Connective Issues - Winter 2020

By Reed Pyeritz, MD, PhD, and Jane Tumpson In 2018, Dr. Reed Pyeritz and his wife, Jane Tumpson, established The Dr. Reed Pyeritz and Ms. Jane Tumpson Marfan Conference Physician Travel Scholarship. In this issue, they describe the early days of The Marfan Foundation and why they created this scholarship. Way back in the late 1970s we realized that folks with Marfan syndrome had no organization they could turn to for information and support. Dr. Victor McKusick at Johns Hopkins was the first medical geneticist to study Marfan syndrome in depth, and passed his patients and his research to Reed. We organized a small meeting of Reed’s patients, their families, and some medical colleagues and we met in the parlor of Dr. McKusick’s home in Baltimore. What grew out of that meeting was the National Marfan Foundation (now The Marfan Foundation). The early membership specified three goals: improve the care of people with Marfan syndrome; contribute to research; and, develop educational material for patients, professionals, and the general public. These efforts were advanced substantially by the creation of a professional advisory board, comprised of physicians, genetic counselors, and social workers, all dedicated to supporting the Foundation. This professional advisory board (PAB) was composed of 12 people, including a nurse and a social worker who both had Marfan syndrome themselves. What any new organization needs to survive and thrive is funding, and we admit that the Foundation struggled for many years in that regard. Fortunately, eventually enough support developed to expand the Foundation and the PAB. These efforts were aided immeasurably by Priscilla Ciccariello (now the Foundation’s chair emeritus) and her friends in New York. PAYING IT FORWARD We are absolutely delighted to see that the Foundation has evolved and now welcomes individuals and families with other related conditions. Moreover, the dedicated staff and committed health professionals have grown in number, experience, and participation.

p Dr. Reed Pyeritz and his wife, Jane Tumpson

We are absolutely delighted to see that the Foundation has evolved and now welcomes individuals and families with other related conditions. Moreover, the dedicated staff and committed health professionals have grown in number, experience, and participation. The PAB now consists of 28 members, including eight who were members from the earliest times. Many health professionals, in addition to those on the PAB, have been instrumental in providing consultations at many medical centers and expertise at local and national annual meetings. But we recognize that, as we and some of our colleagues age, there is an important need to perpetuate professional expertise. There needs to be a fluid stream of cardiologists, medical geneticists, cardiothoracic surgeons, pulmonologists, ophthalmologists, and other specialists to focus on Marfan syndrome and related conditions. Some of our young colleagues may be interested, but simply have neither the encouragement nor the wherewithal to participate. We recognized this dilemma and decided to fund one young health professional each year to attend the Foundation’s Annual Conference. This individual will work beside one of the experts in the clinic the day before the conference. She or he will spend the next two days participating in the educational sessions, both to learn and

12

Marfan.org