matters of heart







november 2016   


A MOTHER'S PERSPECTIVE ON LOEYS-DIETZ SYNDROME

This past September in Washington, DC, the Fourth GenTAC Thoracic Aortic Summit was held. There, LDSF past president, Raquel Gomes was asked to speak. She was there to offer perspective and insight to doctors, researchers, and others in the aortopathy community; to help them better understand what it is like to be a parent of an LDS patient. 

It was something that was scheduled long before tragedy struck. Raquel's daughter Gabi passed away of LDS complications late spring. She could have cancelled. Considering the circumstances, it would have been completely understandable. Raquel didn't. She decided to Take Heart.

She gave an incredible presentation that offered not only perspective but also highlights many of the questions we still have regarding Loeys-Dietz syndrome. Questions we hope to answer through the funding of research this #GivingTuesday. 

We have included her entire presentation at the link below. We hope that you wil find her speech as insightful and moving as we did. More so, we hope that this November, you will find inspiration to Take Heart.


#GIVINGTUESDAY


One week till #GivingTuesday and the official start of our end of the year campaign! This year, the Loeys-Dietz Syndrome Foundation is raising funds to support vital LDS research. A crucial part of our mission is to foster research on LDS. The research we hope to fund will help directly impact the lives of those impacted by LDS in a positive way.

If you would like to support our goal to raise $20,000 and help support research that can improve LDS patients' lives, please give generously right here:


Under Gift Designation, select #GivingTuesday. You may also make your gift in honor or in memory of a loved one.
ABOUT US



Have you seen the new LDSF "About Us" video? If not, check it out above. Learn about our mission. See why we have decided to Take Heart.
FOSTERING RESEARCH: MAPPING COGNITIVE PROFILES

The LDS team at Johns Hopkins is looking for 24 volunteers with Loeys-Dietz syndrome (ages 7-30 years) to undergo a  1 hour evaluation to map out cognitive profiles. Although we anticipate the testing in LDS to not show any specific limitations, we are happy to help move research for LDS and other rare conditions forward.  Data is being collected on children/young adults with different genetic syndromes for comparison purposes. The genetics team will work to coordinate these evaluations for JHU patients here for surgery and/or other clinic appointments. If you are traveling for care at JHU in the next 3-12 months, please consider volunteering for this study! 

Please contact Gretchen MacCarrick if your child is interested in participating.

Study information:
Research Project on Cognitive Profiles in Genetic Syndromes.
Johns Hopkins/Kennedy Krieger Institute
Jacqui Weissman MD and Hans Bjornsson MD PHD
 
As we continue to learn more about the genetics of specific syndromes, it is equally or even more crucial to learn about the specific deficits that children and adults with these syndromes struggle with every day. This will not only help us to better understand the children and families we, as providers, all work with, but also to potentially provide therapeutic options in a number of different ways. While every child is a unique individual, understanding what specific cognitive tasks are more difficult for many children with specific syndromes and which tasks are less affected can better help parents and educators provide these children with best possible educational, professional and community resources. Additionally, these cognitive profiles can serve as parameters for future medication or therapy-based treatment trials that are likely coming down the pipeline. We have some preliminary data from certain syndromes that begins to map out the cognitive profiles. However, we need to examine this prospectively in many more patients to make sure it is true. For all of these reasons, we are conducting a research project in which we perform short neuropsychological batteries on children and adults ages 7 and older with known mutation-proven genetic syndromes. All the data from the study is de-identified and used for research purposes only.  Everyone participating provides informed consent after the study is explained in detail. All testing for this study is performed by Dr. Jacqueline Weissman, a pediatric neurologist and neurodevelopmentalist. Dr. Weissman does discuss basic overview information and answers questions for parents and caregivers at the end of the testing. The testing takes less than an hour and is not harmful in any way to the participants and in fact is generally fun for them. Information is also collected about seizures and medications and previous testing.

3rd Annual LDSF Halloween Costume Contest


The 3rd annual LDSF Halloween costume contest was incredible! We loved getting to see all the amazing costumes from the participants!

Congratulations to our 2016 Halloween Costume Contest winners! From left to right; Brooke the Snapchat filter, the Ashfield family as the Justice League, and Chris as death on a dark horse. We will be contacting you for addresses (if we don't already have them) so we can get your prizes in the mail.

We can't wait to see what everyone comes up with next year!
WHAT'S IN YOUR WALLET?

Hopefully it is the LDSF emergency alert card!   

We hope this tool will help patients/families to always have on hand a source of information regarding Loeys-Dietz syndrome, as well as their personal medical information. We think this could be a very valuable addition to your wallet, purse, or pocket.   

You can download the card and watch a short instructional video at the link below.   





OPPORTUNITIES TO TAKE HEART  

Devyn's Move Your Feet for Loeys-Dietz - already has raised over $3,000! The event is being held in Texas on December 3rd, so please click the link below to read her story and make a gift to support her family in helping to spread awareness. CrowdRise page





More events and opportunities are on their way. Follow us on Facebook to make sure you don't miss any of them!

WITH THANKS   

Since the last newsletter, LDSF families have hosted events across the US, helping to build awareness and raise funds for research. We raised more than $10,000 from the following events: Connor Wilson's 5th birthday (West Virginia), Pass the Boot for Loeys-Dietz organized by Tina Gee (Georgia), Dining for Loeys-Dietz organized by the Padilla family (Illinois), Abby's Amazing Race organized by the Kemmer family (Arkansas), Pots for a Purpose organized by the Kasper family (Illinois), and a potluck in honor of Nicole Reiner hosted by her aunt, Stacey Levine (Florida).  

We are grateful to the Kasper family for hosting the 2nd Annual "LDS Families from Around the World"
holiday tree trimming event at the Brookfield zoo last weekend. If you are in the Chicagoland area, please stop by. 

Our special thanks to the family of Barbara Ann Quade for designating the LDSF to receive donations in her memory.



If you have an idea for an event, please contact us at info@loeysdietz.org and we'd be happy to work with you on it!
 


STAY CONNECTED

Like us on Facebook   Follow us on Twitter