Nathan Grant is the twin brother of Nik Grant, who has a rare, genetic condition called MPS II (also known as Hunter syndrome). From Cincinnati, OH, Nathan is currently a second-year medical student at Harvard Medical School. Outside of school, Nathan is the Founder and President of Siblings with a Mission, an international organization that supports siblings of people with complex health conditions and their families. He also serves on the Board of Directors of Project Alive and is the author of several research articles on rare diseases, including the book The MPS Sibling: Short Stories for Brothers and Sisters. Inspired by his brother, Nathan hopes to help improve outcomes for people with rare conditions and their families through clinical care, research, and advocacy.

Kevin is the Vice President and a Board Member for Rare New England. Kevi n is a seasoned drug developer with outstanding people skills. During his 30-year career with Pfizer, Kevin held many varied roles that have given him a broad and deep understanding of the Drug Discovery and Development Process.

Kevin has a passion for helping people see the “bigger picture” so that they can achieve their most important goals. Much of his career was spent teaching other colleagues and stakeholders how R&D works. In 1998, he and a colleague established Pfizer Research University (PRU) which helped expert drug researchers and developers to teach what they knew. He later led several development teams as Project Manager, including a few rare disease projects. Kevin retired as the head of the Portfolio and Project Management Operations Excellence Group.

After retiring from Pfizer, Kevin started Salem Oaks®. Salem Oaks’ purpose is to empower patients to shape the future of medicine® by providing educational programs about Drug Discovery and Development. They work with patient organizations and disease foundations to develop educational tools and programs that they can offer to their communities. The goal is to help the non-profits build capacity. Salem Oaks’ primary focus is helping people learn the inside story of how drugs are discovered and developed. They do this through online and live courses and through their two podcasts. Kevin is also the host of the Raising Rare, LEMS Aware, and Improbable Developments podcasts.

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.

With a master’s degree in physical therapy, Catherine spent twenty years successfully working for top Fortune 500 pharmaceutical/biotech companies such as Abbott Laboratories, Biogen Idec, and Genentech. She has been consistently recognized for her leadership, and teamwork and collaboration.

Catherine is an innovator and has a keen eye for seeing what doesn’t yet exist. She created the first PT internship program at Westfield State University and non-branded disease state educational programs for healthcare providers before they existed in the pharma/biotech industry. She consistently creates long lasting partnerships with closed academic institutions and with diverse organizations and people throughout her community. After being diagnosed with Severe Crohn’s Disease, Catherine healed herself by changing her lifestyle and utilizing a holistic approach. Through her personal healing journey, she became a certified health coach at the Institute for Integrative Nutrition. During Covid, she applied her learnings, collaboration skills and passion to create a novel Wish of Wellness Program with A Wish Come True and Raffa Yoga in Cranston. This program was designed to help parents and children struggling with mental health while living with rare disease in the midst of a global pandemic. The program was a life savor for people living with rare disease during that time.

Catherine and her family have been severely affected by the Opioid Crisis through her brother’s twenty-year battle with addiction to his fatal overdose. Catherine sees how the gaps in our healthcare systems can negatively impact everyone’s well-being. Especially those dealing with substance use and mental health. Through her non-profit, Integrative Healthcare Solutions, Catherine sets out to create a new healthcare organization that leads the way to greater collaboration, transforms lives and brings healing to all communities. The mission of Integrative Healthcare Solutions is bringing holistic healing and prevention strategies to people struggling with substance use and mental health to Rhode Island’s diverse communities. To learn more visit www.ihsri.org

Dr. Shepard is a NH native who graduated from Plymouth State University before attending University of Maryland’s School of Medicine. She returned to New England to complete her Preventive Medicine residency and Master’s in Public Health at University of Massachusetts Medical School in Worcester.

Dr. Shepard is very active in the rare disease community in New Hampshire. She is the President of the NH Rare Disorders Collaborative and is a leading member of the legislative NH

Rare Disease Advisory Council. In addition, Dr. Shepard was chair of the NH Medical Society’s

Education Committee and has participated in statewide initiatives to decrease medication costs. Dr Shepard has experience working within healthcare, government, and nonprofit organizations and is excited to bring her passion for education and patient advocacy to NERGN and the IOD. She lives in central NH with her husband, teen sons, and assorted barnyard animals.

Mr. Ead has been a pediatric nurse for over 40 years. More than half of that time has been spent in the care of children and families living with chronic conditions. Specifically this has been in the field of Nutrition Support as it relates to intestinal failure. He has held a number of national leadership positions over his career and has held a variety of teaching positions including Senior Clinical Teaching Associate for the Warren Alpert School of Medicine at Brown University. He recently completed a term as Section Leader for the Nutrition Support Nursing Section of the American Society for Parenteral and Enteral Nutrition (ASPEN) and is currently a Director on the ASPEN Board of Certification for Nutrition Support (NBNSC).

My name is Abby Antwi, and I am a psychotherapist. In my practice, I strongly believe that the healing process is a collaborative effort that requires honesty, care, and encouragement without judgment. As an active therapist, I combine my experiences, education, creativity, and sense of humor to provide counseling with a down-to-earth and realistic approach.

I have extensive experience in counseling clients who struggle with various mental health issues such as depression, anxiety, post-traumatic stress disorder (PTSD), substance use disorders and more. My diverse background allows me to effectively work with different groups of individuals as a social worker.

I obtained both my Masters and Bachelors degrees in Social Work from Rhode Island College. Throughout my career as a psychotherapist and clinical social worker in community settings as well as group counseling environments, I have worked both inpatient and outpatient settings.

Kathy works as the RIPIN Resource Coordinator at the Office of Special Needs, Rhode Island Department of Health RIDOH. She is a Certified Community Health Worker and has extensive experience helping others navigate Rhode Island’s systems of supports for children and adults with special needs. A longtime mentor to the RIDOH Youth Advisory Council, Kathy guides new leaders and is very proud of their growth through positive youth leadership development activities. Kathy coordinates RI Medical Home Portal (MHP) https://ri.medicalhomeportal.org/ a website that provides current vetted tools and a RI Service Directory for providers, caregivers and families caring for children with special needs. Kathy understands the importance of having reliable information available 24/7 and wishes this resource was available 31 years ago when her eldest son was diagnosed with Tuberous Sclerosis. Kathy holds a Bachelor of Science degree from Charter Oak College.

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.

ANNETTE M. HINES is a founding partner of Special Needs Law Group of Massachusetts, PC, in Framingham, and founder of Special Needs Family Services, Inc. She has practiced in the areas of special needs law, elder law, and estate planning for more than twenty-five years. She received her B.A. from the University of Vermont, her M.B.A. from Suffolk University, and her J.D. from Howard University School of Law. Ms. Hines has been recognized as a “Distinguished Citizen” by The Arc of Massachusetts, cited for public service by the Massachusetts State Senate and House of Representatives, and named to the Massachusetts “Super Lawyers” list every year since 2014. She was president of the Massachusetts Association of Women Lawyers from 2008 to 2009, was selected for the 2016 Top Women of Law by

Massachusetts Lawyers Weekly, and is a contributing member of many organizations that serve the disability community. Ms. Hines is sought after to speak on topics of disability trusts, planning and benefits. She authored the Amazon bestselling memoir Butterflies and Second Chances in 2018 and is the host of the popular podcast Parenting Impossible: The Special Needs Survival Podcast. Amongst other awards and honors, in 2021, Ms. Hines was honored to be chosen by her peers to receive the Theresa Award for outstanding advocacy in the disability community.

Susan Linn has been serving nonprofit organizations for more than 25 years. Susan’s early career days as a direct service worker for struggling children and families continue to influence her leadership of programs and services today. Her leadership roles include two decades in upper management, fundraising leadership, and chief executive roles for schools, municipalities, higher education, and nonprofits. A graduate of Cornell University and San Diego State University, she has served on several Boards. When not at work, Susan values her time with her 2 children and many pets, especially time in the outdoors. Susan joined Epilepsy Foundation New England in July 2016.

President of the New England Connection for PKU and Allied Disorders, Inc. Denise is the extremely proud mother of two amazing children, Caroline who is 22, and Shane, who is a 20. Both of her children, as well as her husband of over 28 years, Desi, are the lights of her life. Thanks to the Newborn Screening Program, Caroline was diagnosed with PKU. Denise immediately became involved in the PKU community, and her and her family do whatever it takes to support each other and their PKU and Allied Disorder (AD) extended family, including its amazing care providers. Denise is currently the President of the New England Connection for PKU and Allied Disorders, Inc. (NECPAD). She coined NECPAD’s most recent mantra, “Alone we are rare - Together we are family, and does all she can to fully support PKU research and a cure and also strives to meet many individual’s needs in PKU/AD community on a volunteer basis, alongside her fellow, selfless and committed NECPAD Board of Directors. When she’s not volunteering her time within the PKU/AD community, co-teaching a class with the amazing Dr. Harvey Levy at Harvard Medical and MIT, serving on the Health and Human Service’s Advisory Committee on Heritable Disorders in Newborns and Children Evidence Review Subcommittee, lobbying for adequate Medical Nutrition health care coverage on both the state and federal levels, co-chairing Boston’s Lifting the Limits for PKU fundraising event, actively engaging with nonprofits such as the National PKU Alliance (NPKUA), National PKU News and Patients and Providers for Medical Nutrition Equity (PPMNE), Denise works full time for the family’s plumbing and real estate businesses as Chief Financial Officer and she is also Partner of a women-owned law firm, Casali & Queally, LLC. Denise sincerely believes that “everyone has something” but remaining positive and making the most of life is totally up to you, and that empathy and compassion are the greatest qualities we can collectively foster as a community, rare or otherwise.

Tara is the mother of 3 children: Andrew, 15, who is has an undiagnosed neuromuscular condition which keeps him very limited in a physical capacity; Shamus, 11, and Grace, 8. Tara has expertise in dealing with systems of care for medically fragile children, as she has been caring for her son Andrew who is trached, on a ventilator, gtube fed, and non-ambulatory. She has been working for RIPIN for more than 10 years. In her role, she assists families with children with special health care needs to receive family-centered care, access services available to them and help them advocate at the local, state and national level to create policies and awareness around needs and accessibility. Tara sits on numerous committees and workgroups providing the parent perspective and advocating for families to create better outcomes. In November of 2018, she was awarded RI Caregiver of the Year for her role as a mother toAndrew and her tireless advocacy for all RI families. She holds a Bachelor of Science Degree in Special Education and previously taught at Toll Gate High School.

I’ve been working with both children and adults with disabilities for the past 40 years in a variety of capacities including direct service with autistic individuals, DCYF, Social Security determination, and I have been the supervisor of the eligibility unit for the division of developmental disabilities for over 10 years.

Susan Hayward MSW LCSW is the Administrator of Transition Services at the Division of Developmental Disabilities, a Division of the RI Department of Behavioral Healthcare, Developmental Disabilities and Hospitals. Susan received her Masters Degree and License in the field of Social Work and has worked with adults with intellectual/developmental disabilities for 25 years. She currently works collaboratively with state partners and advocacy organizations to ensure the transition process from school to adulthood is responsive to the needs of transitioning youth.

Rachel Rogovin is the Director of Clinical Services at Team IMPACT, a national non-profit serving children with serious illness and disability. Prior to this, she was a pediatric oncology social worker at Hasbro Children’s Hospital. Rachel currently serves as President-Elect of the Association of Pediatric Oncology Social Workers.

Sarah Bohrer is a pediatrician who has been on the board of TCAPP (The Coalition Against Pediatric Pain) since 2021. Sarah received her medical degree from SUNY Buffalo School of Medicine and completed her pediatric residency at North Shore University Hospital on Long Island, NY. She and her three children are living with hypermobile Ehlers-Danlos Syndrome. Sarah became passionate about advocating for children and families suffering from rare diseases and chronic pain after experiencing the difficult process of diagnosis and management of these conditions first hand. She has a particular interest in helping children and families with the mental health challenges that can result from living with chronic illness, medical PTSD, and improper or delayed diagnosis. She is currently opening a practice dedicated to improving mental health and quality of life for children and families affected with chronic pain and chronic illness, particularly Ehlers-Danlos Syndrome.

Paige Breton is the director of camper admissions at the Hole in the Wall Gang Camp - a New England and Mid-Atlantic based non-profit dedicated to providing a “different type of healing” to seriously ill children and their families. She and her team work closely with Camp’s medical staff to help families get connected with the healing power of Camp’s community through onsite Camp programs.

Beth Kline joined Hole in the Wall Gang Camp in May of 2023 as Admissions Coordinator. A Serious Fun camp, designed to provide seriously ill children with “a different kind of healing,” Beth has supported camper attendance throughout the summer and fall weekend programming. She has an extensive background in child development, programming, and community partnerships. Beth is excited to explore the possibilities that lie within Camp’s partnerships with hospitals/clinics through future programming.

With over 35 years of communications, marketing, sales and public relations experience, Barbara Sica has utilized her talents to expand brand recognition and services for organizations ranging from small family-owned groups as well as start-up funded to large, internationally traded multi-million

publicly traded companies. She has been involved with Angel Flight NE for over 25 years as a volunteer, senior leadership advisor, and development director while spearheading campaigns including outreach to rare and ultra-rare organizations with the goal to collaborate, cultivate and foster relationships while educating

providers and patients about Angel Flight NE’s mission. She joined the Angel Flight NE team in a more active role spearheading the nonprofits marketing, communications, event management, and fund development activities in 2010.

Angel Flight NE is a nonprofit that coordinates FREE air transportation for children and adults who need to travel to access specialized medical care outside of their geographic area. Founded in 1996,

Angel Flight NE has coordinated more than 105,000 missions of healing and hope for patients who have traveled 15+ million miles to 750+ medical facilities throughout the United States.

Barbara understands firsthand the importance of accessing critical specialized care for a positive outcome. One of her children was diagnosed with a rare neurological debilitating condition as an infant requiring specific treatments and multiple physician / medical facility visits often bi-weekly. Barbara was fortune that her son had access to renowned medical care less than an hour from their home, but she often reflects on the fact if her child did not have access to the specialized care he needed to develop and thrive what the ultimate outcome would have been.

She resides in Wilmington, MA with her husband, two sons and their Scottish Terrier rescues - Bentley and Kolby. A graduate of Salem State University, Barbara holds a Bachelor of Science in Business Administration with a minor in Marketing & Public Relations as well as a certificate in Graphic Design and Investor Relations. She remains active in her community serving as a volunteer and board member with many nonprofit groups.