Fall 2010 - National Marfan Foundation

National MarfanFoundation: Education, Research and Supportforthe Marfan Community
What’s Inside
Clinical Trial Update ............3
2010 Conference ............5–14
Medical Presentations ........5
Pediatric Issues .............6
MedQuest ..................7
Traveling for Surgery .........8
Living Successfully Panel ....10
Awards ...................12
NMF Resources ...............16
National Volunteer
Network ...................19–21
Fall 2010
Vol.29, No.3
Annual Conference Report Inside
Revised Diagnostic Criteria for
Marfan Syndrome Published in
Journal of Medical Genetics
An international panel of experts in the diagnosis and management of Marfan syndrome
have published revised diagnostic criteria for the disorder, thus simplifying
the evaluation process for physicians. The new diagnostic process—which continues
to be based primarily on a multi-system clinical examination—will provide patients
with a more accurate diagnosis and better medical management. The revised criteria
for Marfan syndrome were published in July in the Journal of Medical Genetics (J Med
Genet 2010; 47:476-485).
“The diagnostic evaluation for Marfan syndrome is unavoidably complex due
to the highly variable presentation of affected individuals, the age-dependent nature
of many of its manifestations, absence of gold standards and its extensive differential
diagnosis,” said Bart Loeys, MD, Center for Medical Genetics, Ghent University
Continues on page 15
NMF’s 26thAnnualConference inHoustonEmpowers
Attendees Through Informationand Community Support
More than 400 individuals, families and medical professionals
gathered in Houston, TX, for the NMF’s 26th Annual Conference,
July 8–11. The conference was co-hosted by Baylor College of
Medicine and The University of Texas Health Science Center at
Houston (UTHealth).
The NMF is especially grateful to the two doctors who spearheaded
the conference initiative: Dianna Milewicz, MD, PhD,
President George H.W. Bush Chair of Cardiovascular Medicine
and Professor and Director of the Division of Medical Genetics,
The University of Texas Medical School at Houston, and Joseph
Coselli, MD, Chief of the Division of Cardiothoracic Surgery and
Professor of Surgery in the Michael E. DeBakey Department of
Surgery at Baylor College of Medicine. Both doctors have a longtime
commitment to the NMF and are among a select group of
clinicians and researchers who serve on its Professional Advisory
Board (PAB); Dr. Milewicz served as PAB Chair from 2004–2010.
The conference provided a wealth of medical information from
the country’s leading experts on various aspects of Marfan syndrome
and related disorders, giving people guidance on management and
treatment of the condition that they could take back to their
healthcare providers at home.
Continues on page 11
Programs for youngandold provided information and support
to all conference attendees.

2
Connective Issues
Dates &Deadlines
September
Sept. 20
Sept. 26
October
October
October 2
October 3
October 16
October 17
October 23
October 23
October 24
October 24
October 29
November
November 1
November 7
November 15
November 18
Fall 2010
St. LouisChapter Meeting, Barnes-Jewish Hospital,7:00–9:00pm
Contact: David Striker, 314-542-2413 or dasmd913@aol.com
Massachusetts Chapter Annual Get Together, Winthrop, 1:00–5:00 pm
Contact: Jon Rodis, 617-846-4975 or jrmarfan58@aol.com
NMF Research FundDrive Begins
Chapter Quarterly Financial Form Due
Workplace Campaigns Kickoff:
♥ Combined Federal Campaign (CFC)
♥ Health First-America’s Charities
♥ United Way
10th Annual Northern CAChapterFamilyBBQ/Fundraiser, Castro
Valley, 1:00–5:00 pm
Contact: Susan Meier, 916-632-3214 or susan.meier@starstream.net
Southeast Florida NetworkGroup Meeting, Memorial Regional
Hospital South, 2:00 pm
Contact: MJ Freeman: 954-561-5096 or freemanmj@bellsouth.net
Northeast Indiana Network Group Meeting at Parkview Women’s
Health Center in Fort Wayne; 1:00 pm
Contact Ellen England, 260-925-4041 or eeengland@gmail.com
Los Angeles/Orange CountyNMF Network’s AnnualLuncheon at
UCLA’s FacultyCenter
Contact: Roelina Berst, (310) 476-6190 or Roelinab@roadrunner.com
or Regine Wood Bluestein, (310) 779-8206 or Reginew33@aol.com
2Stridesfor Sarah—5Krun/1 mile walk, McAllister Park, San
Antonio, TX
Contact: Rachel Epperson, 210-402-3563 or scooscoodog@yahoo.com
PennJersey Chapter’sMonte CarloMadness,7:00–11:00 pm at
Aloft Hotel,Mt. Laurel, NJ
Contact: Annette & Dan Makanoff, 856-751-1796 or
dmakanoff@comcast.net
Massachusetts Chapter “Heart toHeart”Support Meeting,
12:00 noon in Framingham
Contact: Jon Rodis, 617-846-4975 or jrmarfan58@aol.com
Houston Network Group Potluck Picnic in the Park, Tom Bass III Park—
Pavilion #4; 12:00 noon–4:00 pm.
Contact: Leah Goodman, 337-517-8636 or houstonmarfangroup@hotmail.com
Omaha Network Group Halloween Pizza Party
Contact: Sherry Heldt, 402-932-4505 or roshawco@hotmail.com
Deadline forWinter ‘11Connective Issues submissions
Southeast FloridaNetwork Group Meeting, MemorialRegional
Hospital South, 2:00 pm
Contact: MJ Freeman, 954-561-5096 or freemanmj@bellsouth.net
St. Louis ChapterMeeting,Barnes-Jewish Hospital;7:00–9:00pm
Contact: David Striker, 314-542-2413 or dasmd913@aol.com
Heartworks Atlanta
Contact: Kristin Braun, 516-883-8712 ext. 24 or kbraun@marfan.org
For moredetailsabout upcoming events
and meetings, besuretocheckthe NMF
Calendar on our website, www.marfan.org.
22 Manhasset Avenue
Port Washington, NY 11050
516-883-8712 |800-8-MARFAN
www.marfan.org
More online at
www.marfan.org
Boards &Staff
Board ofDirectors
Jon Tullis, Chair, PA
Gavin Lindberg, ViceChair, MD
Raymond Chevallier, Treasurer,NY
Mary J. Roman, MD, Secretary, NY
Susan Falco, ExecutiveCommittee Member-at-Large, NY
Gary Kauffman, Executive CommitteeMember-at-Large, FL
Karen Murray, Executive CommitteeMember-at-Large, NY
Scott Avitabile, Member-at-Large,NJ
Maya Brown-Zimmerman, Member-at-Large,CA
Steven Crombe, Member-at-Large,FL
Teri Dean, Member-at-Large,IA
Barbara Heller, Member-at-Large, MD
Jerry Lerman, Member-at-Large, NY
Kathleen Mimnagh, MD, Member-at-Large,WV
Diane M. Sixsmith, MD, Member-at-Large,NY
Benjamin Weisman, Member-at-Large, MA
Priscilla Ciccariello, ChairEmeritus,NY
Michael Weamer, Board Advisor, NY
Professional AdvisoryBoard
Alan C. Braverman, MD, Chair, WashingtonUniversity School of Medicine, MO
Peter H. Byers, MD, University of Washington SchoolofMedicine,WA
Duke Cameron, MD, Johns HopkinsHospital, MD
Heidi Connolly, MD, Mayo Clinic, MN
Joseph S. Coselli, MD, Baylor College ofMedicineandSt. Luke’s Episcopal Hospital, TX
Jessica G. Davis, MD, New YorkPresbyterian Hospital-Weill Cornell Medical Center, NY
Richard B. Devereux, MD, New York Presbyterian Hospital-Weill Cornell Medical Center, NY
Hal Dietz, MD, JohnsHopkinsHospital, MD
Sylvia A. Frazier-Bowers, DDS, PhD, University of North Carolina atChapelHill, NC
Ronald V. Lacro, MD, Children’sHospital Boston. MA
Irene Maumenee, MD, University of Illinois Eye andEar Infirmary, IL
Dianna Milewicz, MD, PhD, University of Texas Houston Health Science Center,TX
D. Craig Miller, MD, Stanford University School ofMedicine,CA
Reed E. Pyeritz, MD, PhD, University of Pennsylvania School ofMedicine,PA
Francesco Ramirez, PhD, Mount Sinai SchoolofMedicine,NY
David L. Rimoin, MD, PhD, Cedars-SinaiMedical Center, CA
Lynn Y. Sakai, PhD, Oregon Health Sciences University, OR
Paul D. Sponseller, MD, Johns HopkinsHospital, MD
Vincent L. Gott, MD, Johns HopkinsHospital, MD, Member Emeritus
Victor A. McKusick, MD (1921–2008)
Scientific Advisory Board
Bjorn Olsen, MD, PhD, Chair, HarvardMedicalSchool, MA
Craig T. Basson, MD, PhD, Novartis Institutes for Biomedical Research, MA
John C. Carey, MD, Universityof Utah HealthSciences Center, UT
Bruce D. Gelb, M.D., Mount SinaiSchool of Medicine, NY
Christine Seidman, MD, Harvard Medical School, MA
Robert W. Thompson, MD, Washington UniversitySchool ofMedicine,MO
Richard J. Wenstrup, MD, MyriadGenetic Laboratories, Inc.,UT
Victor A. McKusick, MD (1921–2008)
Staff
Carolyn Levering, President&CEO
Judy Gibaldi, SeniorVice President,Operations&Finance
Josephine Grima, PhD, VicePresident ofResearch&GovernmentRelations
Jennifer Buffone, LCSW, Directorof Support Services&VolunteerDevelopment
Jennifer Grignoli, Directorof Development
Maggie Hogan, Directorof Foundation Relations &ConferencePlanning
Jonathan Martin, Directorof Education &AwarenessPrograms
Eileen Masciale, Directorof Communications, Newsletter Editor
Brian Polk, Directorof Information Technology
Cathie Tsuchiya, AdministrativeDirector&LocalFundraising Coordinator
Kathy Jeffers, Managerof Volunteer Development
Amy Kaplan, RN, Manager,InformationResourceCenter
Alexandra Dubow, Design&Production

Connective Issues
Atenolol vs. LosartanClinical Trial at 90% Enrollment:
Final Opportunity to Participate
As of August 10, there were 559 people enrolled in the
atenolol vs. losartan clinical trial, which is looking at the effect
of the two drugs on the aorta of people, age six months to 25
years of age, with Marfan syndrome. That means only 45
more people are needed to reach full enrollment. If you have
afamilymemberwhomeetsthetrialcriteria(seeboxbelow),
this is your final chance to get involved in this critical study.
Why should you participate?
Do you have access to Marfan-knowledgeable doctors at
home? Have you always wanted your child to be seen by a
doctor at one of the country’s leading Marfan syndrome
clinics? This is your chance to receive medical care from
leading Marfan physicians—whether they are in New York,
Baltimore, St. Louis, Boston or any other trial site. Your
medical care that is part of the research is free. In addition,
the NMF can provide full scholarships for your travel and
accommodations during the course of the trial—that’s five
visits with doctors who know Marfan syndrome.
Here are some questions our members asked at the
Conference. Dr. Ron Lacro, Chidren’s Hospital Boston,
co-principal investigator of the trial, provided the answers.
Complete information about the clinical trial is available on
the NMF website, www.marfan.org.
If my child tried to enroll before but was not eligible,
can we check again to see if he may be eligible now?
Absolutely. If your child was not eligible in the past because
his or her aorta was not big enough to qualify or if he or she
did not meet the Ghent criteria for a Marfan syndrome diagnosis,
it is possible that he or she may be eligible now. You
should consult with your child’s physicians or a clinical trial
site. If you do not live near a Marfan study site, the NMF
can provide financial assistance to allow you to participate in
the study for three years. (Call 800-8-MARFAN, ext. 26, to
find out more about these scholarships.)
When will the clinical trial be completed so we can
determine if our four-year-old child should be put on
losartan?
We need to enroll 604 subjects to complete the trial, and we
are more than 90 percent of the way there. We hope to complete
enrollment by the end of 2010. Then everyone needs
to be followed for three years. Therefore, we expect that in
2014 the main trial results will be analyzed and reported.
There was research presented at the conference that
showed positive results from losartan. If my child is in
the study but appears to be taking atenolol, should he
withdraw and be put on losartan?
We have all heard the encouraging reports that losartan may
be a promising alternative to beta blockers, such as atenolol,
for treatment of individuals with Marfan syndrome. Most of
these reports involve studies in animals or small numbers of
children with extremely severe Marfan syndrome. Unfortunately,
until we get the results from the trial, no one will really know
which of these treatments—atenolol or losartan—is better
for most people with Marfan syndrome. Therefore, it is very
important for participants who are in the trial to continue on
their assigned therapies so we can determine which therapy is
better. If the study shows that losartan is effective, the FDA
can approve the use of losartan for people with Marfan syndrome,
and your insurance company will be more likely to
cover the cost of losartan.
If the results from the trial are positive, will the
recommendation be for a person to continue their
beta blocker and add losartan?
Our trial is studying whether or not atenolol is more effective
than losartan. We are not studying the effects of combination
therapy. Other trials, such as a study currently being conducted
in Italy, will determine whether taking both atenolol and
losartan together is better than taking atenolol alone. We
hope that the results of many studies currently being done
will determine which therapies and which doses are best.
Ultimately, your physician or your child’s physician will
tailor the therapy that is best for your clinical situation.
Who CanBe in the Trial?
To be in the clinical trial you must:
• Be betweenthe ages of six months and25 years atthe
time you beginthe trial.
• Have adiagnosisof Marfan syndrome.
• Not be pregnant.
• Not have had any aorticsurgery.
• Not have serious side effects from either atenolol or losartan.
• Not need to take atenololoranotherbeta blocker to treat a
medical problem other than your dilated aorta.
• Be willingand able to travel 5timesover 3yearstothe
study siteforall studyechocardiograms and examinations.
Volume 29, No. 3 3

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Connective Issues
Alan Braverman, MD, NamedChair of the NMF
Professional Advisory Board
Alan Braverman, MD, Director of the Marfan Syndrome
Clinic at Washington University Medical Center in St. Louis,
has been named Chair of the NMF’s Professional Advisory
Board (PAB). Dr. Braverman, a valuable member of the PAB
since 1999, is professionally and personally committed to
the NMF; he lost his father to Marfan syndrome and has a
brother and nephew who are affected.
Dr. Braverman, who is Director and Chief-of-Service for
the Inpatient Cardiology Unit at Barnes-Jewish Hospital and
afacultymemberattheCenterforDiseasesoftheThoracic
Aorta there, was recently appointed Alumni Endowed Professor
of Cardiovascular Diseases at Washington University School
of Medicine. In addition, he has conducted extensive research
on Marfan syndrome. Most recently, he published Acute
Aortic Dissection: Clinician Update in the journal Circulation.
Along-timeadvisortotheNMF’sSt.LouisChapter,
Dr. Braverman is committed to all aspects of the NMF’s
mission. He has hosted the NMF’s Annual Conference twice,
in 1995 and in 2005, and has conducted numerous interviews
with the St. Louis media to educate the public about Marfan
syndrome. In addition, he and his wife, Rebecca, established
Heartworks St. Louis, an extraordinary fundraiser for the NMF
that has captured the attention of the local medical community,
the local chapter and so many others in the St. Louis area.
“It is my honor and privilege to serve the NMF as chair
of the PAB. The clinicians, scientists and researchers who make
up the board are professionals dedicated to the research and
Hal Dietz,MD,Honored by Genetic Alliance
NMF Professional Advisory Board member Hal Dietz, MD,
was the 2010 recipient of Genetic Alliance’s Art of Listening
Award, which was presented on July 17. He was nominated for
this honor by members of the NMF’s Mid-Atlantic Chapter.
“Listening and communicating
are skills we so often take for granted,
but they are critical in breaking new
ground in healthcare,” said Sharon
Terry, president and CEO of Genetic
Alliance.
Aworld-renownedclinicianand
researcher, Dr. Dietz was selected for
the Art of Listening Award for being a
role model for fellow clinicians and
researchers as well as an inspiration to patients. He holds
prominent positions as the Victor A. McKusick Professor of
Genetics and Medicine at the Johns Hopkins University
Fall 2010
Hal Dietz, MD, listenedto the concerns of the teens at the
Annual Conference thissummer.
Alan Braverman(seated,center) with membersof the NMF Professional Advisory Board
at the NMF Annual Conference.
care for people with Marfan syndrome and related disorders,”
said Dr. Braverman. “I will draw upon my relationships with
the NMF, the members of the PAB and our patients to help
promote the best interests of the Foundation.”
“Dr. Braverman has been a long-time friend and advisor
to the NMF and the Marfan syndrome and related disorders
community. We are so grateful for his dedication to research
and patient care on this family of conditions and for his willingness
to always share his time and expertise with us,” said
Carolyn Levering, NMF President and CEO.
The NMF is grateful to Dianna Milewicz, MD, PhD, for
her six years of service as chair of the PAB.
School of Medicine, as an investigator in the Howard Hughes
Medical Institute, and as director of the William S. Smilow
Center for Marfan Research.
Just as significantly, though, Dr. Dietz has volunteered
thousands of hours to advance the NMF’s
mission of education, research and
support. As Ms. Terry described, “In an
age in which health providers are hardpressed
to pay attention to patients,
Hal Dietz is a star. He is amazingly
attentive to the needs of individuals and
families affected by genetic conditions.
The outpouring of love for him in the
letters of support we received for his
nomination was both overwhelming and inspiring.”
“We congratulate Dr. Dietz on this well-deserved honor,”
said Carolyn Levering, NMF President and CEO.

Medical Presentations: KeyPoints
The plenary session at the Annual Conference is always
enlightening, featuring general information about diagnosis
and management of Marfan syndrome and related disorders,
as well as treatment and research updates. Here are highlights
from three of the presentations.
Dianna Milewicz, MD, PhD
University of Texas Medical School at
Houston
Many people in the Marfan syndrome and related
disorders community have a difficult time
getting the correct diagnosis. However, it is very
important to have an accurate diagnosis because:
• Your doctors can then predict complications
that are associated with your condition
and take steps to prevent them; they
can also give you a more accurate prognosis
for your future health
• Your diagnosis, if it has a genetic basis,
can affect other family members; if one
family member is affected, others need to
be evaluated and be treated appropriately
• The course of medical treatment is
dependent on your diagnosis. For example,
different imaging is recommended for people
with Marfan syndrome, who are at
risk for aortic aneurysms, and people with
Loeys-Dietz syndrome, who are at risk of
aneurysms throughout their arterial tree.
• Having a diagnosis often means that you
are “labeled;” being labeled inappropriately
can have a negative impact —whether
it’s how you perceive yourself or how others
perceive you.
• Clinical research requires people who meet
certain criteria to ensure the accuracy of a
study. That’s why, for example, people in
the atenolol vs. losartan trial must meet
the Ghent criteria for Marfan syndrome.
Heidi Connolly, MD
Mayo Clinic
People with Marfan syndrome are often confused about the
imaging they need for their aorta to be monitored effectively.
Here are some guidelines:
Pictured above from top:
Dianna Milewicz,MD, PhD
Heidi Connolly, MD
Irene Maumenee, MD
Connective Issues
• Have an initial transthoracic echocardiogram (TTE) to
look at the ascending aorta, as well as a baseline CT and
MRI to confirm the size of the aortic root measured by
echo and to look at the aortic arch and descending aorta.
If the TTE and CT/MRI demonstrate the same
aortic dimension, TTE can be used to follow
aortic dimension
• Repeat theTTE six months later to make
sure the aorta is not enlarging (rate of
enlargement is critical). If the aorta is under
4.5 cm, then the TTE can be repeated
annually; if the aorta is greater than 4.5
cm, or if it is expanding rapidly, the TTE
should be performed every six months to
determine the best time for surgery (before
the aorta tears or ruptures).
• An MRI or CT scan should be performed
every few years to confirm measurements
obtained by TTE and look at the rest of the
aorta (aortic arch and descending aorta).
Irene Maumenee, MD
University of Illinois Eye and Ear Infirmary
To best take care of your Marfan eyes, it is
important to have an annual exam so that
your doctor can establish a “baseline,” what is
normal for you. Visit the ophthalmologist
before there is a problem.
Potential eye issues in Marfan syndrome
are: poor visual acuity, asymmetric acuity and
strabismus. If you experience an acute loss of
vision, call your eye doctor immediately.
Dislocated lenses are a hallmark feature of
Marfan syndrome. Lens dislocation is a slowly
progressive condition. It typically worsens
between the ages of 2–4 years of age and
12–15 years of age. It is recommended that
surgery to remove the lens not be performed
before the individual is 15 or 16 years of age.
Many doctors rush to take out the lens because
they are more focused on operating to fix the
problem rather than trying to correct refractive
errors through the use of glasses. Shop around to
find a doctor who is willing to work with you.
Lens dislocation is not a characteristic of Loeys-Dietz
syndrome.
Volume 29, No. 3 5

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Connective Issues
During the conference plenary session, NMF Professional
Advisory Board member Ron Lacro, MD, Department of
Cardiology, Children’s Hospital Boston, gave a presentation
about children’s issues with Marfan syndrome. Here is an
overview.
Z-Scores
During childhood, the normal aorta grows in proportion to
body growth. When evaluating the size of the aorta, it is
important to note whether the increase in size is related to
normal growth or to progression of severity of aortic dilation.
The Z-score is the number of standard deviations above/
below average (how far from average the size of the aorta is).
Therefore, a Z-score of 0 is the average expected value; a
Z-score of +3 is 3 standard deviations above the average and
aZ-scoreof+5is5standarddeviationsabovetheaverage.
“Normal” is considered between -2 and +2.
Cardiac Complications in Children
Cardiac issues in children with Marfan syndrome are similar
to those in adults, but children do not require surgery nearly
as often. The issues that necessitate surgery in both age groups
are the same: aortic root dilation/aortic regurgitation and
mitral valve prolapse/mitral regurgitation.
Sports and Exercise
Striking an appropriate balance of sports and exercise is perhaps
the biggest challenge in the management of Marfan syndrome
in children and teens. The exercise recommendation should
take into account the individual’s orthopedic, ocular and
cardiovascular status.
It is important to note that mild to moderate levels of
aerobic exercise are beneficial to the cardiovascular and
musculoskeletal systems for everyone, including people with
Marfan syndrome. The affected person needs to understand
what they can do and their limits. This is different for each
person and should be discussed with the doctor. Parents, family
members and peers are important for providing psychosocial
support for the affected person as they strive to achieve moderation
in sports and exercise.
There are some specific guidelines for sports and exercise
in Marfan syndrome:
• Avoid heavy weightlifting (body building)
• Avoid heavy contact sports and highly
competitive sports
• Avoid exercising to exhaustion; rest
• Talk to your doctors at every visit
Fall 2010
Pediatric Issues in Marfan Syndrome
• Think “recreation” rather
than “competition”
• Be committed to routine
medical follow-up, prophylactic
therapy and
blood pressure control
Transitioning of Care and
Transfer to Adult Providers
According to Robert Blum,
Network on Transitions to
Adult-hood, transitioning to
adult care is “the purposeful,
planned movement of adolescents and young adults with
chronic physical and medical conditions from child-centered
to adult oriented health-care systems.” The key issues are:
• Patient education and preparation for self-care
• Preparation of the parents to relinquish control
• Timing of transition and transfer; depends on age,
maturity, life circumstances, adult-oriented needs (e.g.,
OB/GYN), availability of adult providers, programs and
facilities
Ask your child’s doctor how the medical center handles the
transitioning of care. Centers use different models to achieve
acomfortable,successfultransitionfromchild-orientedto
adult-oriented care.
Families should realize that it is never too early to start
planning for transitioning. However, transitioning during a
time of crisis (e.g., surgery) is not recommended.
It is important to be aware of the potential barriers to
successful transitioning to avoid a gap in care. Preparation
and becoming better informed can help to overcome these
challenges. Some barriers are:
• A patient or family’s incomplete understanding of the
illness, management and potential outcomes
• Insurance issues that could arise, limiting coverage
• Racial- or gender-based, emerging from a family's values
and belief system
• Provider reluctance to the transition
Ron Lacro,MD, with Kaitlin Aldrich, 16,of
Fort Worth, TX, at the Conference clinic.
• Adolescent attitudes of invincibility, denial, challenge to
authority; at-risk behaviors.
Families can discuss these potential obstacles and talk to their
healthcare providers before it’s time for the transition to ensure
that the teen is ready to take responsibility for their own care.

MedQuest: Conference Q&A
Connective Issues
In this issue of Connective Issues, questionsandanswersfromthegeneralsessionattheAnnualConferencearefeatured.
What are the symptoms of retinal detachment?
Someone who is experiencing a retinal detachment will
notice a loss of vision; it may seem that a curtain is in front
of their eyes, reducing vision. These signs should be taken
seriously; talk to your ophthalmologist immediately.
Irene Maumenee, MD
After someone experiences an aortic dissection
and has itrepaired,what kindof imaging is
required?
After a dissection and repair of the ascending aorta, it is
essential that regular imaging be continued, especially to
monitor the descending aorta. At first, the patient should
have a CT scan or MRI every three months; however, once
the physician deems that the aorta is stable, the imaging can
be done annually. Heidi Connolly, MD
Can an individual resume normal sports activity
after they have aortic surgery?
Absolutely not. After the ascending aorta is repaired, the rest
of the vessel—the aortic arch and descending aorta—remains
at risk. Continued vigilance is required. Dr. Connolly
Is it possible tobediagnosedwith both
Marfan syndrome and Loeys-Dietz syndrome?
ApersonwithLoeys-Dietzsyndrome(LDS)maymeetthe
critieria for Marfan syndrome, however, they will have additional
features that actually distinguish their condition from
Marfan syndrome and point to the LDS diagnosis. These
features include a bifid uvula and tortuous (twisting) arteries.
Dianna Milewicz, MD, PhD
Should peoplewithMarfan syndrome worry
about brain aneurysms?
Brain or intracranial aneurysms are very rare in Marfan syndrome.
If your family does have a history of these kind of
aneurysms, you could be at a greater risk and should talk to
your doctor. People with Loeys-Dietz syndrome are at risk
for aneurysms throughout their body, including in their brain,
and require imaging of their brain frequently to monitor
their arteries. Dr. Milewicz
Conference attendees had an opportunity to ask questions ofthespeakers immediately following the presentations.
Volume 29, No. 3 7

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Connective Issues
Many people in the Marfan syndrome and related disorders
community travel to experienced centers to have their aortic
surgery. Regardless of where you are traveling—to the East
Coast, the West Coast or somewhere in between—it is important
to know what to expect and have a plan before you go.
Here are some guidelines from NMF Professional Advisory
Board member Duke Cameron, MD, Professor of Surgery,
Johns Hopkins Hospital. These are based on Dr. Cameron’s
long-time experience at Johns Hopkins in Baltimore. Check
with your surgeon for the specific process where you are having
surgery.
• Plan to arrive a day or two before your surgery for your
pre-op appointment and to re-meet your surgeon.
• Usually, you are asked to come to the hospital for the
surgery on the day of the operation.
• For children, the surgery is usually scheduled early in the
morning and lasts about 4–5 hours.
• After the surgery, the patient is taken to intensive care;
if all goes well, the stay in ICU is for a day or two.
• If everything goes well, you can expect a hospital stay of
5–7 days.
• How long you stay in the area before traveling home
depends on several things, including mode of transportation
(flying or driving) and how well the patient feels. In
general, plan to say in the area for at least 3–4 days—
even a week—after being discharged from the hospital.
Fall 2010
Are you Travelingfor Surgery?
Insights fromSurgeon Duke Cameron, MD
Dr. DukeCameron
Heather HolmesFloyd and her son Henry
Before you travel to the hospital where the surgery will take
place, have a plan in place for when you return home. Specifically,
you need to make sure you know which doctor to follow
up with and who will handle any medical issues, if they arise.
Make sure that your doctor at home knows how to reach the
surgeon, if necessary. After the surgery is not the time to
scramble!
Here are additional tips from Heather Holmes Floyd, of
Newton, MA, whose son Henry had aortic surgery at Johns
Hopkins in November 2007, when he was just 13 years old.
• We booked the hotel for the entire duration of the time
we were in Baltimore, though there were nights that no
one stayed there because we were in the hospital. It was
nice to have the hotel as a home base to keep our stuff, take
showers, etc.
• We planned to have loved ones there to help support us,
to provide relief for me so I could go to the hotel, shower
and take a nap, or just take a break. Only plan to have
people travel to see you who will truly support you.
• Ask for what you need! It was difficult for us to travel to
Baltimore a week prior for the pre-op so we asked if we
could do the pre-op the day before the surgery and they
approved this request.
Continues on page 17

Conference Workshops:Whatdidyou learn?
Susan Meier
Rocklin, CA
Growing Older with Marfan Syndrome
Ongoing imaging is important, but I
learned that I should avoid repeated CT
scans to reduce the amount of radiation
Iamexposedto.Unlessthereisaspecific
reason to have a CT scan, I should
have an MRI instead.
Teri Dean
Pleasant Hill, IA
Loeys-Dietz Syndrome
IlearnedalotaboutLoeys-Dietzsyndrome
to take back to the LDS families
in my chapter. I attended the workshop
so I could get information for the
group.
Ocular Concerns
IwasremindedthatpeoplewithMarfansyndromeareatrisk
of early glaucoma. I’m going to encourage my son Derrick,
who is 38, to see a glaucoma specialist to get screened.
Dennis McClung
Mesa, AZ
Lou Arias
Washington Township, NJ
Medical Insurance and Disability Issues
Growing Older with Marfan Syndrome
IlearnedthatIcantakeadvantageof
clinical trials to get expert care if I don’t
have insurance.
Attending this workshop reinforced that
Iamexercisingcorrectly—inmoderation
and within the limitations of Marfan
syndrome.
Roger Tolar
Keller, TX
Excercise and Staying Fit
We now realize that activity is important
for our 12-year-old and will be lifting
some of the restrictions because there
are things she can safely do.
Steve Reiff
Decatur, GA
Aortic Surgery
Connective Issues
Nadine Spain, Winter Springs, FL
Aortic Surgery in Children and Teens
Italkedtoseveraloftheworld’sleading
surgeons in the world about my case. It
was an amazing opportunity.
Ineedbeconsciousofthesurgeonat
home. At this workshop, I learned that
Ishouldseekasecondopinionifthe
first surgeon is going too fast for me. I
need to trust my instincts and “shop
around” when it comes to surgery for
my daughter.
Did YouKnow...
Aphysicalmedicineandrehabilitation specialist can play an
important role as you growolder with Marfan syndrome. He or
she can help you strengthen your core and work with you to help
to retain flexibility while still protectingyour joints. They can
adapt programs based on your Marfan syndrome limitations to
help you function better and be more comfortable. In some
cases, this canalso helpalleviate pain.
Reed Pyertiz, MD, PhD, University of Pennsylvania
School ofMedicine
Growing Older with Marfan Syndrome Workshop
Getting enough sleep canhelp youcontrol pain.If you don’tget
enough sleep, your pain will be less tolerable. Sleephygieneis
important for everyone,but especially ifyouhave other medical
issues to contend with. Don’t do anything over-stimulating before
bed (exercise, video games) and don’t take long naps (more than
20 or 30 minutes) during the day. Do something soothing before
it’s time to go to bed and try to go to bed at the same time every
night.
Nancy Glass, MD, Texas Children’s Hospital
Pediatric Pain Management Workshop
Look forachildlife programin the hospital where yourchild is
having aortic surgery. These programs helpeducate kids,teach
them about what’s about to happen andwhat to expect, and
engage themin an age-specific way. They helpidentify achild’s
fears and,in extreme cases,referthem to acounselorto help
them cope.
Duke Cameron,MD, Johns HopkinsHospital
Aortic Surgery in Children Workshop
Volume 29, No. 3 9

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Connective Issues
Chris (diagnosed with Marfan syndrome at the age of three
after the death of his father from Marfan syndrome):
Ifiguredoutwhatmytalentswereandusedthem.Iwantto
live in a great community, so I worked with the Marfan support
groups in the states I have lived. I had to make sure I knew
how to take care of myself. Then, I decided to take the time
Ihaveanduseitwell.Youneedtoaskyourself,“What’smy
choice?” Everyone has the capacity to do this and then make
the choices that will help you have a great life.
Steve (diagnosed with Marfan syndrome at the age of 25
after suffering an aortic dissection):
Living Successfully Panel Offers Tips for Coping
with Marfan Syndrome and Related Disorders
The closing program of the conference is always a highlight. It features a panel called Living Successfully with Marfan Syndrome
and Related Disorders.ThemoderatorthisyearwasChrisHeaney,ofAustin,TX.ThepanelistswereKaddyAckroyd,ofSalem,
NH, Peter Donato, of Framingham, MA, Rachel Epperson, of San Antonio, TX, and Steve Marpman, of Queens, NY. Each
offered their personal insights into living successfully.
My goal was always to find a way to make Marfan syndrome
part of my life, without letting it take over my life. I am
active in trying to help other people. I try to give back as
much as I’ve gotten from this Marfan community because I
myself have received inspiration from so many people.
Fall 2010
Living Successfully: KaddyAckroyd (seated)with (L–R) PeterDonato,
Rachel Epperson, Steve Marpmanand Chris Heaney
Peter (16 year old with Loeys-Dietz syndrome):
My first conference was in 2006 and I had a blast. Plus, my
parents learned a lot so they didn’t have to worry as much. I
found it helpful to learn about my condition and talk to
teachers and other students at my school. It’s up to you to
make life the greatest you can.
Kaddy (diagnosed with Marfan syndrome at the age of 5):
IwillnotletMarfansyndromekeepmedown.Ijustkeepon
truckin’. I will share information with medical professionals
whenever I can. Even when I am in the hospital, I’ll ask, “You
haven’t seen Marfan syndrome? Come look at me. This is
what it is.” I do a lot to educate EMTs (emergency medical
technicians)—this can help save lives, even my own. I haven’t
let Marfan syndrome run my life. It’s true that I can’t run
around with the kids in the neighborhood, but I can knit. I
have found my outlets in things that I can do.
Rachel (mom to four-year-old Sarah, who has Marfan
syndrome):
Shortly after Sarah was diagnosed, I contacted a local support
group. I grappled with the questions: “Why?” “Why my kid?”
Then I realized that it doesn’t matter why. I just chucked
“why” out the window. I believe three things:
• God created Sarah how she is. She is the most beautiful
girl in the world. I tell her this every time I can. She is
not defined by Marfan syndrome just like my red hair
does not define me.
• I am Sarah’s caretaker. My responsibility is to learn and
learn and learn, and when school starts, I have to advocate,
advocate, advocate.
• I can hide my situation or I can broadcast it to the world.
The more people know, the better off we all are. That’s
why I started Strides for Sarah in 2009 (this year’s
fundraiser is scheduled for October 23 in San Antonio).
It’s up to you to tell people. You are not alone. There is so
much hope. I welcome anyone to ask me about my daughter.

NMF’s 26thAnnualConference
continued from page 1
The conference also provided extensive opportunities for
NMF members to network with each other—to laugh, to
cry, to share experiences with other people who are on the
same healthcare journey.
Highlights included:
• An extensive teen program featuring workshops and
activities geared to adolescents. The nearly 100 teens at
the conference also had an opportunity to meet with
several of the NMF PAB members and ask questions.
• A children’s program that kept approximately 45 six to
twelve year olds busy and entertained throughout the
weekend. They enjoyed age-appropriate Marfan-related
programming, as well as fun projects that promoted new
friendships.
• A free clinic at Baylor where conference participants
who do not have access to expert care at home could be
evaluated by the country’s leading medical experts on
Marfan syndrome and related disorders.
• Medical presentations and more than 60 small-group
workshops to address nearly every aspect of Marfan
syndrome and related disorders, and workshops geared for
special-interest groups such as 20 and 30-somethings,
older affected people, unaffected spouses, parents, fathers,
mothers and more.
• An award ceremony at which the NMF honored Dr.
Denton Cooley, the pioneering cardiovascular surgeon,
with the 2010 Antoine Marfan Award.
“It was a great honor for us to have the annual conference in
Houston, where the host institutions provide both worldclass
clinical and research experience with Marfan syndrome
and related disorders,” said NMF President and CEO Carolyn
Levering. “We were also thrilled to have the opportunity to
honor Dr. Cooley, whose surgical advances are life-saving for
people with Marfan syndrome and related disorders.”
Ireallylovetheseconferences.Ilearnedalotfrom
talking to others. I felt supported down my path, and had
achancetotalktopeopleaboutsomethingthataffects
my family and is so important to us. My kids want to go to
the Oregon conference next summer. We need the NMF,
and I pray it continues and grows as the
years go on.
Connective Issues
My son was recently diagnosed with Marfan
syndrome and it’s been so overwhelming for both of
us. We think it is so important that an event such as
the conference takes place because it gives the child,
as well as the parent, a chance to interact with others
living with this disorder. In addition, the amount of
information that is given at the conference
is invaluable.
Small group workshops withthe experts let conference attendees
share informationandask questions.
Cindy Amdur,FredClarkand their son Micah Amdur-Clark
Volume 29, No. 3 11

12
Connective Issues
Antoine Marfan Award
Denton Cooley, MD
Surgeon-in-Chief and President
Emeritus, Texas Heart Institute
Chief, Cardiovascular Surgery,
St. Luke’s Episcopal Hospital
In grateful recognition for his pioneering
work in cardiovascular surgery that has
contributed to the care of people with
Marfan syndrome.
Priscilla Ciccariello Award for
Outstanding Dedication and Service
to the Marfan Community
Chris Heaney
Awarded every year to a lay person who has
tirelessly given of him/herself to improve the
quality of life of people with Marfan syndrome.
Fall 2010
Chris Heaney Denton Cooley, MD (second fromleft),with the surgeons on the NMF’s PAB (L-R)Craig Miller, MD,
Duke Cameron,MD, and Joseph S. Coselli, MD
Dominga Noe, Katie Delgardo and Maya Brown-Zimmerman
Health Media Award
The Early Show, CBS-TV
In recognition of life-saving coverage of
Marfan syndrome and related disorders.
Scientific Leadership Award
Joseph S. Coselli, MD
Chief, Division of Cardiothoracic
Surgery, and Professor of Surgery,
Michael E. DeBakey Department of
Surgery, Baylor College of Medicine
For visionary leadership in support of the
Aortic Valve Operative Outcome Study
and for improving cardiovascular surgery
for people with Marfan syndrome.
Heart of the Matter Award
Maya Brown-Zimmerman
Jessica Berklite Brad Giacone
NMF 2010
Heartfelt Recognition Awards
Chapters
Northern California Chapter
Northern Illinois Chapter
Heart of Iowa Chapter
Massachusetts Chapter
Mid-Atlantic Chapter
Local Network Groups
New Hampshire/Vermont Local
Network Group
North Dakota Network Group
Organizations
Alpha Phi Omega at Case Western
Reserve University
Pro-cuts,Tucson,AZ
Tail Waggers 4-H Dog Club,
Knoxville, MD

Connective Issues
Maya Brown-Zimmerman Jon Rodisand Suzanne Kouri
Joseph Coselli,MD, and Carolyn Levering
Individual Members
Amy Avitabile, Bloomingdale,NJ
Michele Cripps,Torrance,CA
Rachel Epperson, SanAntonio,TX
Jon & Beth Gould, Verona,WI
Kathy Magee, SanAntonio,TX
Alix McLean Jennings, Madison,NJ
Sheila Murray, Erie,PA
Sharon Nasutovicz, Utica,NY
Stephanie Parkinson, DownersGrove,IL
Kid with a Heart Awards
Jessica Berklite, Centreville,VA
Peter Donato,Framingham,MA.
Brad Giacone, Metairie,LA
Andrew and Stephen Melin,
St. Helens, OR
Rebecca Shieh, SanJose,CA
Daniel Speck, Knoxville,MD
Rebecca Shieh Peter Donato
AWARDS
Family with Heart Award
Campbell Family, Oiltonand
Collinsville, OK
Wika Family, Modesto,CA
Jonathan Larson Legacy Award
Suzanne Bowman, Valencia,CA
Maya Brown-Zimmerman,Milpitas,CA
Katie Delgardo Chico, CA
Sherry Heldt, Omaha,NE
Charlotte Lusschen, CastroValley,CA
Dominga Noe, Carmichael,CA
In recognition of exceptional efforts to keep
the extraordinary legacy of Jonathan Larson,
creator of “RENT” and “tick…tick…
BOOM!” alive and to ensure that his art
continues to educate as well as entertain.
Heartfelt Recognition Awardrecipients: Front row (L-R): Teri Dean (Heart of Iowa Chapter),
Rene Jones (NH/VT Network Group), Rachel Epperson; Back row (L-R): Barb Neustadt
(Northern Illinois Chapter),Susan Meier (NorthernCaliforniaChapter), JonRodis
(Massachusetts Chapter), KathyMagee,and Ron Berklite(Mid-AtlanticChapter).
Outstanding and Continuous Service
as a National Conference Workshop
Presenter
Jon & Kathleen Rodis, Winthrop,MA
Suzanne Kouri, Lexington,MA
Tall Club Recognition Award
Paramount Tall Club of Chicago
Portland Skyliners
Central Jersey Tall Friends
St. Louis Tip Toppers
CONGRATULATIONS!
Volume 29, No. 3
13

14
Connective Issues
When you think of Ben Weisman, NMF Board member and
teen program leader, or Jonathan Martin, NMF Director of
Education, the first thing that comes to mind is, quite obviously,
a beautiful head of hair. In fact, in Ben’s case, the hair
is so beautiful he had no choice but to let it take over his face
as well and become an equally amazing beard. But what’s under
those heads of hair? What mysteries do they cover up? How
ridiculous would they look without it? Now is your chance to
find out while making a difference for the Marfan community.
Here’s the challenge: Children and teens are urged to
raise $15,000 by July 14, 2011, and several lucky teens will
have the chance to shave Jonathan’s head and Ben’s head and
beard at the 2011 annual conference in Portland. The monies
Thank you to the major supporters of the NMF’s 26th
Annual Conference:
Baylor College of Medicine
Dr. Scholl Foundation
The Fondren Foundation
W. L. Gore & Associates
Loeys-Dietz Syndrome Foundation
Medtronic
St. Jude Medical
Fall 2010
Children and Teen Fundraising Challenge
from Ben Weisman and Jonathan Martin
Ben Weisman Jonathan Martin
Chris Heaney
Conference Thanks
Terumo Cardiovascular Systems Corp.
University of Texas Health Science Center at Houston
raised will help the NMF continue to offer its vast array of
programs. And you’ll ensure that Ben and Jonathan will look
ridiculous! Talk about a win-win!
But it gets better: Raise $30,000 and former board member
and volunteer extraordinaire, Chris Heaney, will let you cut off
his hair and beard, and he will donate an additional $15,000
to the NMF’s conference scholarship fund. As a result, this
has the potential to be a $45,000 event! Talk about worth
losing your hair over.
There are lots of ways you can raise funds, and the NMF
is there to help you with fun and creative ideas: penny wars,
bake sales, NMF wrist band sales, Hang-a-Heart Campaign,
garage sales, letter-writing campaigns, recycling drives, and
more.
You can even create your
own FirstGiving page and we
will count it toward the “Ben
and Jonathan Go Bald”
Challenge!
We also want to extend
our gratitude to the NMF
volunteers who helped
make the conference a
great success. A special
thank you to Pam Bryson,
local volunteer chair, and
Kathy Magee, chairof
HeartMart, which raised
close to $4,000 for conference
scholarships.
Contact Cathie Tsuchiya at
ctsuchiya@marfan.org to get
started.
Thank you toConferenceco-hosts,Joseph
Coselli, MD, and Dianna Milewicz,MD, PhD
In addition, we are grateful to our volunteer photographers,
Tim Joyce, ofTimothyD.JoycePhotography,andRick
Guidotti, ofPositiveExposure,forsharingtheirtimeand
expertise with us. Thanks also to Meaghan Joyce, forphotographing
the teen program all weekend.

Revised Diagnostic Criteria
continued from page 1
Hospital, Ghent, Belgium, who spearheaded the panel. “While
diagnostic criteria should emphasize simplicity of use and the
desire for early diagnosis, the highest priority in developing
these guidelines was accuracy.”
The NMF provided leadership and support for the meeting
in Ghent, Belgium, where the experts met to examine the
Marfan syndrome criteria and diagnostic process, and how it
could be improved to enhance patient care.
The revised nosology (diagnostic criteria) provides a method
for evaluating a patient by deriving a systemic score, with
various features of Marfan syndrome assigned a numeric value;
the diagnosis depends on the total systemic score. This is a
change from the previous nosology which relied on evaluation
of features as “major” or “minor.” A web-based diagnostic tool
for the application of the new criteria will be available for
physicians at the NMF website, www.marfan.org, later this
year.
The scoring system reflects three significant changes in
the way Marfan syndrome is diagnosed:
• The two cardinal features of Marfan syndrome—aortic
root dilatation/dissection and ectopia lentis (dislocated
lens of the eye)—are weighted more heavily than other
characteristics.
• There is a more precise role for molecular testing.
• LessspecificmanifestationsofMarfansyndromeareeither
removed or given much less weight in the evaluation
process.
Focusing in on connective tissue disorders: PeterDonato, of Massachusetts,
who hasLoeys-Dietz syndrome, Meaghan Joyce, of New Jersey,whohas
Ehlers-Danlos syndrome(hypermobility type), and Michelle Smith,of Maine,
who hasMarfan syndrome. With the revised diagnostic criteria, they canbe
assured of proper diagnosis and appropriate medicalmanagement.
Connective Issues
If Iorafamilymemberhas aMarfan
syndrome diagnosis, whatdoesthe
revised criteria mean to me?
The revisions to the diagnostic criteria focus on improving
the efficiency of the diagnostic process, assuring accurate
diagnosis, and suggesting follow-up procedures for people
who do not meet diagnostic criteria. Importantly, the diagnostic
criteria largely formalize existing diagnostic philosophies
and practices. We do not anticipate thatthe diagnosis
willchange forthe majority of individuals, and we
anticipate that most diagnostic changes will not alter
management. On this basis,wedonotbelieve that individuals
with an established diagnosis of Marfan syndrome
should schedule an immediate appointment for consideration
of these revisions. Rather, thisshouldbeatopicfor
discussion at the time of the next routine follow-up visit.
Hal Dietz, MD
Johns Hopkins University School of Medicine
NMF Professional Advisory Board
The diagnostic criteria have been defined for those with a family
history of the condition and for those who may be a sporadic
case; that is, they are the first in their family to be affected.
Specific guidelines are also given for children (less than
20 years of age), with different scenarios proposed for those
with family history and those without family history. For
those who do not meet the diagnostic threshold for Marfan
syndrome or a related condition, the nosology employs the
diagnosis of “non-specific connective tissue disorder,” which
fosters ongoing monitoring of the aortic size and function,
until such a time when a specific diagnosis can be made.
The nosology also offers additional diagnostic considerations
and recommends more testing if a patient has sufficient
findings of Marfan syndrome but, additionally, shows other
unexpected features. The differential diagnosis and management
for alternative diagnoses, such as Loeys-Dietz syndrome,
vascular Ehlers Danlos, mitral valve prolapse syndrome, familial
aortic aneurysm and more, are outlined.
“These new diagnostic criteria will be of great benefit to
physicians, particularly those who do not see many cases of
Marfan syndrome, and patients,” said Carolyn Levering, NMF
President and CEO. “It addresses the practical challenges that
diagnosing the condition presents to physicians and, at the
same time, protects patients by balancing the use of diagnostic
categories with a discussion of ongoing risk and the need for
follow-up and management.”
Funding for the development of the revised nosology for
Marfan syndrome was provided by the NMF, March of Dimes,
Merck and Solvay Pharma.
Volume 29, No. 3 15

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Connective Issues
Marfan Syndrome and Related Disorders:
Resources from the NMF
What are the bone and joint problems associated with Marfan
syndrome?
What is the difference between Marfan syndrome and Loeys-
Dietz syndrome?
Why does my child with Marfan syndrome need to see an eye
doctor every year?
Idon’tunderstandallthemedicalinformationmydoctoris
telling me. Can you help?
If you or a family member was recently diagnosed with Marfan
syndrome or a related disorder, or if you are facing new challenges
in your medical journey, the NMF is the first
place to turn for information and
support. The Foundation has a
comprehensive library of publications
and videos to meet your
needs. Some of the most sought
after information for people
with Marfan syndrome and their
families includes:
• Heart of the Matter Fact
Sheets
An easy-to-understand series
covering basics about getting
diagnosed; heart, eye, bone and
joint issues; clinical trial information;
and more.
• Marfan Syndrome A to Z
Avibrant,full-colorpicturebook
that gives explanations and support for
children living with Marfan syndrome.
• Marfan Syndrome: A Guide for Teens
Abookletthathelpsteenslearnaboutlivingwithand
managing Marfan syndrome.
• Marfan Syndrome, sixthedition
Acomprehensiveguidetodiagnosisandmanagementof
Marfan syndrome, including information on each affected
body system.
For specific questions, feel free to contact the Information
Resource Center at 800-8-MARFAN or support@marfan.org.
In addition, you can attend the Foundation’s 27th Annual
Conference in Portland, Oregon, July 14–17, 2011, to hear
the country’s leading Marfan experts discuss the condition
and how it is treated.
Fall 2010
Educating Others
Members frequently contact the NMF wondering what
resources are available to educate other people about Marfan
syndrome and related disorders. Some resources are free to
specific target audiences under funding from various sources,
such as the American Legion Child Welfare Foundation.
Other materials are available for a nominal fee in the NMF
Store at www.marfan.org. (Note: If you have a planned educational
activity, free resources may be available. Be sure to
ask your NMF contact when setting up your event.)
The NMF has developed specific resources to help healthcare
professionals diagnose and manage Marfan syndrome
and/or aortic dissection. These include:
• Emergency Medicine Campaign Kit
• Marfan Syndrome: Needto-Know
Information for
the School Nurse
• Treatment Overviews for
Orthopedics and Cardiology
There are also materials that address
Marfan syndrome features and
diagnosis more broadly and are
intended to help raise public
awareness. These include:
• Heart of the Matter DVD
• Marfan Syndrome At-a-Glance
Bookmark
• Marfan Syndrome and Related
Disorders Brochure
• PublicAwarenessandBasketballPosters
• How Do Your Genes Fit? DVD and Discussion Guide
“The most important thing to remember about selecting
which of our resources is right for your event or activity is
matching the resource to the audience. Some of our materials
are specifically designed to grab interest quickly and provide
averycursoryoverviewofMarfansyndrome,whileothers
are designed to give in-depth medical information for health
professionals. Our staff is here to help you figure out what’s
most effective for your project,” said Jonathan Martin, NMF
Director of Education.
Please visit www.marfan.org to explore all the valuable
resources about Marfan syndrome and related disorders that
are offered by the NMF.

On July 30, sixteen NMF members participated in a Lobby
Day on Capitol Hill in Washington, DC. Four teams made
over 25 congressional visits.
In addition to educating legislators and staff about Marfan
syndrome and the NMF, and sharing personal patient stories,
we promoted the following issues on the Hill:
• $35 billion for the NIH in FY2011 (12% increase)
• NIH support for Marfan syndrome research, particularly
the losartan clinical trial and a proposed study of longterm
surgical outcomes in Marfan syndrome patients
who undergo valve-sparing or valve replacement procedures.
• Legislation allowing rare disease patients to receive compensation
for participation in clinical trials without that
compensation being included in their income calculation
that determines eligibility for Supplemental Social
Security Income and Medicaid.
The NMF also presented Congressman Gary Ackerman (D-NY)
with its 2010 Public Policy Leadership Award. Congressman
Ackerman championed the successful legislative effort to
provide federal funding from the U.S. Centers for Disease
Control and Prevention (CDC) to the NMF in 2010 for a
Marfan syndrome awareness program.
We want to thank the Mid-Atlantic Chapter and others who
ventured to Washington, DC, to support this important effort.
Connective Issues
National Marfan Foundation Visits Capitol Hill
Traveling for Surgery
continued from page 8
• Pack lightly, but pack the things that are most important
to the patient and family members who will be there. If
you’re spending the night in the hospital, follow your
normal daily habits (if you put on make-up every day,
do this even if sleeping in the hospital each night). It
may seem silly now, but it normalizes your life just a bit.
• We left a gift at our house for Henry (on his bed) and
he knew about it, so he could look forward to it upon
his return.
• If you are leaving siblings at home, inform their teachers
about what’s going on so they are aware of the stress in
the family. Set up a support system for the siblings, too,
as they are going to be worried and going through this
without you (for the most part). In addition, schedule
regular calls, e-mails, texts, i-chats, etc. Have them stay
NMF President and CEO Carolyn Levering presented the Foundation’s 2010 Public Policy
Leadership Award toCongressmanGary Ackerman(D-NY).
with people they really love and feel supported by. Ask
some of their favorite people to visit/contact them on a
regular basis.
• Create a system for updating everyone. We used Caringbridge.org,
which helped keep everyone updated and
gave us ongoing support.
Mark Silver, who lives in the Los Angeles area, traveled to
Stanford, in Northern California three times for aortic surgery.
He said, “Going away for a surgery like this actually carries a
built-in element of reassurance. After all, the patient is going
away to a distant hospital specifically because the care, experience
or techniques are better there or more suited to the
patient’s needs. In the case of Stanford, the obvious excellence,
confidence and expertise of everyone on the service helped
to set my mind and nerves at ease.”
Volume 29, No. 3 17

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Connective Issues
Third Heartworks Westchester:ANightof Celebration
The friends and family of Barbara and Jonathan Lerman, of
Chappaqua, NY, continued their momentum this year with
another successful Heartworks Westchester. Their third annual
event, in honor of the Lerman’s seven-year-old daughter Sydney,
was held on May 1 at the Metropolis Country Club, in White
Plains, NY.
More than 200 people attended for a fun night of dinner,
music and fundraising. The event raised $286,000, including
$30,000 on-site during the Fund-a-Need appeal. After only
three years, Heartworks Westchester has raised $727,000.
“Barbara and Jonathan and their amazing committee show
unbelievable enthusiasm and commitment year after year,”
said Jennifer Grignoli, NMF Director of Development. “It is
apleasuretoworkwiththemandsupporttheirefforts,which
benefit the entire Marfan community. We hope to take the
Heartworks event to other cities around the country and look
forward to collaborating with volunteer groups to make this
happen from coast to coast.”
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
SAVE THE DATES
Fall 2010
The Lerman family: Grandmother Judi,fatherJonathan,
daughters Sydney andCarly, motherBarbara, and grandfather Jerry
Inaugural Heartworks
Atlanta
November 18, 2010
Heartworks
New York City
April 7, 2011
Heartworks
St. Louis
February 26, 2011

The Saturday before Thanksgiving, November 20, is National
Family Volunteer Day. Co-sponsored by the Hands On
Network and The Walt Disney Company, this special day
was designated to demonstrate the power of families who
volunteer together to support their favorite cause in the
communities in which they live and serve. The NMF provides
many opportunities for family members to volunteer in
ways that result in significant contributions to the Foundation
mission areas of education, support and research.
Family volunteering is not new to the Marfan community.
From setting up a display at a local health fair to organizing
afundraisingevent—largeorsmall—therearemanyways
that families can participate in volunteer activities to benefit
the NMF.
National Volunteer Network
Join the FamilyVolunteeringMovement:
Participate in Family VolunteerDay, November 20
Chris Sears, of Medford, NY, her father Glenn Stidham, of Nesconset, NY, and
their family, held the 12th Annual JAFGO(Just Another Family Golf Outing)on
July 23, attheMill Pond Golf Club. Theirentirefamily and many friends work
hard onthecommittee all year as atributetoChris’son, Michael, 22, who
has Marfan syndrome. This year’s event was the largest ever, with 124 golfers
and an additional 40 people in attendance for dinner.Itraised$10,500 for
the NMF, bringingthe 12-year totalto nearly $150,000.
The Pawell Family of
Cortlandt Manor, NY,held
the 2nd Annual Jonathan
Pawell Birthday Memorial
Fundraiser on June 19. About
200 people came and
enjoyed carnival-stylegames,
prizes, food and aliveDJ.
They raised $2,700 this year
for theNMF inmemoryof
Jonathan. Pictured at left:
Jonathan’s grandmaGayle,
mom Marisa,dad Todd, sister
Kayla,and brothers
Trevor and Nathan.
Many of our member families have been involved in
fundraising and awareness activities for many years. These
include:
• Campbell Family of Oklahoma, who organized their 5th
Motoring for Marfan Car & Bike Show this year.
• Kelly Berklite and her daughter, Jessica, of Centreville,
VA, who organized a Foster’s Grille restaurant fundraiser.
• Members of the Makanoff Family of Cherry Hill, NJ,
who participated in raising funds and awareness when
RENT came to Philadelphia last year.
• Randy Schwartz and her daughter, Carli, participated in
the Montauk Lighthouse Sprint Triathlon in Montauk, in
honor of Carli’s sister Aryn, who was recently diagnosed
with Loeys-Dietz syndrome.
Volunteering as a family provides quality time for busy families,
strengthens communication and bonds, and positively impacts
our local Marfan and related disorders communities across
the nation. Volunteering together also teaches positive values
to children. Family volunteering that includes the children
creates life-long volunteers and helps generations in the future.
The NMF wouldliketohighlightfamilies who volunteertogether
during the month of November—and during the rest of the year as
well. Please send a photo and a description of your volunteer project
to Kathy Jeffers,NMF Managerof Volunteer Development,at
kjeffers@marfan.org.
Volume 29, No. 3 19

20
National Volunteer Network
Massachusetts Chapter
On May 1, the Massachusetts Chapter held its first Celebration
of Marfan Life and History event, attracting 128 guests
as well as medical staff from Brigham and Women’s Hospital’s
Marfan and Related Connective Disorder Clinic. They were
treated to music composed, created and/or performed by
musicians throughout history who were suspected of having
Marfan syndrome and shown a live performance by cast members
of RENT from the Stoughton Stars Theatre Group. Miss
Tall Boston 2010 also attended and helped sell raffle tickets.
Close to $5,000 was raised for the Massachusetts Chapter.
Northern Illinois Chapter
The Northern Illinois Chapter’s 17th Annual Walk-a-Thon
took place on June 6 at Ty Warner Park in Westmont, IL,
with 158 participants. They all enjoyed a picnic sponsored by
the Paramount Tall Club immediately afterwards. A special
part of the day is releasing balloons in memory of loved ones
as their names are read aloud. This year, several chapter members
created personal fundraising pages through Firstgiving to offer
friends and family an additional way to donate. The Walk
raised close to $10,000, which included $1,700 through
online fundraising.
Visit the NMF website for information on the chapter’s recent
chocolate bar fundraiser and medical education efforts.
Fall 2010
Chapter and Network Group News:
Each OneReach One
Heart ofIowaChapter
On an evening in July, members of the Heart of Iowa Chapter
raised money at Pizza Ranch. They bussed tables, helped people
get drinks, kept the pizza buffet loaded and received all the
tips for the night, which amounted to $182.05. Then they
handled the clean up for the evening—vacuuming, sweeping,
mopping and cleaning bathrooms! They had a great time,
raised money and generated awareness of Marfan syndrome
among the restaurant patrons.
NH/VT Network Group Symposium
On May 8, the New Hampshire/Vermont Network Group
held its First Annual Educational Symposium, “Marfan
Syndrome and Related Disorders: What Every Physician and
Patient Should Know,” at Dartmouth-Hitchcock Medical
Center in Lebanon, NH. Workshops covered topics of interest
to affected individuals and families, physicians, fellows,
physicians in training, physician assistants, nurse practitioners,
nurses, pharmacists and other healthcare professionals.
Northern California Chapter
On May 1, the Northern California Chapter held its Third
Annual Regional Marfan Educational Symposium in Rocklin,
CA, with 54 adults and 12 children and teens in attendance.
There was an impressive line-up of speakers including Dr.
David Liang, Associate Professor and Director of The Stanford
University Center for Marfan Syndrome and Aortic Disorders,
and Dr. Michael Fischbein, Assistant Professor of Cardiothoracic
Surgery at Stanford University Medical Center. Thanks to a
generous donation from the Sacramento Tall Club, the day
ended on a lighter note with a presention by ULaugh. While
the adults were busy in sessions, the youngsters enjoyed a fun
day of supervised activities. In addition to providing a valuable
educational forum, the chapter was able to raise more than
$1,175 through registration fees, donations and door prizes.
Plans for the 4th Annual Symposium on April 30, 2011, are
already underway.
Detroit Network Group
On April 18, the Detroit Network Group met to address the
topics “Coping with Marfan Syndrome” and “Living a Better
Life.” On April 21, six members of the group also participated
in the “Patients as Teachers Program,” which is part of the
first-year medical students’ Clinic Day at Wayne State University.
They shared their Marfan stories with the future doctors
to enhance their understanding of Marfan syndrome.

People &Events
Casino Night
The 6th Annual
Rush for the Gold
Casino and Dance
Evening, organized
by Michele Cripps
of Torrance, CA, was
held on April 24 at
the Moose Lodge in
El Segundo, CA.
More than $8,100
was raised for the NMF as 75 people enjoyed an evening of
good food, music, dancing, games and a silent auction.
Penny Harvest
During the winter, students at Stanley British Primary School
in Denver, CO, under the guidance of their teacher, Aisha
Zawadi, participatedinPennyHarvest,aservice-learningand
youth philanthropy program. After researching several charitable
organizations, they selected the NMF to receive a grant
of $500 from Penny Harvest. The Penny Harvest in Colorado
is administered by the Young Philanthropists Foundation in
coordination with Common Cents New York, Inc.
Students at elementary and middle schools nationwide can get
involved in a Penny Harvest through Common Cents New York
to raise money for the NMF. Log on to www.commoncents.org to
find out how.
Walking for Marfan
The 20th Annual Fred Murray Memory Walk, organized by
Fred’s sister, Sheila Murray,ofErie,PA,tookplaceonMarch28.
This year, they raised $600 for the NMF’s Emergency Medicine
Campaign. This annual gathering of family and friends has
raised close to $9,500 for the NMF since its inception.
Campus Fundraising
The Alpha-Chi Chapter of Tau Kappa Epsilon at the University
of Louisville chose the NMF as their ongoing chapter
philanthropy after one of their members, Jim Hinds, passed
away several years ago due to Marfan syndrome. This year,
their TKE Philanthropy Day included a charity softball
game at which they set up a table to collect donations and
sell t-shirts to benefit Marfan research. They raised $1,360
in Jim’s memory.
The Epsilon Omega Chapter of Kappa Kappa Gamma
at Dickinson College in Carlisle, PA, held its annual flag
football game to benefit the NMF and raised $392.
Car Show
National Volunteer Network
I’m so happy that I could do something to help the NMF after all the incredible help you have given us.
It feels good to take action when I feel that I'm not in control of my daughter’s medical situation.
– Alix McLean Jennings, whoranahalf-marathoninNewYorkCityinhonorofdaughter
Cassie and raised more than $32,000 through her Firstgiving page.
HOLIDAY 2010IDEA
As the December holidays approach, here’s an idea to consider
from Jeff Hoberman, of Montclair, NJ. Last year,whensending
out a holiday email to friends and family, he reminded them that
he has Marfan syndrome and pointed out the need for research
dollars for the NMF. He asked them to consider making an end-ofyear
donation to the NMF. As a result, he raised $293.
The 2nd Annual Eric Wika Memorial Car Show took place on
May 16 at the Fruit Yard in Modesto, CA. The show, which
was open to cars of all makes, models and years, was enjoyed
by car enthusiasts of all ages. They raised $2,266 for the
NMF in Eric’s memory.
More NVN Events on
NMF Website
Visit www.marfan.org to read about:
• Skating and service at St. Paul’s School in Concord, NH
• Casual days at work in Los Angeles, Cleveland and
New Jersey
• Fundraising for entrepreneurshipinPortWashington,NY
• School awarenessprojects byDanielSpeck, in
Maryland, and Dominga Noe, in California
• Hang-a-Heart effortsby Nancy Freeman(GA), Pam
Napier (WV) and Rebecca Shieh (CA)
• Online fundraising coordinated by Justin Waterman,
of Oquawka, IL, while deployed inIraq
• Kyle Moran Memorial Triathlon in San Diego
• Patricia Moran NMF Fourth of July 5K in Orlando
• Tall Club eventsthat supportedtheNMF
More online at
www.marfan.org
Volume 29, No. 3 21

22
Connective Issues
How CanISupporttheNational Marfan Foundation?
Financial support from the Marfan syndrome and related disorders community is vital and ensures that the NMF can continue to
enhance its education, support and research programs. Your gift, large or small, makes a huge difference. Understanding that each
donor prefers to make their contribution personal, there are several ways you can support the NMF.
1. Annual Membership Campaign
The Annual Membership Campaign is one of the NMF’s
primary sources of funding each year. We need the vital support
of our members to continue to provide valuable services,
resources and education for families and individuals living
with Marfan syndrome and related disorders, medical professionals
and the general public. Active members can enjoy
discounts on Annual Conference registration, a print subscription
to Connective Issues, up-to-dateinformationthrough
the NMF E-Mail Network, and personalized connections
with other affected individuals and families arranged by the
Information Resource Center. If you haven’t renewed your
2010-2011 membership, please be sure to do so right away.
An Individual Membership is $35 per year and a Family
Membership is $50 per year. To become a member for the
first time or to renew your membership, please visit the
NMF website today. Show that your support counts!
2. Annual Research Drive
Since the Research Drive began in 1989, we have seen firsthand
the realities of new drug therapies that are lengthening
the lives and enhancing the quality of life for people in the
Marfan syndrome and related disorders community. Innovative
research programs have been funded by this crucial campaign
and remain our greatest hope in reaching our ultimate goal—
finding a cure. Your donation to this year’s research drive will
ensure the NMF can continue to initiate and foster critical
research.
3. Have Heart Campaign
February is National Marfan Awareness Month and each year
we celebrate by raising awareness through the Have Heart
Campaign. Each and every donation helps support and expand
the NMF’s vital programs.
4. Hang-a-Heart Campaign
Do you have a favorite store,
hairdresser, bank, pizza shop,
deli or restaurant? How about
your workplace or doctor’s office?
Do you work in a school or have
kids in school? All of these are
great places to hang NMF hearts
and help raise awareness about Marfan
syndrome!
Fall 2010
Roses Are Red
Violets Are Blue
IGavetotheNMF
to Show My
Love Is True!
Anna Conda
www.marfan.org
To make adonationor for moreinformationaboutplanning your
own fundraiser, please visit the NMF’s website at www.marfan.org
and click on “Donate” or “Get Involved.” You canalso contact
Cathie Tsuchiya, ctsuchiya@marfan.org or 800-862-7326, ext. 13.
Remember that you have until December 31 to make a taxdeductible
donation to the NMF for the year 2010. Please encourage
yourfriends and family todothesame!
5. Have Heart Challenge
Step up to the Challenge! Thanks to a generous sponsorship
from Neuco, Inc., and the Neustadt family of Naperville, IL,
funds raised through the Have Heart Challenge will be matched,
dollar-for-dollar, by Neuco, Inc., up to $10,000. So reach out
to your friends, family and co-workers to donate, and double
the funds you help to raise!
6. Firstgiving—Create your own Fundraising Page!
Maybe you have always wanted to plan a fundraiser for the
NMF but just didn’t think you had the time. Here is a quick,
easy and fun way to encourage your friends and family to
donate—create your own personal fundraising page through
Firstgiving! You can personalize your page with your photos,
videos and messages and Firstgiving will track every donation
you receive on its secure site, helping you reach your
fundraising goals!
7. Workplace Giving
Does your employer offer workplace giving? Many companies
encourage employees to donate money to the charity of their
choice through programs that they sponsor. Workplace campaigns
that are typically offered are: Health First-America’s
Charities, United Way or a Corporate Matching Gift Program.
If you are unsure if your company offers these programs, ask
today.
8. Holiday Giving
The holidays are a time for giving! This coming holiday season,
instead of store-bought gifts, ask your family, friends and
colleagues to make a donation to the NMF. These are the gifts
that keep on giving throughout the year, supporting the NMF’s
life-saving mission of research, education and support for
individuals and families affected by Marfan syndrome or
related disorders. Their support will mean so much to the
thousands we serve!

Connective Issues
Mimnagh, Zimmerman Named to NMF Boardof Directors
Kathleen Mimnagh, MD, of Charleston, WV, and Maya
Brown-Zimmerman, of Milpitas, CA, have been named to
the NMF Board of Directors. They began serving their
three-year term on July 1.
Kathleen was in medical school when she recognized
that she herself had Marfan syndrome. She found that she
had a long family history of the condition and now has two
daughters who are affected as well. Kathleen previously served
on the board from 2001-2009 and has served on the Research
Committee since 2000. She has also participated in high
profile media coverage, including a segment broadcast on the
Discovery Channel that has helped generate extensive awareness
about Marfan syndrome. As an internist with Marfan
syndrome, she combines her professional knowledge with
her personal experience to bring an important perspective to
the Board of Directors.
Maya Brown-Zimmerman is the first in her family to be
affected by Marfan syndrome. Now 25, she has been involved
with the NMF since she was a pre-teen, holding local fundraising
and awareness events. Through college at Case Western
Reserve University in Cleveland, she remained committed to
the NMF, starting an annual fundraiser for the NMF through
her service fraternity that continues to this day. Maya grew up
in the teen program at the NMF’s Annual Conference and is
now a teen leader and excellent role model. Currently active
in the NMF’s Northern California Chapter, Maya is also
involved extensively in the Foundation’s online communities.
For the past year, Maya has served on the NMF’s Support &
Volunteer Development Committee and now chairs the
We Remember and Honor ...
The National Marfan Foundation is grateful to its 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 mission to save lives and enhance the
lives of those affected by Marfan syndrome and related connective tissue disorders.
In Memory of:
Adrian Adame
Carol Adame
Elias Adame
Tom Albach
Nancy Avis
McKenzie Bailey
David Patrick Barry
Esther Barton
Robert ArthurBerst
Ben Bowling
Gloria Brett
Saul Bruckner
George H.Butler
Jerry L.Butler
Carol J.Camp
James Carrier
William P. Cavanaugh, Jr.
Evelyn Ciccarello
Tonya JoCochran
John J. Coffey, III
Nancy Delava
Peter DeMattia
Angelina YvonneDolge
Murray Elman
Vince Farmer
Chris Gilmore
Greg Gilmore
Rachel Yael Goodman
Ima Lee Heier
Bert W.Humphries,Jr.
Robert M.Hutchinson
Barbara Harden Johnson
John J. Johnson
Robert J.Johnson,Sr.
David R. Jones
Terry P.Judd
David B.Knapp
Patrick Joseph Kremer
Julie Kurnitz
Wallace Lepkin
Mildred Levandusky
Dow Lewis
Joseph Mazzuca
Bernard F.McLaughlin
Joseph Meditz
Gretchen Meeker
Richard Mikuls
Terry Newlin
Stephen Parfenoff
Christopher Paulsen
Billy Phillips
Houston Rains
Seated (L-R): Barbara Heller, Mary Roman,MD, Maya Brown-Zimmerman,
Ray Chevallier;Standing (L-R): Jerry Lerman,BenWeisman, TeriDean,
Karen Murray,Jon Tullis, Kathleen Mimnagh, MD
Education & Awareness Committee. She also serves on the
Fundraising & Development Committee.
“Kathleen and Maya will be valuable members of the
NMF Board of Directors,” said Jon Tullis, Chair of the NMF
Board of Directors. “They are both extremely dedicated to
the NMF and have already used their vision and expertise to
help us advance the mission. I am looking forward to working
with them during their Board service.”
Jim Sidorchuk, who has served as treasurer on the NMF
Board’s executive committee, rolled off the Board of Directors
this summer. The NMF is very grateful for his many years of
service.
Nita Reppenhagen
Gladys Richter
Henry Ricco
William H. Ruch
Margaret Rustad
Spencer Sellas
Ava Sipperley
Toxey Smith
Brian Steinke
Bridget Stewart
Andrew James Swan
Steven Tokos
Gertrude Wiedemann
Howard Winkler
Shirley Zamore
In Honor of:
Mr. &Mrs.David Addis
Michelle Brown
Dylan Cho
Louise Chudnofsky
Heidi Connelly, MD
David Cooke
Jason Decker
Peter Donato
Barbara Doster &Family
Velda Gauze
Mr. &Mrs.Gerald Gerson
Heather Gooch
Alex Henkel
Daniel H. Keyes
Sue Leon
Derek Lowe
Joan Macpherson
Diane Mannix
Cathy MarieLewis Mudre
Janine Lock&LeeMunro
Sue Nelson, RN
Bill O’Quinn
Jerry Peterson
Chris Raymond
Kelly Raymond
Jim Record
Michael ScottRoberson
Noah Tyler Ross
Andy Shaw
Colin Shields
Thor Sundt, MD
Volume 29, No. 3 23

22 Manhasset Avenue
Port Washington, NY 11050
Non Profit Org.
U.S. Postage
PAID
RIPON, WI
PERMIT No.100
MARK YOURCALENDAR!
Join us for the 27th Annual Conference on Marfan Syndrome and
Related Disorders, July 14–17, 2011, in Portland, OR. The conference is
being co-hosted by Shriners Hospital for Children and the Oregon Health
&SciencesUniversity and willfeature patientassessments, extensive
educational programs and special programs for children and teens.
Teens learn andhave fun at NMF conferences.