Rare Disease Day – When and What Is It?
Rare Disease Day takes place every year on the 28th of February to promote awareness for 7,000+ rare conditions that impact over 300 million people globally. By celebrating this day, the community hopes to advocate for rare disease research as well as gather support from the community for those impacted.
What is the History of Rare Disease Day?
The National Organization for Rare Diseases (NORD) is the official US partner for rare diseases that works with international partners to advocate for health equality for those with rare diseases. Rare Disease Day is typically celebrated on the last day of February to bring awareness to rare diseases. This annual celebration promotes awareness and research for rare diseases as well as gathers a support community for those impacted.
What are the Rarest Diseases?
A condition is considered ‘rare’ by NORD when less than 200,000 Americans are diagnosed with a particular disease. Rare diseases are also known as ‘orphans’ because drug companies were not interested in adopting them to develop treatments. Diagnoses for rare conditions are scarce as doctors typically do not have enough information on the disease to undoubtedly diagnose patients. There are over 7,000 rare diseases that affect patients globally. These thousands of conditions span from autoimmune diseases to viral infections.
- Mesothelioma, The Sudden Killer: Mesothelioma is one of the rare or ‘orphan’ diseases affecting one in ten Americans. Mesothelioma is an asbestos-caused cancer that develops in the lining of the lungs, stomach, heart, and testicles. As Mesothelioma is an ‘orphan’ disease, there is little research, making it extremely isolating. Researchers and medical centers are pushing forward, though, with promising clinical trials proving effective.
- Hutchinson-Gilford Progeria Syndrome: Hutchinson-Gilford Progeria Syndrome is characterized by the accelerated appearance of premature aging starting in childhood. This disease affects one in 8 million children, with fewer than 100 cases documented in medical history. This is caused by a letter misspelling in a gene on chromosome 1 that codes for lamin A. The abnormal lamin A protein produced in HGPS is called progerin. The signs and symptoms of this condition include alopecia-related hair loss, short and petite stature, and small features.
- Fibrodysplasia Ossificans Progressiva: Fibrodysplasia ossificans progressiva (FOP) is a disorder where bone abnormally develops where it is not normally present. The soft tissues in the body transition into bone, locking joints into place and making it difficult to move. There are only 900 recorded cases in all of history.
- Paraneoplastic Neurologic Syndromes: Paraneoplastic Neurologic Syndromes (PNS) refers to a group of conditions that affect the nervous system in patients with cancer. These conditions can vary in signs and symptoms but typically are displayed through neurological effects. Although rare, paraneoplastic neurologic syndromes affect 10% of immunological cancer patients.
How to Support People with Rare Diseases
A primary focus of Rare Disease Day is providing support to patients. Many rare disease patients spend a lot of time alone which is the perfect time to get involved. Creating a community for those to turn to when they are struggling can help overcome the loneliness of a disease. Supporting those affected by rare diseases by seeking legal aid can help. Oftentimes there are settlements provided to patients to support payments associated with treatment.
The annual event also focuses on advancing research for rare diseases. These conditions are considered ‘orphans’ as companies were uninterested in developing treatments due to their rarity and deemed research unnecessary. According to government statistics, between 85-90 percent of orphan conditions are considered serious or life-threatening, but only around 200 of them have effective treatments currently.
By raising public awareness, donating, and advocating for research, sustained support for patients is possible.
How To Get Involved in Rare Disease Day
There are several ways to get involved with Rare Disease Day throughout the rest of the year.
- Light up a landmark for Rare Disease Day
- Send a gift or donation to NORD
- Host or attend a fundraiser event
- Raise awareness on social media
- Educate yourself by doing research on rare diseases
Ultimately, raising awareness and advocating for rare diseases is the best way to get involved in the community. The impact of working together in the rare disease community only strengthens the impact made.