Marfanworld E-News

International Federation Of Marfan Syndrome Organizations
Volume 4, No. 1. ( January/February, 2009)

This month MARFANWORLD E-NEWS focuses on:
Report from Germany; Internet resources;
Events from World Marfan organizations

In order to introduce a truly international form aspect on the IFMSO web site, each edition of the IFMSO Marfanworld e-newsletter will feature a different Marfan organization with text written the language of that country. The e-newsletter will focus on the different organizations in order to provide greater insight of the different groups' activities, and better communication between the world Marfan syndrome organizations. Countries already featured in previous newsletters were South Africa, Australia, United States, and France.

Greetings!

Happy and Healthy New Year from IFMSO.
This issue of the IFMSO E-Newsletter will throw a spotlight on a very busy and established Marfan organisation in Germany - The Marfan Hilfe (Deutschland) e. V. Marina Vogler has been our contact and we are grateful to her for providing us with the report and a summary of its activities over the past year in Germany. I hope you will enjoy reading of their impressive activities both this year and since their founding in 1991.

We are also pleased to have an article in this issue about the National Marfan Foundation's web site, as well as information about the Wikipedia entry on the Marfan syndrome. We want to thank Jonathan Martin, Director of Education and Public Awareness for the National Marfan Foundation in the U.S. for providing insight into these Internet resources.

As far as the past year and IFMSO, it has been a busy year. We managed to "publish" two editions of the IFMSO E-newsletter in 2008, the first issue spotlighting Switzerland and the Marfan Stiftung, which - founded in 1987 - celebrated its 20th year. Among the impressive accomplishments of the Marfan Stiftung was hosting the 4th International Symposium for Research on Marfan syndrome in Davos in 1996. The report submitted in the IFMSO E-newsletter confirms the continued work of the organisation over the years.

As well as printing the IFMSO E-Newsletter, we continue to get many interesting newsletters from the Marfan organisations throughout the world. I have mentioned several before, such as the South African newsletter, Connections/Bindings, which comes from e-mail - a handy way (and inexpensive regarding mailing costs) to distribute the newsletter. The newsletter of the Landsforeningen for Marfan syndrome, Nyhedsbrev, also comes by e-mail, as do the updates on activities of the European Marfan Support Network (EMSN). I am always pleased to receive the paper copies of the newsletters of so many of the world Marfan organizations - just to mention a few - I recently received the newsletter of Great Britain, the Marfan Association UK, (the most recent issue paying a tribute to Dr. Victor McKusick. The Association Francaise du Syndrome de Marfan newsletter, Vivre Marfan, which is from France, has a beautiful logo. Also arriving in the mail was colorful and jam-packed newsletter of the Marfan Association Victoria, Inc., Marfan Matter; which is one of two organisations and one support group in Australia. And of course, there is the newsletter, Connective Issues, of the National Marfan Foundation, United States, which has been publishing for many years. All of these newsletters are full of information about research and clinical services available to individuals and their families affected by the Marfan syndrome with local resources.

The last IFMSO newsletter included a report on the United States activities and the National Marfan Foundation (NMF, U.S.A.) conference in Boston. The Annual NMF Conference is held in a different state and city each year, and this was the first time it was held in Boston, Massachusetts. Many of the important advances in Marfan research were reported on at the Medical day which had some 200 attendees - the Losartan clinical trials of the greatest interest to the participants and to all throughout the world. The trials are currently underway and we await the findings. It is hoped that some 600 patients will be enrolled in the trials, which could hasten the ultimate findings re the use of Losartan as an effective therapy. We hope to have an update in a future issue of the IFMSO E-Newsletter. So, read on and share the hard work of all those throughout the world who work on behalf of people with Marfan syndrome and their families to find effective therapies and, yes, the ultimate cure.

News from Germany:
The German organisation "Marfan Hilfe" was founded in 1991. In the beginning it was a difficult and hard way to come into contact with doctors and with affected people. So the association had some ups and downs but always kept on going. With a little help from our friends in Switzerland and many volunteers we managed our problems. In comparison with those years in the beginning we can say that it has not become easier, but now we are muchbetter organized.

Our aims are various. We want to bring information to everybody and especially to those who are affected by Marfan syndrome or other similar syndromes, such as Loeys-Dietz syndrome. For spreading information we use meetings, print media and in 1998 we were one of the first Marfan organisations presenting an informative website. The variety of our booklets and folders covers lots of items: children, pregnancy, sports, finding a profession that fits, emergency advices, stories about Marfan life, genetics and so on. Our book, edited 2006 by a medical publisher, was a great success. Our meetings and conferences are well known, not only in Germany but also in other German speaking countries. Our annual "Marfantag" brings doctors and patients together and is a platform for scientists to come into contact. Our countrywide activities are managed by our Marfan office, whereas many other events and conferences are done in the regional groups. At big congresses for cardiology and genetics we are invited to present our information. We often use these congresses to come into contact with doctors and scientists.
Since 2007 we work on the theme "Growing older with Marfan syndrome - 40plus". We had two conferences that helped to understand what the problems are and began to find solutions together with the scientists of our Marfan board. This is an ongoing process.
The second large theme for 2008 was the Loeys-Dietz syndrome. Since doctors identify more and more patients with Marfan-like syndromes we decided to give information on a special website (loeys-dietz.de). We want to go on with other similar syndromes.
In 2007 the German health system accepted Marfan syndrome as one of the rare diseases that need special care. This is laid down in § 116b SGB V and it was a hard work to get through this examination. In the end we succeeded and Marfan syndrome was the first rare disease that was accepted. In future this will be helpful for our Marfan clinics concerning their financial support by the German health system.
All these activities may be the reason why people join our association. In 2008 we became more than thousand members, which is an increase of more than ten percent. On the other hand we tried to help our friends from Austria to build a Marfan association and fortunately they succeeded.
Our cooperation with EMSN "European Marfan Support Network" still goes on. For many years we do our work in the EMSN board and try to share information, experiences and ideas with other European Marfan organisations.

Pictures:
1) Cardiology session with Dr. Rybczynski, Marfantag 2008 in Hamburg
2) Mr. Urban meets Prof. Anne de Paepe and Dr. Robinson, Congress Human Genetics 2008 in Hanover
3) Mrs. Vogler explains the importance of the project "§ 116 b" for the future of the Marfan clinics in Germany, Marfantag 2008 in Hamburg

Editors note: In 2007, the National Marfan Foundation award a research grant to Peter Robinson, PD., Institut of Medical Genetics, Charite Universitatsmedizin, Berlin, in Germany, for a study investigating a possible explanation of variable expression, that is, why some people with Marfan syndrome are more severely affected than others.

INTERNET-BASED RESOURCES CONTINUE TO BRING
THE MARFAN AND RELATED DISORDERS COMMUNITY TOGETHER
Contributed by Jonathan Martin, National Marfan Foundation, U.S.A.

As organizations who work to raise awareness of Marfan syndrome and related disorders, we have all faced the frustrations of trying to ensure that physicians, nurses allied healthcare providers, teachers, and other important people in the lives of affected individuals are adequately prepared to be educated partners in their healthcare and quality of life. This frustration is only compounded when we are working toward this common mission from distant corners of the world from each other, and we all face diverse challenges in our healthcare systems and financial resources to support education, research and support.

The National Marfan Foundation (NMF) struggles with how we can best serve our community here in the United States while still providing guidance and leadership to some of our sister organizations around the world. With the proliferation of the Internet, we are somehow closer together emotionally and intellectually, although continents still separate us physically.

New NMF Website Coming Soon!
The NMF first launched its website (www.marfan.org) in 1996, and has continued to expand and improve it in the 12+ years since. Later this spring, we will launch the latest version of Marfan.org with improved navigation and graphics, more resources for affected families and healthcare professionals, a new and improved online store, and an exciting new social networking area where people in the Marfan community can connect. Please watch for the new site in early March.
As always, all information on the NMF website is available to all free of charge. And we do offer a few resources in Spanish. Unfortunately, we are unable to provide our information in other languages due to limited financial resources. Skilled medical translators can be costly, and it is even more difficult to find those who are knowledgeable on Marfan syndrome. However, we would like to point out a resource that may be helpful to you and your members.
Wikipedia Offers Information on Marfan Syndrome in Many Languages
The free encyclopedia website Wikipedia offers basic information on Marfan syndrome and some related disorders in dozens of languages.
You may ask, "What is Wikipedia?" Here is a good explanation from their website at http://en.wikipedia.org/wiki/Wikipedia:About:

"Wikipedia is a multilingual, web-based, free-content encyclopedia project. Wikipedia's articles provide links to guide the user to related pages with additional information. Wikipedia is written collaboratively by volunteers from all around the world; anyone can edit it. Since its creation in 2001, Wikipedia has grown rapidly into one of the largest reference Web sites, attracting at least 684 million visitors yearly by 2008. There are more than 75,000 active contributors working on more than 10,000,000 articles in more than 260 languages. As of today, there are 2,728,805 articles in English. Every day, hundreds of thousands of visitors from around the world collectively make tens of thousands of edits and create thousands of new articles to augment the knowledge held by the Wikipedia encyclopedia."

Wikipedia articles are written by volunteers from around the world, and can be edited by anyone who is willing to adhere to their editing guidelines. Therefore, the content continually grows as more people contribute to it. This can be of great benefit to people around the world for whom information is not easily accessible in their native languages from other sources. However, users should remember that the content is not always going to be 100% accurate, and that it takes time for articles with faulty information to "self-correct" as others review the information.

The English language listing on Marfan Syndrome can be found at: http://en.wikipedia.org/wiki/Marfan_syndrome . The list of languages for which Wikipedia has other article on Marfan syndrome is on the left side of the page.
So, for those who need some basic information about Marfan syndrome or related disorders, take a look. Take the information to your doctors to verify accuracy, and always be sure to ask questions. But it is at least a start until you are able to access other information in your language. For those who consider themselves very knowledgeable about Marfan syndrome, why not take a look and see if you can help improve the content in your language. It will make it easier for the next person who comes along!
-------------------------------------------------
Jonathan Martin, MS
Director of Education
and Public Awareness Programs
National Marfan Foundation
22 Manhasset Avenue, Port Washington, New York, U.S.A.
www.marfan.org
Marfan Syndrome: Learn About it. Recognize it. Save a life.

News and Events from other World Marfan Organizations:
We welcome news from all Marfan organisations and individuals throughout the world --

We received a nice letter from Dr. Pavie Kovachevic, a Cardiovascular surgeon from Novi Sad, Serbia. She is also in communication with American surgeons in the field, sharing current information. She writes, "that more and more we are facing the problem of the aortic dissection and Marfan disease on whom we are operating." She writes that they are currently establishing a national organization for Marfan and other aortic dysplasia disorders, and interested in joining the IFMSO. We have responded with the information, and are greatly pleased to include Serbia as another country within the IFMSO family of Marfan organizations. See list of IFMSO organizations and contacts on the left of the IFMSO Home page - http://www.marfanworld.org

Talking about the interest in research on the Marfan syndrome thoughout the world, there is great news regarding the planning underway for the 8th International Symposium on Marfan Syndrome. The planning committee of the International Symposium on the Marfan syndrome has been chosen and consists of Hal dietz, Bart Lowys, Peter Byers, Guillaume Jondeau, Anne De Paepe, Duke Cameron, Lynn Sakai, and possibly some representing the Asian Countries. An invitation letter to participate on the planning committee and a planning committee meeting will be sent shortly. The symposium will be set up for Fall, 2010 in the United States.
Handy brochure available for the traveler:

The Medical Emergency Information brochure prepared by the Norwegian Marfan organization is still one of the most concise and useful brochures for the world traveler. It contains descriptions of Marfan syndrome and various conditions in 12 different languages. Should there be an emergency while traveling, the brochure serves to alert any medical staff as to important tests and risks. It is available from the Marfan foreningen (Norway) and the European Marfan Support Network (EMSN) website: www.marfan.de/emsn or www.marfan.no

Information from different World Marfan Organizations, with excerpts from their newsletters and web sites;

Meet SAM - he is the mascot of SAMSO
and appears on our Fact Sheet/Inligtingstuk."

News from SAMSO

South African Marfan Syndrome Organisation
Suid-Afrikaanse Marfansindroom Ondersteuningsgroep
P O Box/Posbus 12895, Queenswood, 0121, South Africa/Suid-Afrika
Tel: +27 12 333 3894 (Mon. & Wed./Ma. & Wo.)
E: info@marfan.org.za

Meet SAM Sam is the mascot of SAMSO and appears on our Fact Sheet/Inligtingstuk.

Also note change of address
SAMSO has had to find a new address for mail. Our mail, in the box, inside the post office, has been ruined if it has rained before we collect it, due to a leaky roof. Our complaints are ignored or lost and we have had to find a dry post box. All of our letterheads, information leaflets, website, etc. have needed to be changed.
New address:
SAMSO
P O Box 12895
Queenswood
0121
South Africa

SAMSO Meeting/Vergadering

The next SAMSO meeting (in the Gauteng area - Pretoria/Johannesburg/ Vereeniging) will be on 24 January 2009. All welcome!
Die volgende SAMSO vergadering vir die Gauteng-gebied (Pretoria/Johannesburg/Vereeninging) sal op 24 Januarie 2009 plaasvind. Almal welkom!

Warnings/Waarskuwings (Webmaster - This article, in English and Afrikaans, is in an attachment if you want to use it.)
The article that appeared in our May 2008 newsletter (Connections/Bindings Vol.9 No.3) and added as a new page to our website (www.marfan.org.za), has resulted in a number of our members taking note of what can go wrong and following up potential problems with their medical practitioners, e.g. a retina problem was treated early and successfully, and a member has changed her exercise regime to a beneficial and safe one.

Marfan Syndrome Awareness
SAMSO has managed to arrange interviews on three radio stations during the year and continues to send media releases to all the main newspapers, community newspapers and radio stations in South Africa twice a year.
Every week SAMSO receives requests for information as a result of the few media releases that are used and our website in English and Afrikaans (www.marfan.org.za). The website is updated regularly.

Prevent death, disabilities and blindness. Make sure that you get the correct treatment for Marfan problems! Only YOU can do it!

· Have regular medical examinations of your:
o Heart and aorta.
o Eyes - detached lenses, retinas, glaucoma, cataracts.

· Keep your blood pressure low to prevent aortic aneurysms and dissection (tearing).

· NEVER do the following exercise:
o Isometric (straining) - weight-lifting, press-ups, etc.
o Competitive sport.
o Contact sport (impacts) - rugby, boxing, netball, etc.
o Until you are tired and your pulse is above 110.

Very sharp (tearing or stitch-type) pain in the chest, back or abdomen could be aortic dissection (tearing). WARN the doctor.

· Spinal surgery - warn the surgeon before the operation:
o Internal spinal bracing often works loose in MFS.
o Larger than normal grafts are needed in MFS.

Foot and hand operations are usually unsuccessful in MFS and often result in worse problems.
· Dural ectasia (spinal cord swelling) - warn surgeons about the possibility of it before lower spine operations.

· Eye surgery often results in a detached retina.
o Get immediate attention for floaters, "ink" patches and flashing.
o PRK and LASIK surgery (on the cornea) is not recommended in MFS.

· Hernias need extensive repair in MFS to prevent future hernias, especially at the operation site.

· Keep fit with GENTLE exercise to strengthen the heart, bones, joints and muscles that support the spine.

· Do not take herbal remedies as some of them are dangerous in MFS. Only take supplements if tests have proved that you need them. A balanced diet provides everything you need.

The Marfan support group in the state of Victoria, Australia, has been running since 1989. It gained strength and momentum in 1997 and in mid 2007, celebrated the 10th anniversary as an officially incorporated and charitable body, known as the Marfan Association Victoria Inc. This milestone was recognised by launching the www.marfanvic.org.au website, which has proven a great resource for communicating information and providing a place of contact from all facets of the community.

A special Anniversary edition of the Marfan Matter newsletter was widely distributed in August 2007. It covered the history, achievements and an international snapshot of "where in the world we are" - which was subsequently published in the International Federation of Marfan Syndrome Organisations e-newsletter. The culmination of last years celebration was the special Annual General Meeting, held in the ornate suites of the spectacular and gracious Regent Theatre in Melbourne - where many world famous musicals and theatrical performances have been staged.

Guest speakers included Associate Professor, Bronwyn Kingwell, who headed the exciting Australian research breakthrough in drug therapy at the Baker Heart Research Institute in Melbourne, published in JAMA on October 7th .2007. Bronwyn presented the findings by her team of researchers and clinicians, in the trial drug study of Perindopril for patients affected by Marfan and explained how Transforming Growth Factor Beta (TGF?) increases the activity of enzymes (MMPs) that basically chew through the structural tissue of the aorta, reducing its elasticity, strength and ability to accommodate blood flow. Perindopril, which is an Angiotensin Converting Enzyme (ACE) inhibitor, has been found to not only reduce TGF??levels in the blood, but also repair the aortic tissue making it stronger and more pliable. As a consequence the aortic diameter is reduced. This likely reduces the risk of aortic dissection and rupture.

Dr. Lesley Ades also gave a remarkable presentation. Her attention to the detail of facial features and specific changes through development, have the potential to assist the diagnosis and differentiation of closely related but separate genetic disorders such as Loeys-Dietz syndrome type 11 and Ehlers Danlos syndromes. She is promoting the benefits of looking for specific characteristic features and changes, even by using historic family photographs, to help direct doctors and researchers to the right pathway to achieve diagnostic results more expediently and efficiently.

Dr. Ades explained the role of TGFB receptors and the signalling pathway, which are integral to the underlying mechanisms that cause many of the changes represented by clinical features of Marfan syndrome and related conditions. Many different connective tissue proteins are intricately linked to the TGF beta signalling pathway. Her PhD student is currently studying patients with mutations in FBN1, TGFBR1, TGFBR2 , and patients with unknown mutations, to look at the altered effect on TGF beta signalling in their cells, in the hope that this will provide new insights into understanding the mechanism of disease in this group of connective tissue disorders.

The following year was filled with numerous activities and speaking engagements to raise public awareness for Marfan syndrome. Great support was received from various community sectors. Presentations on Marfan syndrome were made every quarter, to International health professionals, as part of the English course at the Centre for Advanced Education in Melbourne. It is always very positive to hear from the younger doctors, that Marfan syndrome has been prominent in their medical studies and examinations worldwide. The objective of these presentations is to give international professionals the opportunity to listen and communicate with a speaker delivering a relevant subject of interest to their profession. It is such a positive and mutual collaboration for Marfan awareness.

On April 13th 2008, we were "Walking Tall for Marfan" and "zooming" around Albert Park Lake Melbourne (famous for the Formula One Grand Prix) together with about 100 hearty supporters who all contributed to the incredible result of raising $8,745.10 for Marfan research.

Committee members worked solidly towards the staging of our Marfan walk and Association members, families and friends threw their dedicated support behind the event. Everyone was out promoting Marfan and finding media attention, support and donations in many diverse areas of the community. We even had a rally driver take Marfan awareness to the famous Targa Tasmania rally to drive his heartfelt message along the way. His 1957 Austin Healey 100/6 rally car was emblazoned with the slogan "Help Cure MARFAN" down the full length of the front panel.

As a result of the Hearty Walk for Marfan, conbined with fundraising efforts and Memorial donations the Association has just made a donation of $10,000.00 to the Marfan Research Group in Sydney headed by Dr. Lesley Ades. This brings our total contribution for this group to $27,200.00.

An exciting year has been sombered by the passing of two great individuals whose lives have made an everlasting impact on humanity around the world. It was with deep sadness, we received the news, that Dr. Victor McKusick, "the father of genetics", passed away on July 22nd. 2008, Dr. McKusick has touched so many lives around the world through his brilliant talent, scientific mind and truly dedicated heart and resolve to look after people with his instinctive and acute attention to detail which has borne outstanding global achievement and recognition in medicine. His early choice of career and expertise in cardiology was only the precursor to greater "matters of the heart" and his pioneering discoveries in the discipline of human genetics, examining the profound connections between different disorders. His wisdom and special interest in the Marfan syndrome has left an indelible legacy which gives support and hope to all individuals affected by Marfan syndrome and other connective tissue disorders.

Dr. McKusick epitomises the many meanings of the word "heart" through an unique analogy to his core personal attributes of spirit, mind, compassion, empathy, sensitivity, kindness and concern. The heart of the worldwide Marfan community is stronger and more resilient for his lifetime contribution

On September 26th 2008, the world lost another one of its most genuine and generous human beings.
Paul Newman was no actor - he was the genuine persona of a real and truly great man, who has profoundly touched infinite lives around the world in so many creative ways.
Paul Newman's philanthropic message to share and care for others is reflected in Newman's own shining example. Through his charitable heart and original food enterprise, he has supported thousands of little known groups like ours, around the world.
Personally, I attribute the successful launch of our Association to the staggering support of Paul Newman. His provision of funds on two separate occasions, allowed us to publish invaluable material to assist those affected by Marfan syndrome, while in tandem, educating the wider community about this obscure genetic condition. Ten years ago supportive and informative printed material was non-existent within our community and Paul Newman provided the means for us to develop and publish booklets and pamphlets for distribution and circulation.

It remains surreal to know that this internationally famous man, living on the other side of the world, had such a significant and profound impact on a small group of individuals, who were struggling to perform a huge task against so many odds, to promote Marfan syndrome and provide timely support for numerous affected individuals. Paul Newman will remain the King of Hearts in the history of the Marfan Association Victoria Inc.
We truly feel the sad loss but will treasure the unique connection and legacy he has provided for the Marfan Association Victoria Inc. It was reported that his last words to family were "it has been a privilege to be here".
Our lives are privileged to be touched by Paul Newman. He will always be here as his star will continue to shine forever.

I would like to thank the Marfan Association UK, the National Marfan Foundation and the International Federation Of Marfan Syndrome Organisations, for their continued collaboration and sharing of Marfan Material for our Association.
Special season's greetings to Priscilla and all our Marfan friends around the world who have heart for Marfan Matters.

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.