Dr. Phornphutkul is a professor of Pediatrics and Laboratory Medicine at the Warren Alpert Medical School of Brown University. She is a biochemical geneticist at Hasbro Children's Hospital. She has been a long term member of the newborn screening advisory committee to the Rhode Island Department of Health and is currently the chair of the committee. She is a member of the Advisory Committee on Heritable Disorders in Newborns and Children providing recommendations to HRSA. Her clinical interests are in rare diseases.

Michele Spencer-Manzon, MD, is a clinical and biochemical geneticist who specializes in treatment of metabolic and neurometabolic disorders. She graduated from UMASS Medical School with honor and completed residency and fellowship at Duke University Medical School. She works in Yale Medical School Departments of Genetics and Pediatrics. She is the Associate Clinical Chief of Clinical Operations. Her area of expertise is in inborn errors of metabolism, neuromuscular disease and genetic disorders of the GI tract. When not working Dr. Spencer-Manzon enjoys travels and outdoor activities including running, hiking and kayaking.

Few people with a cause walk the talk as boldly and graciously as Christine Von Raesfeld, founder and CEO of People with Empathy. Christine is a pillar of patient advocacy and allyship in the rare and chronic disease community. Through the lens of her lived experiences in healthcare, she has become a champion for patient voices, diversity and inclusion in clinical research, and equitable patient-sponsor partnerships.

Christine has brought her unique perspective and honed expertise to countless roles as a featured speaker for numerous conferences on topics ranging from clinical trial recruitment to data & digital rights, from a true patient perspective. She serves as an e-patient scholar with Stanford MedicineX and a Technical Expert Panelist with CMS among other roles. Wherever possible, Christine generates momentum toward progress along her patient advocacy interests and has become a thought leader worldwide, stimulating dialog on a range of topics relevant to patients, clinicians, and industry as moderator and host of People with Empathy; The Inside Track on clubhouse.

As a patient advisor, Christine has assisted several initiatives including the Stanford "Humanwide" Precision Medicine Program and the NIH All of Us Research Program and serves as a board member/advisor to multiple organizations and startups. For her many contributions to her field, she has been named one of the top 100 Women of Influence by Silicon Valley Business Journal, a member of the 2021 HIMSS Future50, and one of Medika Life's 50 most influential voices in healthcare among other distinctions.

Sanath is a bold and visionary software leader, open source pioneer and a rare disease drug developer. In his career, he has built and launched several successful open source software products. He is now using open source softwar e to enable treatments for 400 million patients worldwide affected with rare genetic diseases through his non-profit organization, OpenTreatments Foundation (opentreatments.org). He is building the world’s first sof tware platform to decentralize drug development and empower anyone in the world to create a treatment for a genetic disease. He is also the father of a 4-year-old boy who is one of 9 kids worldwide with an ultra-rare genetic disease called SSMD

(curegpx4.org).

Kate is one of the five founders of the Barth Syndrome Foundation’s Board of Directors in 2000 and served on the Board until 2014 when term limits required that she step down. She subsequently rejoined the Board in 2019 and became Board Chair in 2020. Kate is responsible for establishing the Science and Medicine programs of BSF, including both the Scientific and Medical Advisory Board (SMAB) as well as BSF’s research grant program. She has served ex officio on the SMAB for most of the time since its beginning.

Kate graduated from Duke University with a degree in economics and has an MBA from the Harvard Business School. She worked in both economics and corporate management until her son was born with Barth syndrome, an ultra-rare mitochondrial disease with key clinical manifestations including cardiomyopathy, immune systems vulnerabilities (in the form of neutropenia), skeletal muscle weakness, gastrointestinal problems and metabolic issues.

In addition, Kate has held various leadership positions on the boards of several other nonprofit organizations. She and her husband, Steve, have two children. Their son, Will, passed away in 2014 at the age of 28 from complications of Barth syndrome, and their daughter continues to be involved with BSF and especially with the other siblings of Barth individuals. Kate remains strongly committed to the Barth community and the mission of BSF.

Sarita Edwards is CEO & President at the E.WE Foundation, a nonprofit healthcare advocacy organization. She began her efforts of advocacy and public policy after her 5th child was diagnosed in utero with rare disease Edwards Syndrome or Trisomy 18. Sarita is recognized as a world's top patient expert and social health ambassador. She is an award winning advocate and host of the Being Rare Podcast, a digital resource hub and community conversations platform popular for its 60 second episodes.

Sarita serves on executive boards and advisory councils within her home state and across the country. She is a rare disease legislative advocate, a member of multiple coalitions, and an active participant in DEIA workgroups. Sarita also serves as a Community Congress member providing advice and insight on urgent policy initiatives.

Sarita has a Bachelor of Science is Health Science and is currently pursuing her Masters in Health Administration. She has professional experience in Healthcare Operations & Patient Access. Sarita has certifications in Seizure Recognition & First Aid from the Epilepsy Foundation and Mental Health First Aid from the National Council for Behavioral Health & Mental Wellbeing. Additionally, Sarita has continuing education studies in effective parenting, childhood behavior, and childhood abuse & neglect.

Sarita lives in North Alabama with her husband and their five children.

Giselle joined Project Access-New Haven (PA-NH) as a bilingual patient navigator in February 2011 and currently holds the executive director position. A native of Buenos Aires, Argentina, Giselle was a student-ath lete at the University of New Haven, graduating with a BA in clinical psychology. She earned her MBA from Albertus Magnus College with a concentra tion in leadership.

Giselle’s upbringing has led her to live in multiple countries, including Egypt, Italy, Argentina, and the United States. This led her down personal and professional paths that enriched her understanding of cultural diversity and inspired her to advocate for community health and equity.

Lauren joined Project Access-New Haven (PA-NH) in 2011 and serves as director of grants and impact. Lauren completed her MSW and MPA at Virginia Commonwealth University, concentrating in social work administration, planning, and policy, and nonprofit management. She earned her BA from Haverford College, where she studied psychology and neural and behavioral science. Prior to joining PA-NH, Lauren was a presidential management fellow at the Department of Veterans Affairs’ Northeast Program Evaluation in West Haven, CT. She has also managed clinical research studies in addiction psychiatry and pulmonary and critical care medicine at Virginia Commonwealth University and New York University School of Medicine.

Throughout her career in the public and nonprofit sectors, she has focused on developing and evaluating programs that provide health and social services for underserved populations.

Charles Bergamo is the Chairperson of the West Regional Parent Advisory Council for the CT Department of Developmental Se rvices which acts to have parent voices involved in the policies and procedures of the Department. He is a member of the Connecticut Council of Developmental Dis ability, which was created in 1971 to enable Connecticut to receive federal funding to meet the needs for services to persons with developmental disabilities.

Charles is Chairperson of Bridge the Gap/Syngap1 Foundation for Research and Education, which is a non-profit established by Monica Weldon 8 years ago in the Rare Disease Space dealing specifically with the Syngap 1 Gene Mutation. The organization works to gather information internationally to a database that specifically deals with people with this rare genetic mutation and coordinates directly with researchers to develop therapeutics and treatment options for the many challenges people with this mutation face.

As the parent of a 20 year-old with Syngap1, Charles has a unique understanding of the challenges Special Needs families face. He has spoken to national groups on the issues surrounding Planning for Individuals with special needs. His goal and passion is to pass that knowledge along to similarly situated individuals to help those families provide for and take care of the person they love.

Charles is able to marry his background as an attorney and his 20+ years of experience as a Financial Advisor with a specialization in Chartered Special Needs planning. The ChSNC™ which is exclusive to The American College, is a new program designed to provide people with disabilities and other special needs with a more competent advisor. As a ChSNC™ Charles is able to navigate the unique considerations, tax deductions, healthcare issues, Medicaid complexities, and the emotional aspects of providing for a differently abled loved one.

Tasia Rechisky is a patient, rare disease advocate, writer and Rare New England (RNE) board member. Living for the past 30 years with a rare fatty acid oxidation disorder (FAOD) called VLCADD (very long chain acyl-coa dehydrogenase deficiency), she has dedicated her adulthood to advocating for the patients and building awareness of the rare disease experience. After learning to cope when her rare disease flared during her teenage years, she immersed herself in advocacy. She starte d giving presentations to science and medical students about life as a patient, helping these students connect their studies to real patients. She is now a member of several patient leadership councils, informing pharmaceutical companies on the patient perspective and helping build resources for rare disease patients and caretakers. She serves in leadership positions within several non-profits, including but not limited to MitoAction and Rare Disease Legislative Advocates (RDLA). She participated in a clinical trial for 15 years until the drug that changed her health trajectory was ultimately FDA approved. She has spoken to researchers, doctors and other decision-makers within the FDA and other organizations about this experience and the importance of clinical trial participation. In addition to being a creative writer and avid reader, she is a contributor to the Mighty and other publications.

Emily Parks is a chronically ill young professional based out of San Francisco working in behavioral health and patient advocacy. Combining her expertise in behavioral health with her lived experience of navigating multiple tertiary hospitals firsthand has led her down the path of studying the impact of medical trauma and medical PTSD on patients and providers and its influence on treatment outcomes. Emily is the founder of POP!, an organization dedicated to raising awareness of Medical PTSD and possible resources both patients and providers can utilize.

Kimberley E. Steele, MD, PhD, FACS, FASMBS and Diplomate of the American Board of Obesity Medicine (DABOM), completed her surgical residency at Hershey Penn State University from 2000 to 2005 and a minimally invasive and bariatric surgical fellowship a t Johns Hopkins from 2005-2006. She was invited to remain on staff at the Johns Hopkins University School of Medicine and promoted to Associate Professor of Surgery in 2014 with a secondary appointment in Health, Society and Behavior, Johns Hopkins Bloomberg School of Public Health. Her career a t Johns Hopkins spanned over 14 + years. Contributing in all facets of academia, Dr. Steele loved taking part in medical school training and education. During her fellowship she volunteered her time teaching and as an Assistant Professor was named the Associate Clerkship Director in Surgery for over 8 years. As well , she led the surgical residency training labs weekly and was Director of Surgical Simulation and Education. Clinically, while she practiced general , MIS and adult bariatric surgery, she had a passion for adolescents struggling with obesity and was named the Director of the Adolescent Bariatric Surgical Program.

Dr. Steele’s clinical practice, her patient’s stories, their struggles with weight loss, the marked consequences clinically, physically, mentally, and financially as they progress through life, and the variability in long-term surgical weight loss outcomes is what motivated her to be actively involved in research. In 2011, Dr. Steele received a KL2 NIH award and Clinician Scientist Award, which allowed for protected time to study at the Johns Hopkins Bloomberg School of Public Health where she obtained a PhD in the Graduate Training in Clinical Investigation. Dr. Steele went on to study the gut-brain axis and was keenly interested in neuroimaging and discovering what the underlying mechanisms might be that help with sustained weight loss following surgery (like taste changes). She was awarded a K23 grant from the NIDDK entitled, “Neurobiological Alterations Induced by Bariatric Surgery: Taste Response and its Relationship to Weight Loss”. Dr. Steele’ s love for research led to a leadership position as Director of the Johns Hopkins Center for Bariatric Research and Innovation where she conducted translational and clinical trials and collaborated with colleagues in many disciplines around the world.

However, Dr. Steele’s greatest accomplishment is that of being a mom to two incredibly cute and amazing boys, Michael age 13 and Matthew age 12 years old.

In 2016, after a yearlong diagnostic odyssey, Dr. Steele’s oldest son Michael was diagnosed with an ultra-rare life-threatening disease called Kaposiform Lymphangiomatosis (KLA). A disease with only partial treatments and no cure (yet). As a physician and mother, Dr. Steele has seen both sides of patient care. As a clinician, she is grateful for her understanding of medical care and the ability to quickly obtain care for her son. At the same time, she is cognizant of what parents and family without medical background must endure as they navigate the healthcare system. As a researcher, she has witnessed how experts sometimes work in silos, unaware of opportunities for collaboration or held back by time constraints, competition, or lack of resources. As a mother, she understands that parents will do anything to help their child. In Dr. Steele’s case, this translated into advocating and sharing Michael’s story, spreading the word, and asking for help. The result was amazing as Michael demonstrated the “Power of One”: how one little boy can bring experts together and overcome barriers in pursuit of a cure.

David Ross is a patient advocate and rare disease male mental mental health collabo rator. David's activism began in 2017 when he was diagnosed with a rare disease called Cowden Syndrome due to being given a letter from his mother about getting tested before she passed away due to having the same condition.

After a period of coming to terms with this he became committed to raising awareness and supporting others impacted by this condition by helping set up a support group and also applying to join the Pten Foundation International Family Council which looks to help my rare disease community by raising awareness about Cowden Syndrome.

In 2020 he attended 3 virtual Eurordis rare disease schools and is currently on the Findacure mentoring program. His latest project has been to set up rare disease male mental mental health International zoom calls for patients and caregivers and has set up an online support group on facebook for males in 2021.

Cristol Barrett O’Loughlin is a seasoned executive and storyteller. As Founder & CEO of ANGEL AID CARES, Cristol is fiercely passionate about providing social , emotional , physical and financial relief to caregivers, particularly mothers of children with rare diseases. A former UCLA instructor, she co-founded advertising firm, The Craftsman Agency, and is humbled to advise global brands: NBA, Disney, Fox, Cisco Systems and Google. During her tenure at IBM Life Sciences, she helped accelerate advancements in cheminformatics and biotechnology. Watch her TEDx talk ‘Caring for the Caregivers: 3 Tools for Self-Care’ at https://www.angelaidcares.org/tedx. We invite caregivers, patients and professionals to ‘take the pledge’ at Raregivers.global.

Ms. Bradshaw is the Chief of Mission Delivery for the Patient Advocate Foundation. She provides leadership in the design, delivery, and oversight of the case management division to ensure the achievement of the organization’s philosophy, mission and goals and objectives. Her 23 years’ experience with PAF has been spent improving patients’ lives around the nation.

Eileen Sullivan is Mom to a recent college graduate who was diagnosed with a rare metabolic condition. As a trained attorney, Eileen uses her advocacy skills to support the Fatty Acid Oxidation community serving on a Patient Leadership council and volunteering. In 2018, Eileen presented to the FDA along with her son and a small group of patients and caregivers, advocating successfully for approval of the first ever medical treatment for patients with these rare metabolic conditions. Additionally, Eileen is working in the state of Ohio to join the Rare Disease Advocacy council to ensure that patients are afforded proper medical care and treatment.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014. Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients. Dr. Korson is also an RNE Board Member.

Brittany Holmes MSN, APRN, FNP-BC is a nurse practitioner at Yale University Department of Genetics. She sees a wide variety of patients with rare diseases at Yale-New Haven Hospital, and specializes in inborn errors of metabolism. She also participates in research projects through Yale for patients with metabolic disorders. She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston. Her interest in working with inborn errors of metabolism began at a young age, due to her personal experience as a patient with a rare disorder (PKU). She spoke at conferences from the patient perspective, which ultimately led to seeking a career as a healthcare professional in the specialty. She enjoys being able to offer both the provider and patient perspective, and has a passion for caring for patients in this specialty.

Dr. Amy Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinic.

Mary-Frances Garber, is a board-certified, licensed genetic counselor, with a private practice, Listening, Reflecting, Healing, where she provides supportive genetic counseling and bereavement services. Her belief is that individuals and families need a place to process their emotions associated with their genetic issues. In addition to this, Ms. Garber works as a per diem prenatal genetic counselor in the Maternal Fetal Medicine department at Newton Wellesley Hospital and as a consultant with Genome Medical. She was the Executive Director for NERGG, Inc., The New England Regional Genetics Group for eleven years. Earlier in her career, she worked at Brigham and Women’s Hospital in the Antenatal Diagnostic Center. Mary-Frances attended the University of Rochester, graduating with a BS in Molecular Genetics, and SarahLawrence College where she earned an MS in Human Genetics. Mary-Frances is a member of the National Society of Genetic Counselors and has served as Region I Representative on the Board of Directors. She previously served on the Boston University Genetic Counseling Program Advisory Board.

Shelby Redfield is a genetic counselor in Otolaryngology at Boston Children's Hospital and a recent graduate of the Boston University School of Medicine Genetic Counseling Program. She is a volunteer with the Patient-Teacher Registry, an initiative which seeks to increase awareness of rare metabolic disease by helping patients to share their personal stories and expertise with medical audiences. This work inspired her graduate research on the experience of families with rare metabolic disease during the COVID-19 pandemic.

Mike Walsh is founder and CEO of Patient Advocacy Strategies, a strategic consulting firm for the life sciences industry. PAS supports clients by designing and implementing innovative and efficient collaborations with patient, professional and consumer groups around the world to support patient access to medical innovation and optimal, patient-centered healthcare.

Mr. Walsh also serves as Executive Director of the Derma Care Access Network (DCAN)–an independent, non-profit advocacy coalition comprised of diverse stakeholders that include patients, patient advocates, physicians, and health policy experts. Its members recognize that all skin conditions can have a tremendous impact on quality of life and DCAN works to forge policies that protect patient access to approved treatments and appropriate, patient-centered dermatological clinical care.

Mr. Walsh also leads the non-profit Alliance for Balanced Pain Management, a collaborative of stakeholders from the pain community focused on ensuring patients living with painful conditions have access to all available treatment options to support patient-centered pain care.

Mr. Walsh is a Board Member of the Prescription Process Advocacy Network, the MassBio Patient Advocacy Task Force and the Steering Committee for the OA Action Alliance. In the past, he’s served on the Board of Directors for the MA March of Dimes and is past Chair of the MassBio Marketing & Communications Committee. He is also a current RNE Board Member.

Mike lives a few miles outside of Boston, in Winchester, MA with his wife Shelly and their three school-aged children.

Jenn McNary is a trusted voice in the rare disease community, as a mother, public speaker and fierce advocate. Her work in the rare disease space as a thought leader earned her the Ryan’s Quest Ryan’s Hero award in 2013, a nomination for the Global Genes Champion of Hope award in 2014, and the prestigious 2017 Meyer- Whalley instrument of change award. Formerly as the director of outreach and advocacy at a Massachusetts based non-profit foundation, she was responsible for the organization of the largest FDA advisory committee hearing in history, with over 1000 duchenne advocates, families, clinicians and researchers in attendance. There are currently only three drugs approved for Duchenne, Exondys51, Vyondys53 and Emflaza, though in various roles, Jenn was involved in the approval process for all three. Jenn has unique experience in the drug development field, as a parent of children enrolled in the clinical trials, an advocate engaging with the regulators and as a consultant helping to develop programing for patients. Currently, Jenn is consulting in the biotechnology space with an expertise in caregiver/patient engagement, including bringing the patient voice to drug development and solving barriers to access. Her other activities include serving as the Founder of One Rare, a non-profit formed to meet the needs of young adults with rare and chronic conditions and raising her four children in Massachusetts.

Richard Pezzillo is the Executive Director of the New England Hemophilia Association (NEHA). Prior to joining NEHA, Richard worked in Washington, DC as the press secretary for Senator Sheldon Whitehouse, and then as the Communications and Marketing Director for the Hemophilia Federation of America (HFA). Richard is the former co-chair of the National Hemophilia Foundation’s (NHF) Youth Leadership Institute. He is the recipient of the Ryan White Meritorious Service Award, NHF Advocate of the Year Award, and a “40 under Forty” winner for the Association for Healthcare Philanthropy and Providence Business News. Richard graduated from Western Connecticut State University and currently resides in Providence, Rhode Island.

Dr. Nizar serves as Founder and Executive Director of the Jansen's Foundation. She is a rare disease advocate and Change Leader in the rare disease community. Dr. Nizar has a Doctoral degree in Educational Leadership from Creighton University, Nebraska, is a TEDx speaker, a blogger and inclusion advocate. She is Nebraska’s Mother of The Year, 2018. Dr. Nizar is also a rare disease patient and a mother to two boys with Jansen's Metaphyseal Chondrodysplasia – a disease that affects less than 30 people worldwide.

Dr. Danny Sands is passionate about healthcare transformation. A practicing physician with training and experience in clinical informatics, Dr. Sands has worked in a variety of capacities in the healthcare IT industry for over 25 years. He spent almost 14 years doing clinical informatics at Beth Israel Deaconess Medical Center, where he developed and implemented innovative systems to improve clinical care delivery and patient engagement, including clinical decision support systems, an EHR, and one of the nation’s first patient portals. This was followed by leadership positions including Cisco, Zix Corporation, and others. Dr. Sands is the recipient of numerous healthcare honors, including recognition in 2009 by HealthLeaders Magazine as one of “20 People Who Make Healthcare Better.” He is the co-author, with e-Patient Dave deBronkart, of Let Patients Help. Dr. Sands has earned degrees from Brown University, Ohio State University, Harvard School of Public Health, and trained at Boston City Hospital and Boston’s Beth Israel Hospital. Dr. Sands holds an academic appointment at Harvard Medical School and maintains a primary care practice at Beth Israel Deaconess Medical Center in which he makes extensive use of health IT—much of which he helped to introduce. In addition to practicing, Dr. Sands works with a number of innovative companies and is a co-founder and the chief advocacy officer of the Society for Participatory Medicine. He is a popular speaker and consultant, blogs at DrDannySands.com and tweets as @DrDannySands.

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. 

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the Board of Directors of the American College of Medical Genetics and Genomics. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

Shannon von Felden is the Director of Rare Disease Legislative Advocates, a program of the EveryLife Foundation for Rare Diseases. She works with rare disease advocates across the country to engage at the local, state, and federal level. She began her career on Capitol Hill as a Legislative Assistant for Congresswoman Shelley Berkley (NV) working on health care and veterans affairs issues. Shannon has worked with national nonprofit organizations to further their policy and advocacy goals including Juvenile Diabetes Research Foundation and National Osteoporosis Foundation. She received her Master of Public Policy from American University.

Adrian Palau-Tejeda is the Diversity and Inclusion Fellow for the EveryLife Foundation for Rare Diseases. A Midwestern in all that he does, Adrian began his outreach work walking the streets of Milwaukee, field organizing in under-served communities. In his role at EveryLife, Adrian has striven to develop diverse relationships and resources in order to establish meaningful connections with diverse rare disease communities.

Lisa was diagnosed with Moyamoya Disease, a rare cerebrovascular disease, after an 18-year diagnostic odyssey. She underwent two brain bypass surgeries in 2015 to restore blood flow to her brain. Since then, Lisa has become actively involved in rare disease advocacy. Lisa serves as a Board Member for the Moyamoya Foundation and a Board Member for Rare New England. On behalf of Rare New England, Lisa produces and hosts a local cable show, The World of Rare Disease. Lisa is a four time stroke survivor who has been a patient activist and keynote speaker for the past two decades. She is a leading lobbyist 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. 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. Lisa lives in North Attleboro, Massachusetts with her husband and two children.

Austin is a 22-year-old college student, currently working on a mechanical engineering degree at Bunker Hill Community College. In his free time, he enjoys playing power soccer with his team in weekly practice and in games around the United states, and downhill skiing with his family. Austin has been a participant in clinical trials, is a volunteer on Parent Project Muscular Dystrophy’s Adult Patient Advisory Committee, and a member of the review board for certified Duchenne care centers. In 2019 he co-founded One Rare, a 501c3 non-profit aiming to fill the gaps in social, recreational and educational opportunities for young adults living with rare diseases. Whenever possible, he uses his voice to elevate our DMD community and increase awareness of the need for approved drug therapies. Austin spoke at the first ever advisory committee meeting for a Duchenne drug approval, has testified at congressional briefings and met directly with the FDA representing the Duchenne community. As the subject of documentaries, including, To the Edge of The Sky, Rare in Common, and Gene Doctors, and the recipient of the 2016 Meyer- Whaley instrument of change award, Austin has been committed to using his life situation to raise awareness for those living with rare disease. Practically, he would like to be involved in technology that can make the lives of those affected easier, and help to measure benefit in clinical trial setting so more non-ambulant young men will be able to participate and give valuable data.

Donna Sullivan is a passionate writer who uses her experience in media and communications to creatively raise awareness of the needs of kids living with Ehlers Danlos Syndrome and complex pain conditions. As a board member for The Coalition Against Pediatric Pain, (TCAPP.org) Donna helps support and advocate for children and families. An outspoken voice for the rising epidemic of psychological misdiagnosis in rare disease, Donna is also the Consulting Producer for “Complicated,” a film in production with Open Eye Pictures. Donna has three children diagnosed with Hypermobility, Ehlers-Danlos Syndrome, POTS, MCAS and Complex Regional Pain Syndrome. She also serves on the Board of Directors for Merlin’s Kids, a NJ based non-profit that trains and places service dogs with children in need.

Amy Camerlin is the Physician and Hospital Outreach Coordinator for Angel Flight NE, a non-profit organization that was founded in May of 1996. Angel Flight NE provides free flights for children and adults needing to access medical treatment for as long and as often as needed. Amy began her career at Angel Flight NE in 1999 and in 2009 left to start her own small business. It would be five short years when Amy realized her passion was with Angel Flight NE. Having survived a serious neurological illness at the age of 17 she understands the importance of access to specialized medical care. Her illness required years of follow up care with multiple physicians as is the case with many AFNE patients. In 2014 she re-joined Angel Flight NE and has been cultivating and fostering relationships with social workers, nurses, case managers, physicians, hospital administrators and other non-profit organizations all to ensure that people in need of access to medical care are aware of AFNEs services. Providing in-services or speaking on panels to help further Angel Flight NE mission has been a priority for Amy and Angel Flight NE.

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.

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.

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.

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.

Taylor Kane is the founder and president of Remember the Girls, an international non-profit organization that unites, educates and empowers female carriers of X-linked genetic disorders--a group that is underrepresented and often overlooked by the medical profession (rememberthegirls.org). Taylor’s activism began as a pre-teen, shortly after her father died from the rare X-linked disorder Adrenoleukodystrophy (ALD) and she learned that she was a carrier of this devastating disease. Not only did Taylor help raise more than $250,000 for ALD research, she successfully lobbied the New Jersey legislature and Governor to enact a law requiring the screening of newborns for ALD in New Jersey, as treatment is significantly more effective if the disease is diagnosed before the onset of symptoms. In 2012, Taylor founded a campaign called YAC (Young ALD Carriers) to support young females who carry the gene for ALD and to assist them in effectuating positive change through advocacy, social media, and the legislative process. She also currently serves as a leader of the Young Adult Representatives of the Rare Disease Legislative Advocates (YARR), educating young adults with rare diseases to advocate for more affordable, safe, and effective treatments. A recent summa cum laude graduate of The George Washington University, Taylor is an award-winning activist, an accomplished speaker, and a respected author, having recently published a memoir, Rare Like Us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease.

Dr. Korson graduated in Medicine at the University of Toronto School of Medicine (1982), then completed a pediatric residency nearby at Toronto’s Hospital for Sick Children. After completing a fellowship in genetics at Boston’s Children's Hospital (1990), he became director of the Metabolism Clinic at Children's until 2000. He then transferred across town to Tufts Medical Center to become director of the Metabolism Service, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson advocates for innovation in medical education and clinical practice models as a response to the growing crisis in metabolic health care due to the shortage of clinicians available to serve this patient community. He co-founded in 2007 the North American Metabolic Academy which has become an integral component of genetic resident training on this continent. Between 2007 and 2011, he founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, serving five major teaching hospitals in the northeastern US without an on-site metabolic service. In 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Education and Director of Physician Support Services, a telehealth consulting practice that assists physicians in the care of their metabolic patients.

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.

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.

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

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.

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.

For more info on My Team Triumph: What is mTT?

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.

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.

Joan Bishop has been with Oley since 1985 (nearly its inception) and has served in many capacities. As Executive Director, Joan handles the multitude of tasks it takes to keep Oley running and growing, including budget planning, building relationships, advocacy efforts, fundraising, board development, coordinating the annual conference, and more. She is dedicated to fulfilling the Foundation’s mission and welcomes your ideas, comments, and feedback. Joan can be reached at bishopj@amc.edu

Lisa Deck is a multiple stroke survivor, experienced patient-advocate and motivational speaker. Lisa became active in the volunteer community after suffering her first stroke twenty years ago. Lisa has survived three more strokes and recently underwent double brain surgery far from home to restore her health. She serves as a motivational speaker, sharing her story of thriving after literally having her blood vessels moved to preserve her life. She is a leading advocate and volunteer for the American Heart Association and served as a Go Red for Women National Spokeswomen 2014-2015. Lisa advocates at the local, state and Federal level for positive policy change. Lisa speaks throughout New England to inspire others and raise awareness of heart disease, stroke, and Moyamoya disease. Lisa also volunteers in her kids’ schools, as a Girl Scout leader, and with Rare New England. Lisa is proud to be a founder and director of Sisters@Heart.

Dr. Burke is board certified in both Clinical Genetics and Pediatrics. She serves as the Director of the University of Vermont Medical Center Clinical Genetics Program and is a professor in the UVM College of Medicine. Education in genetics to learners at all levels from medical school through practicing physicians has been an important part of her career. She has been involved on a regional and national level to make sure that the education of genetics and genomics is continued at the postgraduate and continuing education level. She serves on the Council of Genetics for the American Academy of Pediatrics and on the board of the New England Regional Genetics Network. She has given numerous CME courses and webinars and has worked on a national level to provide genetics and genomics educations to medical providers at all levels. She has been at the forefront of developing genetics and genomics education for medical students. She currently serves on the faculty for the Weitzman Institute Integrated Pediatric ECHO program providing telemedicine genomic education and consultations to providers.

John Campbell has 25 years industry experience with 15 years in the pharmaceutical and 10 years in biopharmaceutical business. In 1992 he joined SmithKline Beecham (SB) doing mammalian cell culture and fermentation process development. In 1998 he transferred to Global Clinical Development & Medical Affairs at SmithKline working on the clinical development of Avandia® for Type 2 Diabetes. At SB he led the Avandia® and Avandamet® Investigator Study Program and provided medical promotional preview and publication/lifecycle management for the Avandia® family of products while continuing to work on clinical development R&D projects in diabetes and metabolism.

In 2005 he joined Endo Pharmaceuticals as Associate Director of Medical Affairs serving as Medical Lead for Frova® and played a key role in the acquisition of Indevus Pharmaceuticals helping to establish new capabilities in pediatric endocrinology, urology and urologic oncology. At Endo John worked in a number of therapeutic areas and had responsibility as Medical Lead for Valstar® (bladder cancer), Vantas® (prostate cancer), Frova® (migraine), and Supprelin LA® (Central Precocious Puberty). He also worked in clinical development for a number of opioid and non-opioid pain management compounds. John left Endo in 2012 as Director, Medical Affairs and established Med Affairs Alliance Partners, LLC (MAAP) a consulting business serving various clients in the US, Toronto and Copenhagen.

In 2014 he joined Stealth Biotherapeutics as Senior Director, Clinical Development & Medical Affairs where he led the Mitochondrial Myopathy clinical development program and developed an expertise in the clinical and regulatory development of rare & orphan drugs. At Stealth he established a new group called Regulatory & Clinical Outcome Sciences focusing on incorporating functional clinical outcomes and the patient perspective in the clinical development of Bendavia for Mitochondrial Myopathy.

In 2016 John returned to consulting supporting clients with compounds targeting rare & complex disorders in various stages of pre-clinical and clinical development. John also works with the Genetic Metabolic Center for Education (GMCE) supporting the development of a novel approach to medical education in metabolic and genetic disease. John continues to work with a number of Patient Advocacy Organizations and lives with his family in Pottsgrove, PA.

Dr. Smith is a board certified Clinical Geneticist at Maine Medical Center. She is a graduate of University of Massachusetts Medical School and completed a pediatrics residency at Strong Memorial Hospital in Rochester, NY before starting her fellowship in Genetics at the Children’s Hospital of Philadelphia. Dr. Smith has been a practicing clinical geneticist in Maine since 2001. Dr Smith is the Medical Director of Cleft Lip and Palate Clinic at Barbara Bush Children’s Hospital. She is credited with bringing telegenetics to her practice and is the Region 1/New England Representative to the NCC Telegenetics Work Group.

Mark Korson, MD graduated from the University of Toronto School of Medicine (1982), completing a rotating internship at St. Joseph’s Health Center in Toronto (1983) and his pediatric residency nearby at The Hospital for Sick Children (1986). After completing a fellowship in genetics and metabolism at Boston’s Children's Hospital (1990), he became director of the Inborn Errors of Metabolism Clinic at Children's until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center's Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine, serving there until 2014.

Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. In 2007, Dr. Korson co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. NAMA is sponsored by the Society for Inherited Metabolic Disorders (SIMD).

Between 2007 and 2011, Dr. Korson founded and directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US without on-site metabolic services. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive, multi-modal initiative for improving the level of care for children and adults with metabolic disease. In October 2017, Dr. Korson joined VMP Genetics in Atlanta as Director of Physician Support to promote telehealth metabolic consulting, assisting physicians in the care of their metabolic patients. Also, as VMP Director of Education, he continues to develop innovative resources to help educate specialists and their trainees so they can participate more in the diagnosis and management of metabolic disease.

Dr. Burgess received his B.S. in Biochemistry from Michigan State University (1990) and his Ph.D. in Neuroscience from Stanford University (1996). After a postdoctoral fellowship at Washington University, St. Louis, Dr. Burgess took a faculty position at The Jackson Laboratory in Bar Harbor in 2001 and is now a full Professor. Research in the Burgess lab seeks to understand the molecular mechanisms of synapse formation and maintenance at two sites in the nervous system: the peripheral neuromuscular junction and the retina. In all of these studies, we are addressing basic molecular mechanisms, but these basic mechanisms have relevance to human neuromuscular and neurodevelopmental disorders. We are increasingly using the mouse models we have generated to test therapeutic strategies in preclinical studies, especially related to gene therapy approaches, with the goal of translating these findings to patients.

Dr. Burgess has also assumed a number of leadership roles both institutionally and nationally. Of particular relevance, he is on the scientific advisory boards of the Hereditary Neuropathy Foundation and the Talia Duff Foundation, and he is the Chair of the NIH study section for Cellular and Molecular Biology of Neurodegeneration. Internally, he is the director of the NIH-funded Center for Precision Genetics, the director of the postdoctoral training program in Bar Harbor, and the director for the cooperating Ph.D. program in Neuroscience with Tufts University.

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.

Carrie Woodcock is a graduate from Saint Joseph's College in Maine with a BA in liberal arts. She spent 15 years after graduation in the field of sales and marketing. Six years after the birth of her daughter she joined Maine Parent Federation as the Regional Family Support Coordinator for Southern Maine. Three years ago she became the Executive Director for Maine Parent Federation. She has a son who is 15 years old who is diagnosed with Dyslexia and ADHD, and a 12-year-old daughter with Down Syndrome. She has been advocating for the needs of her children across all systems of care since 2007. Her work with Maine Parent Federation has allowed her to share her knowledge and experience with parents and professionals alike since 2013.

"Small signals making big impact: The power and promise of health care social networks"

Inspire Communications Director John Novack will explore the deep value of patients gathering online in large numbers--for themselves, for their families, for researchers, and for healthcare as a whole. John will discuss a research project in which a researcher has been exploring a theorized correlation among certain childhood diseases and improved cancer outcomes later in life. The researcher has extremely strict selection criteria, and had expected to find two or three people at most who fit the criteria, but Inspire discovered many dozens of such people already. John will describe the still-untapped value to researchers of patient-generated insights.

John Novack oversees communications for Inspire, a health care social network of more than 1.5 million patients and caregivers worldwide. John served on the Association of Health Care Journalists’ board of directors and was an AHCJ officer. A former journalist, he was group publisher at HCPro, a health care regulatory publishing and training company. He also worked in communications and market development roles with Quantros, a safety software company, and EBSCO Publishing. He has a bachelor’s degree in psychology and a master’s degree in journalism.

“Accessing Medical Care for Free for Patients and Their Families with Angel Flight NE”

The presentation will cover what it is like to fly on an Angel Flight NE, how we can help, who we can help and where we fly. It will also address who our pilots are along with how our corporate sponsors impact our flights for children and adults.

Amy Camerlin is the Physician and Hospital Outreach Coordinator for Angel Flight NE, a non-profit organization that was founded in May of 1996. Angel Flight NE provides free flights for children and adults needing to access medical treatment for as long and as often as needed. Amy began her career at Angel Flight NE in 1999 and in 2009 left to start her own small business. It would be five short years when Amy realized her passion was with Angel Flight NE. Having survived a serious neurological illness at the age of 17 she understands the importance of access to specialized medical care. Her illness required years of follow up care with multiple physicians as is the case with many AFNE patients. In 2014 she re-joined Angel Flight NE and has been cultivating and fostering relationships with social workers, nurses, case managers, physicians, hospital administrators and other non-profit organizations all to ensure that people in need of access to medical care are aware of AFNEs services. Providing in-services or speaking on panels to help further Angel Flight NE mission has been a priority for Amy and Angel Flight NE.

"A Brief Introduction to Legal Planning For Life’s Transitions"

For families and individuals facing the impact of a rare disease, the natural stages of life can bring on new and diverse challenges. Attorney Hines will walk the audience through some key considerations in estate planning, incapacity planning and legal authority and access to essential public benefits and supports.

Annette M. Hines 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. Ms. Hines is also a frequent contributor to many special needs resources, both as author and interviewee, including Arianna Huffington’s Thrive Global.

"Next Step"

Our mission is to shatter limitations and elevate aspirations of teens and young adults living with life-threatening diseases during their transition to adulthood and into an adult healthcare system. Our programs are a place where young survivors feel safe enough to laugh, share experiences, and create a sense of community with peers who truly understand their unique challenges. We empower young people with the tools and knowledge they need to begin asking “what’s next?” instead of “why me?

Quita Christison, MPH is an ever-evolving cyborg. She's been at Next Step for 4 years now in different roles throughout the years. She is Next Step's resident people person. She is responsible for connecting awesome young people and their providers to our programs. She has found a way to merge her two passions of theatre and healthcare by engaging youth in expressive arts to help them take ownership of their narratives. She is all about having young people get into the conversations that matter to them. You can find her exploring new places and cultures, especially through food. She loves singing, laughing, and general noise making.

Lisa Deck is a multiple stroke survivor, experienced patient-advocate and motivational speaker. Lisa became active in the volunteer community after suffering her first stroke twenty years ago. Lisa has survived three more strokes and recently underwent double brain surgery far from home to restore her health. She serves as a motivational speaker, sharing her story of thriving after literally having her blood vessels moved to preserve her life. She is a leading advocate and volunteer for the American Heart Association and served as a Go Red for Women National Spokeswomen 2014-2015. Lisa advocates at the local, state and Federal level for positive policy change. Lisa speaks throughout New England to inspire others and raise awareness of heart disease, stroke, and Moyamoya disease. Lisa also volunteers in her kids’ schools, as a Girl Scout leader, and with Rare New England. Lisa is proud to be a founder and director of Sisters@Heart.

John Campbell has 25 years industry experience with 15 years in the pharmaceutical and 10 years in biopharmaceutical business. In 1992 he joined SmithKline Beecham (SB) doing mammalian cell culture and fermentation process development. In 1998 he transferred to Global Clinical Development & Medical Affairs at SmithKline working on the clinical development of Avandia® for Type 2 Diabetes. At SB he led the Avandia® and Avandamet® Investigator Study Program and provided medical promotional preview and publication/lifecycle management for the Avandia® family of products while continuing to work on clinical development R&D projects in diabetes and metabolism.

In 2005 he joined Endo Pharmaceuticals as Associate Director of Medical Affairs serving as Medical Lead for Frova® and played a key role in the acquisition of Indevus Pharmaceuticals helping to establish new capabilities in pediatric endocrinology, urology and urologic oncology. At Endo John worked in a number of therapeutic areas and had responsibility as Medical Lead for Valstar® (bladder cancer), Vantas® (prostate cancer), Frova® (migraine), and Supprelin LA® (Central Precocious Puberty). He also worked in clinical development for a number of opioid and non-opioid pain management compounds. John left Endo in 2012 as Director, Medical Affairs and established Med Affairs Alliance Partners, LLC (MAAP) a consulting business serving various clients in the US, Toronto and Copenhagen.

In 2014 he joined Stealth Biotherapeutics as Senior Director, Clinical Development & Medical Affairs where he led the Mitochondrial Myopathy clinical development program and developed an expertise in the clinical and regulatory development of rare & orphan drugs. At Stealth he established a new group called Regulatory & Clinical Outcome Sciences focusing on incorporating functional clinical outcomes and the patient perspective in the clinical development of Bendavia for Mitochondrial Myopathy.

In 2016 John returned to consulting supporting clients with compounds targeting rare & complex disorders in various stages of pre-clinical and clinical development. John also works with the Genetic Metabolic Center for Education (GMCE) supporting the development of a novel approach to medical education in metabolic and genetic disease. John continues to work with a number of Patient Advocacy Organizations and lives with his family in Pottsgrove, PA.

Joy Buzzel shares her experience with having a child diagnosed with Lennox-Gastaut syndrome (LGS). Joy is a social worker and began volunteering with the epilepsy community after her son’s diagnosis, which turned into a position at the Epilepsy Foundation of New England.

Medical Director at The Hole in the Wall Gang Camp

"An Overview of The Hole in the Wall Gang Camp"

An overview of services provided by The Hole In the Wall Gang Camp including summer camp, family weekends, parent programs, hospital outreach, and regional programming.

Outreach Coordinator at Next Step

"Next Steps"

Our mission is to shatter limitations and elevate aspirations of teens and young adults living with life-threatening diseases during their transition to adulthood and into an adult healthcare system. Our programs are a place where young survivors feel safe enough to laugh, share experiences, and create a sense of community with peers who truly understand their unique challenges. We empower young people with the tools and knowledge they need to begin asking “what’s next?” instead of “why me?

Director of Product Content, Exceptional Lives, Inc.

“Only 10 in the World? Parenting a child with a rare disorder, and creating resources to help other parents find their way through the maze”

In this talk, Julie will share some experiences with her son who has a rare genetic disorder, and describe the things that made it easier as she looked for resources and services. Then she will show a free online resource called Exceptional Lives, which has unique, easy-to-use tools to help families find and apply for services and benefits that can help their child thrive.

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.