A mission to honor the memory of Emersyn Ray Aurich and others and launching an initiative to understand – and beat – the severe end of the LDS spectrum.
Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Learn more about Dr. Dietz and is important research by clicking the link at the bottom of this blog.
A new set of rules...
When Emersyn Aurich was born in 2004, doctors caring for people with connective tissue disorders had a problem. A big problem. General rules had been established for the cardiac care of people with a specific medical condition called Marfan syndrome that helped predict what blood vessels would show signs of weakness (called aneurysms) and when these aneurysms were at risk to tear or rupture (called dissection). However, these rules were not working well for a sizeable group of people thought to have this condition. Aneurysms were occurring where they shouldn’t and were dissecting at atypically young ages or small dimensions. Ultimately, we learned that this subgroup of people could be distinguished from those with Marfan syndrome based on physical features and genetic testing. New rules were established for the care of people with this condition (now called Loeys-Dietz syndrome or LDS).
A more aggressive form...
We have another big problem. A subset of people with LDS are not obeying the new rules. They are requiring a first surgery for aortic aneurysm in early childhood despite aggressive use of medications that appear to be working well for others. They all have required a second surgery in childhood for another aneurysm, most a third, many a fourth. The aorta appears very prone to tear, and sometimes rupture causing sudden death – as sadly occurred for Emersyn at age 16. It appears that there is a particular place that a DNA change (called a mutation) occurs in association with this aggressive form of LDS. Not only is this the most severe LDS mutation – it is unfortunately also the most common. We need to understand why this mutation is so severe, how it leads to exceptional weakness of the arteries, why young women with this change seem to be at greatest risk, and why some people (precious few) appear to do well despite having this mutation.
A new way to test and research...
The way that we know how to try to answer these critical questions is to create an animal model with the same DNA change in the same gene through genetic engineering. In this manner, we can breed large numbers of mice with the identical DNA change, study their cells and tissues in the laboratory, develop and test hypotheses regarding the mechanism of severe disease, learn nature’s secrets regarding how to protect some animals with this change (plausibly through changes in other genes that “modify” the disease), and develop and test new treatment strategies that leverage this new knowledge.
A Final Word From Dr. Dietz
It is our privilege to partner with Emersyn’s parents Bob and Dana, her sisters Morgan, Payton and Regan, and their extended family and extensive circle of friends to honor the memory of Emersyn and others similarly affected by launching this initiative to understand – and beat – the severe end of the LDS spectrum.
Im a 43yr old L.D.S.Type3 survivor
I participated in a study being done by the NIH and after my aortic root replacement surgery in 2009 they studied my defective aorta tissue to figure out how to make a simple test for this terrible disease.
Im sorry for your loss and I hope my participation in this research can save lives💯