Connective Issues Fall 2018

CONNECTIVE ISSUES FALL 2018

KNOW THE SIGNS. FIGHT FOR VICTORY.

IT TAKES A FAMILY “Even when it is tough, wear a smile. Smiling doesn’t always mean you are happy—sometimes it simply means you are strong! And you are….” –Anonymous

Contents QUALITY OF LIFE 4 WALK FOR VICTORY 5 ANNUAL CONFERENCE 6–9 EHLERS DANLOS SYNDROME 10 RESEARCH 11 MEDICAL INFORMATION 12–13 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 affected by Marfan syndrome and related disorders. We work tirelessly to advance research, serve as a

Dear Friends, At this year’s Annual Conference, I was struck by the strength, spirit, conviction, and commitment of the mothers of children with Marfan syndrome and related conditions. At conference gatherings, poolside, or in small groups later in the evening, moms were enjoying new and sometimes longtime friends, sharing life’s stories, and celebrating being part of the Marfan family.

Meanwhile, everyone fully realizes the responsibilities moms and dads of children with Marfan and related conditions face every day and sometimes smiles do not come easy. Yet, with extraordinary advances in research and treatment, personal relationships with members of our medical community, sharing of quality of life opportunities, and the power of a warm hug, there are ample reasons to smile and be optimistic about the journey ahead. Adults with Marfan syndrome and related conditions are also extraordinary role models for children and families, living life to its fullest and sharing stories of earlier times when there was not always as much optimism as we have today. Fully realizing the role making connections plays in everyone’s lives, we now have numerous opportunities to bring people together. Our Annual Conference, Regional Medical Symposiums, mentorship program, Walks for Victory, and camping programs are just some of the ways we bring people together to meet new friends and reconnect with old friends, learn from one another, get a respite from life’s responsibilities, and smile! I look forward to seeing you in Houston at our 2019 Annual Conference next July or somewhere along the Marfan highway during the year as we work together to create a brighter future for individuals with Marfan syndrome and related conditions. Yes, it really does take a family. And, we have one of the strongest! Something I smile about every day.

CONNECTIVE ISSUES FALL 2018 VOLUME 37 | NUMBER 3

Enjoy the Fall!

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

Michael L. Weamer President & CEO

This issue of Connective Issues is supported by an educational grant from the Chu and Chan Foundation. COVER: PAM BRYSON, OF HOUSTON, SUBSCRIBED TO BACKPACK HEALTH TO MANAGE HER HEALTHCARE RECORDS AND HELP ADVANCE RESEARCH. STORY ON PAGE 11.

MARFAN MOMS (L–R) PAULA FROM NEW ZEALAND, HEATHER FROM CHICAGO, AND ALIX AND JENNIFER, FROM NEW JERSEY, AT THE 2018 ANNUAL CONFERENCE.

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ANNUAL CONFERENCE

MEANINGFUL MOMENTS

Our 34th Annual Conference, held in association with Stanford Health Care and Kaiser Perma- nente in July, was the largest ever held on the west coast. Nearly 600 people attended, including 83 children 5-12, 70 teens, and a growing young adult group that numbered 60 this year. They joined adults of every age who came together for information, support, friendship, and fun. The large California contingent was complimented by people from all parts of the U.S. and from as far away as Turkey and New Zealand. Here are a sampling of meaningful moments from the weekend.

“ “

Conference for Milly (above left) means she is among a whole lot of kids who are affected in a similar way, but at the end of the day they are all just kids having a fantastic time, wherever the kids program takes them. It normalizes wheelchairs, splints, being tall, having long fingers . . . .” Paula Marshall, New Zealand

I love being a part of a com- munity that actually understands what it is like living daily with a chronic disease. Such a strong group of teens, young adults, parents, and even staff that all have become family. It was a blessing to spend the weekend with our community and meet new friends as well. I'm thankful to be a part of such a caring, strong, and persevering community.” Austin Carlile, Costa Rica

“

I attended the conference to meet other people who have Marfan and to learn about the advances in research so that I may be prepared for what lies ahead. I also wanted to look people in the eye without having to shrink down, lean forward, or squat down. We are each unique and, while we stand out because we are different, we all share something in common. It was truly magical to gaze across a ballroom filled with like-minded ‘family members.’"

Joyce Maddox, San Diego, (second from right) who is the Tall Club International liaison to The Marfan Foundation.

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QUALITY OF LIFE

SUPPORTING OUR KIDS IN THE HOSPITAL Sydney Lerman Pediatric Hospitality Program

“I feel so alone as no one in my circle knows what we are dealing with. I have had a few chats with Marfan moms who understand, and that really helps,” said Tammy. If your child is facing surgery, please let the Foundation know by going to the Sydney Lerman Pediatric Hospitality Program on our website and completing the questionnaire. We are happy to send a basket for you and your child to ease your hospital stay.

KELLY, WITH HER BROTHER, TRAVIS, FELT WELL-SUPPORTED AFTER HER SURGERY THANKS TO THE SYDNEY LERMAN PEDIATRIC HOSPITALITY PROGRAM.

When nine-year-old Kelly of Central Islip, NY, had scoliosis surgery this summer, she didn’t just have her family and friends for support. She also had The Marfan Foundation community cheering her on. Through the Sydney Lerman Pediatric Hospitality Program, the Foundation sent Kelly a basket of goodies that included snacks and games that not only lifted her spirits, but also let her mom, Tammy Shaffer, feel the warmth of our community. “The Marfan Foundation is amazing with all the love and support they give and all the goodies they have sent to Kelly,” said Tammy. “The Foundation has been an amazing support system for us for the past six years, since Kelly was diagnosed with Marfan syndrome.” Tammy feels a special bond with Barbara Lerman, whose daughters, Sydney, who has Marfan, and Carly, started the Sydney Lerman Pediatric Hospitality Program, which provides gift baskets to children with Marfan and related conditions who are in the hospital. The baskets also include gifts for other family members because the Lermans know from their own experiences that the hospitalization impacts the whole family.

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WALK FOR VICTORY

WALK FOR VICTORY COMING TO 18 CITIES Creating Connections, Raising Awareness, and Raising Funds

Walk for Victory, our signature program that brings families and friends together in cities nationwide to celebrate those with Marfan syndrome and related conditions is expanding. We are adding Walks in five more cities in the coming year, bringing our total to 18! This year, we’ll bring Walk for Victory for the first time to: • Indianapolis (10/14/18) • San Francisco • Birmingham, AL Kate Sprouse, who is a co-chair for the inaugural Indianapolis Walk for Victory, said, “My hope is that it is a day to gather together with family and friends to help support a cause that is so important to our family. I hope we have a day of celebration, but also a day of remembrance for those who have lost their battle. I hope it is the first step to those in the area becoming more aware of the disease and knowing the signs to help in earlier diagnoses.” The other Walk for Victory locations this year are: • St. Louis (10/7/18) • Sacramento (12/15/18) • South Florida—Hollywood (1/27/19) • Houston (3/2/19) • Atlanta • Birmingham, AL • Boston • Raleigh, NC • Milwaukee

and their loved ones,” said Christy Nath, who participated in the Portland Walk for Victory last spring. “These local walks are so important to spreading awareness and providing a sense of community for those with Marfan syndrome and other connective disorders. I can't wait to see everyone again at next year’s Walk. Mostly, I can't wait to be involved with the community and help make an impact locally.” To learn more about Walk for Victory and get involved, please visit marfan.org/walk.

• Cleveland • Milwaukee • Minnesota—St. Paul • Pasadena • Phoenix

• Portland, OR • New York City • San Francisco • Washington, DC Dates are noted where available.

Last year, more than 3,500 people participated in the Walk for Victory and more than $640,000 was raised for the Foundation’s life-saving programs and services. This year, we hope to have more than 5,000 people participate and raise more than $850,000. “It was wonderful to see so many local families come out to support people with Marfan syndrome and related conditions

TOP : NEW ENGLAND TURNED OUT IN FULL FORCE AT THE BOSTON WALK FOR VICTORY HELD IN BOSTON COMMON IN JUNE. BOTTOM : THE INAUGURAL PORTLAND (OR) WALK FOR VICTORY IN MAY WAS A HUGE SUCCESS WITH PARTICIPANTS FROM THROUGHOUT THE PACIFIC NORTHWEST.

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ANNUAL CONFERENCE

CONFERENCE HIGHLIGHTS

CONFERENCE THANKS

HOSTS

Stanford Health Care Kaiser Permanente

SPONSORS PRESENTER

Stanford Health Care

LEADER

Backpack Health Wheeler Family

CONVENER

Strick Family Kaiser Permanente

CONTRIBUTOR Invitae USC Keck School of Medicine CONFERENCE COMMITTEE Lou Arias Pam Austin Maya Brown-Zimmerman Tracey Fitzgerald David Liang, MD, PhD Alix McLean Jennings, LCSW

ON JULY 12, THE FOUNDATION HELD A SPECIAL RECEPTION FOR CRAIG MILLER, MD, STANFORD UNIVERSITY. HOSTED BY NICK AND WHITELEY WHEELER (PICTURED BELOW WITH THEIR DAUGHTER, EMILY), MORE THAN 100 PATIENTS WERE ON-HAND TO HONOR HIM. THE SPEAKERS, WHO ALL HAD THEIR AORTA REPAIRED BY DR. MILLER, INCLUDED (ABOVE, L-R, WITH DR. MILLER) AUSTIN CARLILE, KATE COLLINS, AND ANDREA WITTE.

Craig Miller, MD Stephanie Noe Mitchell Pariani, CGC Sunny Pellone Kaitlyn Smart Matt Solomon, MD

PHOTOGRAPHY Timothy D. Joyce Photography

SAVE THE DATE for our 35th Annual Conference Held in Conjunction with

THE FOUNDATION’S BOARD OF DIRECTORS HAD AN OPPORTUNITY TO GET TOGETHER DURING THE ANNUAL CONFERENCE TO DISCUSS THE VISION OF THE FOUNDATION AND STRATEGIES FOR THE FUTURE. THE BOARD ALSO ANNOUNCED ITS NEW BOARD CHAIR, CORY EAVES, PICTURED AT LEFT WITH THE EXECUTIVE COMMITTEE: KAREN MURRAY, IMMEDIATE PAST CHAIR, BERT MEDINA, SECRETARY, AND CARYN KAUFFMAN, TREASURER.

July 11–14 2019 Houston, Texas

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ANNUAL CONFERENCE

“THE BEST DECISION WE EVER MADE” Annual Conference is Life-Changing for New Zealand Family

This summer, for the third time since 2009, The Marshall family came from the other side of the world to attend The Marfan Foundation’s Annual Conference. Paula Marshall said that, although it’s financially challenging to travel to the US from their home in New Zealand, she gets tears in her eyes trying to explain how much of an impact the conference has had on her family. “Going in 2009 was the best decision we ever made. The atmosphere is so positive and the opportunity to see doctors who are experts in Marfan syndrome is definitely worth travelling across the world for.” Here’s more about why the family of five travelled to Santa Clara this summer. Why did you first attend the annual conference in 2009? Our daughter, Milly, was 16 months old and we had just received the results of her genetic testing which confirmed she had Marfan syndrome (it has been suspected since birth). I told the cardiologist about the conference and he encouraged us to go. We wanted to see doctors familiar with Marfan and find out the best treatment options. The opportunity for Milly to actually be seen by some of the world's best Marfan specialists at the free health fair was what finalized it for us. Why do you continue to attend the conference? This year was our third conference. If we could, we would go every year as the benefits are so huge. Our last two conferences were prompted by a significant medical issue or decision that we had to make. We wanted to seek infor- mation from the Marfan experts and gain support from the community as a “big” medical event got closer. Five years ago, Milly was very close to needing her first cardiac surgery so being able to talk to doctors like Dr. Hal Dietz and Dr. Duke Cameron gave us confidence in what our team in New Zealand was doing with Milly's care. This year we decided to go to conference at quite short notice due to a rapid change in Milly's vision. Again being unable to access Marfan-specific medical expertise at home was a motivating factor. What are the other benefits of attending the conference? Each time, the friendships we have formed become more and more important. Giving Milly the opportunity to meet other children with Marfan is a big motivator for us and why we are aiming to be back when she is a teen.

THE MARSHALLS WITH TIM AND PAM AUSTIN, AND THEIR DAUGHTERS. SAYS PAULA MARSHALL, “WE MET THE AUSTIN FAMILY AT OUR FIRST CONFERENCE IN 2009. THEY HAVE BECOME WONDERFUL FRIENDS AND HUGE SUPPORTERS OF OUR FAMILY.”

My husband and I also feel a lot less isolated and alone than we did 10 years ago, and the knowledge we’ve gained at the conferences has made us more confident that we are advocating for the best care for Milly. The connections we have established with doctors and friends means we have access to advice, expertise, experience, and support. We have come home from each conference with a huge level of optimism and hope, which is priceless. There is an extremely strong network of “Marf mums” who are a huge support. Sharing experiences, questions, worries, and knowledge at conference and between conferences helps me enormously. Listening to the Teen Council at conference has also allayed a lot of my worries as these brilliant young people exude confidence and knowledge. They are such strong role models for Milly. What about your other children? This year was the first conference that we have all attended and it was wonderful to go as a family. Our younger children, Daisy (8) and Archie (6), although unaffected are very much “affected” by Marfan as appointments, lifestyle changes, hospital stays, and surgeries definitely affect everyone. Attending conference and being welcomed as a family, and to have a fantastic time as a family, is really important. Daisy and Archie both learned that there are lots of other families like ours even though we might not come across them in New Zealand.

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ANNUAL CONFERENCE

2018 ANNUAL CONFERENCE AWARDS

Volunteers from coast to coast are the life-blood of The Marfan Foundation. Volunteers of all ages work hard to advance our mission on the local level while they and their family members are dealing with all that comes with Marfan syndrome and related conditions. Each year at the annual conference, the Foundation recognizes people who have made significant contri- butions in the areas of awareness, education, support, and fundraising.

Antoine Marfan Award STANFORD UNIVERSITY

In recognition of outstanding care of patients and families with Marfan syndrome and related conditions and dedication to the mission of The Marfan Foundation. Pictured above, left to right: Dr. David Liang, Char Yang-Lu, RN, Dr. Craig Miller, Sunny Pellone, Dr. John Spin, and Mitchel Pariani, MS, CGC.

Priscilla Ciccariello Award CATHIE TSUCHIYA For outstanding dedication and service to the Marfan and related conditions community on the occasion of her retirement after 24 years working with the Foundation.

Kid with a Heart BOBBY ELLIOTT For outstanding fundraising and awareness efforts at his school.

Heller Family Scientific Research Award D. CRAIG MILLER, MD

Barbara Heller, pictured above with Dr. Miller, presented the research award which, for the first time, is named for her family. She told conference attendees, “Through his research, teaching and surgical work, Dr. David Craig Miller has literally, figuratively, or by extension touched the hearts of everyone in this room and many more around the world. His contributions to The Marfan Foundation and cardiothoracic surgery cannot be adequately captured in any one award, speech, or accolade, but we hope that this award will serve as a heartfelt token of my family’s and the Foundation’s gratitude and admiration for his scientific research and selfless devotion to improving the lives of others.”

Rising Star GRACE BARNHARDT For outstanding efforts for fundrais- ing and awareness, as well as the support program she started for children with Marfan and related conditions who are hospitalized.

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ANNUAL CONFERENCE

Heart of the Matter Award

Fundraising and Awareness Recognitions

Stefani Adams, New York Jennifer Aguayo, Illinois Chapter Jennifer Alden, North Carolina Heather Bergstrom, Minnesota Linzy Brown, West Virginia Emily Chu, Indiana Teri Dean, Iowa Heather and David Earnhardt, Illi- nois Andy Erikson, California Diana Fotios-Kafantaris, Indiana Liz Funk, Florida Michelle Gaddie, Washington Cindy Gossett, Alabama Bob Graybill, Washington Jordan Hannan, North Carolina Amber Harbison, Alabama Carla Harris, Australia Ryan Infraffia, Georgia Jennings Family, New Jersey David Katzive, New York Vera Keller, Rhode Island Selma Kerzman, North Dakota Dawn Knowles, California Nicole Kramer, New York Kacey Lamphier, Canada Carly & Sydney Lerman, New York Li Li, Michigan Ailyn Lim, Florida Rebecca Lipinski, Minnesota Lonn Lorenz, California Karen Maxwell, North Carolina Barbara Miller, Florida Gary Moultrup, Michigan Christy Nath, Oregon Carole Nowak, Arizona Sheilah Papageorgiou, Texas Auburn Ponder, Arkansas Dawn Pulliam, St. Louis Jennifer Reisinger, Virginia Jon Rodis, Massachusetts Lindsey Rusche, Canada Helen Shelton, New York Ashley Siano, North Carolina Lindsey Trebesch, Minnesota Deb Trebesch, Minnesota Beth Utz, Ohio Emily Wheeler and Myles Danielson, California

SUNNY PELLONE In recognition of outstanding care of patients and families with Marfan syndrome and related conditions and dedication to the mission of The Marfan Foundation. Pictured above, left, with Austin Carlile. JIM CAVAN In recognition of commitment to finding breakthrough solutions to advance research and increase qualify of life for people with Marfan syndrome and related conditions.

AUSTIN AND FARLEY FAMILIES In recognition of dedication to the children in the Marfan syndrome and related conditions community. LOU ARIAS In recognition of the leadership provided to teens with Marfan and related condi- tions and ongoing commitment as a role model to young people in our community.

Cheryll Gasner Spirit of Service Award MAYA BROWN- ZIMMERMAN This award is presented to people who, like Cheryll Gasner, are leaders both nationally and locally, despite the med- ical problems they face due to Marfan syndrome or a related condition. Pictured above, with Steve Gassner.

Community Leadership Award BECKY GUNN In recognition of outstanding efforts to create connections for the Marfan syndrome and related conditions community. Pictured above, left, with Alix McLean Jennings.

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EHLERS DANLOS SYNDROME

AN INSIDE LOOK: FIBROMYALGIA By Bob Graybill; Reviewed by Dr. Juan Bowen, Professional Advisory Board, The Marfan Foundation

Treatment for fibromyalgia The treatments for fibromyalgia are wide ranging and should be individualized. Because fibromyalgia is a complicated dis- order with its roots in the central nervous system, relaxation techniques are very helpful. Physical activity, breathing exer- cises acupuncture, yoga, and meditation have all been found to be helpful. Achieving a healthy weight through appropriate nutrition can help keep fibromyalgia symptoms under control. Moder- ate exercise prevents deconditioning and boosts mood and energy. Sleep apnea exacerbates fibromyalgia; therefore, finding and treating sleep apnea results in improved rest and nervous system function. Is it important to avoid pitfalls in pain management. Opiate medications are often unsafe and ineffective treatment, and they can be addictive. Doctors may prescribe medications focused specifically on nerve pain. They may also prescribe SSRI medications. These drugs are also used in treating depression and anxiety, two conditions often associated with fibromyalgia. The combination of non-drug treatment and judicious use of medications is often successful. The challenge of having an invisible illness People with fibromyalgia often do not look ill so they are frequently misunderstood. Susan stated, “I would like others to know that despite being invisible, my condition is very real and so are the symptoms that come along with it. Everyone should stand up for themselves and what their body needs, even if they encounter push-back.” Ashley Sulek, of Maysville, WV, who has EDS also knows what it’s like to suffer from fibromyalgia. She wants people to know that “just because someone looks fine on the outside, doesn't mean they aren’t suffering on the inside. Chronic illness never goes away, it’s a 24/7 battle.” If you feel you may be suffering from fibromyalgia, reach out to your health care team and begin the process of getting a diagnosis and starting treatment. Bob Graybill is a naturopathic doctor practicing primary care at Vitality NW in the Portland (OR) area. He is passionate about helping individuals with Marfan syndrome and other connective tissue issues because of his experience with his daughter, wife, and extended family’s Marfan diagnoses. Bob is a member of the Foundation’s Marfan Writing Group.

Fibromyalgia affects about 10 million people in the US, according to the National Fibromyalgia Association, and it is very common in people who have Ehlers Danlos syndrome, one of the conditions related to Marfan. Though the impact on an individual can be severe, fibromyalgia is difficult to explain. Still, it’s important to understand it because, as Josephine, of Omaha, NE (who didn’t want her last name used), says, she must consider her fibromyalgia diagnosis in everything she does. What is fibromyalgia? Fibromyalgia is a chronic condition that is highlighted by the presence of widespread musculoskeletal pain. There is no obvious explanation for the pain, so affected people usually have normal findings on physical examination; x-rays and blood tests are also normal. Cognitive disturbances, mood changes, difficulty with sleep, and fatigue are often present. The onset may be after illness or surgery, but often there is no identifiable trigger. Susan Theobald, of San Rafael, CA has both EDS and fibromyalgia. She is frustrated that it took 30 years to get a diagnosis. She said, “I thought I was just sick or weak, but couldn't understand why I didn't have a fever, respiratory symptoms, or stomach issues. In desperation, I would go to my doctor in tears. Some doctors believed me and ordered lab work, all of which came back negative. Many doctors minimized my concerns and I felt that they had decided I was just a malingerer.” Symptoms can occur in several body systems. For example, patients often have gastrointestinal symptoms and postural lightheadedness. In addition, symptoms can vary in severity, intensity, and frequency, with some individuals needing to seek disability services and drastically modify their lives to function in the world. Getting a diagnosis Diagnosis is usually made based on the locations and fre- quency of pain and after other conditions that cause similar symptoms are ruled out. Currently, there is no lab test for fibromyalgia. Though doctors don’t completely understand the underlying processes behind fibromyalgia, the current understanding is that the condition is due to alterations in pain processing by the central nervous system. Similar dysregulation is often seen in EDS and Marfan syndrome. It is important to have good doctor-patient communication so that delays in diagnosis can be minimized and treatment can be started.

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RESEARCH

CHANGE THE FUTURE Participate in Research on Marfan and Related Conditions

Have you ever wondered what types of orthotics work best for Marfan feet or whether physical therapy works for Marfan back pain or which migraine medication works best? These are some of the many questions that face those with Marfan syndrome and and related conditions and those who take care of them. So how does your doctor know the answers? He/she may have read some careful randomized study, but there are only a small number of these studies and they frequently don’t address the issues that affect day-to-day quality of life. Most of what he/she knows comes from his/her experience with you, but each doctor, even Marfan specialists, see only a small number of patients. What if he/she and you could learn from not only his/her experience, but also from the experiences of many other doctors and patients. You can imagine how much better the answers would be. Backpack Health has created a tool that allows us to learn from all of our shared experiences. By gathering the health experience of many people with Marfan syndrome and related conditions, like Loeys Dietz syndrome and Ehlers-Danlos syndrome, in one place, we have the opportunity to learn much more quickly and effectively about the issues that affect daily life. By keeping your health records on the Backpack Health app, you can easily allow that information to be shared with researchers to help study Marfan syndrome and related conditions. It also allows researchers and you—through The Marfan Foundation—to quickly ask new questions without having to reenter data you previously answered. Of course privacy is an important issue with something as personal as our health records. Information in Backpack Health will only be made available for research when you TIP: YOUR MEDICAL RECORDS ARE NEVER SHARED, EVEN THOUGH YOU ARE UPLOADING OR ATTACHING THEM TO YOUR HEALTH ENTRIES. IN ORDER FOR THE DATA THAT YOU ARE AGREEING TO SHARE WITH THE REGISTRY TO BE INCLUDED IN FUTURE RESEARCH USE, IT’S IMPORTANT TO CREATE A HEALTH ENTRY NAMED APPROPRIATELY THAT INCLUDES THE KEY POINTS. FOR EXAMPLE, IF YOU HAVE AN ECHOCARDIOGRAM REPORT, YOU SHOULD NOTE THE DATE OF THE PROCEDURE ON THE “PROCEDURE” TAB. THEN, THE MEASUREMENTS FROM THE REPORT, SUCH AS HEIGHT, WEIGHT AND Z-SCORE, GO ON THE “MEASUREMENTS” TAB. DROP DOWN LISTS ARE AVAILABLE FOR COMMON PROCEDURES.

BACKPACK HEALTH IS FREE, EASY TO USE, AND SECURE. BY JOINING, YOU CAN HELP ADVANCE RESEARCH.

consent (give permission). Even then, the information included in the registry will be de-identified. This means that your name and other identifying details are removed so there is no way it can be traced back to you. Then, when approved scientists access registry data to conduct a study, they will have the benefit of including your experience in their research. “The detailed data from the app health entries and the surveys that will be conducted among participants are essential to allow scientists to compile enough data to complete studies that are sufficiently powered to show true results. Having a registry that has meaningful data will also help spark the interest of the pharmaceutical industry for drug development for these rare conditions,” said Dr. Josephine Grima, chief science officer for The Marfan Foundation. “Patient participation and willingness to take the time and effort to do this will help ensure the success of this registry.” Joining Backpack Health and participating in the registry is free. Visit our website, marfan.org, and click on the Back- pack Health icon on the top to join. If you have any questions about the registry, please contact Dr. Grima, jgrima@marfan.org.

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MEDICAL INFORMATION

MEDICATION UPDATE By Josephine Grima, PhD, Chief Science Officer, The Marfan Foundation Fluoroquinolones are a class of antibiotics that are commonly used to treat a variety of illnesses, such as respiratory and urinary tract infections. These medicines include ciprofloxacin (Cipro), gemifloxacin (Factive), levofloxacin (Levaquin), moxifloxacin (Avelox), norfloxacin (Noroxin), and ofloxacin (Floxin). There has been conflicting results as to whether this class of antibiotics can result in retinal detachment or aortic aneurysms and dissections. In May 2017, the FDA updated their information about fluoroquinolones indicating that published studies currently do not support reports that these medicines may result in New research studies recently pub- lished in JAMA Surgery have found new evidence in an aortic aneurysm and dissection mouse model that demonstrates the addition of ciprofloxacin to this vulnerable mouse model is associated with severe aortic destruction, increased incidence of aortic aneurysm, dissection and death. The results of this study are being transferred to the FDA for further consideration. Currently, there is evidence that these medicines are associated with disabling and potentially per- manent side effects of the tendons, muscles, joints, nerves, and central nervous system. At this time, the Foundation’s Professional Advisory Board suggests that the general FDA warnings be adhered to. Therefore, fluoroquinolones should be reserved for use in patients who have no other treatment options unless the benefits of the drug will outweigh the risks for serious bacterial infections. retinal detachment or aortic aneurysms and dissections.

NEONATAL MARFAN SYNDROME New Resource Available

NATHAN AND LYNETTE ELAMWITH ANDY, WHO HAS NEONATAL MARFAN, AND THEIR NEWBABY, LUKE.

condition. A prior definition that required death by 2 years of age caused a dramatic and obligate pessimistic outlook for this disorder. It is now clear that some children who would meet anyone’s definition of neonatal or infantile Marfan syndrome in infancy are surviving and thriving in later childhood and young adult life. The danger in neonatal Marfan syn- drome is severe valve dysfunction with consequent heart failure as this can lead to early death. Reports of aortic dissection in infancy or early childhood in Marfan syndrome are exceedingly rare. The outlook for children with infantile onset and rapid progression of Marfan syndrome is likely to continue to improve with further advances in the medical and surgical management of cardiovas- cular manifestations. The new fact sheet further describes neonatal Marfan syndrome. It explains: • Clinical diagnosis • Genetic testing • Treatment • Unique surgical considerations • Causes To download the new fact sheet, please visit the patient and family resource section of our website.

Now available on the Foundation’s website, marfan.org, is a new fact sheet on neonatal Marfan syndrome. This diagnosis is very different than Marfan syndrome in that it has early onset and rapidly progressive features, most seriously related to the heart, lungs, and airways. Significant heart issues are evident in early infancy, and there is rapid progression during childhood. Poor feeding and breathing issues, as well as pronounced outward features of Marfan (e.g., long arms, legs, fingers, joint laxity, and contractures), are also evident early on. “Finding out that our baby was born with neonatal Marfan syndrome was very overwhelming for our family, especially since, like many families with neonatal Marfan kids, our son was a spontaneous mutation and we had previously never heard of Marfan syndrome,” said Lynette Elam of Andover, MA. “It’s been an ongoing journey determining which specialists we need to comprise our son’s care team. The Foundation’s new fact sheet will be so helpful for families, especially those with kids recently diagnosed.” Life expectancy in neonatal Marfan syndrome depends on inconsistent and somewhat arbitrary definitions of the

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MEDICAL INFORMATION

PREPARE FOR VICTORY New Virtual Medical Symposium Series

PAB NEWS

The Marfan Foundation named Dr. Luciana Young and Dr. Melissa Russo to its Professional Advisory Board, an esteemed group comprised of the world’s leading experts on Marfan and related conditions that provides medical oversight to the Foun- dation’s programs and services. Dr. Young , a pediatric cardiolo- gist, is the director of the echocardiography lab at Seattle Children’s Hospital and professor of pediatrics at the University of Washington School of Medicine in Seattle. Prior to joining Seattle Children’s Hospital, Dr. Young was co-director of the Connec- tive Tissue Disorders Clinic and director of the echocardiography lab at Ann & Robert H. Lurie Children’s Hospital of Chicago, as well as professor of pediatrics at the Northwestern University Feinberg School of Medicine in Chicago. Dr. Russo is a maternal-fetal medicine and clinical genetics specialist in the Division of Maternal-Fetal Medicine at Women & Infants Hospital at Brown University in Rhode Island. Prior to joining Women & Infants, she was at Texas Children’s/Baylor University in Houston, TX, where she was an assistant professor of maternal- fetal medicine and human and molecular genetics. Her research interests include prenatal genetics, reproductive and pregnancy outcomes in women with connective tissue disorders such as Marfan syndrome and Loeys-Dietz syndrome.

Knowledge is power. And we want to make it as easy as possible for you to access information from our world renowned Professional Advisory Board and other leading medical experts on Marfan and related conditions. That’s why we created the Prepare for Victory: Virtual Medical Symposium Series , webinars that will arm you with the latest diagnosis and treatment information from the experts. We hope this knowl- edge will empower you to advocate for yourself or your family members with your doctors, schools, employers, and more.

The new series kicked off in September with a presentation on Marfan 101 by Dr. Luciana Young, Seattle Children’s Hospital. A recording is available on our website. The next two webinars in the series are: • Taking Care of Your Aorta Dr. Alan Braverman Barnes-Jewish Hospital Washington University School of Medicine, St. Louis Monday, October 15, 7–8 PM Eastern • Loeys Dietz Syndrome Dr. Hal Dietz

Smilow Center for Marfan Syndrome Research Johns Hopkins University School of Medicine Thursday, November 8, 6–7 PM Eastern

DR. LUCIANA YOUNG, NEWLY APPOINTED TO OUR PROFESSIONAL ADVISORY BOARD, GAVE THE FIRST PRESENTATION IN THE SERIES.

Each webinar is one hour. It features a Power- point presentation followed by ample time to

ask questions. You can access it by your desktop, laptop, smartphone, tablet, or other device so you can watch the presentation. Or, you can simply dial in by phone and listen. Once you register for each webinar, you will receive a personal link for logging on. If you are unable to listen live, all recordings will be available via the Foundation’s website. To register for these webinars, visit marfan.org, click on patients & families, and then virtual medical symposium series. SAVE THE DATE Regional Symposium on Marfan Syndrome and Related Conditions hosted by

FEBRUARY 23, 2019 | LOS ANGELES, CA

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CREATING CONNECTIONS

MAKING A MARFAN CONNECTION… AND FINDING LOVE

THREE WAYS TO CONNECT WITH COMMUNITY

Lonn Lorenz grew up in Wisconsin as the youngest of nine children, six of whom inherited Marfan syndrome from their father. Even though his father passed away during heart surgery when Lonn was 6, the family did not know about Marfan syndrome until Lonn was 14. He was, and still is, the most classi- cally affected in his family and has had the most surgeries. Despite having family support, Lonn— during his college years—wanted to find people his own age who had Marfan syndrome. As this was 1988, way before the internet, one of his sisters encour- aged him to write a “penpal letter” to The Marfan Foundation, and he did. Across the country, in Maryland, Linda was used to having penpals in other parts of the country. Diagnosed with Marfan at the age of five (she also inherited it from her dad), Linda saw Lonn’s penpal letter in Connective Is- sues . She was one of three people who wrote to him. Linda and Lonn discovered they were close in age and, through their letters, they hit it off. They didn’t meet in person until four years later when Lonn travelled to Maryland for medical care. He stayed with Linda and her parents multiple times when he visited for medical reasons. Although they were both dating other people, their friend- ship grew stronger. Everything changed in 1999. They had a “long and memorable” conversation on the phone and realized they had such a strong foundation of friendship that they should try taking the next step. After a six-month cross-country relationship, Linda moved to California where Lonn was entrenched in a job in Silicon Valley. They were married on June 21, 2001, just four days before her aortic surgery. “Even from the beginning, there was

The Marfan Foundation offers several ways for you to connect with other people who are dealing with the same medical issues you are. This is helpful whether you are newly diagnosed, facing surgery, or want to discuss challenges you or your child are facing. Connect is the Foundation’s own social media platform. You can create a profile, post photos, and participate in groups that are of interest to you, for example, based on a particular medical challenge or geographic location. Go to marfan.org and click on Connect on the bottom of the home page to get started. The Foundation’s Facebook page is another way to meet people with the same diagnosis. People in many locations in the country have also set up Facebook groups where people who are local can meet online. The Foundation also offers a mentor program which gives indi- viduals of any age an opportunity to connect with another person who has faced the same situation they have on their journey with Marfan syndrome or a related condition. It is a great opportunity for people to learn and get support from others in the community. To get a mentor or become a mentor, simply fill out the appropriate questionnaire in the Get Connected section at marfan.org. Please remember to check any medical information you read on Facebook or Connect, or hear from your mentor, with your personal medical team.

LONN AND LINDA LORENZ MET THROUGH THE PENPAL SECTION OF CONNECTIVE ISSUES IN PRE-INTERNET DAYS WHEN THEY WERE JUST LOOKING TO MEET OTHER PEOPLE WITH MARFAN. a comfort level in making a connection with someone my own age who was experiencing similar things,” said Lonn. But it’s not just about making a love connection. He recommends that par- ents encourage their kids to reach out and find other kids like them—online and through the other opportunities offered by The Marfan Foundation. Linda found great value in being open about her situation. “Meet someone who has the same diagnosis as you do,” she said. “They are going to ‘get it.’ And it’s important to know that you are not alone.” See sidebar to learn how you can make connections in the community.

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TRIBUTES

Donations In Memory of: Carol, Adrian, & Elias Adame Hamad Ahmad Stephanie Baker David Barry Allan Bredenfoerder We are grateful to everyone who has made q 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. Donations In Honor of: Marie Abbruzzese Vicky Alf Steve Anderson Elliott Babbe Nora Baker Helaine Baruch Gil Bashe Susan Leshen Preston Li Robyn Li Sinclair Li WE REMEMBER AND HONOR George Maurer Michael Mazzuca Mimi McDonald Kelly Everett Melson Mary Melson James Meyers James Michelich Benjamin Mickey Nancy Montgomery

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If you are one of the more than 2.2 billion active Facebook users in the world, you can take advantage of an easy-to-use tool that Facebook offers to create a fundraiser to support your favorite causes. The Marfan Foundation, as a recognized Facebook charity, is one of them. The most effective time to create your Facebook fundraiser is for your birthday. To create your fundraiser, simply go to your newsfeed, click on Fundraisers and follow the easy-to- use set-up instructions. Every time someone donates, thank them in the comments and tag them to bump your fundraiser to the top of your friends’ newsfeed. Also, take advantage of the box on your Face- book fundraiser page that allows you to give everyone an update. Again, this puts your fundraiser front and center. Post your fundraiser link several times leading up to your birthday to thank your supporters and let the rest of your friends know how close you are to your goal. Facebook fundraising is a win-win for everyone. It’s a meaningful way to celebrate your birthday and The Marfan Foundation benefits (Face- book doesn’t even take any fees!). Need help getting started? Please email us at publicity@marfan.org.

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Walk for Victory will be in 18 cities in the coming year! That means more places for you to get to know other people with the same diagnosis, meet local medical experts, feel the support of your community, and help raise critical funds to support programs and services for people with Marfan and related conditions. More details are on page 5.