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Matters Of Heart - Spring 2012
Author

HELLO!

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 info@loeysdietz.org. 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 Gretchen Oswald

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.
view a PDF on LDS gene associations

SMAD 3 Contact

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.
small arrow read about Monica and SMAD3

Loeys-Dietz Syndrome Affects Bone Microarchitecture
Most research has examined the vascular manifestations of LDS, but as awareness has grown, many orthopaedic manifestations have been identified. Recent case reports suggest LDS patients may develop early osteoporosis with increased fracture incidence and delayed bone healing. The role of TGF-β receptor mutations in the pathogenesis of these musculoskeletal manifestations remains unclear. No group has explored the effects of this disease on bone at the molecular level. In this study, a group at the Johns Hopkins University investigated the effect of LDS on bone morphology and microarchitecture in a murine (mouse) model.
read the synopsis and see the poster

LDSF Kids at the opening of Conference

Conference 2012

 

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.
watch the Heart of Gold video


Fundraising

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 volunteer@loeysdietz.org.
arrow watch the onference fundraising video


Doctors with Dr. FishmanDr. 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 Clinic TeamMHI - First Clinics

On May 4th the LDSF-Canada and the Montreal Heart Institute (MHI) launched the Aortic and Connective Tissue Clinic (ACTC). This clinic has been in the works for 6 months and saw 11 patients at the first session. Patients had the opportunity to see a cardiac surgeon, a cardiologist, a genetics counsellor and a geneticist. Based on preliminary evaluations prior to the clinic, select patients also saw an opthamologist as well. After the initial clinic day, the medical team held a follow-up meeting to review each case and to develop a customized care plan for each patient. Numerous patients were referred for additional sub-speciality consultations.


Based on this holistic approach to care, patients were able to obtain a clear picture of their medical situation within a short period of time versus the normal process that could take 18 months to see all of these team members individually. Patient feedback was extremely positive as they felt "taken care of" and they understood how they had significantly reduced their time and delays required for diagnosis and care.


The exciting outcome was the discovery of 2 patients, family members of a patient that was seen at the clinic, who themselves had dilated aortic roots. One family member is scheduled for surgery and the other put onto a close follow-up program. Neither of these 2 family members were aware that they had aortic problems and the outcome, if not identified by the clinic, could have been very negative.


The clinic is staffed with Doctors form various institutions working under one common model – collaborative multidisciplinary holistic approach.


The team is comprised of: Dr. Ismail El-Hamamsy (Cardiac Surgeon), Dr. Nancy Poirer (Cardiac Surgeon), Dr. François-Pierre Mongeon (Adult Congenital Heart Disease & Noninvasive Cardiac Imaging), Dr. Anne-Marie Laberge (Genetics), Laura Robb (Genetic counselling), Dr. Robert Koenekoop (Ocular Genetics), Dr. Jean-Albert Ouellet (orthopaedics) and Samia Ladjel (team coordinator).

Forwarding This Email to Friends

We would love for you to forward this email to anyone you think might be interested in the happenings of the LDSF, but please only do so using the "Forward this email" link in blue at the bottom of this email. Per the Constant Contact system, if you simply select forward from your email program and the person you send it to tries to unsubscribe, it is you who will be unsubscribed.

In Loving Memory

 

Dane Everhart - March 31, 1993 to April 13, 2012

Dane Everhart, 19, of Fayetteville, North Carolina died Friday, April 13, 2012. A memorial service to remember Dane was held Wednesday, April 18.
read more

 

Tyson Wallis and Olivia Wallis

Tyson Wallis, 30, of Friendsville, Texas, died suddenly on January 18. His story was published and has spread awareness nationwide about LDS. In July, Olivia Wallis, one of his twin daughters passed away.
read the original story published about Tyson and his twin girls
arrow read the family's blog


Our fondest thoughts and deepest condolences go out to the Everhart/Gregory and Wallis families.

AND...

Rosemary

Meet Rosemary

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.

arrow 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 gretchen.oswald@loeysdietz.org

 

Mo

Mo: A Loeys-Dietz

Syndrome Memoir

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.

read more about the book

arrow order it now on Amazon

Heart Pins & Cards

Heart Pins & Cards

ongoing

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

Mission

line
  • Matters Of Heart: To provide an outlet for members of the LDSF community to connect and stay informed with accurate, relevant and timely information.
  • LDSF: The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)(3) non-profit organization based in Baltimore, MD. The LDSF-Canada is a Canadian Registered organziation based in Montreal, Canada. Both organizations are dedicated to: encouraging education about LDS and related connective tissue disorders, fostering research and providing support for patients, parents and families affected by LDS

arrow check our website for additional information

   

Copyright © 2012