matters of heart







october 2015   
NIH LAUNCHES STUDY ON LOEYS-DIETZ 

Dr. Pamela Guerrerio at the National Institutes of Health (NIH) is conducting a research study to learn more about Loeys-Dietz Syndrome and other related genetic syndromes, including Shprintzen-Goldberg syndrome.  

Evaluations may involve consultations with specialists (from Allergy, Immunology, Endocrine and Bone Health, Dentistry, Craniofacial Team, Occupational and Physical Therapy, Adult Gastroenterology, and/or Pain and Alternative Medicine) and may include a blood draw, answering questionnaires, and radiology studies. 

Patients will not be charged for any service offered, and medical insurance is not required. The NIH will pay for travel and accommodations for any necessary follow-up evaluations. Interested patients should contact Hyejeong Bolan at 301-761-5660 or email her at hyejeong.bolan@nih.gov to learn more about the study.

PARTICIPATE IN THE NIH STUDY

We couldn't be happier about Dr. Pamela Guerrerio's LDS study at NIH--more bright minds and more resources to help us better understand the effects of LDS and how to manage them. Hard to beat.

Now we need you to participate. The more LDS patients participate in the study, the more reliable will be its findings. 

What's it like to participate in the study? See Laura Papun's blog for her family's recent experience at NIH--from logistics, tips, and the insights they walked away with. 

CONFERENCE 2016
The value of conference: one family's perspective

After my husband (Rick) and son's (Eddie) Loeys-Dietz Syndrome diagnosis in 2008, I came to realize the internet is a blessing and a curse. I remember those early days of googling, fearing, and obsessing when we knew very little about the disorder.  Each internet search just brought more fears.
 
In contrast, I also began to find other people in the Loeys-Dietz community through social media and the message boards on the Loeys-Dietz Syndrome Foundation website. We began to connect and build online friendships.  It was nice to know there were others who could empathize, but everyone was so far away.  Our family felt so isolated.  No matter how we tried to stay positive, it felt as if a death sentence had been imposed.
 
Upon hearing of the Loeys-Dietz Syndrome conference in 2012, we knew we had to do whatever it took to get our family there.  It wasn't easy, but it was totally worth it. Read more.

Counting down to conference .... Just 8 months to go!

There are hundreds of reasons to attend the LDSF conference in 2016, such as meeting the LDS specialists, learning about research studies, or meeting other families.  The LDSF would like to add to these reasons by announcing the Friday afternoon activity.  It will be a tour of the National Aquarium.  What better place to meet new friends than on Shark Alley?

Your aquatic adventure will include a Dolphin Discovery, exploring the Atlantic Coral Reef, and a journey through the Amazon River Forest.  Hands-on experiences of the Living Seashores will leave you longing for sandy beaches and crashing waves!  Watch closely for the 2016 LDSF conference agenda, because you don't want to miss this exciting group outing on June 24, 2016. 
MEET NOAH

In a quiet room you may find delight in hearing Noah's steady tick without a stethoscope coming from deep within the walls of his long thin torso. To nurses and medical staff, it is an opportunity to listen and learn from a very unique valve, in a very young child, in a very rare case. To us, it is a constant reminder of the blessing that we have been given. November marks the two year anniversary of Noah's second aortic root replacement and the placement of his new aortic Onx valve. 
 
Noah is 11 years young and has Loeys Dietz Syndrome type 2. He was diagnosed in 2005, just three short months after his birth.  Coincidentally, this is the same year this syndrome finally was given a name and described by Dr. Bart Loeys and Dr. Hal Dietz.  
Read more.
OPPORTUNITIES TO TAKE HEART

We have two great opportunities for you to support the LDSF this coming Saturday, October 24:

"Abby's Amazing Race" in Marvell, AR
The Kemmer Family will be hosting the second annual "Abby's Amazing Race" 5K and fun run in Marvell, AR. If you would like to particpate or learn more, you can find them on Facebook.

Chicago "Move Your Feet for Loeys-Dietz"
A group of families in the Chicago area have decided to take heart with a "Move Your Feet for Loeys-Dietz" event at this year's Pumpkins in the Park 5K on October 24th. You can learn more about their event and support them on their CrowdRise page. A huge thank you and good luck to all those participating!


LDSF Halloween costume contest
It's October which can only mean two things: you can get anything pumpkin flavored, and it is time for the annual LDSF Halloween costume contest!

The Foundation is again hosting our online Halloween costume contest! Send pictures of your ghoul or goblin to info@loeysdietz.org, or message them to us on Facebook, anytime before November 3rd. We are going to be posting them to our Facebook page! The winner will receive a haunting prize from the LDSF!

WITH THANKS!

Thanks to all the families investing their precious time and energies towards two phenomenal fundraisers this coming weekend. Their efforts and the support of families, friends, and others in their community have already raised impressive funds for the LDSF:

Contributions to the Chicago area's "Move Your Feet for Loeys-Dietz" are already at $22,000!

And contributions to Abby's Amazing Race are already at $8,000!

And that's on top of all the awareness raising and support that comes from such community-based events. Thank you everyone for Taking Heart!

If you are interested in fundraising, contact us at info@loeysdietz.org.
HELP US EVERYDAY
Still not signed up for AmazonSmile?

Signing up for AmazonSmile is easy. Simply go to smile.amazon.com and select the LDSF as the charitable organization to receive donations from eligible purchases. Amazon will remember your preference. You just need to remember to shop at smile.amazon.com (we suggest you bookmark it!). From then on, whenever you need anything from Amazon, just browse through AmazonSmile and Amazon will make a donation to the LDSF. Ta-da!



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