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Wow - what a summer it has been! Our 2012 Conference was a huge success, thanks to all our amazing families and medical professionals who came together for a few days in Baltimore to share, connect and brainstorm. Two wonderful and successful fundraisers have taken place since our last newsletter. Pins for Peyton & Gracie too, along with To The Links For The LDSF helped raise a significant amount of funds to support our mission to encourage education, foster research and provide support. We are grateful to those who participate and even more to those who gave of their time and talents to put on such wonderful events that raised awareness and funds for the LDSF.
As we look to the fall season and the rapidly approaching end-of-the year, the Board of Directors is already begining to lay the ground work for new resources, new support and new goals for 2013. In order to accomplish our dreams - of staff support, of a new web site with greater resources and of funding research initiatives - we need the financial support of our members. From our estimates, it will take approximately $365,000 to move the LDSF into our next phase of dreams and we know we can't get there without the monetary donations of members like you.
We ask that you would dream big with us and consider a donation to the LDSF in the coming months. In addition, we are looking for several families to step into the challenge of putting on a fundraiser in their local communities. We have support and resources available to help get you started. Will you consider that step? If so, please send us an email at email@example.com. We look forward to seeing how each of you takes a step to financially invest in the future of the LDSF.
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|
Pins For Peyton & Gracie Too
The 4th annual Pins For Peyton and Gracie Too bowling fundraiser took place on May 19th in Portage, IN. The Griffith Family, Sarah and her LDS-impacted family - Randy, Peyton & Gracie - put on a spectacular community event that raised awareness about LDS and was a huge success raising more than $24,000 for the LDSF. Special thanks to the Griffith family and their volunteers for another year of amazing support for the LDSF.
To The Links For The LDSF
On Friday, July 20th at Fire Ridge Golf Course in WI, the Jurgens Family teamed up with Steve and Christina Novak to raise funds for the LDSF. Golfers hit the links for a beautiful day on the course and then were joined by others for dinner, silent auction and information about LDS. More than $16,000 was raised for the LDSF. Many thanks to all the wonderful volunteers and donors who made the first To The Links a huge success.
Granfando Bike Ride
Joseph Galli, director and co-founder of the LDSF-Canada, completed 180km while raising funds for the LDSF-Canada during the Granfondo bike ride on May 20th in New York City. 115 supporters helped Joseph raise more than $24,000 for the LDSF- Canada. "It took me 8 hours and 32 minutes to complete my ride on a beautiful day with no rain. The course was very tough with approximately 23% of the riders NOT finishing. There were more hills than I could ever imagine!" said Joseph. Congratulations on a great ride and a successful campaign for the LDSF.
Jewish General Talk
On April 18th, Dr. Judith Therrien, a member of the leadership team at the MAUDE Unit (McGill Adult Unit for Congenital Heart Disease) in Montreal hosted a presentation on LDS for the cardiology residents. Joseph & Johane Galli, co-founders of the LDSF-Canada, discussed LDS and its impact on patients and family members.The students were very keen to help identify patients with LDS.
Dr. Therrien is an Assistant Professor of Medicine at McGill University and is on staff at the Sir Mortimer B. Davis Jewish General Hospital and the McGill University Health Centre.
On April 27th Dr. Julie Richer, genetics Program Director at CHEO (Children's Hospital of Eastern Ontario), hosted a discussion group on LDS. Dr. Richer covered LDS and related connective tissue diseases and Joseph Galli, director and co-founder of the LDSF-Canada, covered LDS, the multidisciplinary clinic model and the impact on patients and family members.
On May 17th and 18th, LDSF Board Member Raquel Gomes attended the Pediatric Orthopedic Society of North America's (POSNA) annual conference in Denver, CO. While at the event, Raquel met with more than 30 pediatric orthopedic surgeons and presented materials about LDS and the LDSF helping to raise awareness in this segment of the medical community.
National Marfan Foundation Conference
On August 2nd to 5th, LDSF President, Gretchen Oswald attended the 2012 NMF Conference in Chicago, Il. Gretchen represented the LDSF and met with several LDS families during the weekend, as well as hosted sessions on LDS.
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
A New Gene
July 8, Nature Genetics
On July 8th, in the online publication of Nature Genetics, two articles described a new genetic aortic aneurysm syndrome caused by gene mutations in tgf beta 2 ligand:
There is significant clinical overlap between this condition and Loeys-Dietz syndrome, including arterial tortuosity, aortic root aneurysm and other skeletal features.
For those families or individuals who already have a positive genetic test for mutations in the TGFβR1/2 genes or SMAD3 gene, no further testing is necessary. But for those who have negative testing for these genes and have LDS-like features, this will be a testing option in the future. Typically it takes a few months for a research result to become a clinically-available lab test.
There are a growing number of individuals being diagnosed with LDS through a mutation in the SMAD3 gene. Monica Schmidt is the mother of 8-year-old Dylan who has been diagnoised with LDS-Type 3 earlier this year. Find more about Monica and her desire to connect with other LDS families, particularly those with mutations in the SMAD3 gene.
Conference 2012 was a wonderful success - a time of learning, sharing and dreaming about the future. Thanks to all who made the weekend what it was and participated in ways big and small. Video and photo presentations will be available in the coming weeks of portions of the event - check your inbox for an email blast with details.
Heart of Gold
During the Conference, the LDSF Board of Directors presented the "Heart of Gold" award to the Bange family. The award recognizes an individual or family that has gone above and beyond to raise awareness and funds for the LDSF. We are thankful for the time, effort and talents the Bange family have given to the LDSF.
The LDSF has big dreams for the future. But, like all things, dreams take funding. In order to reach our goals of a bigger, better, more supportive Foundation that raises more awareness and funds more research, we need members to take the lead and raise funds for the LDSF. While any idea and effort to support the LDSF is welcome, the Foundation is working on providing support and materials for 3 unique events - Bowling, 5k and Happy Hour - that have shown success in the past. You can watch the short video about these events at the link below and email Megan at firstname.lastname@example.org.
Dr. Fishman Presentation
On Friday, prior to the start of the LDSF Conference, a group of doctors from Canada met with Dr. Elliot Fishman, Professor, Radiology and Oncology and
Director, Diagnostic Imaging and Body CT at the Johns Hopkins University. Dr. Fishman invited the visiting physicians to his radiology lab to discuss 3D reconstruction and LDS imaging reads.
MHI - First Clinics
Board of Directors
Dr. Rosemary Batanjski became the newest member of the LDSF Board of Directors this summer. Click below to read a bit more about Rosemary.
We're continually looking to grow our Board of Directors. If you have skills and interest in supporting the LDSF in this way, please email Gretchen for more information at email@example.com
Mo: A Loeys-Dietz
by Kate Jurgens
LDSF Board Member Kate Jurgens spent 17 years journaling her experiences with her daughter Mo, diagnosed with LDS in 2005. Her labor of love has recently been published as a poignant memoir available now on Kindle or this fall in paperback.
Heart Pins & Cards
New LDSF Heart Pins and Greeting Cards are now available for ordering. Support the LDSF with these fundraising items and help spread awareness too.download the order form
Loeys-Dietz Syndrome Foundation
US - P.O. Box 22468, Baltimore, MD 21203
Copyright © 2012