Matters of Heart: September 2018
Meet the LDSF Board of Directors: Gretchen MacCarrick
I feel you like all have been inundated with my musings and pleas over the last 11(!) years of Foundation work, but it is my "Meet the Board" turn, so here goes.
My relationship with the Foundation goes back to 2006 and the genetic discovery of TGFBR1 and TGFBR2 mutations causing Loeys-Dietz syndrome. Dr. Loeys and I started at Johns Hopkins somewhat around the same time; he to get more connective tissue research and clinical training with Dr. Dietz and colleagues, and me as my first job out of graduate school. I first started seeing patients clinically in general genetics clinic, then transitioned to skeletal dysplasias and connective tissue disorders. Of course, this was back in the day where we rarely ever did any genetic testing for Marfan syndrome. I liked how we could make a difference in people's lives through diagnosis, medication, lifestyle and surgical counseling. Thus, I decided to join Dr. Dietz full time. It was quite a trip to contact some of our families who had given research samples over the past 5-10 years and say "we found the genetic cause of your aneurysm...It's a VERY newly described condition called Loeys-Dietz syndrome."
Along with Beth Utz and many other dedicated families, the decision to form the Loeys-Dietz Syndrome Foundation evolved to meet the educational and support needs of our families. It's been quite a ride! I am very proud of all the volunteer hours that all of our BOD, fundraisers, run/walk participants, video interviewees, story tellers, editors, conference committees (ie. ALL OF THE JOBS!!) have put in to build this community. And, I'm especially proud it's a place where people feel they get quality information.
I have to say, a lot of times, I only understand about 10-20% of lab meetings about the latest TGFbeta research, but it's been a great experience getting to work alongside such a dedicated group of trainees in the Dietz lab, and especially to collaborate with Hopkins physicians who are truly so smart and always open to my "can you please help me" requests. I would say to our friends overseas that inquire about starting a LDSF in their country (and you can ask our Canadian friends!), it's really hard work, but it's worth it. The friendships, the flow of accurate medical information, the ability to support research (either financially or through participation) are all positive side effects of creation of the Foundation.
For me, I've gotten to participate in so many lives through the Foundation; seeing all my kiddos transition to adults and starting their own families and careers when the cards seem stacked against them, brings me so much joy. I would encourage every person to reflect on your time and talent and see how you can get involved. I promise you won't be sorry!
We know headaches can be a big problem for some of our LDS community. Please take 2-5 minutes to answer a few basic questions (and if you don't have headaches, please also click on the link and choose "no!")
Have a little one that needs help preparing for an MRI?
Check out Noah Padilla's book "The Tunnel Test!" Does your child have an LDS project to share!? Let us know at firstname.lastname@example.org!
Interested in an easy way to support LDSF?....Set it and forget it!
We are still looking for a few more donors in our "recurring donor" campaign! Super easy, just set up an automatic monthly charge through our donation platform.
https://loeysdietz.wedid.it/ (Just select pull-down to monthly or quarterly!)
Thanks to all our generous donors that help raise funds to support conference, research and other activities!