RARE AND COMPLEX MEDICAL CONDITIONS
"Rare" Diseases aren't as rare as we think!
According to the NIH, over 6,500 different rare diseases exist in the United States, in addition to undiagnosed conditions, and less rare disorders that are still difficult to diagnose and treat (1).
Combined, more than 30 Million adults and children in the United States (about 10% of the population) are affected by a rare disease, a complex medical disorder, or an undiagnosed condition (1).
Many rare and complex disorders are represented here in New England, and in combination with our multiple medical, research, and community resources, New England's Rare and Complex Disorders community is working hard to advance care for patients and families across our region, and throughout the country (1).
Rare and Complex Disorders are difficult to diagnose.
According to a 2015 survey in the US and UK, patients report needing to see an average of 8 different physicians before finding the doctor who diagnoses them, and having to wait an average of 6 to 8 years, before being correctly diagnosed (3).
Many of these patients report receiving several incorrect diagnoses, with incorrect treatment plans, before being identified as a rare disease patient (3).
Medical care for Rare Disorders is challenging.
Researchers receive little funding to help identify causes and potential treatments of rare disorders, and for many rare diseases, not even one FDA-approved treatment is available in the US (1).
As a result of the overall lack of knowledge regarding many rare diseases, finding qualified specialists is difficult. About half of rare disease patients report hearing conflicting information about their disease and possible treatment options, and many struggle to find physicians and clinics with the knowledge and experience needed to care for their rare disease. In fact, about half of patients surveyed had to provide their physicians with disease-related information on their own (3).
Having a Rare or Complex Disorder can lower quality of life.
Over half of US rare disease patients report a reduced quality of life along with their diagnosis, related to large medical expenses, difficulty in finding treatments and medical care, lack of education and awareness about their disease, feelings of isolation and worry, loss of jobs and careers, long-term disability and planning for the future, difficulty with community and school access and accommodations, finding and utilizing resources, and more (2, 3).
RNE understands Rare and Complex Disorder patients and families face many challenges.
We strive to reduce the burden of rare and complex disease through providing personal support, helping patients and families learn about and utilize community resources, educating patients and medical providers on rare and complex disorders, and promoting community awareness of and accommodations for the rare disease community.
1)“2015 State Policy Progress Report: A Roadmap for State Improvement” National Organization for Rare Disorders. 2015 http://rarediseases.org/advocate/take-action-locally/stateprogressreport/
2)"Rare Disease Day 2016" National Institutes of Health National Center for Advancing Translational Services (https://ncats.nih.gov/rdd)
3)"Rare Disease Impact Report: Insights from patients and the medical community” Shire and External Advisory Board. 2013 (https://globalgenes.org/rare-disease-impact-report/)