matters of heart

january 2018   

We hope that your calendars are marked for a trip to Baltimore this July 6-8th for our LDSF Conference! 

We hold the conference every two years, and it is a great time to connect with other families, physicians and researchers in the LDS community.  Registration and hotel links will be available in February!

But, don't just take my word for it. Kelly Toohey writes about her experience at Conference: 
What the LDSF conference has meant to me.   Hmmm... at first I was reluctant to go.  Gretchen encouraged me but inside
I just didn't want to face any more of LDS than was necessary.  I'd been traveling to Johns Hopkins for all LDS related care since 2005 and felt I already had any up to date medical information I needed.  What else could I possibly get from the conference?  I neglected to think about meeting with other LDS adults that shared similar medical issues and just being around others who understood the physical and emotional challenges we face.  In a few break out sessions Gretchen kicked around a box of tissues to those of us that got emotional and were cracking as we discussed deep feelings and concerns related to our struggles.  We all shared something.  Still, I hung back and didn't socialize too much outside of the sessions.  I missed the 2014 conference due to medical issues but decided to hold a dinner fundraiser in 2014.  In 2016 Dave and I attended again thinking I won't get that much out of it, I go to Hopkins for everything.   This time it wasn't what I got out of it, it was what I gave to others.  I spoke with many other parents about my medical issues, how I was diagnosed, my childhood symptoms, my current struggles, what I do as an adult as far as activities, my job, etc.  What I had heard from a few people was that I gave them hope and inspired them.  I was shocked.  This time it wasn't about what I could gain from attending the conference, but instead what I could give.  It was also great putting names to faces and connecting with those that I've only known from the Internet.  As a 52 year old with LDS I do my best to educate, raise awareness and give hope to the younger ones with LDS.  I give an LDSF brochure to every doctor I see in NJ.  For me the conference isn't about what I can take away, but what I can give.  I look forward to the 2018 conference, catching up with those I met in 2016 and meeting new people as we continue to put one foot in front of the other and provide support through the ups and downs of life with LDS.  

A tremendous THANK YOU! to all our incredible and generous donors, not only at end of year, but all throughout the year. Thanks to your generosity, more than $40,000 was raised from #GivingTuesday until the end of the year, allowing us to meet our $25,000 matching research grant challenge.

Dr. Elena MacFarlane will presenting her LDS research at Conference. Here is some background to help you get to know Dr. MacFarlane: 

"I am deeply thankful for the very generous support I have received from the Loeys-Dietz Syndrome Foundation. I am humbled and inspired by the courage, determination and strength that parents and children display everyday as they cope with the difficulties and sorrows associated with LDS.   
Your generosity 
is a testimony of the redeeming  power of hope and love"
How did you come to work on Loeys-Dietz syndrome?
I first became interested in LDS upon completion of my graduate studies and while seeking the opportunity to work on a research question that could integrate my long-standing interest in the regulation of signaling networks with a desire to conduct research that was relevant for patients. Upon reading the work of Dr. Dietz and his collaborators, I became intrigued by the observation that loss-of-function mutations in TGF- beta receptors caused a paradoxical increase in TGF- beta signaling and aneurysm progression in LDS. I decided to join the Dietz laboratory because I wanted to understand the mechanisms behind this paradox, knowing that it would have profound implications for the clinical management of this disorder. 

I have been extremely fortunate to have the opportunity to start my independent career at the Institute of Genetic Medicine at Johns Hopkins University. Although establishing a new laboratory and research program is always challenging and, at times, intimidating, I have been able to leverage my experience and the support of great colleagues, friends, and mentors to build a strong foundation for the future. I look forward to submitting a manuscript describing our latest findings before the end of this calendar year, and to fully dedicate my time to new avenues of investigations opened by our recent work in the following year.

What drew you to basic science research?
I grew up in Sanremo, a small town on the Mediterranean coast in northwestern Italy; the French Riviera is a few miles to the west and the CinqueTerre wine region a few miles to the east. I "blame" our family pediatrician for my interest in biology and medicine. He was an old-fashion doctor with a penchant for story telling. When I was sick, he would visit us at home and, between an auscultation and a temperature-check, he would share anecdotes about the many patients he had seen over the years, including those he had helped as a young doctor in World War II. Appointments with him would indeed take hours (such a difference from how medicine in practiced these days, especially in the USA), but 
I thoroughly enjoyed listening to him tell his stories and explain the mechanisms behind various diseases. It is in part thanks to these experiences that I decided to pursue a career in science, and eventually, move to the United States to continue my education. I cherish the creativity and intellectual freedom of academic research, and the opportunity to understand "how things work", and how to fix them when they go wrong.

What do you see as next steps or unanswered questions in TGF-beta research?
I believe that a crucial step in understanding the role of TGF-beta signaling in disease will come from the investigation of cell-specific responses to specific disruptions of this pathway, and from unraveling the role that the developmental origin of a given cell plays in shaping the way in which it responds to the disruption, and how therapies targeting these differences can be used to prevent  vascular pathology.

In an effort to create more engagement and raise awareness for our #takeheart campaign, we'd love to get more submissions of photos and a few sentences about why you choose to take heart in supporting the Loeys-Dietz Syndrome Foundation. If you'd like to help out, please email with your photos and information, and your submission may appear on our social media pages. Thanks for all of your help!