Having trouble reading this newsletter? Click here to see it in your browser.
As we enter into this time of thanksgiving and family, we, at the LDSF, hope you are having time to slow down and enjoy some apple cider, pumpkin lattes, or whatever else does your heart good!
I have recently returned from the American Society of Human Genetics (ASHG) meeting, held in San Francisco, California, where I was highly encouraged by all the research presentations on LDS and related connective tissue disorders. Dedicated physicians and researchers around the world are compiling their patient data to expand our knowledge about the clinical features of Loeys-Dietz syndrome. They are finding new genes responsible for Loeys-Dietz syndrome, and they are looking into mouse models for further ways to understand the tgfbeta pathway and how we might be able to impact it through medications. It really is an exciting time in connective tissue research.
In the next few weeks, we're excited to share with you how your donations have made it possible to help support basic science research supporting LDS. It is through the generosity of all of our donors that we are able to keep providing research support, conference, and new LDS resources back to our community.
Thank you to all those who have given this year! Be it monthly giving, donating a birthday, a happy hour event or running in a 5K, we are so honored and encouraged by our members who are Taking Heart in support of the LDSF! Every dollar makes a difference and we hope you'll continue to support the LDSF through the rest of this year and beyond.
As alway, we thank you for your continued support and dedication to the LDSF.
Until next time, Take Heart.
|Gretchen Oswald - President, Board of Directors, US|
On September 23, Sal Fratino, director LDSF-Canada, patricipated in the Montreal Marathon to raise funds for the LDSF-Canada. Due to an injury the weekend before training, Sal finished the half-marathon course in 2 hours and 28 minutes.
"Although I felt good the morning of the race," says Sal, "I was not 100% and were it not for the great cause I was running for and the wonderful people supporting me, I would not have run. As I was approaching the half marathon, I was struggling and limping and I made a decision to complete the half as any further running would have aggravated more injury and in any event, I would have not finished the race."
Sal raised close to $40,000 for the LDSF-Canada and is working on his recovery with the intent of doing a full marathon in 2013. Congrats to Sal on his accomplishment and a big thank you to all who supported and donated to his efforts.
Connor Wilson's 1st Birthday
In October, Connor Wilson celebrated his first birthday! Parents, Julie & Chris asked guests to consider a donation to the LDSF to celebrate his first year.
"During his first year of life, our Connor has endured so much - 85 days in the hospital, 5 surgeries (two for his heart), over 12 medical specialists, 39 outpatient appointments, numerous x-rays, CTs, MRI's, "pokes", and other tests. Yet, he wakes each day and smiles, happy to be alive," says Julie. "We are better people because of him and this world is a better place because he is in it. We are very proud of him and his courage - he is our hero."
Connor's friends helped to raise $800 for the LDSF. Thanks to all who honored the Wilson family in this way!
Wyatt Moser's 1st Birthday
In August, Wyatt Moser celebrated his first birthday!
"In honor of Wyatt's first birthday we asked our friends and family to make donations in his honor to the LDSF," says mom, Kristy. "We hope the money raised will help in research that will impact our sweet boy and the many others impacted by LDS."
Thanks to the Moser Family for giving up Wyatt's birthday to honor him through the donations!
Kiss FromThe Heart
In August, Nia Tauer and her husband decided to "kiss from the heart" at their wedding reception! "Instead of clinking glasses for kisses, we accepted any amount of donation to the Loeys-Dietz Syndrome Foundation!" said Nia. "I'm proud to say our fabulous guests helped to raise $700 for the LDSF!"
Special thanks to the Tauers and their guests for contributing to the LDSF during their special day.
Canadian Cardiovascular Conference
On Oct. 27 to 30 in Toronto, Ontario, the Canadian Cardiovascular Conference (CCC) hosted 4,000 cardiovascular professionals from Canada and around the world. The LDSF-Canada sponsored a booth representing the Foundations with participation by Sandy Topper, Francoyse Fratino & Joseph Galli, directors of the LDSF-Canada.
More than 125 medical professionals stopped by the booth to learn about LDS and left with medical materials provided by the Foundations. Interest in LDS was very strong and many medical professionals indicated that they are seeing more cases, as they now know more about what the condition.
Xavier University Presentation
In September, Kristy Moser and her son Wyatt were invited to speak at a child development class at Xavier University in Cincinnati, Ohio. Through Facebook, Kristy had reconnected with some of her old professors who took an interest in her journey with Wyatt, age 1, diagnosed with LDS in 2011.
"I was able to come to campus and tell a class of undergraduate education majors about Wyatt and LDS," says Kristy. "The students were able to observe Wyatt and how he interacts with the world around him, while asking questions and trying to figure out where he was on the development spectrums they had been learning about in class. They were able to put their classroom knowledge to the test and Wyatt and I were able to raise some awareness about LDS. It was a win/win!"
The LDSF is greatful to all of it's donors who make our mission to encourage education, foster research and provide support possible. Please consider partnering with us to make a difference in the lives of those impacted by LDS.
IN THIS ISSUE
What's My Type?
With the discovery of the fourth gene responsible for Loeys-Dietz syndrome, there has been some confusion about the LDS–type naming system. The previously recognized naming system may be changed to more accurately categorize the similarities and differences between those individuals who have different genetic causes to their Loeys-Dietz syndrome.
American Society of Human
Genetics (ASHG) - Reviews
In November, more than 6,000 physicians, researchers, genetic counselors and genetics clinical and lab trainees attended the American Society of Human Genetics (ASHG) Annual Meeting in San Francisco, CA, to learn abou tthe newest research and discoveries concerning a wide variety of genetic topics.
What follows are brief reviews of oral and poster presentations exhibited during the conference. We are grateful to all those physicians and researchers who submited their experience with Loeys-Dietz syndrome to help further knowledge in the genetics community.
LDSF Medical Advisory Council
At the 2012 Conference, the LDSF Medical Advisory Council (MAC) was introduced. This group of physicians will provide ongoing review of medical resources and guidelines created by the LDSF, help guide research initiatives and be available for education opportunities through the LDSF.
The initial MAC composition is based on having a diverse representation of medical subspecialties and geography with demonstrated experience with and commitment to patients with connective tissue disorders. We are also excited to promote our global vision by having representation from around the world. We are grateful for their availability, expertise and guidance.
At our first meeting, the MAC charged the LDSF Board of Directors with two major initiatives to move the LDSF forward and have significant impact on the health and quality of life outcomes for individuals impacted by LDS. The first initiative is the development of medical guidelines for the diagnosis and management of those with LDS. The second initiative is raising funds and providing infrastructure for the creation and management of a Research Registry, enabling us to capture medical history and imaging information to answer key clinical questions.
We are optimistic about moving forward with these initiatives and we are looking for key leaders within the LDSF community to potentially take the lead in driving the Research Registry initiative forward. Please contact Gretchen Oswald, President, at Gretchen.Oswald@loeysdietz.org for more information about getting involved.
Our Board of Directors is pleased to announce that the next LDSF Conference will take place June 26 to 28, 2014 in Baltimore, MD.
This will be a time to gather with other patients, family members and medical professionals to learn about LDS, build support networks and cast a continued vision for the LDSF. Accomodation and registration details are in the works and more information will be coming out in early 2013. We hope you'll put the dates on your calendar now and plan to join us in 2014 for this exciting weekend.
Revised School Packet
At the 2012 Conference a group of participants met and discussed issues with LDS students in school-based settings. Based on those discussions, revisions took place to our School Packet resource. This document is meant to help parents communicate better with the their schools about LDS and any special accomodations their child might need.
Special thanks to Board member Sheila Waid for leading the session and revision efforts!
Save The Date
Some of our wonderful fundraisers are already starting to plan for their events in 2013. We hope you'll save the date to join and support their efforts!
Cross the Finish Line For Caroline - 5k & Fun Run
Pins For Peyton & Gracie Too
Interested in finding out more about hosting your own fundraiser for the LDSF? Email us at firstname.lastname@example.org for more information.
Heart Pins & Cards
LDSF Heart Pins and Greeting Cards are now available for ordering. Support the LDSF with these fundraising items and help spread awareness too.
Consider a heart pin or pack of cards for your holiday giving! They make great and unique gifts for the upcoming season.download the order form
Loeys-Dietz Syndrome Foundation
US - P.O. Box 22468, Baltimore, MD 21203
Copyright © 2012