matters of heart

november 2014    

One of our goals as a Foundation is to foster research on Loeys-Dietz syndrome. As a patient-focused Foundation, one of the most valuable ways we can help advance research on Loeys-Dietz is by setting up a medical registry, a centralized database that allows for the collection of specific medical information on patients.


A registry will provide researchers with more and better data on patients living with Loeys-Dietz. As is, researchers rely on their own collection of data, using surveys for their sub-specialties and drawing from patients whom they can reach.


A registry would provide data on more patients. Combining data from patients anywhere, around the globe, is particularly important for rare diseases like Loeys-Dietz. It is hard to know exactly how many people live with Loeys-Dietz, but there are an estimated 450 "documented cases" with thousands of others being undiagnosed or misdiagnosed. Having data on more patients means researchers can increase the sample size for their studies and therefore the reliability of their findings.


A registry would also provide data on patients over time. Most of the available data on patients are like snapshots--they capture how patients are doing at a single point in time. A registry would capture data from patients repeatedly, so researchers could learn more about the effects and management of Loeys-Dietz over time.


As a result of a registry, researchers could do more of the kind of research that will lead to better understanding and management of Loeys-Dietz, research that can lead to real improvements in the quality of life of patients.


Setting up a registry is no easy feat. It will require understanding the data that researchers need, exploring different options for reliability (good quality data) and feasibility (easy to use and affordable), getting it set up and running, and disseminating it as broadly as possible. It is a daunting task. But one that will make a real difference to people living with Loeys-Dietz, and therefore well worth our every effort.


Of course, a Loeys-Dietz registry will only happen with your generous support. That is why over the coming months and years, we will be sharing with you our thinking and planning towards setting up the registry, in the hopes that you too will help advance our mission.



#GivingTuesday is right around the corner!

Last year, thanks to our amazing supporters, we raised $5,000 at year end, starting with our #GivingTuesday campaign. With these funds, we were able to publish medical guidelines for Loeys-Dietz syndrome which have been used by families and medical practitioners around the world to diagnose and treat patients.


This year, we are taking on a much larger goal--to create a registry of Loeys-Dietz syndrome patients. In the nearly 10 years since LDS was first identified, research has been hampered by the lack of accessible patient data. 

Our goal is to raise $20,000 by year end, to enable us to take the first of many steps in making this registry a reality. 

Please remember us on Tuesday, December 2nd, and give generously!


Looking for that perfect gift? Please consider a contribution to LDSF in honor or memory of a loved one (see Tribute Gifts). We will notify them that a gift has been made in their honor and will list all tribute gifts in our Annual Report. 


As a parent with a child that lives with Loeys-Dietz Syndrome, please allow me to write to you from that perspective and filter. I think we are in a select group of human beings that know a deeper meaning of being thankful. Think about it, we have kids that are eligible for 'Make-a-Wish'. I know most of us have navigated through some very intense medical situations on a daily basis that no parent wants for their child. EVER. Scout's road so far medically has been a rough one. I'm sure you can relate. Like really, I'm sure you can. Read more.



Tomas Orihuela's Move Your Feet for Loeys-Dietz

As part of our Move Your Feet for Loeys-Dietz project, Tomas Orihuela completed IronMan Florida, raising over $6,000 in the process. Congratulations, Tomas, on an incredible and inspiring accomplishment. A heartfelt thanks to you and all those who supported you through the finish line! 


More information on Move Your Feet can be found here. For other fundraising opportunities supporting the LDSF, contact us at



Halloween Contest

Thanks to everyone who participated in our first ever Halloween costume contest! Great to see the turnout and everyone's incredible costumes. If you haven't seen them, you can check them out here.


It was a tough decision, but the Board of Directors decided that this year's winner is the O'Brien Lemanski Family! Congratulations! Be on the lookout for your prize.


Thanks again to everyone and we hope you will participate in next year's Halloween costume contest!

Welzoo, AmazonSmile & Bravelets

Surfing the internet? Ordering off Amazon? Looking for some unique jewelry? Did you know you can help generate funds for the LDSF with things you already do? Take a moment to see how you can help us raise funds everyday. Learn how to help the LDSF.


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