Ed Kloza MS, CGC
Ed Kloza is a genetics consultant to the New England Regional Genetics Network. He received his degree in Human Genetics and Genetic Counseling from Rutgers University, and has co-authored over 35 articles in the medical literature.
Ed has extensive experience in genetic education of primary care clinicians and the general public. He is past president of the National Society of Genetic Counselors, past editor of Perspectives in Genetic Counseling, and served on the editorial board of the Journal of Genetic Counseling. He co-founded the American Board of Genetic Counseling, and received the Natalie Weissberger Paul National Achievement Award in 2000.
SPEAKERS & TOPICS
David Weinstein, MD, UCONN
Medical Advocacy and Clinical Trials - "Primer on Clinical Trials in the Rare Disease Population: What every participant must understand"
Karen Volle, New England Regional Genetics Network (NERGN)
How I Came to Work with a Regional Genetics Network (and what I learned along the way)
Michele Spencer-Manzon, MD, Yale-New Haven
Genome testing - Ethical and Practical Issues
Ed Kloza MS, CGC, New England Regional Genetics Network (NERGN)
How to Prepare for Your Geneticist App
Lisa Deck, RNE Committee Member, Founder of Sisters@Heart
Legislative Advocacy - Legislation Action Tips 101
Annette Hines Esq, Special Needs Law Group of Massachusetts
Legal Advocacy
Alan “Pendo” Pender; Camp Director - Hole in the Wall Gang Camp
Curt Lueker, Founder and President of myTEAM TRIUMPH Connecticut Chapter - Team Triumph
Seth Rotberg - Our Odyssey Resource Panel
Julie Bolduc DeFilippo, MSW, LCSW - Caregiver Burdens and Findings
Rare New England Annual Conference 2020
“Improving Health Care Experiences in the Rare Disease Community”
Lisa Deck
Lisa Deck is a Founder & Director of Sisters@Heart, a non-profit organization that improves the lives of those affected by heart disease and stroke. Lisa is a former Go Red for Women National Spokeswomen for the American Heart Association and currently serves as an Advocacy Board Member for the American Heart Association in Boston and Southern New England. Lisa also serves as a Global Ambassador, sharing her personal experience and patient expertise internationally.
Suffering her first three strokes twenty years ago, Lisa has been a patient activist and keynote speaker for the past two decades. Lisa lobbies at the local, state and Federal level for health policy development . She is a widely known advocate voice that inspires others and raises awareness of heart disease, stroke and Moyamoya disease.
In 2015, Lisa was diagnosed with Moyamoya Disease, a rare cerebrovascular disease, after an 18-year diagnostic odyssey. She underwent two brain bypass surgeries to restore blood flow to her brain. Since then, Lisa has become actively involved in rare disease advocacy, serving as a Board Member for the Moyamoya Foundation and a Committee member of Rare New England. On behalf of Rare New England, Lisa produces and hosts a local cable show, The World of Rare Disease. Lisa lives in North Attleboro, Massachusetts with her husband and two children.
FOD Break-Out Lunch Meet-Up
FOD Family Support Group, is a 501c3 nonprofit with a
Mission to connect and network with FOD Families and Professionals around the world and to provide emotional and grief support, Family Stories, practical information about living with these disorders, and Medical Updates to inform families of new developments in screening, diagnosis, research and treatment. The FOD Group will meet for a breakout sessions during the RNE conference.
During the lunch period, Dr Mark Korson and Dr Michele Spencer-Manzon will address various topics posed by FOD Families and then the time will open up for Q&A and further networking until returning to and joining the afternoon main RNE sessions. FOD Families will have the option to network after the conference at a site TBD.
SPEAKERS
Karen Volle
Karen has been with the Institute on Disability at the University of New Hampshire (IOD/UNH) since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD.
Karen’s work spans two areas, the first being the New England Regional Genetics Network (NERGN). NERGN aims to improve health equity and health outcomes in individuals with genetic conditions, reduce morbidity and mortality caused by genetic conditions (including congenital and metabolic disorders); and to improve the quality of coordinated and comprehensive genetic services to children and their families. The second area is related to research on policies around employment for people with disabilities.
Michele Spencer-Manzon, MD
Michele Spencer-Manzon, MD grew-up in New England, eventually going to the University of Massachusetts Medical School. She went to Duke for residency and fellowship training where she complete General Genetics residency and a Medical Biochemical Genetics fellowship. She worked at Duke for a year after training and then came home to New England to take a position on faculty at Yale where she has been for the past 6 years.
Annette M. Hines
Annette is the founding partner of Special Needs Law Group of Massachusetts, PC and has been practicing in the areas of Special Needs, Elder Law and Estate Planning for over twenty years. Her clients include individuals and families of children with special needs, the elderly, and others in the community. She received her BA for the University of Vermont, her MBA from Suffolk University, and her JD from Howard University School of Law.
Ms. Hines brings personal experience with special needs to her practice, as the mother of two daughters, one of whom passed away from Mitochondrial disease in November 2013. This deep personal understanding of special needs fuels her passion for quality special needs planning and drives her dedication to the practice.
Recognized as a Distinguished Citizen by ARC Massachusetts and cited for public service by both the Massachusetts State Senate and House of Representatives, Ms. Hines works tirelessly on behalf of
people with disabilities. She was designated a 2016 Top Women of Law from Massachusetts Lawyers Weekly and has been named to the Massachusetts Super Lawyer list every year since 2014. In April of
2019 she published her Amazon Best Selling book, Butterflies and Second Chances: A Mom’s Memoir of Love and Loss. Additionally, in September of 2019, she launched her podcast, Parenting Impossible – The Special Needs Survival Podcast. Ms. Hines is also a frequent contributor to many special needs resources, both as author and interviewee, including Arianna Huffington’s Thrive Global.
Curt Lueker
Curt Lueker is the Chief Lending Officer and Head of Commercial Markets for Modern Bank, responsible for managing the bank’s lending and client relationship strategies. Before joining Modern Bank, Mr. Lueker spent nine years at RBS as a Managing Director in Asset Management, Head of Leveraged Finance Portfolio Management, Head of Technology/Media/Telecom Portfolio Management, and President & Chief Operating Officer of RBS Equity Corporation. Prior to joining RBS, Mr. Lueker was a Vice President in the Merchant Banking Group at Indosuez Capital and a founding member of Bank of America's Financial Sponsor Portfolio Management team.
Curt began competing in endurance racing in 1999 and has completed marathons, duathlons, triathlons and ultra marathons. He is the President and Founder of My Team Triumph Connecticut, Co-Chair of the PR/Marketing Committee for A Better Chance of Westport, an annual fundraiser/cyclist for the CT Challenge, and a member of the Westport Astronomical Society.
David Weinstein, MD
Following his graduation from Trinity College (CT) and Harvard Medical School, Dr. Weinstein did a residency, chief residency, and fellowship in pediatric endocrinology at Children's Hospital Boston. He subsequently obtained a Masters in clinical investigation from Harvard and MIT, and became Director of the Glycogen Storage Disease Program at Boston Children's Hospital. In 2005, Dr. Weinstein moved to the University of Florida where he directed the Glycogen Storage Disease Program and became a professor. He and his team moved to the University of Connecticut and Connecticut Children's Medical Center in 2017 as a tenured professor.
Dr. Weinstein follows largest cohort of hepatic GSD patients in the world with over 700 patients at his center traveling from 51 countries. In 1989, he was named as one of the inaugural Goldwater Scholars. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he was the George Sacher Award winner from the Gerontological Society of America. In 2013, Dr. Weinstein was honored with the Order of the Smile international humanitarian award, and he is a member of the Rare Disease Research Hall of Fame. He has authored over 100 manuscripts on glycogen storage disease along with 28 chapters on the liver forms of GSD.
Seth Rotberg
Seth is a patient advocate and motivational speaker who is passionate about bringing his personal experience to better support the health community. He has over 11 years of fundraising, advocacy, and volunteer experience within the health space. His passion is driven by his mother’s 17-year battle with the rare, genetic disease known as Huntington’s Disease (HD). At the age of 20, Seth also tested positive for the disease and is a gene carrier. Rather than dwelling on these results, he decided to use them as motivation to fight back and get more involved within the community.
In 2019 he co-founded the nonprofit, Our Odyssey, to connect young adults in the rare and chronic communities with social and emotional support. Seth currently resides in Boston, MA where he works professionally as the Patient Engagement Manager for Inspire.
Julie Bolduc DeFilippo, MSW, LCSW
Julie is a doctoral student in the PhD program in Social Work at Simmons University. Her background includes lobbying in both the federal and state levels, policy, grassroots organizing, diversity and inclusion work and teaching. Julie’s current interests include studying caretaking experiences of children with PKU and other rare diseases.
She is currently working with a team of researchers at Simmons on a study looking at pathways for people of color and immigrants in the human service industry. Currently, Julie is a full-time Instructor of Social Work at Salem State University where she teaches in the areas of social policy, the history of social welfare systems, human diversity, generalist practice skills in community practice and human behavior. Julie is the 2014 recipient of the Dean’s Award for her academic excellence at Boston College School of Social Work.
Alan "Pendo" Pender
Alan grew up in Ireland and moved to the United States 3 years ago. He received a degree in Ireland in Applied Social Studies and currently working on his Masters in Social Work at the University of Connecticut. Alan is also the current Camp Director at the Hole in the Wall Gang Camp. The Camp provides year-round programming for children with serious illnesses and their families free of charge. Both residential and Outreach opportunities available. He worked at a sister camp of The Hole in the Wall Gang Camp called Barretstown in Ireland for 6 years, and has worked at Camps for children with serious illnesses for 15 years. He has also been a consultant for local partners in India, Tanzania, Uganda, Swaziland and Mexico. He helped them set up therapeutic programs to serve children with HIV/Aids. While working at The Hole in the Wall Gang Camp, he met his wife, who was also a counselor at the time. Alan loves to travel all over the world, most recently visited Vietnam and Thailand.
