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Matters Of Heart - Spring 2012
Author

HELLO!

Welcome to the new, online version of Matters of Heart - our regular newsletter publication. You'll still find all of our wonderful information, just in a different format. We hope you'll enjoy.

We hope you're planning to join us this summer in Baltimore for our 2012 Conference and a time to make new connections, learn more about Loeys-Dietz syndrome and share your stories. While we will have wonderful opportunities for our kids to connect and parents to learn and find support, it is also our priority to discuss and address the needs of our growing adult population. The fact that we have this need to develop resources for adults is a source of hope and inspiration. When individuals were first diagnosed years ago, our outlook was somewhat bleak, but now, with early diagnosis and proper surveillance and management, we have many individuals in their 40s, 50s and beyond. The LDSF is dedicated to understanding what issues are involved with “growing older with LDS” and we look forward to great discussion on this topic during our summer Conference.

As more and more families are being diagnosed with LDS, they are finding increased community and support on our Forum, Facebook page, Twitter and individual connections. Thank you to everyone who posts and shares stories and experiences. Every week, we receive an email from a new family who has found hope in those who have gone before them in the journey of a new, rare diagnosis.

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

Baltimore Inner Harbor

Conference 2012

June 29 to July 1, Baltimore, MD

Our conference schedule is out and registration is open until May 31. Sign up today to spend a weekend with the top LDS medical professionals in the world and other individuals and families navigating the journey of LDS.
register online
visit our conference page

Corporate Conference Sponsorships

Corporate sponsorships at various levels are still available for our upcoming conference. For a copy of our sponsorship package or for more information, email conference@loeysdietz.org.



Conference Silent Auction
We will have a silent auction portion during our luncheon on Saturday at conference. To make this event successful, we're seeking items from near and far and request members ask businesses, friends and neighbors to provide gift items, gift certificates, etc. for the auction. Our auction is only as fun as the items donated, so please contribute. Members not attending conference are also invited to make donations.
download a donation form

Michelle, Ryan & Bodhi Swindle

Heart Renderings - Michelle Swindle

Michelle and her two-and-a-half year old son, Bodhi, both have LDS. Here is part of her story.

Ask my mom and she'll tell you straight up what she thinks about me... I am the most strong-willed, stubborn, determined person she knows, and when I have my heart set on something, I do it. So when I was diagnosed with Marfan syndrome by physical exam as a teenager, I never let it stop me from doing whatever I wanted. I had regular echos and continued to see my GP and that was it. I didn't do any research; I didn't tell anyone I had it; I didn't try to understand how it could possibly affect me and the lifestyle I wanted for myself.


I focused on my career as a zookeeper, even though I knew how much physical labor the job required and the amount of stress it puts on one's body. As far as having kids, I always knew I was going to have them, but I wanted to succeed in my career first, and so I did. That is, until late 2007, when it was discovered I had a massive blood clot in my brain. That incident and my recovery from it changed the course of my life, and I put my dream career behind me (or at least on hold for the time being).


My husband, Ryan, and I started talking about the possibility of children. At 29, I felt this sudden internal desire so strong I could not ignore it. "I have to get pregnant! I have to have a baby now!!," my insides screamed loud and clear. I got the go ahead from my cardiologist, who said it would "technically" be a high-risk pregnancy but that he didn't see any reason why I shouldn't get pregnant.


To the relief of my screaming insides, we were pregnant almost instantly. I could not wait until I had morning sickness... that seemed to be the comforting proof I needed to believe that this was actually happening... I'm having a baby!
read more

LDSF Annual Report

2011 LDSF Annual Report

Our 2011 annual report outlines what the LDSF accomplished last year and shows some of our 2012 goals, as well as thanking all of our generous donors.
view the annual report

 


Newly Published - March 27, 2012

An article was published in the Genetics Home Reference about LDS and the genes that cause it.
read the article

 

In the Literature

Much attention is paid to the aortic root in Loeys-Dietz syndrome, as this is the most common site of aneurysms detected in individuals. As individuals age, aneurysms can also be detected in other portions of the aorta as well as throughout the arterial tree, highlighting the importance of routine surveillance of the vasculature through MRAs and CTAs.


In this newsletter we focus on three papers published in the medical literature recently on repair of aneurysms throughout the body. The important take-home messages are:


- Surgical intervention of different types are well-tolerated in individuals with LDS, although longer term follow-up and study is needed.
- It's important to continue widespread vascular imaging throughout life.
- More and more physicians/institutions are gaining experience in intervention in our population.


For any of you who may recognize yourself in these case reports, we thank you for participating in the publication of your surgeries as it helps to educate other medical professionals about management in LDS.
read the synopsis of the three articles

Multidisciplinary Clinics - Canada

The objective of multidisciplinary clinics is to shorten the time required for a diagnosis and to create a holistic, collaborative team approach to care for patients with LDS and other connective tissue diseases.


The objective is to create a seamless transition for pediatric patients that "graduate" out of the pediatric system at age 18. Research indicates that these "graduates" are often fed up with the healthcare system since they have had many procedures and have spent a great deal of time in the hospital while growing up.  As such they tend to drop off the radar after they "graduate" and re-enter the system as an adult thru the ER in a deteriorated health status.  Our goal is to provide them with continued care that avoids this problem and leads to a longer life and better quality of life as a result of the transition into the adult system.
read more

ThumbnailRare Disease Day - Feb. 28 to 29, 2012

During the celebration of Rare Disease Day in February, we were reminded about the power of advocacy. Every day, you advocate for yourselves and your loved ones with medical professionals, schools, communities and workplaces. We are in constant awe of how you do so continuously with dignity, grace, and joy. Even in the midst of insurance fights, negotiations about sports and worries about surgeries, each of you inspires us with your ability to “find the silver lining” and give generously of your spirits, time and resources.


US: The LDSF particpated in the FDA's Rare Disease Day conference and learned a lot about the orphan drug research pipeline.


CANADA: The LDSF Canada participated in CORD (Canadian Organization of Rare Diseases) awareness efforts on Feb. 28 to 29 in Ottawa with members of Parliament in the Canadian Federal Government. In an effort coordinated by CORD, over 40 members of parliament were presented with rare disease issues and the need for a rare disease framework. Canada is the only developed country in the world without a rare disease framework.LDSF Heart

Research Opportunities

 

Magnetic Mini-Mover Procedure

In an effort to make the pectus excavatum operation better for patients, pediatric surgeons at University of California, San Francisco (UCSF) have developed a novel method to correct the chest wall defect without the need for major surgical reconstruction and hospitalization for pain management.
read more

 

Cellular Mechanisms Study

The cardiology and vascular team at British Columbia Children's Hospital in Vancouver is beginning a new study entitled "Cellular Mechanisms Underlying Vascular Dysfunction and Aortic Aneurysm in Marfan syndrome." This study will give much more information about the workings of connective tissue disorders at the cellular level.
read more

AND...

Pins For Peyton & Gracie Too

Pins For Peyton & Gracie Too

May 19 - Portage, Ind.

Fourth Annual Bowling event - $30 for Bowling, $15 for Non-bowlers. Price includes Bowling, Shoe Rental, Food, Raffle prizes and more!

visit the Pins For Peyton site

To the Links For the LDSF

To The Links For The LDSF

July 20 - Grafton, WI

First Annual Golf event - $160 to golf and dine, $50 for dinner guests. Win a chance to play with Steve Novak, forward for the New York Knicks.

read more

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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

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  • 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