In anticipation of Rare Disease Day 2022, this week we are featuring a very special collaborative edition of #ScienceSaturday with our friends from the Complex Lymphatic Anomalies community! Our rare diseases may be drastically different, but find out what we have in common and how rare disease communities can drive research for better care and treatments.
This mixed-media piece represents a collaborative effort between many rare disease stakeholders such as parents, clinicians, scientists and medical students from across North America. Born from an informal conversation between Dr. Dominique Lessard, Chief Science Officer of KIF1A.ORG, and Dr. Kimberley Steele, surgeon-scientist and leader in the Complex Lymphatic Anomalies community, this project centers around a shared message: while two rare diseases may seem different on paper, the challenges and hurdles we face in our respective communities are common and intertwined. Together with the help of incredible medical students from The University of Pennsylvania, McGill University and John Hopkins University School of Medicine we are proud to present to you this Science Saturday special edition: A Collaboration of RARE + RARE.
Introduction to Rare Diseases and Medical Student Groups
Medical students from across North America present to you their “WHY”
Why are medical students taking an interest in rare disease? And, what motivated them to initiate forming Rare Disease Interest Groups (RareDIGs) at their respective academic institutions?
In this segment, you will learn what medical students from McGill University, University of Pennsylvania and Johns Hopkins University School of Medicine are doing to raise awareness and shine a light on rare disease. Additionally, each medical student gives a brief overview of the goals and missions of their RareDIGs.
- Featured medical students: Vinay Ayyappan from University of Pennsylvania, Michael Maalouf from McGill University, Harisa Spahic and Una Choi from Johns Hopkins University School of Medicine
How Did This Special Episode of Science Saturday Come to Be?
Together with the help of the incredible medical students we share our Science Saturday special edition: A Collaboration of RARE + RARE
In this segment, Dr. Dominique Lessard, Chief Science Officer of KIF1A.ORG and Dr. Kimberley Steele, a surgeon-scientist, former Director of Patient-Led Research at the Lymphangiomatosis & Gorham’s Disease Alliance, mom of a child with Kaposiform Lymphangiomatosis and founder of CaRAVAN – A Collaborative Research Advocacy for Vascular Anomalies – share the motivation behind creating this special edition of Science Saturday.
In 2020, two rare disease communities had the opportunity to meet and network through the Chan Zuckerberg Rare As One project. While our respective communities are different in many ways, we quickly recognized that our communities also share many of the same struggles, same issues, same HOPE and the same RELENTLESS PASSION and DETERMINATION to improve lives and FIND CURES.
Disease Presentations: Complex Lymphatic Anomalies (CLA) and KIF1A Associated Neurological Disorder (KAND)
Complex Lymphatic Anomalies (CLA)
Vinay Ayyappan, a second-year medical student at University of Pennsylvania and co-founder of the Rare DIG at UPenn describes for us the basics of Complex Lymphatic Anomalies (CLAs). Complex Lymphatic Anomalies are one of the many rare disorders that fall under the umbrella term “Vascular Anomalies.” It includes a spectrum of diseases including Generalized Lymphatic Anomaly (GLA), Kaposiform Lymphangiomatosis (KLA), Gorham’s Disease (GSD) and Central Conducting Lymphatic Anomaly (CCLA). These are rare diseases characterized by abnormal growth and development of lymphatic vessels.
KIF1A Associated Neurological Disorder (KAND)
Michael Maalouf, a third-year medical student at McGill University and President of the Rare DIG at McGill describes for us the basics of KIF1A and KIF1A Associated Neurological Disorder (KAND). KAND encompasses a group of neurodegenerative conditions caused by one or more variations (mutations) in the KIF1A gene.
Parent Advocate Interview: CLA
“It is on medical schools to train students to be aware of this population’s [rare disease] existence.”
Dr. Yang Zhang, Moli’s Mom
Join Vinay Ayyappan, a second-year medical student at University of Pennsylvania and co-founder of the Rare DIG at UPenn, as he interviews Dr. Yang Zhang, Moli’s Mom. Moli is an 8-year-old child living with Kaposiform Lymphangiomatosis (KLA). Since infancy Moli has spent much of her life in and out of the hospital.
Dr. Zhang shares her family’s diagnostic odyssey and the challenges they have had during their daunting journey. She further discusses some of the gaps in clinical care and research that she has observed over the 8 years of navigating the healthcare system. Importantly, Dr. Zhang stresses the importance of involving patients and their families in every aspect of their care and within the rare disease community.
Parent Advocate Interview: KAND
“Listen to families and empower them. Give them a platform to express their concerns. We know our children the best.”
Charlotte Klinepeter, Anderson’s Mom
Michael Maalouf, a third-year medical student at McGill University and President of the Rare DIG at McGill interviews Charlotte Klinepeter, Anderson’s mom. Anderson is a 5-year-old child living with KIF1A Associated Neurological Disorder. Like many rare disease parents, this diagnostic journey started when Charlotte and family intuitively realized something wasn’t quite right in terms of Anderson’s development at a very young age.
Charlotte shares with us how their family’s life has been affected by the diagnosis and how they have learned to adapt, with some days being easier than others. Furthermore, she provides feedback to the medical community and highlights the necessary the role of parents in patient advocacy for children.
Interview with CLA Clinician
“The most important thing [for diagnosed families] is to find the right [support] group and to find the group that they feel comfortable with.”
Dr. Denise Adams, Professor of Pediatric Hematology and Oncology and Director of the Comprehensive Vascular Anomalies Program (CVAP) at Children’s Hospital of Philadelphia
We had the distinct pleasure of having Richard Elles, Director of Patient Advocacy and Industry Engagement from AllStripes, interview one of the foremost leading experts in the field of Vascular Anomalies – Dr. Denise Adams, Professor of pediatric hematology and oncology and Director of the Comprehensive Vascular Anomalies Program (CVAP) at Children’s Hospital of Philadelphia. Dr. Adams holds the Alan R. Cohen Endowed Chair in Pediatrics.
In this interview, get to know Dr. Adams and learn more about why she decided to choose vascular anomalies as her specialty.
Interview with KAND Researcher
“The patient voice is so powerful in this process. The best way we are going to find cures is to bring a diversity of people together to the table. Providing a perspective that may have been previously absent.”
Dr. Dominique Lessard, Chief Science Officer of KIF1A.ORG
In this video, Richard Elles, Director of Patient Advocacy and Industry Engagement from AllStripes, interviews Dr. Dominque Lessard, Chief Science Officer of KIF1A.ORG. Join Dr. Lessard as she explains her “Why?” and how she moved from academia researching KIF1A to joining the KIF1A.ORG and KAND community in the second week of a pandemic. Dr. Lessard also shares more on how #ScienceSaturday truly came to be in an effort to take scientific jargon and translate that into understandable information for the KAND community.
The “Post-It” Exercise
In this segment, we reached out to two seemingly different rare disease communities and asked members three questions to learn about their experiences living with a rare disease. What did we discover as we reviewed the answers? Just how strikingly similar the responses were amongst these two rare disease communities.
In this segment, we share with you some common themes that people living with rare diseases experience. Additionally, our medical students share with the audience how this opportunity of being immersed in the rare disease community, meeting and learning from patients and their families, and advocating for rare diseases through their Rare Disease Interest Groups has empowered them “to act, to advocate for improved awareness of rare diseases in medical school curriculum and to recognize, listen and support patients living with rare diseases to help them achieve what they want to achieve.”
Background and Common Themes
Reflections from Medical Students
Thank You
As a final message, we would like to extend a heartfelt thank you to all involved in this project, “A Collaboration of RARE + RARE.” Thank you to the Chan Zuckerberg Initiative Rare As One project for unifying and empowering rare disease communities. Thank you to medical students, rare disease patients and family members, clinicians, scientists, advocates, former KIF1A.ORG Science Communication Associate Aileen Lam, (and more!), all of whom have contributed to this piece and play a critical role in advancing our collective mission to improve lives and find cures. Thank you to Michael Prokopowicz for video editing. Lastly, thank you to YOU, the reader, for joining us in this special edition of #ScienceSaturday.