Rare Disorders Aren’t as Rare as You May Think

February 28th is Rare Disease Day. According to the National Organization for Rare Disorders, 1 in 10 Americans, and 1 in 20 people worldwide, may live with a rare disorder at some point in their lives. In the US, rare disorders are conditions that affect fewer than 200,000 people. More than 80% of rare conditions have genetic origins, others are the result of infections, allergies or environmental causes, or degenerative. About half of rare disorders affect children. Often there are no existing effective cures for these conditions.

Individuals and families who are diagnosed with a rare disorder often find that there is little or no research on successful treatments or therapies for their condition. Rare disorders may not get the same levels of funding and research attention as more common conditions like heart disease or arthritis. That lack of scientific knowledge and quality information can result in a delay of diagnosis or misdiagnosis. People with these conditions and their healthcare providers may have to focus on treating and managing symptoms rather than finding a cure.

This is even true within the history of NIDILRR-funded research. We searched records for more than 25 years of funding and found only a small handful of projects that targeted rare disorders such as Guillain Barre Syndrome or Fragile X Syndrome. However, much of the research and technology development funded by NIDILRR still supports individuals with rare disorders and their families by focusing on the technology, tools, and interventions to help them learn, work, and live as independently as possible.

Research to support people with disorders which result in loss of mobility: NIDILRR-funded projects investigate wheelchair standards and wheelchair transportation safety, universal design and removal of physical barriers to public spaces, robotics for walking and upper limb function, and more.

Research to support people with disorders which result in intellectual and developmental disabilities (IDD): NIDILRR-funded projects support people with IDD to live healthy, active lives, go to school, and participate in the workforce and in the community; and to support families who provide caregiving.

Research to support people with disorders which result in low vision, deafness or hearing loss, or loss of communication: NIDILRR-funded projects in these areas conduct research in employment and education, develop technology from apps to tactile displays, and work on exciting augmentative and alternative communication options like brain computer interfaces.

In addition, NIDILRR funds a myriad of projects that focus on transitioning youth with disabilities through school to college and into the workplace. Other projects focus on supporting employers and job seekers to build inclusive workplaces. Then there are projects which focus on independent living and community participation, from understanding health care policy and how to advocate for and manage your health to resources for parents with disabilities. Explore the current grantee community by NIDILRR’s outcome domains of Health and Function, Employment, Technology for Access, Community Participation, and Capacity Building to learn more: https://www.naric.com/?q=en/node/117

If you are a person with lived experience with a rare disorder, either yourself or someone you love, there are resources out there to help. Talk with an information specialist at NARIC or get in touch with NORD. The theme for 2018’s Rare Disease Day is #ShowYourRare, highlighting just how big and diverse the rare disease community is.  Show Your Rare and connect with your community.

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