Welcome to our Loeys-Dietz Syndrome fundraiser page! In May, we are taking part in the Pittsburgh Race Weekend on May 4 and 5, 2019 to raise money and awareness for the Loeys-Dietz Syndrome Foundation. With Maeve Kelly running the full marathon, Jason Clingerman running the half marathon, Rachel Clingerman and Brendan Donohue running the 5K, and Nate Clingerman running the Toddler Trot, we have someone on our team participating in every race!
The Loeys-Dietz Syndrome Foundation is a cause near and dear to all of us because of its impact on the health and lives of people that are very special and important to us, and, without it, the future of their health would be much more uncertain. Loeys-Dietz Syndrome (LDS) has affected Rachel's family, undetected, for likely generations. Her mother, Deborah Little Ports, passed away from complications of LDS, which was undiagnosed and, even if it had been, little to nothing was known about it at that time. Subsequently, Rachel and her sisters have managed to turn the wake of this tragedy into something good, and have been integral to the research at Johns Hopkins University. With their participation, great strides have been made in discoveries about the disorder, including the pivotal isolation of the LDS gene, but information about the natural history and management of Loeys-Dietz Syndrome continues to evolve.
We now know that Loeys-Dietz Syndrome is a genetic disorder that affects the connective tissue in the body. Individuals with LDS exhibit a variety of medical features in the cardiovascular, musculoskeletal, skin and gastrointestinal systems. It manifests itself in a number of ways; therefore, no two persons with LDS will have identical medical characteristics. However, Loeys-Dietz Syndrome can cause sudden emergency situations, such as spontaneous collapsed lung, retinal detachment and hollow organ rupture, and in the worst cases, can be fatal, as it is an aggressive aneurysm syndrome that significantly increases the risk for aortic and arterial dissection, or tears in the lining of blood vessels and arteries.
Fortunately, with the help of organizations like the Loeys-Dietz Syndrome Foundation, the management and care of individuals that have been diagnosed with LDS is developing and improving. However, there is much more to do regarding the understanding of LDS, and it is the hope of the Loeys-Dietz Syndrome Foundation that increased education on the disorder will lead to earlier diagnoses, more effective therapies, and improved medical outcomes for individuals with Loeys-Dietz Syndrome.
To read more about Loeys-Dietz Syndrome, please visit : http://www.loeysdietz.org/