inspired her confidence to be independent. At some point, typical kid or not, every parent has to let go and trust. You know they will be ok. It will be fine,” she said. Prior to 2017, neither of the Gunn girls had expressed any interest in camps. Hadley especially did not want to go. Mostly, she didn’t want to go to camp and be sidelined. But when it was a Marfan camp, she was all about it. “She hates being singled out. She wants to think of herself as a typical kid at camp. She’s a typical kid at Camp Victory,” said Becky. From the personal friendships, confidence, and independence Becky has seen in her daughter, to the connections she’s made with parents like herself, “There’s nothing like seeing your child as happy as they are at camp.”

Photo courtesy of Marfan community

Becky is a huge advocate for Camp Victory. To parents who are consid- ering it, she says, “Start with family camp so you can see it all for your- self. There’s really nothing like seeing your child as happy as they are at camp.” Camp Victory is adding strength to our community, with more camp op- portunities being planned in the coming year on the west coast, in the midwest, and in the northeast. p Hadley Gunn , right, and Lilly Shaw , of Centre, AL, became friends at the first Camp Victory for Families in 2017, where they enjoyed classic summer camp traditions like swimming and s’mores. “We knew right away that they would grow through the years together because they understand each other the way no one else can,” said Hadley’s mother, Becky.

You can still register for 2019 Camp Victory for Kids, June 30-July 5, near Atlanta, GA. To register or learn more, visit Marfan.org/camps .

Spring 2019 7

GROWING STRONGER

to know more about it and meet other people who were living with it,” said Justin. What started as a way to learn more, has now blossomed into a true sense of community. Over time, as their network of Walk friends grew, learning and living with the challenges of Marfan has become easier. That very first Houston Walk was where the Efurds’ Marfan family got to know each other. Now, the family focuses on paying it forward. “We want to help other people learn and connect,” said Justin. “Living with Marfan or a related condition can be a daily struggle. You can see it on their faces. But then you also see the relief when they realize they aren’t alone and are surrounded by others who understand.”

This year marked our 4th Houston Walk for Victory and, during that time, the Walk has brought together hundreds of people from the Marfan and related conditions community in the region. As one of our largest Walks, it features teams from our community that have participated since the beginning as well as new teams each year. Annual Commitment to Give and Get Support Justin and Jamie Efurd, and their daughter, Callie, have been a big part of the Houston Walk for Victory since it began in 2015. Callie’s Marfan syndrome diagnosis came just a few months before the first Houston Walk, and Callie’s Crew has been a leading Walk team every year.

p Callie Efurd (center) clowning around with family and friends. Photo courtesy of Matthew Daniel

“We got involved with the Walk because of the unknown. If Marfan was going to be something we were going to have in our lives, we wanted

8 Marfan.org

TOGETHER IN HOUSTON

New Kids on the Block Katherine Doehring and her family joined the Walk for the first time in 2019 as a way to find mutual support with other families in the area. The family had recently lost a loved one due to Loeys Dietz-related complications and were learning to navigate their son's new diagnosis. Katherine espe- cially wanted to connect with other spouses and moms who could relate. Though they were overwhelmed with support from family and friends, the Doehrings were anxious about the emotions that could arise at the Walk. “It turned out that the day was wonderful,” said Katherine. “We met

families in our stage of life who have a lot in common with us, which is especially important when you have really intense things in your life.” The Walk for Victory has always been about awareness, supporting individ- uals and families who are affected by Marfan and related conditions, and building community. This Walk met all those goals for Katherine and her Walk team, the Doehring Dreamers. “We thought we’d take a stab at fundraising and set a $5,000 goal. People really rallied around us and we were astonished that our little team raised $10,000,” she said. “While we wanted to be connected with others, we also wanted to support the Foun- dation, including its research program. It’s the only way we’ll be able to in- crease the quality of life for people

affected by Marfan, Loeys Dietz, and related conditions, help reduce the number of surgeries needed, and improve the safety of surgeries.” For both the Efurd family and the Doehring family, the day was a wonderful success. The Walk helped them connect with others, create awareness, and raise funds for some- thing that is very meaningful to them. “It was everything I’d hoped for,” said Katherine Doehring. And that’s what Walk for Victory is all about.

In 2019-2020, the Foundation will hold Walks in 24 cities across the country. Look for a Walk near you on our website at Marfan.org/Walk .

q The Doehring Dreamers raised $10,000 to support the Foundation’s programs and services.

Photo courtesy of Anahi Gonzalez

Spring 2019 9

VIRTUAL MEDICAL SYMPOSIUM FEATURES VASCULAR EHLERS- DANLOS SYNDROME

As advances in genetic science provide a better understanding of the underlying causes of connective tissue conditions, what was previously one syndrome (traditional Marfan), we now understand to be a family of related conditions like vascular Ehlers-Danlos syndrome and Loeys Dietz syndrome. Our focus is on the people affected by these conditions and we want to continue to serve this community through support, research, and awareness. – Cory A. Eaves, Chair of the Foundation’s Board of Directors

Our commitment to the family of related conditions continued this Spring with a focus on vascular Ehlers-Danlos syndrome (vEDS) in our Prepare for Victory: Virtual Medical Symposium webinar series. The presentation was given by Dr. Shaine Morris, Texas Children’s Hospital, and Dr. Sherene Shalhub, University of Washington. They provided an overview of the condi- tion. Here are some of the basic facts.

• Vascular Ehlers-Danlos syndrome (vEDS) is a condition that has a wide range of features that range from spontaneous and easy bruising to bowel and/or arterial ruptures. Women with vEDS have the potential of a rupture of the uterus during pregnancy that may substantially shorten lifespan. Some people with vEDS have a characteristic facial appearance, thin skin, and tissue fragility that could indicate the condition is present before there is a major complication. • Vascular Ehlers-Danlos syndrome is caused by a mutation in the COL3A1 gene, which encodes part of type III collagen and rarely on COL1A1. The best estimates, which combine counts of people who have been identified by genetic testing with calculations of how well that number represents all people, suggest that there are probably between 6,000 and 8,000 affected people in the U.S., or about 1/40—50,000 people. For comparison, this is about a quarter of the number who have Marfan syndrome. • The condition is diagnosed using five major criteria and several minor criteria. The major diagnostic criteria include a family history of vEDS, an arterial rupture at a young age, spontaneous colon perforation, uterine rupture during third trimester of pregnancy, and carotid-cavernous sinus fistula (an abnormal connection between an artery in your neck and the network of veins at the back of your eye). The diagnosis is then confirmed with genetic testing. • vEDS can look similar to other syndromes, which makes an accurate diagnosis difficult. However, getting the diagnosis is critical because those affected need to be aware of the potentially dangerous medical complications. • Research is currently focused on acquiring accurate and detailed phenotype descriptions (explanation of the characteristics) and knowledge of the individual’s genotype. For more information, please check out the recording of the vEDS webinar and our new fact sheet on the condition. Both are accessible at Marfan.org. In addition, the Foundation is offering a complete workshop track on vEDS at its upcoming annual conference, July 11-14, 2019. Register today!

I really appreciated this webinar. I knew a lot of the information that was presented from research I had done after my husband’s diagnosis, but to hear real, live people speaking about it was a relief! Our local doctors (who have all been wonderful) just don't have enough expertise to discuss the specifics of vEDS with us. This made me feel less alone. Please keep the webinars coming! – Monica Kile, St. Petersburg, FL

Check out the recording of the vEDS webinar and our new fact sheet on vEDS at Marfan.org .

10 Marfan.org

QUALITY OF LIFE: DISCLOSING YOUR DIAGNOSIS

good intentions, can be difficult to hear. In those moments, you want to be aware of your emotional status. “Everyone is entitled to emotional moments,” Katie said. “It’s important to recognize them and understand that a really down moment is probably not a good time to go into too much detail. At the same time, it is equally important to be honest with your feelings, and help others understand how their responses and questions may be affecting you.” The Marfan Foundation addresses quality of life topics, like this, that affect people with Marfan, Loeys Dietz, vEDS, and other genetic conditions throughout the year, in our blog and webinar series. This year's Annual Conference will also offer a full com- plement of quality of life workshops. Katie will be leading a session on disclosing your diagnosis to others, while other topics this year will include loss and anger, living with depression and anxiety, and various coping techniques, such as journaling. There will also be support groups for spouses, unaffected siblings, and other segments of our community, and a wide range of medical work- shops.

In the past 35 years, medical advances and scientific breakthroughs have changed the outlook for people with Marfan and related conditions. People can now juggle their medical care with their regular (though sometimes modified) everyday life. Those around them might not even know they are dealing with a complex life-long medical condition. We hear this question frequently: When and how should I disclose my diagnosis? Katie Wright, of Florida, who was diagnosed with vascular Ehlers-Danlos syndrome in 2017, said that, in many instances, it is important to disclose the diagnosis. However, the flavor of the discussion may be different for

friends, family, potential romantic partners, and employers. Regardless of the type of relation- ship, Katie recommends a factual approach when first opening up about a diagnosis. “You have to know how to talk about it in a straightforward way that makes it easy to understand. At the same time, you have to be ready for a range of responses,” she said. Some responses, even those with

u Katie Wright will lead a workshop on disclosing your diagnosis at the Annual Conference. @TranslucentOne translucentone.blog

You can view the full Annual Conference program and register on our website at Marfan.org/conference19 .

Photo courtesy of Katie Wright

Recordings from our Marfan and Related Conditions Empowerment Series, featuring webinars on quality of life topics, and Virtual Medical Symposium Series, featuring medical topics presented by members of our Professional Advisory Board and other experts, are available anytime online. Access webinars like Social Security Disability, How to Talk with Your School Nurse, Managing Pain, and other quality of life questions at bit.ly/MarfanEmpowerment . Medical webinars on topics such as Taking Care of Your Aorta and Keeping Your Spine, Limbs, and Feet Healthy in Marfan Syndrome and Related Conditions, can also be accessed through our website at bit.ly/MarfanVirtualSymposium . Watch for a new line-up of webinar topics beginning in the Fall of 2019. Have a topic you’d like to see covered? Please send an email to publicity@marfan.org.

In Case You Missed It...

Spring 2019 11

MEDICAL Q&A You Asked, Our Help & Resource Center Answered

The Marfan Foundation’s Help & Resource Center, staffed by Jan Lynch, MSN, RN, answers more than 100 inquiries from our community every week. Jan works closely with Josephine Grima, PhD, our chief science officer, and the Professional Advisory Board to provide our com- munity with the answers they need to help them on their journey with Marfan, Loeys Dietz, vascular Ehlers- Danlos, and other connective tissue conditions. Here are some of the commonly aksed questions (and their answers). It is a common misconception that individuals have to be tall to be diag- nosed with Marfan syndrome. Being tall—or being tall for your family—is one of the more common character- istics, but it is not required. There are a number of outward signs that can be easily seen and some features that require special tests to deter- mine the diagnosis. Each person is unique in their Marfan features, even when there is more than one person in a family affected. This is why it is sometimes difficult for doctors who are not experienced with Marfan to make the diagnosis. I have Marfan syndrome and want to exercise. What exercise would you recommend? The Marfan Foundation’s Professional Advisory Board has established phys- ical activity guidelines for people with Marfan and related conditions. Exercise and physical activity are encouraged, but in a limited way to prevent damage to the bones and joints, eyes, and heart and blood Does a person with Marfan syndrome have to be tall?

t Jan Lynch , MSN, RN, director of our Help & Resource Center, answers more than 100 inquiries a week.

Levaquin, and Ofloxacin, should not be used in people with certain genetic conditions that are associated with aortic aneurysms and dissections such as Marfan, vascular Ehlers-Danlos, and Loeys Dietz syndromes. A review of several recent studies shows that people who have taken a fluoroquinolone are twice as likely to experience an aortic aneurysm or dissection than those who have not taken one of these drugs. The FDA has required a new warning about this risk to be added to the labeling of these medications. Before starting an antibiotic pre- scription, people should inform their healthcare professional about their history of aneurysms or genetic conditions, such as Marfan, vascular Ehlers-Danlos, and Loeys Dietz syn- dromes. If you have been prescribed a fluoroquinolone to treat an infection, do not stop the antibiotic without first talking to your healthcare profes- sional. As always, if you experience sudden, severe pain in the chest, back, or abdomen, it is critical to go to an emergency room immediately. Physicians should not prescribe fluoroquinolones to people with these genetic conditions unless no other treatment options are available. A statement from our Professional Advisory Board is on our website.

Photo courtesy of Marfan staff

vessels. In general, most people living with Marfan syndrome should exer- cise regularly through low-intensity (aerobic), low-impact activities adapted to meet their specific needs. Competitive and contact sports should be avoided. Each person should discuss what is safe for them with their personal physician. I have Marfan syndrome and want to inform my doctors about the recent warning about Cipro. Can you please give me the information I should share with them? On December 20, 2018, the US Food and Drug Administration (FDA) posted a new warning against the use of fluoroquinolones in people with Marfan syndrome and other related genetic aortic conditions. The FDA warning indicates that fluoroquinolones, a commonly prescribed class of antibiotics that includes Avelox, Cipro, Factive,

Do you have a question for Jan? Call 800-8-MARFAN x 126 or use the form on our website any time at Marfan.org/ask .

12 Marfan.org

Heartworks St. Louis Honorees Improve Quality of Life

The 11th Annual Heartworks St. Louis was an extraordinary affair—a fun evening and a successful fundraiser hosted by Dr. Alan Braverman and his wife, Rebecca. Each year, the event honors outstanding physicians and scientists and this year was no excep- tion. What was most notable was that the 2019 honorees have made significant contributions in areas that improve the quality of life of patients: ophthalmology and orthopedics. Dr. Steven Bassnett, Professor of Ophthalmology and Visual Sciences at Washington University School of Medicine, received the 2019 Distin- guished Research Award for his work in the understanding of the ocular is- sues that affect people with Marfan syndrome and several of the related conditions. His contributions to the field of ocular research could lead to a decrease in the risk of retinal tears and detachments, which would mean the opportunity for improved vision for people in our community. “People in the Marfan and related conditions community face many eye issues. Dr. Bassnett’s laboratory find- ings are critical to the understanding of early nearsightedness, dislocated lenses, and retinal detachment, and how to treat them,” said Dr. Braverman. “Maximizing vision from an early age is critical as it affects learning, social- ization, and the ability of someone to reach their potential.” The Foundation also honored Dr. Scott Luhmann, Professor of Orthopaedic Surgery, Washington University School of Medicine, and Chief of Staff, Shriners Hospital for Children, St. Louis, with the 2019 Hero with a Heart Award for his out- standing clinical care of people with

Marfan syndrome and related condi- tions. Dr. Luhmann, who specializes in pediatric and adolescent orthope- dic surgery, has expertise in repairing pediatric spine issues and spinal re- constructive surgery. Beth Marks, of Cobden, IL, mom of Kennedie, now 15, who has Marfan, sang the praises of Dr. Luhmann, who operated twice on Kennedie. She said, “Dr. Luhmann is not just a great sur- geon, he’s also a great person who has always treated Kennedie as more than just a patient. He answered her questions directly, whether she p Dr. Steven Bassnett (above) was honored for his contributions to the field of ocular research could lead to a decrease in the risk of retinal tears and detachments. Dr. Scott Luhmann (above right), with his wife, Jan, specializes in pediatric and adolescent orthopedic surgery and was honored for his outstanding clinical care. u Beth Marks , with her daughter, Kennedie, sang Dr. Luhmann’s praises, calling him “not just a great surgeon, he’s also a great person.”

Photos courtesy of Tim Joyce

was five or eleven, and always allevi- ated her fears.” The Marfan Foundation is proud to honor these two individuals for their medical achievements. Their passion and dedication to our community enables people with Marfan and related conditions to have a better quality of life every day.

Spring 2019 13

PAB and SAB News The Marfan Foundation is privileged to have an esteemed Professional Advisory Board, which provides medical over- sight, and Scientific Advisory Board,

FOUNDATION ACCOLADES The Marfan Foundation was honored with two prestigious awards in the first quarter of 2019. In February, we received, for the first time, the 2019 Platinum Seal of Transparency from GuideStar, the largest source in the world for data on nonprofit organizations. Platinum is the highest seal that Guidestar offers. This level demon- strates that we are an organization focused on measuring our progress, evaluating and sharing our results, and giving donors and funders an added level of information about the impact of their contributions. The Marfan Foundation’s profile can be viewed on the Guidestar website. In April, the Foundation was again named to the Best Nonprofits To Work For list, this year climbing to the rank of 34. The Foundation’s standing jumped by 14 spots since it first appeared in the rankings at #48 last year. “We are quite proud of this desig- nation, but even prouder of the wonderful volunteer and staff team that works tirelessly every day to support the Marfan and related con- ditions community,” said Michael Weamer, the Foundation’s President and CEO. Many thanks to the guidance, support, and vision of our many volunteers, Professional Advisory Board, and Board of Directors which have led to these notable designations.

which plays a critical role in our research grant program. Here are some of their recent accomplishments. Professional Advisory Board Dr. Dianna Milewicz , University of Texas Health Science Center at Houston, received the American Heart Association’s $1 million Merit Award to investigate the genetics related to life-threatening strokes among children. She is also a recipient of the Rice University Distinguished Alumni Award. Dr. Heidi Connolly , Mayo Clinic, received the Teacher of the Year award from the Department of Cardiovascular Medicine, as voted on by the cardiovascular fellows.

Photo courtesy of Tim Joyce

p Dr. Dianna Milewicz received the AHA Merit Award, which provides $1 million over five years for innovative research.

Dr. Reed Pyeritz , University of Penn- sylvania School of Medicine, is serving as the Principal Investigator, University of Pennsylvania Undiagnosed Disease Network of the NIH. Dr. Joseph Coselli , Baylor St. Luke’s, received the Distinguished Service Award from the Baylor College of Medicine Alumni Association and the DeBakey Surgical Award, awarded at the 22nd Congress of the Michael E. DeBakey International Surgical Society. Scientific Advisory Board Dr. Scott A. LeMaire , Baylor College of Medicine, was appointed to the Board of Directors of the Thoracic Surgery Foundation. The Thoracic Surgery Foun- dation supports research and education initiatives to expand knowledge about cardiothoracic surgical treatment options, enhance the care of patients with cardiothoracic diseases, and develop the skills of cardiothoracic surgeons. Dr. John A. Elefteriades , Yale School of Medicine, was awarded an honorary PhD by the University of Liege in Belgium for contributions to the understanding and treatment of aortic diseases. Dr. Elefteriades was also granted membership in the Academy of Athens, the highest academic honor bestowed by Greece. The Academy was established in 1926 and traces its conceptual roots to Plato's Academy.

You can meet many members of our Professional Advisory Board and Board of Directors at the Annual Conference this summer.

14 Marfan.org

Paula Leroy Susan Leshen We are grateful to our members and friends who have made contributions in memory of, or in honor of, the following individuals between December 4, 2018, and April 5, 2019. 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. Donations to Walk for Victory are not included. WE REMEMBER AND HONOR Ian Lesko Sinclair Li

Suzanne Bowman Alan Braverman Rebecca Braverman Josie Brundage Bryan Butvick Austin Carlile Kerry Cogen Leo Cole Imogene Combs Penny Cooper-jones Michele Cripps Dusti Decker James Dickey Hal Dietz Brie Edwards Andy James Elam Beverly Feinstein Jennifer Fiedler Michael Fischbein William Floyd Noelle Flynn Daniel Friedrichs Judy Gibaldi Skyler Glassford Robert Golden Heather Gooch Anna Gould Brad Greene Marybeth Greene Marla Greves Scott Griebel Creasie Hairston Connor Hajj Evan Haley Sherry Heldt Forrest Hendricks Rocco Hermogenes Jon-Aaron House Thomas Howard Billy Essers Mary Essers Patricia Estrada Randy Falco Nina Fanara

Gary Lloyd Larry Lonas Janice Lynch Kathy Magee Lulu Maher Sara Maher

Donations In Memory Of Carol, Adrian, and Elias Adame Kaitlyn Anthony

Christina Hasel Jesse Heck Richard Heim Robbie Holland David Hufnagle Dwight Hurst Eileen Ilberman Jeff Izzo Ann Jarosz Kai Johnson L. Gail Johnson William Joynt Kenneth Kelly Teresa Kerr Marc Knell Paul Koester Carmela Kolman Julie Kurnitz William Kutz James Ludwig

David Pfirrman Eldridge Phillips Lisa Pikul Frank Pomoa Ginger Preiss Briley Reiland Thomas Reis Andrew Rigney Janet Rigney Brock Robertson Gabrielle Ruelos Allan Ruth Carol Ruth David Ruth Marilyn Ruth Judith Sessler George Sheehan Mark Silver

Barbara Makanoff Harold Makanoff Judy Martin Morgan Masterman Peri Masterman-Graybill Scout Mccauley Chase McKey Bert Medina Kenneth Meidl Ellen Meiner

Pauline Baker Barbara Bales Kai Belcher Larry Blansett

Madison Boudreaux George Bourgeois

Marissa Broady Jennifer Buffone Jerry and George Butler Gabrielle Cannistraci Charles Carter Joseph Casarole Sarah Cayo Jack Chevallier Susan Chov

Catherine Miller Madeline Moore Lucy Morehead Karen Murray Delanna Muse

Alex Novak Ellie Novak Julie Perlin Brady Relias Kade Relias

Christina Sims Barbara Smith Heather Smith Timothy James Smith Gaynor Solomon Casey Sprouse Harvey Sykes Rosalie Szarkowski Tommy Tant James Jonathan Taylor

Eileen Cieslik Callie Cornely Helen Rae Cowell Carol Crews Daniel Crowley

Alexandrea Macaluso Virginia MacEachran Nancy Maines Hathaway David Makanoff

Mary Rodriguez Elizabeth Roos

Peter Roos Pam Rubin Ron Rubin

John deBlecourt Angelina Dolge Melissa Doro Marie Dullea-Prentice Clifton Durand Mary Ann Durand Herman Dykes Irwin Feinstein Larry Feinstein Chris Fulcher Bryan Funk Joseph Gagliano, Jr. Maria Giordano Patricia Graham Stuart Graham Stephanie Green Shirley Grobousky Andrew Gross Bernadine Hagnauer Ed Haley Melissa Edwards Antonina Fanara Bill Feinstein

Richard Makanoff Albert Matsuura Gary Mayes Susan McLaughlin William Meadows Neal Middelkamp Patricia Middleton Alfred Mottram Robbie Mudroch Frank Mundt Robert Murdoch Claire Murphy Joseph Neustadt Patricia Nicolosi Cathleen Nilles Curtis Pankey Richard Patka Michele Paul Christopher Paulsen John Perna Bryan Pfirrman Reed Moberly Sandy Morris

Angie Ruddock Wade Ruddock Nate Ruttenberg Caden Schaeffer Brendan Schuetze Colette Sims Darrius Singh Avery Somers Chris Stuart Lisa Stuart Nicholas Sumberaz Daniel Sze Danyel Tacker Matthew Tacker Maggie Tucker John Tully-Gold Samuel Tynczuk Kosta Walsh Matthew Waltrip

Janice Theesfield Andrew Wagner Rosanne Wakat Michael Walter Dolores Warnke Mildred Webster Evelyn Weickum Jim Wendling David Williams Karen Woltering Jeffrey Wurst

Lee Howell Sam Howell Gail Jehan

Alexandra Jennings Cassandra Jennings Francis Kovrlija Emily Kramer

Donations In Honor Of Joanne Abrams Anthony Albano

Michael Kramer Nicole Kramer Benjamin Kuehn Sara Kyle Sydney Lerman

James Arquilla Remo Arquilla Nora Baker Mike Barnett

Denise Winter Cynthia Zarate

Spring 2019 15

Photos on back cover courtesy of Tim Joyce

NON PROFIT ORG. U.S. POSTAGE PAID RIPON, WI PERMIT NO. 100

22 MANHASSET AVENUE PORT WASHINGTON, NY 11050