Connective Issues Winter 2018
"Sure, I would love to cure cancer," he says, reflecting on the unusual path his career has taken. “But if I just help Montie and Blake and Steven and my other patients—the people who I care for and for whom I care—that will be enough." – Hal Dietz, MD, 2012
Contents RESEARCH 3–6 QUALITY OF LIFE 7 LOEYS DIETZ SYNDROME 8 RESOURCES 10 MEDICAL INFORMATION 12 TRIBUTES 15 resource for families and healthcare providers, and raise public awareness. We will not rest until we have achieved victory. Learn more and get involved at Marfan.org . The Marfan Foundation creates a brighter future for everyone affected by Marfan syndrome and related disorders. We work tirelessly to advance research, serve as a
Why is it so important to help find a cure, provide a novel treatment approach, or improve quality of life for
a rare disorder that impacts 1 in 5,000 people? It is important because the science and medical communities, which are the very lifeblood of The Marfan Foundation, have an unabashed passion for everything Marfan and related disorders, as expressed by Dr. Dietz. To say the physician/patient relationship is unique at The Marfan Foundation would be a huge understatement. In fact, it is simply amazing. And, this com- mitment extends to the family, the community, and the drive for accelerating science and treatment which today is supported by over $1.5 million in current Marfan Foundation research funding. This issue of Connective Issues highlights important research, such as a study by Dr. James Foster that looks at very rare types of Ehlers Danlos Syndrome that affects children born with fragile, easily bruised skin and weakness of tissue, leading to a number of debilitating conditions. Overall, we funded nine new research grants to scientists, ranging from seasoned investigators to young researchers like Dr. Foster, who we hope will be the great leaders of the future. Connective Issues also highlights the need for research participants for studies, such as the one by Dianna Milewicz, MD, PhD, that aims to learn more about the genes that predispose people to thoracic aortic aneurysms and acute aortic dissections. Enrolling in a study is another easy and wonderful way to support the work of The Marfan Foundation. Meanwhile, as research paves the way to the future, our Help & Resource Center, Annual Conference, Regional Symposiums, Camping Program, support groups, and ever expanding Quality of Life program provides our growing community with the resources and opportunities they need to live a long and successful life, in the arms of a truly extraordinary community. No one with Marfan syndrome or a related disorder should ever feel lonely as we have the most active, engaged, knowledgeable and supportive com- munity of any organization of our type. I truly hope your 2018 will be filled with much happiness and joy! Stay well and know we are here for you virtually every hour of every day!
CONNECTIVE ISSUES WINTER 2018 VOLUME 37 | NUMBER 1
All the best,
THE MARFAN FOUNDATION 22 MANHASSET AVENUE PORT WASHINGTON, NY 11050 516-883-8712 | 800-8-MARFAN WWW MARFAN.ORG
Michael L. Weamer President & cEO
ON THE COVER: JAMES FOSTER, PhD, JOHNS HOPKINS SCHOOL OF MEDICINE, 2017 VICTOR A. MCKUSICK FELLOWSHIP GRANT RECIPIENT.
This issue of Connective Issues is supported by an educational grant from the Chu and Chan Foundation.
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