Rare Disease Day 2022

Each year, the last day of February is dedicated to raising awareness about rare diseases, defined as a condition that affects fewer than 200,000 people in the U.S. Despite the fact that many rare diseases go undiagnosed and no cure exists for a majority of rare diseases, progress is being made to ensure that children and families are receiving the individualized support and care needed to reach their optimal health. Keep scrolling to learn how you can participate in Rare Disease Day with NICHQ!

Improve Care for Patients

1 in 20 people will live with a rare disease at some point in their life. Read the articles below for strategies that address the needs of those living with rare diseases.

Partner with Families and Caregivers: There are a variety of miles to cover and turns to take on the journey of effective engagement and inclusion of a Patient/Family Partner (PFP) onto a work group, advisory council, Quality Improvement (QI) team, or other clinical or health systems initiatives. Pre-planning is likely needed in advance of inviting PFPs to join in on the journey. This roadmap provides a framework for effective engagement and inclusion of a Patient/Family Partner (PFP) onto a work group, advisory council, Quality Improvement (QI) team, or other clinical or health systems initiatives.

Download the Roadmap

Stay Informed on Important Research: ECHO cohorts have produced over 1000 papers published or in press. 71 were ECHO-wide, meaning one or more ECHO cohort was involved, and DINE cohort data contributes to many of these publications. The de-identified data from the ECHO Program are now available as a resource for the entire scientific community. This first public-use version of ECHO-wide Cohort data covers information that our 69 cohort studies collected from 41,299 participants.

View ECHO Publications

Improving Care for People Living with SCD: A model protocol with best practices for caring for people living with sickle cell disease (SCD) and a helpful compendium of tools and resources for providers, patients, and caregivers were developed to accompany the 2017-2021 SCDRCTDP Report to Congress. Funding for this report was provided by the Health Resources and Services Administration.

Download Compendium of Tools and Resources

Reducing Missed Clinic Appointments: People with rare diseases, such as sickle cell disease, experience unique challenges, such as maintaining scheduled appointments. Watch a series of helpful webinars about reducing missed appointments, and download our patient/caregiver infographic that suggests some steps to find solutions and help make getting to appointments easier. This project was funded through the Patient-Centered Outcomes Research Institute (PCORI).

Download the Patient/Caregiver Infographic

NICHQ Initiatives Focused on Rare Diseases

Content Development for Newborn Screening Clearinghouse: To increase awareness, knowledge, and understanding of newborn screening and genetic conditions, NICHQ partnered with Genetic Alliance to develop, revise and deliver general, state-specific and condition-specific newborn screening website content.

Environmental Influences on Child Health Outcomes: Developmental Impact of NICU Exposures (ECHO DINE): ECHO DINE is a research study on the long-term impact of environmental exposures in neonatal intensive care units (NICUs). NICHQ serves as a coordinating center for 8 DINE sites participating in ECHO. In this role, NICHQ provides technical assistance, hosts monthly webinars for study sites and quarterly training for study coordinators, and supports and maintains communication and coordination among DINE sites and between DINE sites-ECHO.

Improving Care for Children with Special Healthcare Needs: NICHQ is leading a learning and action network (LAN) for seven SNAQ teams to support a high-quality system of care in Florida that serves all children and youth with special healthcare needs, regardless of insurance status and location.

Improving Sickle Cell Disease Care - Hemoglobinopathies Coordinating Center: NICHQ, with partner organization Abt Associates, is supporting a Hemoglobinopathies National Coordinating Center (NCC) to help SCD treatment demonstration program grantees — including community and federally qualified health centers — address structural and systemic barriers in their regions and implement evidence-based SCD care.

View NICHQ's Current Initiatives

I support Rare Disease Day 28, February 2023

Spread the Word about Rare Disease Day

Download this online collection of social media posts, posters, infopacks, tool kits, fact sheets, infographics, and more, sharing key statistics and facts that illustrate the impact rare diseases have on more than 25 million American families.

Download Promotional Resources

Interested in learning more about the Rare Disease Day movement?

Visit the official Rare Disease Day campaign page for more resources and ideas that support those living with rare diseases.

Related Articles about Rare Diseases

A Physician’s Reflections on Racism and Treating Sickle Cell Disease

For NICHQ’s current and future work, I am motivated by wanting to be a better version of myself in service of others. Wondering whether my own implicit biases impacted my care of patients and families, I realize that I cannot redo past ER experiences. If I could go back, I would slow down to acknowledge and try to set my biases aside and approach patients from a personally more informed perspective. But now, I can use my past, present, and future experiences to ensure NICHQ is amplifying important lessons from this multi-year effort reflecting the compassion, care, and commitment of hundreds of dedicated professionals in pursuit of equitable, accessible, and quality healthcare for people living with sickle cell disease.

How One Mom is Raising the Profile of Sickle Cell Disease

Tammy Smith's daughter, Precious, often got sick as a baby and she cried—a lot. "One time she was holding her arm and we thought it was broken, but it wasn’t. Another time she couldn't even sit up. She would just cry and cry. The doctors kept giving us medicine, but it didn't help," recalls Tammy.

An Innovation in Provider Training Increases Access to Care for Sickle Cell Disease Patients

An internationally recognized telementoring initiative is transforming provider training to enhance care delivery and improve access to care and quality of life for SCD patients across the country.

Four Solutions for Sickle Cell Disease Support

Precious Lee has spent her lifetime navigating the health system, first as a patient with SCD and then, after her son Melvin was born with SCD, as a mother. She has lived with the impact of SCD, witnessed significant advancements in care, and intimately knows the barriers families still face. Here, she describes those challenges and elaborates on opportunities for continued improvement.

Sickle Cell Pain Protocol Reduces Wait Times for Meds and Eases Patient Frustration

When kids with sickle cell disease come to an emergency room (ER) asking for painkillers, the care can sometimes be less than ideal. In a busy ER, there can be long wait times, and, especially with an illness like sickle cell disease that has no visual signs of pain, doctors sometimes question whether a patient is really in a medical crisis or just drug seeking.

For Those Born With Rare Diseases, Early Diagnosis Can Save Lives

Hypophosphatasia (HPP) is a rare and potentially life-threatening disorder that can begin prenatally and adversely affects teeth and bone development. While the severity of HPP varies, with some cases only affecting dental development, children born with more severe forms of HPP have soft or weakened bones that can cause skelatol deformities, fractures, pain and, in the most severe cases, death. It is estimated that severe forms of HPP occur in one out of every 100,000 live births.

Rare Diseases Deserve Our Attention

Between 25 and 30 million Americans, many of them children, are living with a rare disease. The complex challenges facing these children and families deserve innovative responses. Here, NICHQ President and CEO Scott D. Berns, MD, MPH, shares his experiences, elaborates on successful strategies, and describes his goals for the future.

Rare Diseases Deserve Our Attention

Between 25 and 30 million Americans, many of them children, are living with a rare disease. The complex challenges facing these children and families deserve innovative responses. Here, NICHQ President and CEO Scott D. Berns, MD, MPH, shares his experiences, elaborates on successful strategies, and describes his goals for the future.