Connective Issues Winter 2018

CONNECTIVE ISSUES WINTER 2018

KNOW THE SIGNS. FIGHT FOR VICTORY.

"Sure, I would love to cure cancer," he says, reflecting on the unusual path his career has taken. “But if I just help Montie and Blake and Steven and my other patients—the people who I care for and for whom I care—that will be enough." – Hal Dietz, MD, 2012

Contents RESEARCH 3–6 QUALITY OF LIFE 7 LOEYS DIETZ SYNDROME 8 RESOURCES 10 MEDICAL INFORMATION 12 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 affected by Marfan syndrome and related disorders. We work tirelessly to advance research, serve as a

Why is it so important to help find a cure, provide a novel treatment approach, or improve quality of life for

a rare disorder that impacts 1 in 5,000 people? It is important because the science and medical communities, which are the very lifeblood of The Marfan Foundation, have an unabashed passion for everything Marfan and related disorders, as expressed by Dr. Dietz. To say the physician/patient relationship is unique at The Marfan Foundation would be a huge understatement. In fact, it is simply amazing. And, this com- mitment extends to the family, the community, and the drive for accelerating science and treatment which today is supported by over $1.5 million in current Marfan Foundation research funding. This issue of Connective Issues highlights important research, such as a study by Dr. James Foster that looks at very rare types of Ehlers Danlos Syndrome that affects children born with fragile, easily bruised skin and weakness of tissue, leading to a number of debilitating conditions. Overall, we funded nine new research grants to scientists, ranging from seasoned investigators to young researchers like Dr. Foster, who we hope will be the great leaders of the future. Connective Issues also highlights the need for research participants for studies, such as the one by Dianna Milewicz, MD, PhD, that aims to learn more about the genes that predispose people to thoracic aortic aneurysms and acute aortic dissections. Enrolling in a study is another easy and wonderful way to support the work of The Marfan Foundation. Meanwhile, as research paves the way to the future, our Help & Resource Center, Annual Conference, Regional Symposiums, Camping Program, support groups, and ever expanding Quality of Life program provides our growing community with the resources and opportunities they need to live a long and successful life, in the arms of a truly extraordinary community. No one with Marfan syndrome or a related disorder should ever feel lonely as we have the most active, engaged, knowledgeable and supportive com- munity of any organization of our type. I truly hope your 2018 will be filled with much happiness and joy! Stay well and know we are here for you virtually every hour of every day!

CONNECTIVE ISSUES WINTER 2018 VOLUME 37 | NUMBER 1

All the best,

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

Michael L. Weamer President & cEO

ON THE COVER: JAMES FOSTER, PhD, JOHNS HOPKINS SCHOOL OF MEDICINE, 2017 VICTOR A. MCKUSICK FELLOWSHIP GRANT RECIPIENT.

This issue of Connective Issues is supported by an educational grant from the Chu and Chan Foundation.

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RESEARCH

“My son has Marfan. He faced life-saving surgery this past June. Knowing there is research being done—and support available—is helping him and his wife get through this trying time of recovery.” – SHERRY, VERMONTVILLE, MI

“As a person with Loeys Dietz syndrome, I love that The Marfan Foundation is doing critical research to make my life and the lives of others so much better. Without your strong network, I probably wouldn't have survived the descending aortic dissection I had last year.” – ALLISON (ABOVE CENTER), OAKLAND, CA

SHERRY’S SON, DJ, AND HIS WIFE KIMMY.

“People with Marfan syndrome are living healthier, longer lives because of research. My daughter lost her father when he was only 39. She is now 47 and looking forward to many more years of active living.” – DIANE, FORT LAUDERDALE, FL

The Marfan Foundation always works tirelessly to advance research that saves lives and dramatically enhances the quality of life for people living with Marfan syndrome and related disorders. The research that we’ve supported has helped reduce life-threatening problems from these conditions, identified treat- ments that have improved the quality of life, and helped people to live a long life with Marfan syndrome and related disorders. We continue to support this research because we know there are still people struggling on their medical journey and lives that need to be saved.

DIANE’S DAUGHTER, MONIQUE, AND HER HUSBAND.

Winter 2018 3

RESEARCH

2017 RESEARCH GRANTS

REGIONAL SYMPOSIUMS COMING TO NYC AND CHICAGO If you live in or near Chicago or New York City, consider attending one of the Regional Symposiums on Marfan Syndrome and Related Disorders currently scheduled:

Each year, The Marfan Foundation pursues the most innovative research and makes sure that it receives proper funding. In 2017, we received 27 proposals and awarded nine research grants to scientists, ranging from seasoned investigators to young researchers. Through our grant program and other commitments, we funded $1.5 million in research this year. As a result of our efforts, grants will help researchers: • Study eye issues in Marfan syndrome and other connective tissue disorders. • Investigate factors that might be protective against aortic dissection in Marfan syndrome. • Explore new unique therapeutic targets to combat the devastating aortic issues in Marfan syndrome. • Seek a better understanding of the bones in Marfan syndrome so that additional treatment options can potentially be identified. • Gain knowledge about how surgical grafts affect native aortic tissue. • Test the impact of losartan on blood vessel health. • Investigate potential new therapies to slow or prevent aortic enlargement in Marfan syndrome.

• Chicago

March 10, 2018

• New York City April 15, 2018

These one-day meetings feature many of the same types of programs as our annual conference—medical presentations, workshops, Creating Connections luncheon, and programs designed specifically for children and teens. The recent Regional Symposium at Cleveland Clinic was amazing. It’s not a foundation, it’s a family. – Tina Hinzey, West Virginia

“The Marfan Foundation funding is critical for this study, which will address key knowledge gaps regarding the impact of proximal grafts on the distal aorta, and elucidate whether recurrent thoracic aortic aneurysm and aortic dissection risk is primarily due to vascular phenotype, or impacted by graft approaches used in current practice.” – JONATHAN W. WEINSAFT, MD, (CENTER) ASSOCIATE PROFESSOR OF MEDICINE (CARDIOLOGY), WEILL CORNELL MEDICAL COLLEGE (NEW YORK), 2017 FACULTY GRANT RECIPIENT © Roger Tully

For more information about these and other symposiums as they are scheduled, visit Marfan.org/RegionalSymposiums

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RESEARCH

PARTICIPATE IN RESEARCH Researchers need your help to advance scientific knowledge on Marfan syndrome and related disorders that could lead to better treatments. Although your family might not benefit from the results of the study, your participation will certainly help the greater community affected with the disorder, including future generations of your family. Evaluation of an Imaging Biomarker in Children and Young Adults with Aortopathy Researchers at Texas Children’s Hospital and Baylor College of Med- icine are measuring and observing an imaging biomarker over time which may help predict risk of dilation and changes in the aorta. You must be able to visit the Texas Children’s Hospital in Houston. Thoracic Aortic Aneurysm and Dissection Study Dianna Milewicz, MD, PhD, Director of the John Ritter Research Program in Aortic and Vascular Diseases at the University of Texas Health Science Center in Houston, is working with clinicians, scientists, and genetic counselors on a number of ongoing research studies to learn more about the genes that predispose people to thoracic aortic aneurysms and acute aortic dissections. Further identifi- cation of the genes that cause people to have these conditions will increase the ability to identify who is at risk and provide information on how to better diagnose and manage aortic and vascular diseases. More study information, along with enrollment criteria, is available at Marfan.org/current-studies. Among the studies currently seeking participants are:

2017 Research Grant Recipients

Victor A. McKusick Fellowship Grant James Foster, PhD Johns Hopkins School of Medicine $100,000 2-year grant Organ Specific Expression of the Short Isoform of ADAMTS2 and Its Role in Corneal Development Early Investigator Grants Gillian McLellan, BVMS, PhD, DACVO University of Wisconsin-Madison $75,000 2-year grant Delineating Pathology of the Aqueous Humor Outflow Pathways in Animals with LTBP2 Mutation Francesca Seta, PhD Boston University School of Medicine $75,000 2-year grant Preclinical Study to Test the Efficacy of Sirtuin-1 Against the Vascular Complica- tions of Marfan’s and Related Disorders Joseph Turek, MD University of Iowa $75,000 2-year grant A TRPC4-Dependent Amplification

Cardiovascular MRI Wall Stress Charac- terization for Prediction of Adverse Aortic Remodeling Following Surgical Aneurysm Repair Pascal Bernatchez, PhD University of British Columbia $100,000 2-year grant Endothelial Function in Marfan: A Target and Clinical Marker Juan Miguel Redondo-Moya, PhD Spanish National Cardiovascular Centre $100,000 2-year grant NO Signaling and ADAMTS1 Substrates in the Pathogenesis of Marfan Syndrome

Pathway Contributes to Aortic Aneurysm Progression in Marfan Syndrome

Clinical Research Grant James Hoekel, OD Washington University $100,000 2-year grant

“The Marfan Foundation award is instrumental in establishing our research program in a timely and competitive manner and will help us to increase our competitiveness in securing other sources of funding, such as the European Research Council-Advanced Grant.” – JUAN MIGUEL REDONDO-MOYA, PhD, SPANISH NATIONAL CARDIOVASCULAR CENTRE (MADRID), 2017 FACULTY GRANT RECIPIENT

Intraocular Lens Implant and Corneal Laser Surgery in Visually Impaired Children with Marfan Syndrome Faculty Grants Bettina Willie, PhD McGill University $100,000 2-year grant Osteocyte Mechanobiology in Marfan Syndrome

Jonathan Weinsaft, MD Weill-Cornell Medical College $100,000 2-year grant

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RESEARCH

A GRANDMOTHER’S STORY Nearly 70 years after her diagnosis, research provides hope for her grandchildren

for children with low vision, both in Ithaca and in San Diego, where the family later moved. She continued to have eye prob- lems and eventually had to have one eye removed. As Barbara got older, she benefited greatly from medical advances as they happened—from imaging techniques, like CT scans, to aortic surgery, which she had in 2008. Barbara married and had a son, who inherited Marfan syndrome from her. His two children, Joshua, 16, and Helen, 10, have Marfan syndrome as well. Because the children were diagnosed early, they can take advantage of research advances from a young age. “Scientific progress can give us a chance to live a long life,” said Barbara, who is now 74 and lives in Fort Myers. FL. “Still, it is critical to be diagnosed and get appropriate medical treatment. Otherwise, you might as well be living in the 1940s.”

BARBARA MILLER (BACK ROW, 3RD FROM LEFT) WITH HER FIRST GRADE CLASS IN ITHACA, NY.

A Marfan syndrome diagnosis is often elusive, even in 2018 with improved diagnostic tools and more awareness than ever before. Consider then the fortune of Barbara Miller, who was diagnosed in 1948. Barbara was born in Alabama in 1943 and, shortly after, moved to Ithaca, NY, with her family and began her schooling there. As early as first grade, the teachers recognized that she was smart, but she wasn’t performing as expected. As one of two black children in the class, Barbara’s seat was in the back of the classroom. Her teacher realized that Barbara couldn’t see the blackboard and moved her to the front. The school also gave her mother the name of an optometrist for a vision screening. The optometrist found that she had a dislocated lens; then her family doctor determined she had arthritis, a heart murmur, and Marfan syndrome. This was before echocardiograms, before bypass surgery, before beta-blockers. Before many of the medical advances that currently help people live with Marfan syndrome. Still, Barbara thrived over the years in classes and schools

MY HOPE by Barbara Miller I hope that my grandchildren live long lives. I hope that my grandchildren thrive physically and emotionally.

I hope that my grandchildren suffer past the teasing and bullying. I hope that my grandchildren find the love of their lives. I hope that my grandchildren do not have lives of physical and mental pain. I hope that my grandchildren have support for their physical and emotional lives. I hope that my grandchildren know their faith-based support.

Your contribution to research and progress on Marfan syndrome and related disorders is appreciated. You can donate online at Marfan.org/hope.

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QUALITY OF LIFE

QUALITY OF LIFE: AGE MATTERS Obstacles Depend on Your Decade

By Todd Richards

In The Marfan Foundation’s recent survey to identify the quality of life issues in the Marfan and related disorders community, more than half of the 1,051 respondents reported that pain (56%) and physical limitations (56%) are the greatest obstacles. The other most common challenges were lack of stamina (43%), vision issues (38%), sleep (36%), feeling “down” (31%), feeling anxious or restless (31%), financial insecurity (28%), gastrointestinal issues (26%), breathing issues (23%), and being underweight (20%). To better understand these findings—and identify ways to help people in the community to overcome their quality of life challenges—it’s important to look at the responses by age. Not surprisingly, there are significant differences. Quality of life obstacles Pain and physical limitations were generally ranked either first or second in all age groups. Stamina, vision issues, and sleep were also generally top five obstacles in all age groups. While being underweight was a top five obstacle in the two youngest age groups, that changed once people hit their thirties. Among those 30-39, being underweight and being overweight received an equal number of responses. For those 40 and over, being overweight became a larger issue. Low self-esteem and poor self-image seem to become a lesser challenge as people age. Taking these two responses together, they are the number one obstacle in the 15-19 age band, third in the 20-29 age band, fourth in the 30-39 age band, and fifth in the 50-59 age band. Improving quality of life Total survey results placed listening to music first, followed by pain medications, mindfulness, physical therapy, and herbal supplements. Individual age bands generally reflected the total survey results. However, a large percentage of respon- dents cited other solutions to improving quality of life, indicating that there is more to learn and share about what the Marfan and related disorders community does to improve its quality of life. We want to know more! Survey participants overwhelmingly indicated that they would like to learn more about nutrition to gain or lose weight and medical/nonmedical solutions to treating foot problems. Nutrition was the first choice from ages 10 to 40. Foot solutions was the first choice from 40 to 70+.

SURVEY RESPONDENTS PLACED LISTENING TO MUSIC AT THE TOP OF THEIR LIST OF WAYS TO IMPROVE QUALITY OF LIFE.

Treating scoliosis was a top five response from age band 0-10 to age band 20-29 and then appeared again in the 70+ age band. Pregnancy/family planning appeared as a signifi- cant response in the 20-29 age band. Social Security Disability was a consistent response from ages 15 to age 59. Pain medications became a significant response from age 40 through age 69. Selected vision issues were top five in the 0-10 age bracket. Physical therapy first appeared in the age 10-14 age group and was a top five choice three more times up to age 69. Learning more about cannabis products was a consistent number four priority from ages 20-40. It did not appear as a significant response before age 20 nor after age 50. More questions The survey findings were very revealing when you look at the priorities of people in different age groups. As expected, it opened the door to a lot of additional questions about various topics—such as pain, weight, and self-image—that the Foundation will explore further in the future. To learn more about how the survey was conducted and read the general findings, please visit Marfan.org.

Todd Richards, of Camp Hill, PA, has Marfan syndrome and is a member of the Foundation’s Marfan Writing Group.

Winter 2018 7

LOEYS DIETZ SYNDROME

GENETIC TESTING RESULTS LEAD TO LIFE-SAVING TREATMENT

diagnosis, I also found out that I needed aortic surgery as soon as possible.” Loeys Dietz and Marfan differ in the way the blood vessels are impacted. In Marfan, the aorta, the large artery that takes blood away from the heart, is prone to enlarge and can tear. In Loeys Dietz, blood vessels throughout the body are at risk so affected people need to have more comprehensive imaging of their whole body (not just their aorta). In Marfan syndrome, the threshold for aortic surgery is when the aortic root measures 5.0 cm in diameter (unless there is a family history of dissection at a smaller size). In Loeys Dietz syndrome,

the threshold for surgery is smaller— thus necessitating earlier surgery to repair the aorta in these individuals. In addition to the aortic surgery she needed at the time of her Loeys Dietz syndrome diagnosis, Allison, now 28, has had four other surgeries. She has CT scans every three months as doctors keep an eye on her descending aorta, which is dissected. Sadly, Allison’s father never had the benefit of getting the right diagnosis. He passed away in 2006 at the age of 46 as a result of a descending aortic dissection. This was just one year after Loeys Dietz syndrome was first described by Bart Loeys, MD, and Hal Dietz, MD, at Johns Hopkins. Now she is getting the right treatment for her correct diagnosis. Without genetic testing, she realizes the situation would be very different. Allison is confident that she will make it past 46. She has been on beta-blockers since the age of 6. And now she is also getting the right treatment for her diagnosis. Without genetic testing, she realizes the situation would be very different. For more information on genetic testing, please visit the patient resources section at Marfan.org. The Marfan Blog also has updated information on genetic testing in Marfan and related disorders.

ALLISON, BACK ROW WITH HAT, AND HER FAMILY AT THE FOUNDATION’S 2016 PASADENA WALK FOR VICTORY. THEY WALKED IN MEMORY OF HER DAD, FRANK.

Marfan syndrome and the related disorders, such as Loeys Dietz and Ehlers Danlos syndromes, share many of the same features and, as a result, require some of the same treatments. However, there are important differences too, as Allison Marin, of Oakland, learned just in time to save her life. For nearly 20 years, Allison had been diagnosed with Marfan syndrome. Both she and her father were diagnosed after he had an aortic dissection. Allison was in first grade at the time and, looking back, she acknowledged that she had some of the outward features of Marfan. But, as she got older, she didn’t feel that the characteristics of Marfan described her. “Getting the correct diagnosis felt good. I felt empowered...” At the age of 24, circumstances led her to seek a new cardiologist. Her new heart doctor suggested she get genetic testing. The result: Loeys Dietz syndrome. “Getting the correct diagnosis felt good. I felt empowered and could take charge of what I actually have,” said Allison. “But, there was a lot for me to learn about Loeys Dietz syndrome and it was scary, too, because, when I got the

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CREATING CONNECTIONS

MANDY SHAW: MOTIVATED TO IMPACT CHANGE Houston Walk for Victory Co-Chair is Driven to Raise Awareness and Raise Funds

2018 WALK FOR VICTORY

SCHEDULED WALKS Hollywood, FL: January 21 Houston, TX: March 3 Atlanta, GA: March 10 Phoenix, AZ: March 11 Cleveland, OH: March 25 Washington, DC: April 14 Portland, OR: May 20

Mandy Shaw had never heard of Marfan syndrome before she met her late husband, Mike, in 2006. For the next seven years, she learned more and more as she watched all he endured. What was missing, she admitted, was support. “Sure, we have the greatest family and friends who were all there for us,” Mandy said. “But, no one understood what we were going through because they weren’t living it every day.” That changed when she went to the first Houston Walk for Victory in 2016. At that point, her son had not yet been diagnosed; she attended as a tribute to her husband. Now, in 2018, she is a co-chair of the event. “The Walk for Victory is such a fun family day and we love meeting new people and hearing their stories,” said Mandy. “The way The Marfan Founda- tion is connecting people and working to educate and advocate is incredible to me. I’m happy to have even a small part of involvement with that.” What I found in the first Houston Walk for Victory was an incredible community of people who understood what life with Marfan syndrome was like. Then, in June 2016, when my now four-year-old son, Michael, was diagnosed with Marfan, I didn’t feel as isolated as I did when my husband was alive. I knew there was support out there and this wasn’t a battle we had to fight alone. Since then, I have met some incredible families, all facing the same battles we are. It is so refreshing to be able to talk about what our family members are going through and know that we all get it. The Walk Why is the Walk for Victory so important to you and your family?

DATES PENDING Boston, MA New York City

Want to be a successful fundraiser? Mandy Shaw advises: Share your story and be person- able. People want to know why you’re passionate about the Walk for Victory. Share facts. It’s important to educate others and who better to educate than someone who is directly impacted by Marfan syndrome? She says, “My family and friends appreciate it when I share infor- mation and relate it to how it directly impacted us” For more information on Walk for Victory, please visit Marfan.org or contact Kim Huddleston, national walk manager, at khuddleston@marfan.org.

MANDY SHAW WITH HER CHILDREN, MICHAEL AND MADISON

for Victory connected me with the Foundation and a large support network.

How does your son Michael feel about the Walk for Victory? He loves the walk and had so much fun last year! He still talks about the park, face painting, and seeing Anna from Frozen! He doesn’t fully grasp the concept of what we are walking for, at four years old, but he has no problem being the center of attention. I am driven to be a top fundraiser because of my late husband and my son. Mike would have loved the Walk for Victory and I wish so much that he was here to be able to experience the support we have found. It is also so important to me to help increase aware- ness—so that people know about Marfan syndrome and so that those who are diagnosed know that they are not alone. What motivated you to become a top fundraiser last year?

Winter 2018 9

RESOURCES

NEW PHYSICAL ACTIVITIES RESOURCE NOW AVAILABLE

MARFAN AND RELATED DISORDERS FAMILY CAMP Last year, 25 children and their families attended our first Marfan and related disorders family camp and gave it rave reviews. Now, family camp is here again! Registration is now open at Marfan.org/FamilyCamp2018. FRIDAY, APRIL 20 – SUNDAY, APRIL 22, 2018 TWIN LAKES CAMP WINDER, GA Camp features fun activities for all ages: • Arts & Crafts • Camp Fires

The Marfan Foundation is now offering a new resource featuring physical activity guidelines for people who have Marfan syndrome and related disorders. The new fact sheet addresses what kinds of activities are generally low risk, which activities require some modera- tion, and what kind of exercise should be avoided. It also provides insights into what doctors worry about when people with Marfan syndrome participate in exercise and sports and explains the rationale for the limitations. The Foundation’s Professional Advi- sory Board, which consists of the leading doctors on Marfan syndrome and related disorders from throughout the U.S., provided input and oversight to the new fact sheet. “Exercise is important for everyone, but there are limitations for people with connective tissue disorders, such as Marfan syndrome,” said Alan C. Braverman, MD, Director of the Marfan Syndrome and Related Disorders Clinic at Wash- ington University in St. Louis School of Medicine/Barnes-Jewish Hospital and a member of the Foundation’s Professional Advisory Board and Board of Directors. “While the recommendations have not changed, the new resource helps people better understand the various types of exercise and clarifies what the potential dangers are with, for example, competi- tive and contact sports, so that people have the information they need to make decisions that are safe.” Regular exercise improves both physical and emotional well-being and can be incorporated safely into the routine of people with Marfan syndrome. Therefore, they are encouraged to adapt health measures that protect them from Marfan features that can worsen and from medical conditions that are simply part of the aging process. With an early diagnosis, treatment, and lifestyle adap-

• Music & Sing-a-longs • Outdoor Adventures

• Fishing • Boating • Carnival • Archery • And More!

CARSON FLANAGAN, OF SOUTH CAROLINA, ENJOYS A GAME OF GOLF.

Professionally-led discussions will be held for parents. And, a Marfan- knowledgeable nurse will be on-hand. “Of course one can make friends at any sort of camp. But, to make a friend who understands Marfan is something Bobby wouldn’t get any- where else, except perhaps at [the Foundation’s] conference.” – Jay Elliott, of St. Louis The cost to attend is $125 per adult and $95 per child. This includes accommodations, meals, and all activities. For more information, please contact Susan Leshen,

tations, many people with Marfan syn- drome can now expect to live a normal life span. The guidelines are intended for those with Marfan syndrome and related disorders; however, individuals may have unique disease-specific manifestations that require additional consideration and restrictions. For example, those with Loeys Dietz syndrome may have cervical instability, which impacts guidelines on certain exercise and physical activity. Please consult with your physician about your individual case. To download the new physical activities guidelines, visit info.marfan.org/ physical-activities-guidelines.

sleshen@marfan.org or 800-8-MARFAN, ext. 122.

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PATIENT CARE

TIPS TO HELP YOU MAKE THE MOST OUT OF YOUR DOCTOR VISITS

By Janice Petrella Lynch, MSN, RN

• If you are in need of specialist recommendations (for example, an orthopedic physician, physiatrist, or ophthal- mologist) ask the doctor and nurse in the office who they recommend. When it comes to getting specialist recom- mendations, it is best to network with a number of reliable sources, including The Marfan Foundation, prior to choosing the one for you. • Check your prescription medications prior to the appoint- ment. Bring a list of those that need to be refilled in the near future. It saves time and a possible delay in getting the prescription from the pharmacy. • Make sure your doctor’s office knows how you want to be notified of test results. Be sure to clarify it with the physician or nurse prior to leaving the office. Many people prefer to hear directly from the doctor so they can discuss the test results with them. For more information, recommendations and/or support, please contact me at jlynch@marfan.org or 516.883.8712, ext. 126.

Spending some time in preparation for a doctor visit will help you get the most out of it and even save you time in the long run. “After taking the time and effort to make an appointment, confirm the appointment, arrange a ride, get ready, travel, park, and wait to see the provider, you have a significant investment in the appointment before it even begins,” said Ellen, from Florida, who has Marfan syndrome. “Make sure you are prepared by having a clear agenda and knowing what you want to get out of the doctor visit. Remember, you are the customer and the decision-maker in your care.” Here are some tips to help you get the most out of your doctor appointments. • Bring paper and pencil to take notes, and don’t be afraid to clarify with your doctor what you think was said. • Try to bring along a capable family member or a friend who can serve as a “second set of ears” and may even be a good note taker for you. • Bring any recent blood work, testing, and a list of your current medications to keep the doctor up-to-date. Make sure you include the medication doses and how often you take the medications in a 24-hour time period. • If the doctor wants you to have bloodwork done prior to the appointment, make sure that either you or the doctor have the results. • Use the patient portal available through the doctor’s office. There you can find all test results, appointment times, and needed follow-up. You can also contact your doctor or provider through the office’s patient portal. • Write down every question that pops in your head prior to the appointment. Don’t depend on your memory. Some may be answered during the visit, and some may not. Have your list of questions ready to go, and don’t let the doctor rush you through them. • For a first-time visit, be sure to bring a list of all your doctors and therapists and their contact information, your insurance, and photo identification. • For repeat visits, let the office know if your insurance has changed since your last visit. If your policy requires referrals, be sure to have them. Doing all of this will help prevent problems with billing and paying unnecessary copays.

Janice Petrella Lynch, MSN, RN, is director of the Help & Resource Center at The Marfan Foundation.

DR. LUCIANA YOUNG, SEATTLE CHILDREN’S HOSPITAL, MEETS WITH A FAMILY AT AN APPOINTMENT DURING OUR ANNUAL CONFERENCE HEALTH EVALUATIONS.

Winter 2018 11

MEDICAL INFORMATION

TARLOV CYSTS AND MARFAN SYNDROME Tarlov cysts may be a cause of pain in people with Marfan syndrome.

relief. Narcotic pain relievers do not help and an individual may build up a dependency that actually makes the pain seem worse. TENS, transcutaneous electrical nerve stimulation, seems to be an effective way to work with Tarlov cysts. A permanently implanted system actually delivers elec- trical stimulation to the nerves for pain control. The electrodes are surgically implanted in the lower back and con- trolled by an electronic device. The device has various settings to control pulsations that work with differ- ent pain levels. Patients can participate in normal activities including swimming, walking and other exercises. Other treatments include injecting the cyst with fibrin glue or even removal of the cyst.

LORRAINE ATKINS AND HER DAUGHTER, ALICIA ATKINS LAZENBY

By Lorraine Atkins

Surgery Surgery involving Tarlov cysts removal is very delicate and very few neurosurgeons have experience with it. The risk of complications is great. More research is underway. Case study My daughter, Alicia Atkins Lazenby, has experienced Tarlov cysts in connection with Marfan syndrome. Alicia was diag- nosed with Marfan in 1984 at the age of four at Children’s Orthopedic Hospital in Seattle. She has had two heart surgeries and several other surgeries. The permanent TENS implant has helped her work with the Tarlov cysts. She participates in water aerobics and other exercises programs. Finding the right neurologist in the Seattle area required research. She tried physical therapy, corticosteroid treatment, and pain management therapy prior to the implant. As recently as 2016, Alicia consulted with a neurosurgeon who said that neurosurgery was not an option at the time. People with Marfan syndrome who experience pain associ- ated with the Tarlov cyst condition are encouraged to find neurologists who are familiar with the TENS implant. This article was written and researched by Lorraine Atkins, of Seattle, who is a member of the Marfan Writing Group, with assistance from her daughter, Alicia Helene Atkins Lazenby. It was reviewed by Dr. Paul Sponseller, director of pediatric orthopedics at Johns Hopkins Hospital and a member of the Foundation’s Professional Advisory Board.

Tarlov cysts are fluid-filled sacs in the lower lumbar region at the base of the spine. Pain may be caused by lumbar sacral nerve compression. The perineural cyst comes into contact with the nerves in this region. The contact can cause severe pain in the lower back, buttocks and legs. Tarlov cysts, also referred to as sacral menigeal cysts, are expansions of the dural lining of the spine. They are variations of dural ectasia which is a weakening of the dural connective tissue. Tarlov symptoms may include:

• Sciatica-like nerve pain • Urinary tract problems • Headaches • Loss of muscle control

However, it is important to know that the cysts may cause no problems, and the symptoms above may have many other causes. Finally, the pressure of the nerves in the lower back can also cause bone deterioration. Treatment Treating this condition involves physical therapy and pain management. It will always be difficult to manage a sudden searing pain along the back and legs when a person is sitting or standing. It wears people down emotionally. Medications used include the non-steroid anti-inflammatory drugs (NSAID), such as ibuprofen. These provide temporary

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CREATING CONNECTIONS

MENTOR PROGRAM CREATES STRONG CONNECTIONS By David Fournier The Marfan Foundation’s mentor program, launched earlier this year, is having an impact on both the mentors and their mentees, with more than 50 connections already made. The mentor program ensures that anyone who wants to connect with someone and ask questions has a way to do this, regardless of their location. It is a great opportunity for people to learn and get support from others in the community. “It is comforting to know that there are others who have gone through experiences

SAVE THE DATES

EVENING WITH HEART SAN FRANCISCO

February 1, 2018 The Commissary

HEARTWORKS ST. LOUIS GALA: CELEBRATING A DECADE OF PROGRESS March 17, 2018 Four Seasons Hotel St. Louis Honoring: Marcia C. Willing, MD, PhD, Director, Connective Tissue Disorders Clinic, St. Louis Children’s Hospital

that are unique to Marfan,” said one mentee. “Dealing with situations like teasing, surgical procedures, keeping current with research, medications, avoiding contact sports, and talking to doctors is much easier when you interact with others who have been there.” As a mentee it is important to have someone to whom you can ask questions. One mentee explained that he asked his mentor questions, such as “how do I better communicate with my doctor, stand up for myself when my friends want to play football and I know I should not, educate myself about my condition, deal with teasing from my classmates, or explain my condition to others.” Finding answers to these difficult questions is now made much easier through The Marfan Foundation’s mentorship program. One mentor remembers how it was for him growing up and is happy to serve as a mentor to others. “Even with my siblings to turn to, there were many things I

“I am so appreciative of this program. Sam is a typical teen and doesn’t express himself too much to his parents, but he does enjoy speaking (well, texting) with his mentor. Hopefully, we can connect in person or Face- time some time in the future.” – TERA WOODHOUSE, PICTURED ABOVE WITH SON SAM

HeartWorks Gala May 22, 2018 Ziegfeld Ballroom New York City

would've liked to have talked over with someone who had already experienced them. Someone who could look back and give me the advice that only hindsight can offer,” he said. It is no doubt a daunting experience to learn that you or someone close to you has a potentially life-threatening disorder. Connecting with someone who has overcome the many challenges you are facing is comforting. If you would like a mentor, or you would like to become a mentor, please contact Susan Leshen, senior director of patient & program services and volunteer leadership, sleshen@marfan.org,

EVENING WITH HEART CHICAGO April 24, 2018 1st Ward Room at the Chop Shop

David Fournier has been involved with The Marfan Foundation since 2001. He recently completed his Master’s degree in library and lnformation science, and is a life-long learner. David is a member of the Foundation’s Marfan Writing Group.

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ESTATE PLANNING

“I WANT THE WORK OF THE FOUNDATION TO GO FORWARD WHETHER I’M HERE OR NOT” Estate planning is your final statement about the causes you care about

other related disorders,” said Chris. “Support of the Foundation is the easiest, most natural place for me to have an impact. I know that lives will be changed vastly for the better.” A final gift Chris, who has faced countless medical challenges related to Marfan, acknowl- edges that “I won’t be here forever to write checks.” That’s why he wants to arrange, in advance, to make one “final statement.” When I think about why I wanted to give a final contribution to The Marfan Foundation through my will, two things came to mind. First, it's my final “thank you” to an organization that has done so much for my care and well-being and done so much for the care of many who are now part of my far-flung Marfamily. The work done by the Foundation helped me immeasurably to navigate my compli- cated medical life with greater ease and clarity than I could have ever done on my own or through any other medical support channels. Secondly, I want the work of the

CHRIS HEANEY AND SAYLER FERRIN AT A RECENT ANNUAL CONFERENCE.

Over the past 20 years, Chris Heaney has been involved with The Marfan Foundation in a myriad of ways on both the local and national level. He has provided exemplary leadership on the Board of Directors, led workshops at conference where he has shared his personal medical experience and insights, and served as a role model to the teens with the goal of teaching them to live successfully with their diagnosis. Throughout this time, not only has Chris been generous with his time and talent, but he has also been generous with his financial resources. He has directed his contributions to programs and projects that are most important to him, such as scholarships for people to attend the Foundation’s annual conference. “I want the world to be a better place for me having been here. I would also like to help people counter-balance some of the burden of having Marfan, Loeys Dietz syndrome, and

Foundation to go forward whether I'm here or not. I want a future where people get the knowledge they need to take the best possible care of themselves. I want a future where there's a vibrant community of people who are fiercely loving in their support of one another in tough times. I want a future where brilliant research resets the game for those of us living with a connective tissue disorder. If you or a loved one have been touched or inspired in some way by the work of the Foundation during your life- time, I encourage you to say your "thank you" and help the work go on; make a contribution through your estate plan. If you would like to discuss including The Marfan Foundation in your estate plan, please contact Megan Martin, director of national philanthropy, mmartin@marfan.org or 516.883.8712, ext. 160.

14 Marfan.org

TRIBUTES

WE REMEMBER AND HONOR We are grateful to our members and friends who have made contributions in memory of, or in honor of, the following individuals. 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 connective tissue disorders.

ANTOINE MARFAN LEGACY SOCIETY

Only through your donations can we create a brighter future for the thousands of children and families living with Marfan syndrome and related disorders. The Antoine Marfan Legacy Society recognizes those who are building a personal legacy that reflects the priorities of their lives and funds those priorities far into the future. All planned giving donors receive membership in the Society. We can help individuals and families tailor current and planned gifts that are appro- priate for their personal estate planning needs for today and for years to come. Planned giving vehicles include wills and bequests, life insurance, appreciated property, charitable remainder trusts, and charitable lead trusts. For more information and to discuss your plans, please contact Megan Martin, director of national philan- thropy, mmartin@marfan.org or 516.883.8712, ext. 160.

Donations In Memory of: Carol, Adrian, and Elias Adame

Bryan Butvick Austin Carlile Louise Chudnofsky Leo Cole Kartik Dhumawat James Dickey Haley Dostalik Deej Edwards Jay Elliott Chandler Fliege Heather Gooch Azaria Halttunen William Harvey Stephen Infalt Barbara Lerman Jerry Lerman Jonathan Lerman Sydney Lerman Owen Lipinski Joshua Looney Ward Malloy Kyle Mann Michael Miller Ryan O'Sullivan Reed Pyeritz, MD, PhD Lisa Ritell

Sandra Marinbach Mary McCabe Sheridan Patrick McCabe Patricia McNeill Patricia Moran Sandy Morris Anne Newman William Otterson Michael Pass Christopher Paulsen Alan Pinkerton Emily Rauschenbach Andrew Rexroth David Ricca Ilene Roberts Betty Santina Spencer Sellas Mark Silver Stephen Simeone Phyllis Taylor Collin Trebesch LuVan Voris Shraga Feivel Ben Avner V'rachel Zachary Wallace Brock Robertson Ethan Robinson Kathy Robinson Julie Roos Wendy Weiss Becky White Victor Willhoite Aubry Woodbridge Jeffrey Wurst Donations In Honor of: Aaron Aguayo Edith Black

Shana Albough Mary Anderson Flora Andrews Vicki Asbury Barbara Ausbrooks McKenzie Bailey Zoe Mae Bayouth William Biehl Barbara Bowling Billie Jean Buckalew Richard Bunting Thelma Drobac Clifton Durand Thomas Duzzie Todd French Amelia Giampietro Jay Goret Stephanie Green Fred Hearn John Heinemann James Hinds Dwight Hurst Allen Jacobs Ann Jarosz Gail Johnson Michael Jordan Nancy Kugel Jonathan Larson Ron LeHew Don Manderfeld Sarah Cayo Alex Connor Connie Cooke Jacquie Dixon Philip Dreier

Lynn Sakai Lilly Shaw Jean Shenk

Colin Shields Sarah Singh Casey Sprouse Seth Tennant Stephanie Tokos Sonja Vogel Linda Watts Emily Wheeler Jane Zore

Winter 2018 15

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22 MANHASSET AVENUE PORT WASHINGTON, NY 11050

SAVE THE DATE!

The Marfan Foundation’s 34th Annual Conference will be held in Santa Clara, CA, July 12–15, 2018. Stanford University Medical Center hosts as we bring the conference back to the west coast for the first time in five years. Our Professional Advisory Board and medical professionals from Stanford will present and lead workshops on medical topics. In addition, quality of life experts will

present on strategies and techniques to improve your daily life. Special work- shops will be offered for those with related disorders. As always, there will be age-appropriate programs for children, teens, and young adults, and plenty of time for attendees of all ages to connect with each other. Appointments for the patient health fair and scholarships will also be available. Registration will be open soon!