Individually Rare, Collectively Common

By Elyssa Gray, Erin Loughney, & Katie Tlusty

Rare disease day
Over 300 million people worldwide are affected by a rare disease. In the United States alone, there are over 7,000 rare diseases affecting around 30 million people. Individually, these diseases are rare, but rare diseases are collectively common. Rare diseases span the medical spectrum from mild to severe. Examples of rare conditions include some forms of cancer, chromosomal disorders, metabolic conditions, skeletal disorders, and many others.

Rare disease day is on February 28 this year. This is a day to raise awareness for rare diseases across the world.

Awareness of rare diseases is important for:
(1) The general public: They may have a better understanding and help support individuals with a diagnosis of a rare disease. They may also feel inclined to become an advocate for rare diseases.
(2) Healthcare professionals and researchers: They can better understand the impact of rare diseases on their patients’ lives and can advance the medical aspects of the diagnosis.
(3) Public health officials and policy makers: They can help drive change in addressing the needs of the 30 million Americans living with a rare disease.
(4) Individuals with a rare disease: Individuals and their families are able to connect with each other across rare diseases and can also make connections with individuals who do not have a diagnosis of a rare disease.
(5) EVERYONE: Everyone should become aware of and learn about rare diseases. Rare disease day is a day of coming together.
Many of these rare conditions are genetic in nature. Genetic counselors and the students in UNMC’s genetic counseling program often work with families affected by some of these diseases. Students in the program are educated about the medical side of the diagnosis, but also how it may affect that individual’s life and their family psychosocially.

“My genetic counseling training has helped me better support families with a rare disease diagnosis. We are trained on both the psychosocial and medical perspectives of rare diseases. We have been able to talk with families about their day-to-day life, and we have learned about the underlying genetic cause of the medical diagnosis.” – Katie

“As genetic counseling students, we have the opportunity to learn from and support the communities in which we serve. Our training allows us to better understand the medical and psychosocial journeys of individuals diagnosed with rare diseases. My clinic experience has afforded me a first-hand look at the impact a diagnosis can have on a patient and their family.” – Erin

“Throughout my time in the genetic counseling program, I have had the pleasure to meet many people affected by rare disease. I have seen the impact a diagnosis can have on children and their families. I hope to be able to support my patients throughout their diagnostic odyssey and the rest of their lives.” – Elyssa

What YOU can do
Raising awareness for Rare Disease Day allows all of us to become better advocates and support individuals with rare diseases. There are several events being put on both nationally and locally to help elevate the cause and shine a light on rare disease patients and caregivers:

1. Rare Disease Day Event: Join the Rare Disease Network online for a week of free events revolving around rare diseases and the rare disease community. Each evening of the week will feature themed sessions on topics related to advocacy, education, and community. See a list of scheduled events.
2. Rare Disease Day at NIH: The National Institute of Health aims to raise awareness about rare diseases, the people they affect, and NIH research collaborations underway to address scientific challenges and to advance new treatments. This event will be held virtually on Monday, March 1st, 2021 from 10:30am to 5:30pm EST. This year’s event will feature interactive panel discussions, rare stories through TED-style talks, and more.
3. Promoting Life Skills Through the Power of Cooking: Let’s bake chocolate chip cookies together! The CSNK2A1 Foundation is hosting this event on Sunday, February 28th, at 10am Central. Terri Jordan, founder of The Color-Coded Chef will guide us through her recipe as together we will make her amazing adapted Chocolate Chip Cookie recipe.
4. 6th Annual Rare Disease Day Virtual Race: Help raise awareness and benefit the National Organization for Rare Disorders (NORD). You can complete a 5K, 10K, or half marathon anytime in February. You don’t have to do the distance at once.
5. Wear That You Care: The Blue Denim Genes Ribbon is a symbol of hope for more than 7,000 rare disease communities around the world. Wear your denim ribbon to show your support.
6. Interact on Social Media: Show how you’re celebrating and honoring Rare Disease Day on social media. Make sure to use the hashtags #RareDiseaseDay and #CareAboutRARE.
7. Rare Disease Day Illuminations: See landmarks throughout the United States that will be illuminated to mark 2021 Rare Disease Day on February 28th!

Check out the Rare Disease Day website for additional events around the world!