Federation of Marfan Syndrome Organizations (IFMSO)
E-Newsletter. (Vol 7, Number 3, September, 2012)
This year we celebrate the IFMSOs 20th Anniversary,
1992 - 2012
Report from Carolyn Levering (and Jo Grima)
News and Comments from Readers
IFMSO is now 20 years old!!
We have grown up over these 20 years and grown to 22 different Marfan
This September issue of IFMSO provides me with the opportunity to celebrate
the 20th anniversary of the International Federation of Marfan Syndrome
Organizations (IFMSO)! I well remember the symposium when a number of
people from the patient advocacy community gathered to combine
our weight to work in support of Marfan research.
It was in 1992, in San Francisco, California, U.S.A., at the Hotel Nikko
that the National Marfan Foundation shared the role of sponsor of the
2nd International symposium. Dr. Reed Pyeritz had organized the first
International Research Symposium at Johns Hopkins, during which Dr.
Victor McKusick was honored for his groundbreaking work on heritable
disorders of connective tissue. The National Marfan Foundation was invited
to attend this first International Marfan Research Symposium.
It was at the 2nd International Marfan Research Symposium, sponsored
by the National Marfan Foundation when a number of newly formed Marfan
Voluntary Organizations were invited to attend, which included 6 countries,
included the host country, the United States, (National Marfan Foundation).
Included in this group were: Yvonne Flemal-Jousten, Belgium (Association
Belge du Syndrome de Marfan); Geraldine Duran and Maria Luisa Duran,
Mexico (Sindrome de Mexico, A.C.); Aeneas Lanc, (Canada Marfan Association);
Devin Gill, Germany, (Marfan Hilfe (Deutschland) e. V.), and Diane and
Robin Rust, United Kingdom, (Marfan Association UK).
The attending organizations agreed to form the International Federation
of Marfan Syndrome Organizations (IFMSO) and at the time the IFMSO name
was decided on, the Mission statement, and bylaws. The adopted mission
of the IFMSO is to: (1) share current, accurate information about the
Marfan syndrome worldwide and (2) facilitate international communication
among medical professionals and the general public; (3) establish standards
for diagnosis and treatment of the Marfan syndrome; and (4) support
and foster research throughout the world and facilitate communication
with research centers and researchers worldwide. Communication would
be fostered by internet and e-mail. The different countries would make
information available in their own languages, sharing research and organizational
information. In 2003 the IFMSO undertook to begin an IFMSO E-Newsletter
to provide an additional forum for communication and information. Each
issue of the newsletter printed 3 times a year features
news of a single country and provides a snapshot of their Marfan activities
and publications. As the years have passed web sites have flourished
and add an important dimension.
It is now 20 years later, and after careful thought, due to health
issues I must announce the need to begin transitioning off as President.
It is my hope that a new president will be elected at the next IFMSO
meeting. There will be two opportunities for the gathering of the international
community in 2014. One at the NMF Annual Conference in August 2014 in
Baltimore, MD, which will be providing for international guests to be
full participants in the clinic and conference as it did in 2002 or
at the 9th International Symposium on Marfan Syndrome and Related Disorders
proposed to take place in Europe in the fall of 2014. An in-person IFMSO
meeting at the conference or symposium will be an important opportunity
to recommit and strengthen the IFMSO mission and to elect a new president
and vice president. Over the next two years as the outgoing president
I will remain as a committed advocate and advisor but need practical
assistance in executing my IFMSO responsibilities. The NMF has generously
agreed to my request for them to provide a home for a new and updated
website for IFMSO and to assist in other efforts to bolstering global
In our last issue we provided a glimpse, with samples, of all the interesting,
colorful and informational IFMSO world-wide organizations web
sites which featured their Marfan information in their specific
languages. I come from the olden days, when you have to write to someone
and perhaps you received an answer and perhaps not. I find this web
site the major benefit of google and of the value of voluntary, patient,
organizations. A miracle of instant information delivery this
between 38 different countries in their different languages. Where else
but on the IFMSO site would you have access to current medical and diagnostic
information on the Marfan syndrome in almost any language in the world?
Marfan Foundation Report
has been the international voice of IFMSO for many years. Although she
will begin transitioning to stepped down responsibilities as official
IFMSO president, her passion, advice and counsel will continue to serve
us all in the years to come. The NMF is honored and willing to step
up on her behalf and help in whatever way we can to coordinate the activities
she started on behalf of the international community. We are pleased
to provide a home for the IFMSO website, and look forward to input from
all of you to make this the best interactive global rare disease community.
Together, with Priscilla, let us focus on advancing our joint mission
with ever increasing energy and effectiveness. This is a website of
the entire international community so input from everyone is vital.
Please continue to send your information and ideas to Priscilla (firstname.lastname@example.org)
and email@example.com and we will help coordinate the thoughts and concepts
of the international community.
The NMF is pleased
to invite all IFMSO leaders, family and friends to attend our 2014 Annual
Conference in Baltimore, Maryland, US, where Johns Hopkins will be co-host.
It will be held on July 10-13, 2014. As many of you know, the NMF has
a 2.5 day annual patient and family conference with specific programming
for young children ages 5-12, teens ages 13-19, young adults and adults.
Expert physicians and scientists are readily available at the NMF conference
and provide presentations during a general medical session and then
conference participants have the opportunity to choose several of the
50 workshops geared either to medical information on Saturday afternoon
or patient oriented topics on Sunday. This year, the NMF conference
had the largest turnout ever with over 200 children and teens and over
400 adult participants. We look forward to a fantastic international
conference and we hope that everyone will make an effort to attend.
The NMF has also
been busy in the global research front by sponsoring two meetings in
the US and in Europe for the lead investigators of the 11 global clinical
trials to develop methods to collectively analyze the results of the
2450 patients enrolled in these trials. We are very appreciative of
the collaboration efforts from all the countries and their willingness
to participate. We are also thankful for the scientific team that is
leading this effort at Oxford University. It enables the Marfan community
to utilize all the data from the numerous trials to investigate different
questions which could not be answered by just one trial. We are very
fortunate to have a group of great scientists willing to share their
data and work together.
The 9th International
Symposium on Marfan Syndrome and Related Disorders is currently being
organized. It is expected to take place in the fall of 2014 in Europe.
More details will be coming soon.
We want to thank
all the IFMSO groups for their cooperation during this time of transition
and we will want to hear from all of you on your ideas to move forward.
Carolyn Levering, NMF President and CEO and Dr. Josephine Grima, Vice
President of Research.
News of Upcoming Conferences
Organizations of Rare Diseases (NORD), upcoming meeting. Register October
1st for Early Bird Rates.
U.S. Conference on Rare Diseases and Orphan Products to be held October,
2012. Join Patient advocates, drug and device industry leaders, researchers,
government partners and investors at this major conference, the 2nd
Annual DIA-NORD U.S. Conference on Rare Diseases & Orphan Products:
Shaping the Future Now will take place on October 22-24
in Washington, D.C. This meeting is a gathering of all key stakeholders
working towards common goals related to the rare disease community.
As in 2011, representatives from federal agencies, the biotech/pharma
industry, physicians/researchers, and patient organizations are expected
CMA Conference Vancouver, BC
SAVE THE DATE! We are proud to announce the CMAs 2013 Continuing
Medical Education and Patient Conferences will be held in Vancouver,
British Columbia on August 30 and 31, 2013.
This Western Canada conference will host children and teen programs
and plenty of specialized, small group workshops to answer your questions
by the worlds leading specialists in Marfan syndrome, hereditary
aortic aneurysms and dissections, Loeys-Dietz syndrome, and related
Italy Meeting - Coming up in
6 ottobre ci sara'
il congresso in Pavia...
Sindrome Di Marfan posted in LDS
Sindrome Di Marfan
IL 6 ottobre ci sara' il congresso in Pavia relativo alla sindrome di
Marfan e le malattie correlate. Vi saranno i "Padri" di questa
malattia direttamente dall' america. X i primi 100 il pernotto è
gratuito. AFFRETTATEVI. X info: 0382501206 oppure dal sito di magica
onLus. Ancora meglio, per info chiamate: 0382501487 (cecilia) o scrivete
E-mails and Communications:
IFMSO Heard from Nazmul Hossain from Bangladesh, looking for information
regarding medical care in his country. Particularly regarding ophthalmology
and Marfan syndrome. He will be graduating from Dhaka University and
would like advice. The National Marfan Foundation has been in touch.
IFMSO also heard from Rachel in Ireland. She had notified us that they
have a new contact address in Ireland Marfan Syndrome Support
Group, Carmichael House, North Brunswick Street, Dublin 7 Ireland. Web:
www.marfan.ie; Email: firstname.lastname@example.org.
Sorry to be late getting on the IFMSO home page web site. Thank you,
Rachel, for your help in adding this information to the IFMSO. Everyone
- check out their new website.
Portugal (on Facebook)
We have been seeing a lot of communications on the Facebook site for
Sindrome de Marfan em Portugal. These are in Portuguese, and I havent
been able to translate the communications, but there are many entries.
There is also a Marfan_Logo.jpg entered. I didnt check it out,
but will later. Let us know if you have a contact for this group and
we will add it to the IFMSO web site.
Check Out the all New Teen Space on the National Marfan Foundation (NMF)
Get to know Elias
Turner, author of the NMF distributed children's book Marfan Does Not
Mean Martian and 2012 NMF Rising Star Award recipient, in the Teen Spotlight.
Ask a question or answer a question in the Social Q + A.
Watch videos of teen Marfs singing, playing guitar, acting and more
or check out poems, artwork and photos in Teen Talent.
Get answers to your medical questions in the Medical Q + A.
Watch current and former NMF Teen Council members talking about living
with Marfan syndrome and related disorders and answering some of the
most common questions asked by teens in The Marfan Question video Q
+ A series.
Find out where to get clothes that fit in Fashion-Marfan Style.
Join NMFConnect, the NMF's own online community (Blog. Post a question
or comment to the forum. Join the online teen support group. Live "chat"
and more.), and connect with other teens just like you!
The place for teens living with Marfan syndrome and related disorders.
Get connected today at: http://marfan.org/teenspace/
My IFMSO Epilogue Priscilla
IFMSO President and Editor
of IFMSO E-News
in my local coffee shop early a.m. - reflecting and remembering:
1993, I met Carolyn
Levering for the first time. She met with me in the library in Port
Washington, (NY, U.S.A.), where I worked, in order to discuss the NMF
directors position that I was vacating due to retirement from
the library and my move farther out in Long Island. I had held this
NMF position since 1984, when Faith Clark, (NMF founding President)
mailed me two boxes of NMF records in my role asNMF Chair.At
the time, 1984, there was $10,000 in the bank. Since I was a volunteer
that was no problem, but how to write a newsletter, send mailings? My
son, Peter Ciccariello, artist and graphics designer, worked with Dr.
Reed Pyeritz, laying out and printing the manuscript, The Marfan Syndrome,
(known as the Blue Book). This first printing, this in 1984, was the
very first comprehensive information on Marfan syndrome for the layperson,
provideded the NMF with knowledgeable information to distribute! Peter
also designed and printed the newsletter, Connective Issues, and worked
on it for many more years. It was a labor of love for both of us. Since
I could no longer work locally in the NMF office, Carolyn was the answer
to my prayers and just the person needed to be director of the NMF.
Now, some 20 years later, Carolyn has translated the organization from
that small organization to the amazing worldwide genetic institution
and research center that it is today.
It was several years after Carolyns appointment as NMF Director
that Josephine Grima was selected as NMF Director of Research: another
key move. How fortunate for the NMF to find someone both experienced
in the research field and adept at working with the research community.
She has led the NMF successfully through clinical trials, surgical studies,
and several International Research symposia just to name a few
of her research leadership accomplishments. .
I have been privileged to be both a participant and an audience to these
remarkable advances - which brings me to the researchers who initiated
this research. The participants of the NMF Professional Advisory Board
and the NMF Scientific Advisory Board reflect the prestigious members
who have been the leaders in the field of Marfan syndrome and heritable
disorders of connective tissue research. The research community played,
and continues to play, a vital role in moving medical and surgical advances
forward. I often look back and marvel at the difference between the
dismal medical prospects faced by a person with Marfan syndrome some
30 years ago, and the options which exist today. I always think of the
benefits to those directly affected with Marfan those who live
each day with this condition and struggle with the physical complications
and resultant social/economic costs. I will always remember and be grateful
to those in the medical research field whom I met in the early days,
and are still active - Reed Pyeritz, (my son, John, participated in
his first Marfan clinical study at Johns Hopkins in the 1970s); Peter
Byers, (Washington University, Seattle) whose questions at the meetings
triggered thoughtful challenges. Also, one to whom I will always owe
so much, Lynn Sakai, (Crippled Children, Portland, OR), who gave so
freely of her knowledge and advice, this, when the NMF was just beginning
to reach out to the research community. The finding of the Marfan gene
and identification of fibrillin appeared in the groundbreaking articles
in 1991, contributed by Lynn Sakai and Hal Dietz, and which led to a
deeper understanding of the genetic world. And Checco Ramirez
with his early mouse model which rivaled Hal Dietzs short-lived
pig. An hilarious story when told by Hal.
The National Marfan Foundation (NMF) has provided a home for my family
and all of us and continues to do this, expanding services and communities
to those who have a condition which affects all body systems, as Reed
Pyeritz would say, connective tissue the glue that holds
the body together.
Marfan organizations started to spring up throughout the world responding
to the immense medical needs of those affected and the newly revised
diagnostic nosology. I remember meeting with Diana and Robin Rust, (Marfan
Association UK), in my home in Port Washington back in 1984, when we
discussed the importance of world Marfan organizations, and the importance
of sharing and promoting the issues. I remember a day in the first NMF
one room office, in Port Washington, when a Swiss airline pilot
Gerhardt Zumstein visited, asking for information about Marfan
syndrome, since he had just learned that his son needed surgery. He
dedicated many years of his life to the founding of the Marfan Stiftung
Schweiz, as well as the first Patient and Research symposium held at
Davos in 1996. He worked tirelessly to encourage other European organizations,
and to initiate increased interest in Marfan research.
And yes, the European Marfan Support Network, (EMSN), this amazing organization
which was formed in 1991 and which reached out to some 12 countries,
providing translations of Marfan information and materials into their
own languages, and providing annual meetings, a vibrant young people
group, and web sites in their languages with information to peoples
throughout the world. Their motto is Together we can.
It was out of this background that the IFMSO was founded in 1992 in
San Francisco, CA., U.S. The IFMSO served as an international organization
and was the fulfillment of the dream to bring together all peoples affected
with some version of this genetic disorder. This was a watershed period
in the world of Marfan, an acknowledgement of the true impact of these
heritable disorders of connective tissue on people throughout the world.
In my personal life, it was Charley my husband - who made this
effort important. He lived with this unknown disorder throughout his
life which he faced with great dignity and courage. His memory
lives on in the lives of our children and grandchildren - lives affected
with Marfan and yet which have been extended by many years through the
research that he envisioned and encouraged. Back in 1983, at one of
our meetings, an unaffected son, Mike, said to me when we were alone,
Mom, sounds silly, but I always wished that I had Marfan syndrome
- painfully demonstrating to me the true impact of genetic disorders
on each person in the family. We all pay a price, but we all share in
the ultimate benefits.
I look forward with deep gratitude to the NMF for offering their support
in promoting the IFMSO and its continued outreach through the world,
with much love to all,
Please contact the Editor: Priscilla Ciccariello if you have any questions
regarding the IFMSO E-Newsletter, or if you wish to contribute to the
articles and news page. E-mail me at: email@example.com or Peter Ciccariello
President: Priscilla Ciccariello
Wenche Snekkevik, (Norway),
Justin Nix, (Australia),
Yoko Shimozaki, (Japan)
Pernille Mai Strauss Warren, (Denmark)
Treasurer: Cheryl Williams,
Webmaster: Peter Ciccariello