The agenda will be updated regularly as we confirm additional speakers and session information. All times are Pacific Daylight Time.
THURSDAY, MAY 20
8:00-8:15 a.m. Welcome & Sponsor Recognition – Patricia Wood, founder and president, NBIA Disorders Association
8:15-9:15 a.m. Developing Your Super Power! Advocating for your Child – Introduction: Mary Ann Roser
Keynote Speaker – Betsy Furler, Founder and CEO, For All Abilities
During her son Henry’s life, Betsy learned that she had to be his best advocate. Though given a shortened life expectancy, Henry lived a glorious life for almost 23 years – including being one semester away from a college degree. In this session, Betsy shares her tips and tricks on advocacy to navigate the tricky medical and educational systems that often want to limit children who are different than others.
9:30-10:30 a.m. Stress Rx: Stress Resilience and Sensory Care – Introduction: Mary Ann Roser
Keynote Speaker – Cristol Barrett O’Loughlin, CEO, Angel Aid Cares
From having what seemed like the perfect family to losing three brothers, mental health advocate Cristol Barrett O’Loughlin draws on personal tragedy to ease the emotional suffering of others. Her inspiring stories of courageous #RareMothers, reveal the secrets to sustainable self-care and wellness. With the onslaught of COVID-19, we are collectively living with the realities and stressors of home/work life balance, homeschooling, medical uncertainty. Backed by University of California, San Francisco, stress research, Cristol illustrates the purpose of our pain. With guided meditations and her signature infectious enthusiasm, Cristol gently nudges us to move beyond asking, “Why me?” to “What can I do to help others by healing myself first?”
9:30-10:30 a.m. MPAN families clinical group meeting with Drs. Susan Hayflick, Penny Hogarth, Jenny Wilson and Allison Gregory, genetic counselor – Facilitator: Dr. James Bourgeois
Leading experts on MPAN from the Oregon Health & Science University share information on the latest clinical information in treating MPAN disease symptoms and other therapies. They also answer questions conference participants submitted before the conference.
10:30-10:45 a.m. Yoga – Sebastian Dimond
Yoga helps you become more flexible and improve balance and coordination. Suitable for all abilities and anyone wanting to feel present and relaxed. Most of our postures will be on the floor so wear comfortable clothes. Grab a mat and join us in these judgment-free yoga practices!
10:45-11:45 a.m. Oral Health Q&A: Have your oral health questions addressed by our panel of experts – Introduction: Mary Ann Roser
Speakers: Dr. Mark Karakourtis, oral surgeon, Austin, Texas; Dr. Jerome McMahon, director of University of Cincinnati Medical Center Dental Center; and Dr. Nicole White, staff dentist, University of Cincinnati Dental Center
10:45-11:45 a.m. Meet Up for Young Adults with NBIA (social) – Facilitator: Rowan Strange, Living our Visions Inclusively
10:45-11:45 a.m. Meet up for NBIA Grandparents, Extended Family Members and Close Friends – Facilitator: Sara Buikema, MSW, LCSW
11:45 a.m.-12:00 p.m. Meditation – Jessica Hildebrand
The benefits of meditation are proven to include: better control of thoughts and emotions, lower stress and anxiety, improved focus and concentration, increased happiness and a healthier experience of life. If you have not tried it yet, come breathe with us. All levels welcome!
12:00-1:00 p.m. Meet up for Families by Disorder
Opportunity to speak openly with others living with or caring for someone who has the same disorder. We ask that those with other affiliations, such as researchers, industry representatives, etc., not attend these sessions.
- INAD/PLAN – Facilitator: Dr. Erica Dale
- BPAN – Facilitator: Amber Denton
- MPAN – Facilitator: Dr. James Bourgeois
- FAHN – Facilitator: Michelle Whalen
12:00-1:30 p.m. PKAN families clinical group meeting with Drs. Susan Hayflick, Penny Hogarth, Jenny Wilson and Allison Gregory, genetic counselor – Facilitator: Amy Karakourtis
Leading experts on PKAN from the Oregon Health & Science University share information on the latest clinical information in treating disease symptoms and other therapies. They also address questions conference participants submitted before the conference.
FRIDAY, MAY 21
7:45-9:45 a.m. BPAN families clinical group meeting with Drs. Susan Hayflick, Penny Hogarth, Jenny Wilson, Laura Adang, Ittai Bushlin and Allison Gregory, genetic counselor – Facilitator: Amber Denton
Leading experts on BPAN share information on the latest clinical information in treating disease symptoms and other therapies. They also answer questions conference participants submitted before the conference.
8:00-8:45 a.m. The History of Patient Engagement in Regulatory Affairs in the United States – Introduction: Meg Talley Dyer
Speaker: Danielle Boyce, MPH, vice president of data intelligence and governance at Unisys
In 2021, patient advocacy groups drive research and innovation in the rare disease space. But that wasn't always the case. This presentation explores the history of patient advocacy in the United States and describes current opportunities for patient advocates to get involved in all aspects of rare disease research.
9:00-9:30 a.m. Gastrostomy Tube (G-Tube) and Nutrition Support – Introduction: Meg Talley Dyer
Speaker: Dr. Maria Ines Clavell, University of Pittsburgh Medical Center
Making the decision to get a feeding tube for your child can be challenging and emotional. Maria Ines Clavell, MD, director of the g-tube clinic for children and adolescents at UPMC Children’s Hospital will be joining us to discuss g-tubes and nutrition. Addressing the most commonly asked questions, Dr. Clavell will discuss the types of g-tubes, benefits, what to consider and when to explore this option with your medical team, common misconceptions, how the surgery is performed, what to expect after the procedure, and nutrition.
9:30-9:45 a.m. Meditation – Jessica Hildebrand
The benefits of meditation are proven to include: better control of thoughts and emotions, lower stress and anxiety, improved focus and concentration, increased happiness and a healthier experience of life. If you have not tried it yet, come breathe with us. All levels welcome!
9:45-10:30 a.m. Importance of Natural History Studies in Rare Diseases – Introduction: Meg Talley Dyer
Speaker: Dr. Eric Sid, Office of Rare Disease Research, National Institutes of Health
A natural history study is intended to provide a detailed description of how a disease affects people with the disorder. Natural history studies are often the first step in developing a research program for a disease because they help provide the foundational science that informs how to care for people, identify and measure signs and symptoms that potential therapies can treat or modify, and help us design clinical trials that are likely to provide good quality information on how candidate therapeutics affect the disease. This presentation will provide an introduction to natural history study design and content, and how this information can be used to advance research.
10:30-10:45 a.m. Yoga – Sebastian Dimond
Yoga helps you become more flexible and improve balance and coordination. Suitable for all abilities and anyone wanting to feel present and relaxed. Most of our postures will be on the floor so wear comfortable clothes. Grab a mat and join us in these judgment-free yoga practices!
10:45 a.m.-12:15 p.m. INAD/PLAN families clinical group meeting with Drs. Paul Kotzbauer, Darius Adams, Susan Hayflick, Penny Hogarth, Jenny Wilson and Allison Gregory, genetic counselor – Facilitator: Dr. Erica Dale
Leading experts on INAD/PLAN share information on the latest clinical information in treating disease symptoms and other therapies. They also address questions conference participants submitted before the conference.
10:45-11:45 a.m. Creating a Future Care Plan – Introduction: Meg Talley Dyer
Speaker: Mary Anne Ehlert, founder, Protected Tomorrows, Inc.
Protected Tomorrows, Inc. is dedicated to enhancing the lives of families with members who have special needs. Protected Tomorrows helps ensure the well-being of a loved one by creating a Future Care Plan™ that addresses the many concerns of these families, such as future care funding, government benefits, legal considerations, residential options, employment opportunities, recreational choices, education options and family communication.
10:45-11:45 a.m. Meet-Up for PKAN Families – Facilitator: Sarah Doerr
Opportunity to speak openly with others living with or caring for someone who has the same disorder. We ask that those with other affiliations, such as researchers, industry representatives, etc., not attend these sessions.
10:45-11:45 a.m. Adult Individuals with NBIA (18+) Sharing Session – Facilitator: Tina Cadavid, LISW
(NBIA Adults only – no family members)
12:00-1:00 p.m. Social Hour – Facilitator: Meg Talley Dyer
Open time to talk and catch up with other NBIA families.
SATURDAY, MAY 22
8:00-9:30 a.m. BPAN Research Update – Facilitator: Paul Stronski
- Young Ah-Seo, Ph.D., University of Michigan
- Penny Hogarth, M.D., Oregon Health & Science University
- Robin Ketteler, Ph.D., University College London
- Paul Lockhart, Ph.D., Murdoch Children's Institute
8:00-8:45 a.m. INAD/PLAN – Opportunities for Families in Research – Facilitator: Dr. Erica Dale
Family/patient involvement is especially important in the quest to find treatments for rare disease. There are many ways PLAN/INAD families can get involved with research in order to help researchers and scientists better understand INAD and its impact on patients and families. Join us for an interactive discussion with Allison Gregory from Oregon Health and Science University, who will discuss the importance of the PLANready Natural History Study and provide information about enrollment. Also, families will hear from Dr. Dan Paull, PhD at the New York Stem Cell Foundation Research Institute about the INAD Biobank, its impact on advancing research, and how to contribute to the collection of blood and tissue samples. There will also be time for Q & A from participants.
8:30-9:15 a.m. Prairie Haus – From Vision to Reality: Charting a Family Led Path for Independence and Inclusivity – Introduction: Mary Ann Roser
Speakers: Susan Wallitsch and Mary Anne Oemichen
From Vision to Rendering to Reality: Join the co-founders of Home of Our Own, a non-profit corporation that was instrumental in creating Prairie Haus, a first of its kind integrated and affordable rental community in rural Wisconsin. Find out how this grass roots group of dedicated families began with an idea and the willingness to work hard, and ended up solving the problem of where their adult children with autism and other disabilities could live and comfortably call “home.” In this presentation, you will learn how the group formed and operated, how it created strategic partnerships to make this $9 million project a reality and what the future holds for Prairie Haus’ residents.
9:00-9:30 a.m. INAD/PLAN – RT001 Development Efforts and the INAD Rating Scale (INAD-RS) – Facilitator: Dr. Erica Dale
A phase 2/3 of a study* to evaluate the safety and efficacy of Retrotope’s investigational drug candidate RT001 in patients with INAD is underway. Dr. Paldeep Atwal and Sarah Endemann from Retrotope will be joining us to discuss RT001’s mechanism of action and provide an overview of the clinical trial study design. They will also share information about their INAD prospective natural history study and their efforts to develop the INAD-RS, a novel neurological assessment scale for INAD, that demonstrates strong correlation with disease severity and disease progression. *Clinical trial results are not expected until mid-2021. No questions will be answered pertaining to the results of the study.
9:30-10:15 a.m. Path to Success: Advocating for your Child at School – Introduction: Mary Ann Roser
Speakers: Valerie Theile, M.Ed, and Lenora Nardelli, M.Ed, School Intervention Specialists, Cincinnati Children’s Hospital Medical Center
Across the United States and around the world, school systems look different. The path to navigate these school systems and advocate for a child’s school success can sometimes be a long and windy road, with the possibility of road bumps, detours and even dead ends. Come travel the road to success as we explore tools and resources to help you be your child’s best advocate. The panel discusses types of supports and educational plans needed for success, as well as ways to creatively collaborate with the school when roadblocks arise. Speakers also discuss how to maintain a positive relationship amid challenging situations.
9:45-11:00 a.m. INAD/PLAN – Research Overview and Updates Panel with Q&A opportunity for Families – Facilitator: Dr. Erica Dale
In this panel session, INAD/PLAN families will hear directly from scientists who are actively conducting research towards understanding the disease mechanisms of INAD and advancing therapeutic treatments for PLAN/INAD. Panelists include: Drs. Manju Kurian and Ahad Rahim from UCL, who will provide an update on their gene therapy research; Drs. Hugo Bellen and Guang Lin from Baylor College of Medicine, who are working to understand the pathogenic mechanisms of INAD in order to advance gene and cell therapies and towards the development of treatments via compound screening in fly, mouse and cell models. Dr. Dan Paull, PhD from the New York Stem Cell Foundation Research Institute will be joining to share updates on the CRISPR gene editing and compound screening initiatives being worked on in collaboration with the INADcure Foundation. And Dr. Paul Kotzbauer will provide an update on his research to develop treatments that restore PLA2G6 enzyme function in INAD.
9:45-11:15a.m. PKAN Research Update – Facilitator: Amy Karakourtis
- Susan Hayflick, M.D., Oregon Health & Science University (OHSU)
- Suzanne Jackowski, Ph.D., Scientific Advisory Board, CoA Therapeutics
- Suh Young Jeong, Ph.D., OHSU
- Penny Hogarth, M.D., OHSU
10:00-11:30 am. Meet Up for NBIA Siblings – Facilitator: Emily Holl, Director at Siblings Support Project
Sibshops are pedal-to-the-metal events where school-age siblings of children with special developmental and health concerns will meet other sibs, have fun, laugh, talk about the good and not-so-good parts of having a sib with special needs, play some great games, learn something about the services their brothers and sister receive, and have some more fun. Sibshops are special spaces just for siblings! They are celebrations of the many lifelong contributions that siblings make to their families and communities. Children age 7-15 are invited to attend this special event!
10:15-10:30 a.m. Yoga – Sebastian Dimond
Yoga helps you become more flexible and improve balance and coordination. Suitable for all abilities and anyone wanting to feel present and relaxed. Most of our postures will be on the floor so wear comfortable clothes. Grab a mat and join us in these judgment-free yoga practices!
10:30-11:15 a.m. I'm Confused! Why more data collection? What is the value in Collecting and Sharing Usable Patient-Reported Data on the Patient’s Terms? – Introduction: Mary Ann Roser
Speaker: Megan O’Boyle, Patient Engagement Lead, RARE-X
We will learn the value of having patients/caregivers contribute data to a cross-disease database annually and how it will complement data being collected in natural history studies and other researcher sponsored studies.
11:15-11:30 a.m. Meditation – Jessica Hildebrand
The benefits of meditation are proven to include: better control of thoughts and emotions, lower stress and anxiety, improved focus and concentration, increased happiness and a healthier experience of life. If you have not tried it yet, come breathe with us. All levels welcome!
11:30-12:15 p.m. Storytelling and Advocacy 101: Turn your story into action! – Introduction: Mary Ann Roser
Speakers: Christina Brundage and Lindsey Cundiff, Rare Disease Legislative Advocates (RDLA)
As a rare disease family/patient, you have a unique story to tell. Through storytelling and advocacy, we can raise awareness, educate the public, and influence policy makers to help spur meaningful action. Join Christina Brundage and Lindsey Cundiff from Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Disease, to learn about issues impacting rare diseases, the many types of advocacy, and tips for sharing your personal stories. Learn how you can get started and where to find helpful resources designed to help get your message out – all in a way that is comfortable to you!
12:00-1:00 p.m. MPAN Research Update – Facilitator: Dr. James Bourgeois
- Marta Skowronska, M.D., Ph.D., Institute of Psychiatry and Neurology, Poland
- Susanne Schneider, Ph.D., University College London
12:30-1:30 p.m. NBIA Disorders Association 25th Birthday Celebration – Patricia Wood/Mary Ann Roser
Join DJ Mike Cohn for a dance party extravaganza. Prizes will be awarded to best dancers and NBIA dancers' video will be shown.
SUNDAY, MAY 23
8:00-9:00 a.m. FAHN Research Update – Facilitator: Mary Van Der Wielen
- Jinkai Luo, M.D., University Medical Center, Rostock, Germany
- Sunita Venkateswaran, M.D., University of Ottawa, Canada
8:00-9:00 a.m. Fundraising and Awareness Campaigns in a Virtual World – Introduction: Meg Talley Dyer
Speakers: Amber Denton, chair, NBIA Disorders Association Development Committee, Allison DiPerte, Social Media & Fundraising Manager, INADCure Foundation, and Emily Rogath Steckler, Co-Founder, Bisous for Léo.
Did you know that you can help NBIA Disorders Association and the INADcure Foundation with their mission to cure all NBIA disorders? This work is not possible without critical fundraising and awareness campaigns from our families and their communities. This session will give you virtual tools and strategies to begin or grow your fundraising endeavors. Learn how to use social media, affiliate marketing and personal connections to help you reach your goals and direct critical resources to the NBIA Disorders Association and the INADcure Foundation.
9:00-10:00 a.m. FAHN families clinical group meeting with Drs. Sunita Venkateswaran, Susan Hayflick, Jenny Wilson and Allison Gregory, genetic counselor – Facilitator: Mary Van Der Wielen
Leading experts on FAHN share information on the latest clinical information in treating disease symptoms and other therapies. They also address questions conference participants submitted before the conference.
9:15-10:00 a.m. Helpful Apps for Children and Families with Special Needs – Introduction: Meg Talley Dyer
Speaker: Daryn Ofczarzak, M.A., CCC-SLP, Speech and Language Pathologist, Easter Seals of Greater Houston
Get a brief introduction to apps for communication, entertainment, education and mental health for children with special needs and their families. In addition, hear tips and tricks on how to use these apps and a tour of bridgingapps.org resources (https://www.bridgingapps.org), including the App Search Tool to help you find apps for you and your family
9:15-10:00 a.m. Adaptive Equipment – Introduction: Mary Ann Roser
Speaker: Canna Stanley, M.S. OTR/L
Adaptive equipment is any tool, device, or machine used to assist with completing the activities of daily living. Adaptive equipment exists in a broad range of categories, including mobility, seating, feeding, bathing, toileting, and even recreational equipment! This workshop will look at common types of adaptive equipment, factors/considerations in selecting equipment, and funding sources.
10:00-10:15 a.m. Meditation – Jessica Hildebrand
The benefits of meditation are proven to include: better control of thoughts and emotions, lower stress and anxiety, improved focus and concentration, increased happiness and a healthier experience of life. If you have not tried it yet, come breathe with us. All levels welcome!
10:15-10:45 a.m. – Small Molecule and Gene-based Therapeutic Strategies for PKAN – Introduction: Meg Talley Dyer
Speaker: Choukri Ben Mamoun, Ph.D., Yale University
Dr. Mamoun won the “Best Presentation” award in Yale Lifesciences PITCHFEST 2020 for his work on a possible cure for pantothenate kinase-associated neurodegeneration (PKAN).
10:45-11:00 a.m. Yoga – Sebastian Dimond
Yoga helps you become more flexible and improve balance and coordination. Suitable for all abilities and anyone wanting to feel present and relaxed. Most of our postures will be on the floor so wear comfortable clothes. Grab a mat and join us in these judgment-free yoga practices!
11:00 a.m.-12:00 p.m. – NBIA Overview – Introduction: Patricia Wood
Speaker: Dr. Susan Hayflick, director, NBIA Disorders Association Scientific & Medical Advisory Board
In this session, Dr. Hayflick will provide an overview of the NBIA research landscape, commentary on the diverse impacts of COVID-19 on our community and discuss the advances we may see near and far in NBIA science and clinical care.
12:00-12:15 p.m. Closing with Conference Video Highlights – Patricia Wood, President
Memorial Tribute available for viewing anytime during the conference.
Conference Photo Booth available for use anytime during the conference!