Individually, each rare disease impacts a small number of people compared to more common illnesses. Collectively, there are over 7,000 rare diseases causing a tremendous amount of pain, grief, and suffering for 300 million people worldwide.
Rare diseases can develop in a number of different ways — defects or predispositions, bacterial or viral infections, or even exposure to dangerous materials. Whatever the cause, one factor unites them all — their mystery. There is little known about rare diseases and, as a result, finding treatments and cures can be complicated.
The Hurdles of Rare Diseases
Challenges in the realm of rare disease exist for both patients and doctors. Since many rare illnesses affect a small number of people, it is difficult to find enough subjects who can participate in studies and trials that could lead to better treatment.
Additionally, rare diseases are often aggressive making many patients too weak to participate in trials once accurately diagnosed. Mesothelioma is an example of a rare, aggressive cancer that develops from exposure to asbestos. Symptoms can take 20 to 50 years to appear and often mimic signs of other more common infections or diseases. By the time an accurate diagnosis is made, the prognosis is poor and the patient is often very weak.
As a result, research efforts for diseases, like mesothelioma, are very limited compared to their more common counterparts. Lack of rare disease knowledge also stems from lack of funding as more research money is allocated to diseases that affect larger numbers of people. The lack of funding leads to delayed diagnosis, difficulties accessing care and treatment, and heavy financial burdens placed on patients.
Due to the lack of research, doctors are often unsure of the most efficient and effective way to proceed with the treatment of rare diseases. This information gap puts the responsibility on patients to take ownership of their health and become experts on their specific situation.
“Had I followed the first oncologist’s plan, I probably would have passed away soon after the diagnosis,” a patient of Highly Undifferentiated Endometrial Sarcoma said.
More than one professional opinion could be life-saving, but additional doctors visits mean an increased financial burden on the patient — intensifying what is already a stressful situation.
Get Involved with Rare Disease Fundraising
Each rare disease has advocacy groups that are working tirelessly to raise money in hopes for improved treatment or even a cure. In addition to fundraising, awareness is key. When more people know about rare diseases, increased resources become available. Fundraising and awareness events for rare diseases take place all the time, all over the place. It’s important to share, educate, advocate, and get involved with rare diseases!
Gesture Partners Tackling Rare Diseases
We wanted to feature some Gesture partners working to combat rare diseases across the country!
Cammy Can’s Cinderella Story
Cammy Can’s Cinderella Story (formerly RettSyndrome.org) focuses on accelerating Rett syndrome research and supporting families affected by this rare disease. In this two year partnership, Gesture has helped Cammy Can’s Cinderella Story raise over $111,000 to support their mission. Learn more about this organization here.
Carolinas HealthCare System
Another Gesture partner, the Carolinas HealthCare System and their Levine Children’s Hospital, work to help those with rare diseases. They recently highlighted two members of the Collins family battling chronic mucocutaneous candidiasis. The mother and daughter were featured in an article from the Carolinas HealthCare System discussing how LCH supports their care.
Huntsman Cancer Institute
The Huntsman Cancer Institute at the University of Utah has clinical trials for rare cancers! The diseases treated include rare sarcomas, blood cancers, brain tumors, and more. Gesture has partnered with this organization since 2015 to help them raise over $240,000.
Lurie Children’s Hospital
Last but not least comes Lurie Children’s Hospital located in Chicago, IL. The Center for Autonomic Medicine in Pediatrics (CAMP), located at Lurie Children’s Hospital, is the first of its kind. It is part of a program that studies diseases affecting children’s autonomic nervous systems. More information about the center and program can be found here.