Rare diseases. An estimated 25-30 million people in the US, and 300 million people globally are living with a rare disease. There are around 7,000 rare diseases currently identified, each affecting fewer than 200,000 people individually, but almost 1 in 10 Americans in total.
The Dr. Edwin G. & Dorothy Balbach Davis Global Center at UNMC will “Light Up for Rare!” on February 28, Rare Disease Day. Kate Watkin and Michelle Willes, students from the UNMC Genetic Counseling program, asked the Davis Global Center to use pink, blue, and green bulbs to mark the day, and they wrote the following article to answer some questions you may have.
What is Rare Disease Day?
Rare Disease Day 2022 is on February 28th. On a leap year, Rare Disease Day is observed on February 29th. Why? Because that’s the rarest of all the days! Some of the goals of Rare Disease Day are to:
- Raise awareness about rare diseases
- Advocate for equity in healthcare for individuals with a rare disease
- Highlight the stories of people living with a rare disease
- Initiate conversations around the rare disease community, research, and available therapeutic opportunities
Around the globe, individuals and organizations celebrate Rare Disease Day with a variety of events and activities, including the illumination of Clermont Auvergne Opéra house in France, street vendors and a skate-a-thon in Canada, a virtual symposium in Mexico, WALK FOR RARE in Portugal, Zebra 5k in the United States, and many more webinars, celebrations, and events!
What are some rare diseases?
It’s impossible to do justice to the vastly unique spectrum of rare diseases in just one blog post. To barely touch the surface of this collection of diseases, here’s a snapshot of one rare disease for each of the letters in the word RARE:
R: Refsum disease
Affected individuals: About 1 in 1,000,000 people
Type of condition: Metabolic disorder
Summary: Individuals with Refsum disease typically have no noticeable signs or symptoms at birth. By the first or second decade of life, symptoms begin to develop, including loss of night vision, loss of balance, loss of sense of smell, scaly skin, and deafness.
Treatment: Currently, there is no cure. Minimize or remove beef, lamb, seafood, and dairy intake for life. Avoid fasting or rapid weight loss, ibuprofen, and phytanic acid. Sometimes plasmapheresis–the removal, treatment, and reinfusion of a patient’s blood–is required.
A: Addison’s disease
Affected individuals: About 6 in 1,000,000 per year
Type of condition: Autoimmune disease
Summary: Addison’s disease occurs due to a malfunctioning of the adrenal glands, causing little to no cortisol and aldosterone (hormones) to be produced. This leads to an imbalance of electrolytes, water, and other fluids. Symptoms–including fatigue, loss of appetite, stomach pain, weakness, or dehydration–may occur in the late teens to early twenties. For some individuals with Addison’s disease, there is no visible sign of illness.
Treatment: Treatment involves managing the symptoms and sometimes includes hormone injections.
R: Rubinstein-Taybi syndrome
Affected individuals: Unknown. Possibly around 1 in 125,000 people.
Type of condition: Microdeletion syndrome
Summary: Individuals with Rubinstein-Taybi syndrome typically have distinctive facial features, moderate intellectual disability, developmental delay, skeletal differences, heart defects, and an increased susceptibility to autism spectrum disorders.
Treatment: Currently, there is no cure. Manage the symptoms of individuals with a team of specialists, often including pediatricians, cardiologists, orthopedists, audiologists, urologists, nephrologists, dental specialists, physical therapists, speech-language pathologists, dieticians, and others.
E: Epidermolysis bullosa
Affected individuals: Around 1 in 500,000
Type of condition: Germatodermatose (skin condition)
Summary: Fragile skin due to a faulty protein which prevents normal attachment of skin layers, leading to chronic blisters, sores, and wounds. Some types of epidermolysis bullosa are associated with scarring, growth restriction, webbing of fingers and toes, severe infection, dehydration, skin cancer, and/or oral blistering.
Treatment: Currently, there is no cure. Therapies involve minimizing friction and trauma to the skin, and treating current wounds. Clinical trials and investigational therapies, when available, contribute to additional research and hope for individuals and families with epidermolysis bullosa and related conditions.
What impact do rare diseases have on an individual’s life?
With over 7,000 different rare diseases and 25-30 million Americans affected by rare disease, the rare disease experience is incredibly diverse. However, there are some challenges and barriers that are shared by many in the rare disease community.
The road to a diagnosis can look different for each family and individual affected by rare disease. For some, their condition may be detected by newborn screening and their diagnosis may come when they are only days old. For many more, however, receiving a rare disease diagnosis can be a long and difficult journey, referred to as the diagnostic odyssey. According to one report, the diagnostic odyssey for rare disease patients lasts an average of five years, but can extend much longer (Engel et al., 2013). During this time, individuals may meet with many healthcare providers, undergo multiple tests and procedures, receive misdiagnoses, and develop new or worsening symptoms. This time can often be confusing, frustrating, and isolating for the individuals and families who experience it.
Many individuals in the rare disease community have complex medical needs. These needs can equate to many medical visits each year, as well as procedures, medications, and therapies that may or may not be covered by insurance. One study reports that individuals with rare disease pay around $30,000 on average each year in their direct medical costs (Lewin group, 2021). In addition to direct medical costs, rare disease patients may also face financial strain due to other costs, including necessary home or auto modifications and time missed from work due to their condition or caretaking needs.
Search for adequate treatment:
The National Organization for Rare Disorders (NORD) states that “more than 95% of rare disease patients lack an FDA approved treatment for their condition” (NORD, 2021). While there is ongoing research to create new and innovative treatments, there is still much that can be done in improving affordability and access to rare disease treatments.
What can be done?
If you have a rare disease, care about someone with a rare disease, or support the rare disease community, we invite you to get involved! Rare Disease Day is an opportunity for us to show support for the rare disease community and raise awareness about the struggles they face. Here is a list of ways for you to get involved on Rare Disease Day and throughout the year:
- Show your stripes. The zebra has become the official symbol of rare disease in the United States. You can show your support by wearing stripes on February 28th. Use the hashtag #ShowYourStripes and #RareDiseaseDay to share your pictures and connect with others online.
- Show your support online. While there may not be as many in-person events this year, you can still show your support for Rare Disease Day by joining the conversation online. On the websites Rarediseaseday.org and Rarediseases.org (the NORD website), you can read about personal rare disease experiences and share your own. Rarediseaseday.org also has banners, visuals, and videos to help you post about Rare Disease Day on your social media account.
- Join an organization near you. At Rarediseases.org, when you click on “events” you can search for rare disease initiatives that are happening across the nation as well as search for events near you. There is also a list of rare disease organizations and support groups so you can donate, volunteer, support, or get involved in a way that works best for you.
- Contact your local representative. There are a lot of different challenges that the rare disease community faces. One way we are working to overcome these challenges is by speaking out on government policies that affect individuals with rare disease and advocating for the rare community to have a stronger voice in government. At Rarediseases.org under “NORD Rare Disease Advocacy” you can learn more about legislation affecting the rare community, contact your local representative and more.
About the Authors
Kate Watkin is a genetic counseling intern in her final semester at the University of Nebraska Medical Center. As a genetic counselor working with individuals within the rare disease community every day, Kate believes it is important to advocate for the community in every way possible. The hope is that by raising awareness, we also raise funds, initiate conversations, inspire research projects, provide additional support to individuals and families, and increase equity within healthcare systems.
Michelle Willes is also genetic counseling intern in her final semester at the University of Nebraska Medical Center. As a passionate advocate for the rare disease community, Michelle has designed and led a research study aimed at understanding the experience of navigating insurance coverage and payment for individuals and families within the rare disease community. She is dedicated to advocating for and amplifying the voice of those with rare disease.
Engel PA, et al. (2013) Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. Journal of Rare Disorders 2013: Vol. 1, Issue 2.
Lewin Group. (2021, February 25). The national economic burden of rare disease study. Retrieved from https://everylifefoundation.org/wp-content/uploads/2021/02/The_National_Economic_Burden_of_Rare_Disease_Study_Summary_Report_February_2021.pdf
NORD (National Organization for Rare Disorders). (2021, December 17). Home. NORD (National Organization for Rare Disorders). Retrieved February 1, 2022, from https://rarediseases.org/
Rare Disease Day. (2021). 28 February is Rare Disease Day. Rare Disease Day 2022. Retrieved February 1, 2022, from https://www.rarediseaseday.org/