International Federation of Marfan Syndrome Organizations (IFMSO)
E-Newsletter. (Vol 7, Number 3, September, 2012)
http://www.marfanworld.org

Table of Contents

This year we celebrate the IFMSO’s 20th Anniversary, 1992 - 2012
President’s Report
Report from Carolyn Levering (and Jo Grima)
News and Comments from Readers
Priscilla’s Epilogue

The IFMSO is now 20 years old!!
We have grown up over these 20 years and grown to 22 different Marfan organizations.

 

President’s Report

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 interaction.

In our last issue we provided a glimpse, with samples, of all the interesting, colorful and informational IFMSO world-wide organization’s 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?

Priscilla Ciccariello

National Marfan Foundation Report

Priscilla Ciccariello 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 (cilla71@aol.com) and jgrima@marfan.org 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 and Meetings

National 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 to attend.

Canada
2013 CMA Conference – Vancouver, BC


SAVE THE DATE! We are proud to announce the CMA’s 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 world’s leading specialists in Marfan syndrome, hereditary aortic aneurysms and dissections, Loeys-Dietz syndrome, and related disorders.

Italy Meeting - Coming up in October -

Sindrome Di Marfan

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 a congressomarfan@gmail.com


E-mails and Communications:

Bangladesh

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.

Ireland

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: info@marfan.ie. 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 haven’t been able to translate the communications, but there are many entries. There is also a Marfan_Logo.jpg entered. I didn’t 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.

United States

Check Out the all New Teen Space on the National Marfan Foundation (NMF) web site.
www.marfan.org

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!

Teen Space
The place for teens living with Marfan syndrome and related disorders.
Get connected today at: http://marfan.org/teenspace/



My IFMSO Epilogue – Priscilla Ciccariello


Priscilla Ciccariello
IFMSO President and Editor
of IFMSO E-News


Sitting in my local coffee shop – early a.m. - reflecting and remembering:

In 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 director’s 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 as“NMF 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 Carolyn’s 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 Dietz’s 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,


Priscilla Cicariello
Editor/IFMSO

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: cilla71@aol.com or Peter Ciccariello , webmaster.


IFMSO
C/O National Marfan Foundation
22 Manhassett Avenue, Port Washington, NY 11050
http://www.marfanworld.org

Contact Information

President: Priscilla Ciccariello

Vice Presidents:
Wenche Snekkevik, (Norway),
Justin Nix, (Australia),
Yoko Shimozaki, (Japan)
Pernille Mai Strauss Warren, (Denmark)

Treasurer: Cheryl Williams, United States

Webmaster: Peter Ciccariello