2022 Event

Rare Disease Day 2022

This year, our theme is RARE COLLABORATIONS. We want to highlight the many ways that different stakeholders in the rare disease community work together. Our topics include:

WELCOME TO RARE DISEASE DAY 2022

An introduction from the Rare Disease network to our mission, topics for rare disease day, and plans for an in person event next year on February 25th, 2023.

On February 28th we gathered for a live talk with Dr. Jena Krueger. If you missed it, you can still watch the recording on our YouTube channel.

Watch Dr. Krueger's Talk

Health Literacy

When it comes to rare diseases, understanding is power. When it comes to health information, privacy is important. We will discuss aspects of rare disease, genetics, and public health – what protections are in place, what risks exist, and how to be prepared. Topics will include the Genetic Information Nondiscrimination Act (GINA), direct-to-consumer genetic testing, and newborn screening.

HEALTH LITERACY

Join Laura Bedinger, CGC; Hannah Budnik, CGC; Kathleen Delp, LMSW, CGC; and Paula Pietryga, CGC to discuss aspects of rare disease, genetics, and public health including what protections are in place, what risks exist, and how to be prepared.

KIDS AND FAMILIES: VISUALIZING RARE

This short video explores the concept of rare and how many people are affected by rare disease.

Coordinating Complex Care

Care coordination assistance is helpful for families faced with rare diagnoses not only because multiple specialties are often involved but also because traveling out of town for appointments is sometimes necessary. This session will examine the process of coordinating complex care with two different discussions. The role of primary care in rare/complex care coordination and other care coordination methods or programs.

ROLE OF PRIMARY CARE IN COMPLEX CARE COORDINATION

Dr. Trew Stransky is a board-certified pediatrician and Fellow of the American Academy of Pediatrics. Dr. Stransky lives with his wife, and three children, Cade, Leah and Carson. He enjoys spending time with his family, attending his children's sporting events and following all University of Michigan sports! His pediatric interests include sports medicine, nutrition, ADHD management and general newborn care.

Rare Research

Join us to learn more about rare disease research happening throughout Michigan. Various researchers will share why they study rare diseases and what families should know about their research. We will also hear from some students who have participated in rare disease research about their experience and interest in rare disease.

RARE RESEARCH: SEND LAB

Learn more about Dr. Thompson and her work in the Social and Emotional Neurodevelopment Lab.

RARE RESEARCH: PROKOP LAB

Learn more about Dr. Prokop and his work on rare disease research.

RARE RESEARCH: DR. BUPP

Learn more about Dr. Bupp and his work with rare diseases.

RARE RESEARCH: BAKER/WILSTERMANN LAB

Learn more about Dr. Baker and Dr. Wilstermann and their work on mitochondrial rare diseases and rare disease education.

RARE RESEARCH: WILLIAMS LAB

Learn more about Dr. Williams and his work on rare disease research at MSU.

RARE RESEARCH: LI LAB

Learn more about Dr. Li and his work on rare research.

RARE DISEASE RESEARCH: WILLIAMS LAB

Learn more about Dr. Williams and his work on rare disease research at Van Andel Institute.

Barriers

Join us for an important discussion about some of the barriers to care in the rare disease community. Tune into learn more about what Children’s Special Health Services can do to support families caring for a child with a genetic based rare disease. You will also hear an honest discussion about challenges many families face in securing medical services for their child.

CHILDREN'S SPECIAL HEALTH CARE SERVICES

Participating in this important conversation are Lisa Kuiper, RN, BSN, and Becky Doucette, RN, BSN, Public Health Nurses with the KCHD Children’s Special Health Care Services Program. Joining them is Brandi J. Berry, LLMSW, the Program Coordinator for the Kent County Health Department’s Children’s Special Health Care Services and Fetal Infant Mortality Review Programs.

EXTRAORDINARY! SIX LESSONS FOR RARE PARENTS

Written collaboratively by mother and son, Extraordinary! A Book for Children with Rare Diseases opens up a child-friendly discussion about identity, inclusion, and self-concept in light of the challenges and silver linings of living with a rare disease. The gentle lessons draw on the co-author's firsthand experience of growing up with an ultra-rare disease.

Care Collaboration

This session will explore the importance of collaboration within a child’s care team along with adapting therapies and services to fit rare and complex kids. Join us for a conversation with a Board Certified Behavior Analyst discussing the necessity of adapting therapy to serve each individual child, but also how critical it is to work together with other members of a child’s team. Our second video will feature the Assistant Superintendent of Special Education Services at Cedar Springs Public Schools. This video will explore the importance of collaborating with outside therapies and services, adapting education to fit the needs of rare and complex kids, and ways parents can advocate for the unique educational needs of their child.

INDIVIDUALIZING AND ORGANIZING A MULTI-SPECIALTY CARE TEAM

Join Shannon’s conversation with Jennifer Swets, a Board Certified Behavior Analyst. She has experience working with individuals with disabilities ranging greatly across ages, abilities, and types of communication. Jen currently works for PBS in West Michigan, providing in-home behavior analytic services.

COLLABORATING WITH OUTSIDE THERAPIES AND SERVICES

Join Shannon’s conversation with Stacie Voskuil, Assistant Superintendent of Student Services at Cedar Springs Public Schools. Stacie has dedicated her life to leading and advocating for people with disabilities and making systemic changes in school districts to promote inclusion for all. She has served in large inner-city districts as well as small rural districts.

WIMEE: THE RARE DISEASE DAY EPISODE

Wimee is a fun lovable robot that inspires kids to learn through creativity. Join Wimee and friends for wacky wordplay, silly songs, and playful conversation in an interactive show that kids help bring to life!