- Agenda
- Overview
- Get Involved
- Speakers
- Sponsors
Agenda
NORD is thrilled to invite all participants to a dynamic, patient and family-centered event, featuring content on important topics for the rare community, including but not limited to mental health, debunking the myths of palliative care, how to participate in rare disease research, family planning and decision-making, breakthroughs in research, and more.
9:00 am
Registration, breakfast, networking, and exhibitor booths open
9:50 am
Opening Remarks from NORD President and CEO, Peter L. Saltonstall
10:00 am
Opening Keynote: Resilient & Rare
In this opening session, Connie will share her story of being diagnosed with two rare disorders – factor seven deficiency and pemphigus vulgaris – after living with symptoms for her entire life. Connie was raised in a home and culture in which one did not discuss sickness or challenges or show weakness, and these diagnoses were overwhelming. She will talk about accepting and adjusting to her “new normal” and embracing the realities of living rare, living stronger. She will inspire us with her efforts to improve lives and empower the rare community, compelling us all to join in the rare fight.
Speakers
- Connie MontgomeryBoard MemberCHES Foundation, Inc.
10:20 am
Plenary – Living with Uncertainty
The journey through life with a rare disease is often filled with uncertainty. Often times, this takes a toll on the mental health of people living with rare disease and their loved ones. This session will explore ways to navigate life while coping with uncertainty, feel affirmed that your thoughts and feelings are valid and normal, nourish yourself and have a productive life with contentment amidst the unknowns.
Moderator
Al Freedman, PhD – Psychologist, Freedman Counseling Associates
Speakers
- Col. Steven CoffeeMA, EMCQSL
- Joanne SperandoPatient Advocate, Rare Community MemberPulmonary hypertension
- Maggie Kang, MDLife CoachMaggieKangMD.com
11:05 am
Break
11:15 am
Breakout Sessions
Breakout Room #1
Beyond the Disability or Diagnosis: Rare Disease in Adulthood
Adults living with rare diseases are whole people with relationships, jobs, hobbies and responsibilities beyond managing their care. Many experienced or are still undergoing long diagnostic odysseys that include difficulty finding validation and accessing appropriate care. This experience can negatively affect quality of life and mental health or even be traumatizing. For adults with rare disorders from marginalized communities, the struggles may be even greater. This session will explore the unique challenges of adults with rare disorders and discuss coping mechanisms and approaches to overcoming barriers.
Moderator
Brittany Clayborne, MS, PsyD – Rare Community Member, Author
Speakers
- Lara BloomPresident and Chief Executive OfficerThe Ehlers-Danlos Society
- Rebekah PalmerVice President of Advocacy and AwarenessNext Generation of Cystinosis
Breakout Room #2
Debunking the Myths of Palliative Care
Palliative care is often used as another word for hospice care or end of life care. However, palliative care is appropriate for people with diagnoses that are not terminal and can even be utilized alongside curative treatments! Palliative care helps focus a care team on the goals of the patient and what quality of life means to them while focusing on alleviating burdensome symptoms of disease. Come learn more about the spectrum of palliative care and how your family may benefit from this important service.
Moderator
Danielle Doberman, MD, MPH – Clinical Medical Director for Palliative Medicine, Johns Hopkins Medicine
Speakers
- Shannon McNeil, LMSW, LGSWPediatric Social Worker and Grief TherapistCapital Caring Health
- Beth PapanastasiouRare MomRare Community Member
12:00 pm
Lunch Break
12:10 pm
Networking Lunch
Topics:
- Transitioning from Pediatric to Adult Care
- Shared Decision-making with Your Care Team
- Getting Involved in Rare Disease Advocacy
- Rare Relationships and Dating
- Self-care for Rare Caregivers
- Transitions out of the Home to Independent Living and College
- Newly Diagnosed and Finding a New Normal
- Living Undiagnosed
- Rare Despair, Bereavement, and Anticipatory Grief
- Rare Awareness and Connections on Social Media
- Rare Men
- Rare Teens and Young Adults
- The Rare Sibling Experience
- Parents of Newly Diagnosed Rare Pediatric Patients
- Long-term Survivors
1:10 pm
Laughter Yoga! Presented by the Laughing Lovebugs
1:40 pm
Breakout Sessions
Breakout Room #1
How to Participate in Rare Disease Research
There are many ways that rare disease patients can participate in research. Participating can benefit patients directly while also contributing to scientific knowledge about rare disorders. Many patient organizations drive clinical research forward by maintaining patient registries and biobanks, collecting data for natural history studies and funding research. This session will explore ways that members of the rare community can engage in research efforts to advance cures.
Moderator
Kyra Krass, PhD – IAMRARE Implementation Co-lead, NORD
Speakers
- Pangkong Fox, PhDScience Engagement DirectorCACNA1A Foundation
- Kevin Glinton, MD, PhDAssistant Professor, Department of Molecular and Human GeneticsBaylor College of Medicine, Texas Children's Hospital
Breakout Room #2
Rare in the Family: Family Planning and Decision-making
Since many rare diseases are genetic and diagnosed in childhood, parents often struggle with family planning decisions. Some rare conditions are associated with increased risks during pregnancy and may involve treatment that can impact fertility. This session will explore the important medical, social, psychological, and financial considerations relevant to these personal decisions.
Moderator
Barbara Harrison, MS, CGC – Assistant Professor, Department of Pediatrics, Howard University College of Medicine
Speakers
- Al Freedman, PhDPsychologistrarecounseling.com
- Beth PapanastasiouRare MomRare Community Member
- Teonna WoolfordCo-Founder, Chief Executive OfficerSickle Cell Reproductive Health Education Directive (SCRED)
2:25 pm
Break
2:45 pm
Rare Breakthroughs: Hope Now and on the Horizon
New innovations are helping to advance the diagnosis, treatment and care of rare disease patients. This session will highlight current government initiatives and new technologies that can benefit rare disease patients and their families, now and in the future.
Moderator
PJ Brooks, PhD – Acting Director, Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences (NCATS), NIH
Speakers
- Jennifer Cohen, MDPediatric Medical Genetics SpecialistDuke Children's Hospital & Health Center
- Peter Marks, MD, PhDDirector, Center for Biologics Evaluation & Research (CBER)US Food & Drug Administration
3:30 pm
Closing Keynote Address: Dented, Not Broken
Our concluding session will be a message of hope and inspiration for those who cope with a rare disease diagnosis from someone who is doing just that. Jackson Goodrich is a 17-year old who was diagnosed with a genetic kidney condition called Dent disease when he was 5 years old. Join him as he relates with humor, science, and sentiment about how he is coping with his diagnosis and how scientific advancements, such as gene therapy, shine a bright light of hope on the future of all of us in the rare disease community. We might be dented, but we’re not broken!
Speakers
- Jackson GoodrichTeen AmbassadorDent Disease Foundation
3:50 pm
Closing Remarks/Program Concludes
Welcome to the 2023 Living Rare, Living Stronger NORD Patient and Family Forum!
We are pleased to welcome the rare community back both virtually and in-person in Washington, DC this weekend. We look forward to this a day filled with learning and connection with the rare community.
Download the virtual program guide
We’re celebrating NORD’s 40th Anniversary this week! Click here to learn about our history and decades of achievements – driven by people just like you – as well as what’s in store for the future of our community and how you can play a role.
Take Action with NORD
We are patients, family members, clinicians, and researchers united by a single purpose – solve the greatest challenges and unmet needs for rare disease patients by improving access to care, advancing research, and driving public policy. Together, we are forging a new way forward to answers, treatments, cures, and lives transformed. Support our mission today. Join our nationwide community of supporters, volunteers, and advocates.
Volunteer
Share your time, passions, and expertise to help people living with rare diseases. Tell your story, raise awareness, build connections in your local area, and lend a hand in support of our mission.
Join the Rare Action Network®
Join our nationwide Join the Rare Action Network® and advocate for federal and state policy initiatives that improve rare health.
Join the Policy and Advocacy Taskforce
Are you passionate about rare diseases and public policy? Are you interested in getting more involved in federal or state policy, or both? Our National and Regional Policy and Advocacy Taskforces provide forums for volunteers to be more deeply involved in grassroots advocacy efforts and to fight for legislative solutions. The Taskforces are open to all, including experienced advocates and new volunteers, and we will offer you all the training and tools you need to be successful!
Students for Rare
Start a chapter or club to unite fellow high school and college students to spread awareness and explore career opportunities working in rare disease.
Running for Rare™
Our charity running program pairs runners with rare community members to raise funds and awareness for those living with rare diseases. Runners can join one of the signature marathons or a run of their choice, and rare patients and or caregivers have the opportunity to partner with runners.
Fundraise
Host a do-it-yourself fundraiser. We will help you turn your passion or special life event into a fundraiser that will change the future of rare diseases.
Share Your Voice! Latino/a/x and Hispanohablantes Community Listening Sessions
NORD is hosting a series of in-person and virtual community listening sessions exclusively for Latino/a/x people affected by rare diseases in the United States. We invite you to learn more and spread the word about this important opportunity happening throughout May and early June.
The in-person sessions will take place in New York City, Houston, and the DC Metro Area, with virtual options in each of those locations as well. There is also a national virtual listening session that any Latino/a/x rare patients in the US are welcome to attend.
Speakers
Jose Abdenur, MD
Children's Hospital of Orange County (CHOC)
Children's Hospital of Orange County (CHOC)
Rebekah Barrick, MS, CGC
Children's Hospital of Orange County (CHOC)
Children's Hospital of Orange County (CHOC)
Christopher Barry
Grace Fisher
Grace Fisher Foundation
Grace Fisher Foundation
Michelle Fynan, PhD, LMHC
Dr. Fynan Counseling, Coaching & Consulting
Dr. Fynan Counseling, Coaching & Consulting
Rigo Garcia, MPH
Hemophilia Foundation of Southern California
Hemophilia Foundation of Southern California
Georgene Glass
Dreamsickle Kids, Inc
Dreamsickle Kids, Inc
April Hall, PhD, MS, CGC
University of Wisconsin School of Medicine and Public Health
University of Wisconsin School of Medicine and Public Health
Andre Harris, MSW
Sickle Cell Association of Houston
Sickle Cell Association of Houston
Zhanzhi Hu, PhD
Project Guardian
Project Guardian
Maddie Jewell
Boonshoft School of Medicine
Boonshoft School of Medicine
Taylor Kane
Remember The Girls
Remember The Girls
Donald Kohn, MD
UCLA, CIRM
UCLA, CIRM
Aprill & Brian Lane
Alicia Lawrence, LMSW
National Organization for Rare Disorders
National Organization for Rare Disorders
Amanda Marinoff, MD
UCSF
UCSF
Alice McConnell
Speragen, Inc
Speragen, Inc
Nikki McIntosh
Rare Mamas
Rare Mamas
Viridiana Murillo, MSGDA, CGMBS, MB (ASCP) CM
Cientifica Latina
Cientifica Latina
Stanley Nelson, MD
David Geffen School of Medicine at UCLA
David Geffen School of Medicine at UCLA
Irfan Patel
NORD Rare Action Network (RAN)
NORD Rare Action Network (RAN)
Mike Porath
The Mighty
The Mighty
Elisa Seeger
ALD Alliance
ALD Alliance
Jennifer Shumsky
Founder & Principal JLS Consulting LLC
Founder & Principal JLS Consulting LLC
Esmeralda Vazquez
Magnolia Wang
STAC3.org and NORD Students for Rare Chapter at the University of Pennsylvania
STAC3.org and NORD Students for Rare Chapter at the University of Pennsylvania
Sponsors & Supporters
NORD believes in the power of collaboration. We are so thankful to our incredible sponsors, partners, and exhibitors, without whom we would not be able to offer access to the expert insights, fresh resources, engaging content, and specialized networking opportunities of the Living Rare Forum.
Check out our amazing 2023 event sponsors below!
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Bronze
Featured Forum Sponsors
Supporters & Exhibitors
Nonprofit Exhibitors
Together, We Are Reimagining A Brighter Future For People with Rare Diseases
Forty years of patient advocacy has taught us that not only is our collective voice powerful, but we know that every person in the rare community has the power to shape the future and make a lasting impact. As NORD continues its mission to improve the lives of millions living with a rare disease, we are asking YOU – our community members, partners and colleagues to help us better understand what would make a difference in your rare journey.
We welcome you to join our community discussion to share what changes you would like to see made to help individuals and families impacted by rare disease. Share your story, successes and help us define what everyday progress means to you.
2024 Sponsors
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Silver