You came here to learn about me. I can easily tell you about me. But I first find it more interesting to tell you who I am. And even as I start that, I am aware of an inability to articulate this! I am passionate, energetic, authentic, and generous. I love life and have a tremendous desire to alleviate suffering. I am learning to be more deeply present to myself, my loved ones, and the people I serve. I am opening more to multiple levels of experience – inner and outer. I am giving each experience more time and space.
I have been an entrepreneur all of my life. As early as I could remember, I sought creative solutions to problems. Some of this was related to a challenging home life, in which I refined certain talents for managing the complex interactions of my family, to put it mildly. Some of it was related to an innate scrappiness both my husband Pat and I have, an ability to take something and make it more, make it better. That could be a ‘fix-it-upper’ house, building a car out of junk yard parts, or our kids’ diagnosis when it came in 1994. You can read more about that here and here, or watch my TEDMED video.
These days, I still have great passion for the nonprofit for the kids’ condition, pseudoxanthoma elasticum (PXE), PXE International, and my major work in the world at Genetic Alliance. Even more these days, I love spending time with Pat, cooking wonderful meals, drinking good wine, gardening, traveling, paragliding, hiking, running, and doing CrossFit. A visit from my daughter and her wife means a wonderful evening of great discussion and good humor. I love seeing my son and his wife, though given that they are in Atlanta, it is less often than we would like.
I am also recently very excited by engaging in Gestalt Awareness Practice. This gentle form of being present, with an open heart and open mind, has opened me to many more choices and much more energy. I love the intrapersonal exploration, meditation, and the company of others seeking to be aware and be mindful. I have become a student of the practice.
In the day to day, I am President and CEO of Genetic Alliance, which seeks to find a place for the lived experience of the people who suffer from illness and disease in the biomedical research and services enterprises. Genetic Alliance works to provide programs, products and tools for ordinary people to take charge of their health and to further biomedical research.
As ‘just a Mom’ with a master’s degree in Theology, with my husband Pat, I cofounded PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE), in response to the diagnosis of PXE in our two children in 1994. We co-discovered the ABCC6 gene, patented it to ensure ethical stewardship in 2000, and assigned their rights to the foundation. We subsequently developed a diagnostic test and conducts clinical trials. I am the author of 150 peer-reviewed papers, of which 30 are clinical PXE studies.
In my focus at the forefront of consumer participation in genetic research, services and policy, I serve in a leadership role on many of the major international and national organizations, including the Precision Medicine Initiative Cohort Advisory Panel; Accelerating Medicines Partnership; the Cures Acceleration Network Review Board, and the Advisory Council, National Center for Accelerating Translation Science, NIH; National Academy of Medicine Roundtable on Genomics and Precision Health; the PhenX scientific advisory board; the Global Alliance for Genomics and Health; the International Rare Disease Research Consortium Executive Committee; and as Founding President of EspeRare Foundation of Geneva, Switzerland. I am co-founder of the Genetic Alliance Registry and Biobank. I am on the editorial boards of several journals, including Genome, and as Patient Engagement Editor for Genetic Alliance’s official journal Genetic Testing and Molecular Biomarkers, and as Chief Patient Advisor for Clinical and Translational Science. I led the coalition that was instrumental in the passage of the Genetic Information Nondiscrimination Act. I received an honorary doctorate from Iona College for my community engagement work in 2006; the Research!America Distinguished Organization Advocacy Award and an inaugural member of Disruptive Women in Health Care in 2009; and the Clinical Research Forum and Foundation’s Annual Award for Leadership in Public Advocacy in 2011. I was named one of FDA’s “30 Heroes for the Thirtieth Anniversary of the Orphan Drug Act” in 2013. I am co-inventor of the Platform for Engaging Everyone Responsibly (PEER). PEER received a large grant from the Robert Wood Johnson Foundation in 2014. PEER undergirds the Community Engaged Network for All (CENA), a PCORnet member funded in 2013 for Phase I and in 2015 for Phase II. I am Co-PI of the PCORnet Coordinating Center and Chair of the PCORnet Engagement Committee. I was a member of the Blue Ribbon Panel’s Working Group on Enhanced Data Sharing for the Cancer Moonshot. I was named a National Associate of the National Research Council (the home of the National Academies of Engineering, Sciences, and Medicine) for my extraordinary service and received the Health 2.0 Health Activist award in 2016. I was named an Ashoka Fellow in 2009.
I am delighted to be given many opportunities to influence the healthcare system. I often comment that I am just a ‘tweaker’, I have not created the revolution I hope to catalyze. And, perhaps I have moved the needle enough for the next round of advocates to catapult!
Honors and Awards
2005 Honorary Doctorate for community engagement, Iona College
2007 1st Annual Patient Service Award, UNC Institute for Pharmacogenomics and Individualized Therapy
2009 Inaugural Disruptive Woman in Health Care
2009 Elected Ashoka Fellow
2010 Research!America’s 2011 Paul G. Rogers Distinguished Organization Advocacy Award
2011 Clinical Research Forum’s Public Advocacy Award
2012 Spirit of Empowerment Advocacy Award, Facing Our Risk of Cancer Empowered
2012 Honorary Professorship, Hebei United University, Tangshan, China
2012 Collaborate|Activate Innovation Challenge First Prize Award for Platform for Engaging Everyone Responsibly (PEER)
2013 Ashoka Changemakers First Prize for PEER
2013 Forbes Best Business Model for Transforming Health Systems for PEER
2013 FDA Hero for the 30th Anniversary of the Orphan Drug Act
2014 Women of Impact, Robert Wood Johnson Foundation
2015 Robert Wood Johnson Foundation Pioneer Award
2016 National Associate, National Research Council
2016 Health 2.0 Activist Award