Clinical Center News
Spring 2020

Patients, parents and advocates join forces at NIH Rare Disease Day

Patient speaks at NIH Rare Disease Day
Noah Victoria, who has two rare diseases, shares her story at Rare Disease Day. Credit: Debbie Accame
 

With more than 700 in-person attendees and over 1,000 livestream viewers, NIH held its 10th annual Rare Disease Day event in the Natcher Building on Feb. 28.

Similar gatherings were held world-wide, all to raise awareness for the nearly 7,000 rare diseases. According to the National Center for Advancing Translation Sciences (NCATS), in the United States a rare disease is defined as a condition that affects fewer than 200,000 people. In spite of the name, rare diseases are hardly rare. The total number of Americans living with a rare disease is estimated at between 25-30 million, and about half of them are children.

Organized by NCATS, Rare Disease Day brings together diverse government and academic research interests, advocacy organizations, along with patients and families - all to share highlights in rare disease research, recognize those who are making exceptional contributions and propose an agenda to keep research moving forward. View online photos from the day.

In his welcome remarks by video, NIH Director Dr. Francis Collins shared a hopeful message, saying that over the past 10 years, the landscape has been changing. "Maybe not as fast as many would like, but rare disease has emerged as some of the coolest science, because we are finding cures at a rapid pace."

He described the approach as "scalable"– finding solutions that can be extended to multiple conditions. For example, using CRISPR CAS 9, to edit "misspellings" in genes and sequencing the genome. Researchers are also working with the Food and Drug Administration to move the drug approval process more quickly.

Collins added, "I give a lot of credit to families who have worked with researchers in identifying conditions and taking risks."

Panelists and speakers exchanged the latest rare diseases information with stakeholders to advance research and therapeutic efforts. They covered such topics as patient data collection, NIH-supported rare diseases research and the development of diagnostics and treatments. The event also put a face on rare diseases by sharing stories of patients, their families and their communities.

Many patient advocacy groups, allied nonprofits and NIH Clinical Center Departments participated with exhibits and posters. These organizations have worked hard to raise public awareness and driven scientific research. There is a proud tradition of energized rare disease patients driving science. From lobbying lawmakers to inspiring scientists, this strong community is working to make their voices heard.

"Rare Disease Day is a chance to make connections that span across such a wide variety of types of conditions to find commonality and solidarity," said Rebekah Horsting, Community and Content Manager of Patient Worthy, an organization that disseminates information and connects patients. "It’s a wonderful time to network, in a way that people from all different types of communities can collaborate and benefit one another."

Noah Victoria, a 22 year-old with two rare diseases, shared her odyssey with attendees. From the age of two, she has been part of a study at the Clinical Center. As a result of the treatment she has received, she was able to avoid more serious symptoms. She shared her coping strategies, which included the support of family and friends and her passion for reading and writing. Her goal is to become a published writer.

Victoria says, "I hope that by putting our stories and our voices together, we can raise and inspire more people to become passionate about rare disease research and change the world for people with rare diseases."

Recent advancements in science and technology, along with the commitment of researchers, patients and their families, provide inspiration and hope for scalable approaches, by identifying commonalities and applying them to this community.

- Debbie Accame

Stories
All patients, visitors and staff are screened for Covid-19 when they enter the hospital
People working on sewing blankets
Janet Logan
Group of people celebrating Bill Cervenka's 400th platelets donation
Dr. Marta Čeko
The NIH Clinical Center Nutrition Department's new biodegradable cups and plates
NIH Clinical Center staff member
Dr Kadri receives 2018 Science Award
weight, scale and an exercise ball
Dr. Huy Michael
Noah Victoria speaking
Jim Gilman, CC CEO
Dr. Tomislav Mihaljevic, Mihaljevic is Laura Lee, and Dr. James K. Gilman
Dr. Douglas Rosing
Dr. Francis Collins, Dr. Emily Chew and Dr. Jim Gilman
NIH Clinical Center Atrium
Federal Employee Viewpoint Survey - your opinion counts!
David Henderson
A gathering of NIH staff and blood and platelet donors
Dr. James Gilman and Stanley Hess
Lunch and Learn
2019-2020 Introduction to the Principles and Practice of Clinical Research Course now open
mother with a child playing with a toy
Ingrid Harris, Mitzi Kosciulek and Richard Appling pose with two Marines during NIH's 8th Annual Veterans Day Celebration Nov. 12
Dr. Curtis Longlotz speaks at a podium
Tricia Coffey, chief of the Health Information Management department participated as torchbearers
Program graduates pose for a group photo
Rabbi David Shneyer (right) shared songs of healing from the Jewish tradition
NIH Social Media team livestreams the winners on Twitter
Pharmacy symbol icon
NIH Clinical Center releases Strategic Plan
Mary Sparks receiving a flu shot
wristband with ALLERGY on it
Awardees Elise Ferré, Maureen McDonnell, Ruth Parker and Dr. Douglas Rosing
Language Interpreters Program staff
Dr. Harvey Klein
Julianna Nickel playing the flute
CC Research Nursing Department trains University of Guam Nursing students and Faculty
Dr. Francis Collins, Thu Cao and Dr. Jim Gilman
Dr. Jo Shapiro
Jim Howson
Screen capture of Meet Our Doctors, a new feature of the NIH Clinical Center website
Dr. James Gilman, NIH Clinical Center CEO, addresses staff clinicians
Michael Murphy at a podium
Nurses working on a pedigree diagram within a patient's medical record
nurse kneeling beside a pediatric patient
people gathered around computers
Patient standing with care providers
The metabolic kitchen staff creating precisely measured ultra-processed and unprocessed meals for study participants
Attendees of the Open Notes session gathered together