Dear Friends,

I must say, it is difficult to keep track of the volumes and numbers of the IFMSO E-Newsletter issues as they keep coming - the years, I mean. We have now launched our third year of the E-Newsletter - the third volume and the first issue for 2008. Over the past three years we have featured Marfan organizations of eight different countries - Norway, Mexico, Spain, Poland, South Africa, Japan, and three organizations in Australia. We have featured the Annual Meetings of the European Network which in itself consists of over 12 European countries and members of the IFMSO. The newsletter has served as a communications opportunity to share information, activities, and concerns of Marfan organizations throughout the world.

This issue includes a financial statement demonstrating the modest costs of this Internet miracle of communication and information sharing. Also included is a table of dues payments of the IFMSO member organizations and contacts, and I hope you will review it for corrections, if any. Added to this is a "layman's" financial statement. Since our budget is modest, so is the statement: Dues Income, Expenses, and Balance. Thanks to the National Marfan Foundation (NMF) for covering the web site costs and for allowing us to use the NMF banking system for payment of dues. Any questions should be addressed to me, cilla71@aol.com

This issue spotlights the Marfan Stifung Schweiz (MSS) - the Swiss Marfan Association. The MSS is one of the founding members of the International Federation of Marfan Syndrome Organizations, and it was through this organization that I first met Gerhardt Zumstein. He and his wife, Sylvia, began this organization following the death of their youngest son and it has grown over the years to the important organization it is today.

The Marfan Foundation Switzerland (MSS), founded in 1987, celebrated its 20th anniversary on 22 September 2007 in Bern, Switzerland.

What birthday card could have been more appropriate than the one from the EMSN (European Marfan Support Network) with the Matterhorn standing tall and proud? The resemblance to many Marfan people is quite striking.

The Jubilee Celebration took place at the Centre Paul Klee, who was a famous painter (1879-1940), following the annual Marfan Meeting. It was attended by over one hundred people affected by the Marfan syndrome (MFS) or an overlapping disorder, either personally or as a close relative, by members of the MSS board and staff, Marfan specialists and family doctors, and delegates of the EMSN Meeting, which also took place in Bern that weekend.

It was an occasion to look back with pride on what has been achieved in Switzerland, to reflect on the tremendous scientific progress during that period, and a time to think about what the future may hold.

A look back on 20 years of the MSS:
The MSS, with its first seat in Langenthal, was founded in 1987 by Sylvia Weiss und Gerhard Zumstein, after they lost their 15 year-old son following a dissection of the aorta. Despite his obvious symptoms and the many problems he suffered in daily life, he was only diagnosed with MFS a few months previously.

Their tragic loss was the motivation behind them wanting to help prevent other people suffering the same as they had. This they achieved by providing information through documentation, media work, Marfan meetings and, at a later date, a website. In the beginning they made such an impact that the local media commented that Marfan-hysteria had broken out in their region. They established contacts with medical experts resulting in the first medical round table discussion in 1992.

It quickly became clear that international contacts and support were very important, which lead to Gerhard and Sylvia being involved in the founding of the EMSN (1991) and the IFMSO (1992). They regularly attended Marfan meetings and symposia in their quest to learn all there was to know about Marfan syndrome.

A milestone was the 4th International Symposium on the Marfan Syndrome held in Davos in 1996, exactly 100 years after Dr. Marfan described the syndrome for the first time. This memorable scientific symposium was initiated and co-organised by the MSS, where, for the first time, patients could attend. The objective was for doctors and patients to join together in their efforts to improve the lives of affected people.

In 2002, after fifteen years of running the now very reputable Foundation and after counselling many people with Marfan syndrome over the years, Sylvia and Gerhard took a back seat and eventually had to step down from actively running the organisation due to Sylvia's ill health. A group of affected people who had supported the Foundation took on the various tasks at fairly short notice. In June that year, a professional office manager was appointed, and in 2003 the move of the office to Bern, which gave better access to the relevant health and government organisations, signalled a new era. A part-time social counsellor was employed to answer enquiries and phone calls for help from people and families affected by MFS. With Mrs Angie Hagmann taking up the position of president of the MSS in 2003, the reorganisation came to a completion. In 2006 the newly designed and updated website went online.
Gerhard Zumstein, who had stayed on as a member of the board, decided it was time for him to leave the organisation for good and turn his hand to other things. Therefore, in January 2008, following his last board meeting, he was given special thanks for the tremendous energy and enthusiasm he had put into the MSS. Although he wished no fuss to be made over his departure, the MSS would nevertheless like to take this opportunity to express their deep gratitude, and undoubtedly that of the Marfan community worldwide, for his enduring commitment to their cause.

Until 2002 the MSS was entirely funded by sponsorship and private donations, but since the introduction of new governmental regulations which recognise the contributions to health care by patient organisations, the MSS now benefits from regular government funding for about half of its yearly budget.

Mission of the MSS today
First some information on Switzerland, its health insurance system and medical care for MFS patients to enable a better understanding of the working of the MSS.

Switzerland is a small country of 7.5 million people which covers an area of 41,285 km² in the heart of Western Europe. It is a federal republic consisting of 26 states called cantons, and Bern is the seat of the federal government. Switzerland is multilingual and has four national languages: German, French, Italian and Romansh.
There are about 750 people (1:10'000) affected by Marfan syndrome living in Switzerland.

Swiss health insurance system:
The compulsory basic health insurance coverage ensures that every person living in Switzerland has access to good comprehensive medical care and treatment in their canton of residence. However, it is possible to get specialist treatment outside the canton of residence. People are free to choose their insurer. Roughly 90 health insurance funds are recognised by the Federal Office of Public Health and are authorised to provide compulsory health insurance. Insurers are obliged to insure all persons unconditionally, regardless of age, state of health and without a waiting period. In addition, there is the compulsory Invalidity Insurance aimed at ensuring basic subsistence through rehabilitation measures or financial benefits if a person is, or becomes, incapable of working. Marfan syndrome is recognised as a disorder that can cause disability.

Medical care for MFS patients:
Due to the relatively small number of affected people and the health insurance system, interdisciplinary Marfan clinics are unlikely to become a reality. However, there is a network of Marfan specialists who provide good care and treatment. The universities of Bern and Zürich have become specialised in cardiac surgery for Marfan patients. The universities of Geneva and Zürich offer genetic counselling, and the latter has performed molecular genetic testing since 1998.

From the beginning, the aim of the MSS was to team up affected people and their relatives with scientists and doctors and any other specialists in order to help and support affected people. This is reflected in the composition of the MSS board where there are currently affected people, three doctors, a communication specialist and a lawyer.

The challenge was, and still is, to provide specialist medical care and treatment as well as good support and counselling for the relatively small number of people (approx. 750) affected by this complex disorder.

The current role of the MSS is mediating between the health system and the affected people:

Main Activities
Publications and Internet
- Our leaflets inform about MFS, medical care, living with MFS and insurance issues. They are available in French and German and are regularly reviewed and updated.
- Yearly distribution of two informative newsletters for the German- and French-speaking regions.
- The website in German and in French www.marfan.ch, which is currently being translated into Italian, provides relevant information.
- A comprehensive hand-book about "Living with Marfan Syndrome" is expected to be published soon.

Meetings
- Yearly Marfan meetings for affected people, their relatives, doctors and anyone interested in MFS usually take place early in September. For language reasons - translation is time consuming and simultaneous translation is very expensive - the following system has proven to be successful:
- A Marfan Meeting for the whole of Switzerland (German, French, Italian and Romansh regions) is held every three years to unite all affected people and their families living in Switzerland.
- In the years in-between, two Marfan meetings take place, one in the German- and one in the French-speaking region, which can of course be attended by people from all regions.
- Informal regional meetings are held in different towns and they are organised by affected volunteers.

Counselling and support
- Counselling people is a very important part of the work and the requests are increasing.
- We offer peer to peer counselling. A group of affected volunteers are only too willing to share and exchange their experiences with others.
- We offer people in difficult circumstances support and mediation.

Medical contacts
- Contacts with the medical profession are an important part of counselling. We keep in close contact with the University Hospitals in Bern and Zurich, as both have highly specialised centres for heart surgery, and Zürich for molecular genetic testing.
- Contacts with individual specialists and family doctors are established and maintained.
- Medical discussion rounds and workshops are organised by the doctors on our board.

Information campaigns
- Regular information campaigns in national medical journals take place.
- Information and public relation campaigns take place, this also in connection with fundraising, e.g. the Swiss Telethon and Swiss Love Ride events.

The MSS is a member of IFMSO, EMSN (current Chair Béatrice Preston, Switzerland) and Eurordis.

Outlook:
The MSS continues to do everything possible to improve living with MFS in Switzerland.
Ageing with Marfan is becoming a very important topic, and because of this new problems in terms of support, counselling, and medical care will have to be taken into account.
Continued scientific progress will bring about many changes which will require our close attention.
The resulting long-term care with the possibility of new problems, as well as the continual progress in research of this complex disorder (and overlapping disorders), calls for innovative ways in providing the best specialist medical care and treatment within the limits of the Swiss system.

Many thanks to IFMSO for this opportunity to present the MSS, to all our Marfan Friends worldwide, and to all the people who have contributed to improve the lives of people affected by Marfan syndrome.

Current members of the board:
Angie Hagmann, Chair, communication and public health
Giancarlo Bombardieri
Dr. med. Armand Bottani
Patrik Brunner, lawyer
Prof. Dr. med. Thierry Carrel
Andres Hefti, finance specialist
Bruno Seewer
Prof. Dr. med. Beat Steinmann

Staff:
Office Manager and Counsellor: Maëlle Perez-Humpierre

Address:
Marfan Stiftung (Schweiz)
Fondation Marfan (Suisse)
Fondatione Marfan (Svizzera)
Marfan Foundation (Switzerland)
Marktgasse 31, CH-3011 Bern
tel. ++41 (0)31 312 11 22 Fax ++41 (0)31 312 11 20
e-mail: info@marfan.ch, www.marfan.ch

Events and Activities and Correspondence

We continue to receive e-mails from various world contacts and Marfan organizations throughout the world. I mentioned last issue on the wonderful variety of newsletters that each organization provides - both in paper copy and through the e-mail. Viewing the various web sites is a similar to a trip around the world. But in this case you can see different languages, different types of printed materials, different ways of approaching illness and medical needs. Much of this information can come from the examples of the individual newsletters from various countries. Below are some examples of e-mails and research activities. An extremely important article is included below relating to the on-going clinical trial being conducted through the efforts of the National Marfan Foundtion (NMF) and the National Institute of Heart, Lung, and Blood (NIHLB). This is a three year trial and is reported on by Dr. Josephine Grima, Director of Research at the NMF.

NMF Report on the Losartan Clinical Trial - News from the United States

Enrollment is Needed in Clinical Trial on Marfan Syndrome Treatment
Ghent University in Belgium is One of 18 Trial Sites

The National Heart, Blood and Lung Institute (NHLBI) of the National Institutes of Health (NIH) is funding a major clinical trial to study the effects of the drug losartan versus the beta-blocker atenolol on the aortas of people who have Marfan syndrome. Long-awaited by the Marfan community, the trial - which is being conducted by the Pediatric Heart Network (www.pediatricheartnetwork.org) and a number of approved Marfan syndrome clinics - hopes to answer whether or not the positive effects seen in mice who took losartan (Science, April 7, 2006) will have the same result in people with the disorder.

Marfan patients in Europe are encouraged to participate by contacting the study coordinator at Ghent University, Belgium: Sylvia De Nobele, 32-9-332.63.39. The principal investigator at the site is Dr. Bart Loeys (bart.loeys@ugent.be).

In order for the research to be conducted, 604 patients are needed. Just over 200 are currently enrolled. The faster the enrollment takes, the faster researchers can obtain the answers about the medications.

The criteria for participation in the trial are as follows:

• Be between the ages of six months and 25 years at the time of enrollment. (200 of the 604 participants must be between 16 and 25 years of age.)
• Meet the Ghent criteria for diagnosis of Marfan syndrome.
• Have an aortic root measurement with a "z-score" of greater than 3
• Not be pregnant.
• Not have had any previous aortic surgery.
• Be able to tolerate beta-blockers and losartan.
• Not need to take a beta blocker for some medical problem other than a dilated aorta.
• Commit and be able to have all echocardiograms done at a study site.

Said National Marfan Foundation President and CEO Carolyn Levering, "The NMF is grateful to NIH, NHLBI and the Pediatric Heart Network for their commitment to accelerate the clinical trial on losartan vs. atenolol. Their support is making it possible for researchers to conduct a rigorous, scientific protocol that can lead to the establishment of international standards for the treatment of Marfan syndrome."

There are currently 17 additional trial sites - 15 in the United States and two in Canada. For a complete list of sites, and for other trial information, visit the National Marfan Foundation website (www.marfan.org) and click on Clinical Trial Information.

The following is a brief financial rundown of IFMSO expenses and income.
We will supply a more detailed financial statement next issue.

IFMSO Member Organization's Record of Due Payment ($25.00 yearly)
COUNTY IIMFSO DUES PAID
Argentina
Australia-Queensland 2003
Australia-Victoria 2007
Australia-New South Wales
Belgium-Magnee 2006
Belgium-Kontakgroep
Brazil
Canada 2006
Cuba
Denmark 2008
Finland
France--Torcy 2008
France--Montmorency
Germany
Greece 2003
Ireland
Japan Marfan Association 2008
Japan-Marfan Network 2007
Mexico 2006
Netherlands 2005
New Zealand
Norway 2008
Peru
Poland 2006
Singapore
Slovakia
South Africa 2003
Spain 2003
Sweden
Switzerland 2006
United Kingdom 2006
United States

IFMSO Financial Information:

IFMSO REVENUES AND EXPENSES FY 03 -- FY 08

Earthlink (web site):

* The monthly cost is $19.95 - (yearly $239.40)
* Peter Ciccariello - The web master is volunteer
* Priscilla Ciccariello (President) is volunteer
Future Issues of the IFMSO E-Newsletters

Below is a list of the subjects planned for future issues of the IFMSO E-Newsletter.

If you have ideas to contribute or would like your organization featured in a future newsletter, let me know at cilla71@aol.com

June/July, 2008
U.S. Conference in Boston
Follow-up on Losartan Trial
November/December, 2008
Germany
Update on the 2009 "Marfan Syndrome Research Symposium."

Recent and Future Events

Philippines:
We have heard regarding the Philippines and there is a new organization, PSOD - which is the "Philippines Association for Orphan Disorders," and the Marfan syndrome is one of the disorders included in the coalition. This good news is from Kathy Jeffers, (NMF Volunteer Development) of the National Marfan Foundation, which is in communication with Jovie Barretto-Apolonio, one of the PSOD members. The Apolonio family had attended an NMF conference in the U.S. in 2005. The NMF is an important source for information regarding Marfan information and research. We will be adding this contact to the IFMSO organization list on the IFMSO web site - www.marfanworld.org.

Two new web site changes :

Argentina: www.marfan.org.ar

Spain: Info@marfan.es, and www.mafan.es

South Africa:
One of my favorite newsletters is the one from the South African Marfan Syndrome Organisation, (SAMSO). Of course one reason is that is is bilingual - both English and Africaans -so I can read the English version. It is always full of information and also interesting. The title of the newsletter is Connections/Bindings. I thought the word "bindings" meant something similar to the English word - sort of "holding together," or "to bind up," but actually Lorna Higgs informed me that "bindings" is the translation of the English word "Connections." You can write to their e-mail address for an e-mail copy: info@marfan.org.za

Denmark:
We also received notice about the Danish organization, the Landsforeningen for Marfan Syndrome. A copy of their newsletter, Nyhedsbrev, is available from the Danish Marfan web site address: http:/www.marfan.dk/nyhedsbrev.php, which serves as a wonderful source of information and services and also information about the organization's activities.

There is an English section on their web site which provides information about their organization - which now features some 140 members. A sample of some of their services:
" Provides advice on social, economic and general conditions concerning Marfan Syndrome.
" How to get "Ambulance-service" for new diagnosed and members, who's situation has acutely grown worse.
" Helps the member by co-ordinating the co-operators within the social- and health service.
" Provides advice and guidance for the municipality, county and health service in concrete or general problems concerning Marfan Syndrome.
This information and guidance is offered by telephone, visits to the home of the member or at the hospital and by participating at meetings with the members within the social-health-or school service, depending on the members wish.

United States

Dr. McKusick the well-known Geneticist and Johns Hopkins University School of Medicine - known familiarly in Marfan circles as the "Father of Marfan," has received a prestigious award this year in Japan. The "Japan Prize" was created in 1985 and awards 50 million yen (about $470,000) to living scientists or engineers. Two prizes are awarded each year in fields chosen by the Science and Technology Foundation of Japan.
Dr. McKusick won in the "medical genomics and genetics" category. Dr. McKusick is well known in genetics communities for his seminal work, Mendelian Inheritance in Man, an encyclopedia of inherited diseases and physical conditions. We in the Marfan world are particularly grateful for his often revised, Heritable Disorders of Connective Tissue, now in its 6th edition, I believe.

Japan

Speaking of Japan, there are now two Japanese organizations. The Marfan Network Japan (MNJ) was the first organization founded in 1996 by a young woman with Marfan sydnrome, Masayo Koto. After Masayo's death in 2004, Yoko Shimozaki became President of the organization and has worked tirelessly to provide publications, activities and support for many individuals and families with Marfan. Their web site is www.,marfan.gr/jp

This past year a second Marfan organization has joined the IFMSO called the Japan Marfan Association (JAMAA). This organization is located in Aichi, Japan and was founded by Hiroshi Yokozeki, who is the Representative director. The JAMAA has an impressive list of accomplishments and is also associated with the Connective Tissue Disease Supporters Council (CSC). The JAMAA web site address is: www.marfan.jp

Good luck to both Marfan organizations. There is much to be done and many hands make light work, as they say.

Spain

We received this e-mail from Nicolas (the Spanish Marfan Association) about Spam and how to avoid it. Thought you might like to read it. [Editor]

Dear Friends:
Utilizo un filtro antispam y seguramente tú también tienes uno.
Te he añadido a mi lista blanca, lo cual significa que recibiré todos los emails que me envíes.
Te agradecería que tú también me añadieras a tu lista blanca.
Si no tienes un filtro antispam, te recomiendo que utilices SPAMfighter. Se trata de un filtro antispam gratuito para Outlook y Outlook Express.
Aquí puedes conseguir el filtro antispam gratuito SPAMfighter:
http://www.spamfighter.com/Pro
Espero que me añadas a tu lista blanca, para así poder intercambiar correos de forma segura en el futuro.

Saludos
Nicolas Beltran
Presidente de SIMA e-mail: info@marfan.es

Upcoming Meeting

Also sent in by the EMSN is the announcement of their next Annual meeting. The next meeting of the European Marfan Support Network - EMSN 2008, and the EMSN Young Adults Meeting 2008 will be held between September 25 - 28, 2008, at the Tulip Inn Leiden Centre, Schipholeweg 3, 2326 XB Leiden, The Netherlands. For more information please contact: Beatrice Preston, EMSN chair, at preston5@bluewin.ch.

Marfan Research Article from the British Heart Journal (BHJ)
Interesting article available on the Internet: "Medical Treatment of Marfan Syndrome: A time for change." By A. Williams, S. Davies, A.G. Stuart, D.G. Wilson, A.G. Fraser. (31 March 2008) Web Address for reprints: http://journals.bmj.com/cgi/reprintform