Resources

The South Carolina Rare Disease Advisory Council (RDAC) is committed to providing resources and support networks relating to diagnosis, treatment access, services, and education for members of the rare disease community. If you have a rare disease resource suggestion, please contact us at scrdac@musc.edu.

General Resources

These resources offer helpful information to support a wide scope of audiences, including patients, caregivers, advocates, researchers, and health care providers:

Global Genes is a non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally.

National Organization for Rare Diseases promotes research, advocacy, awareness, and public policies that benefit rare disease communities nationwide.

Rare Advocacy Movement represents a rare disease patient and carer ecosystem that relies upon specialized global collaborations to address the needs of the patient and carer community from the community perspective.

Rare Diseases Clinical Research Network is designed to advance medical research on rare disease by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.

Rare Disease Day is held annually on the last day of February to raise awareness and promote research and advocacy for the rare disease community.

Rare Disease Diversity Coalition unifies rare disease experts, health and diversity advocates, and industry leaders to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on historically marginalized populations.

In addition to these organizations, SCRDAC has identified additional online resources that they have organized for patients, advocates, providers, and researchers, and categorized according to topic areas relevant to those specific groups.

We also encourage you to visit our Research page if you are seeking clinical research studies to learn about and participate in as a volunteer.

Advocate/Patient Resources

These resources are intended to benefit patients, advocates, and caregivers at any given stage of their rare disease journey: from seeking an official diagnosis and learning about rare disease symptoms and treatments, to managing the costs of healthcare, to promoting advocacy and awareness.

Achieving a Diagnosis

The following resources provide links to clinical programs with experts in rare disease diagnosis who specialize in undiagnosed patients: Person typing on a computer.

Undiagnosed Diseases Network is an NIH supported research study that seeks to provide answers for patients and families affected by these mysterious conditions.

NORD Undiagnosed Disease Registry is an online registry for patients with undiagnosed rare diseases, supported by the NORD platform.

Finding Information About Your Disease

In addition to the umbrella organizations listed in General Resources, these online resources can help you navigate information about your rare disease:

Genome Connect is an online registry that helps patients share their genetic and health information.

IAMRARE Registry is an online registry on NORD’s platform that helps patients share data and researchers begin studies that will inform medical research and translational science for rare diseases.

NCATS Genetic and Rare Diseases Information Center offers free access for the rare disease community to obtain information, get diagnosis, and find resources.

NORD Rare Disease Database helps newly diagnosed patients of rare diseases locate information on symptoms, causes, treatments, clinical trials, and patient advocacy organizations.

Managing Financial Costs

Stock art of a close up a document that reads "Explaination of benefits"

Managing the cost of rare disease diagnosis and treatment can be expensive and challenging for patients and their families. The following resources are available for those who qualify for financial assistance:

Federal Resources

COBRA is government legislation that gives workers and families who lose their benefits through job loss the opportunity to elect continuing group health benefits provided by their employer for a limited time period.

Medicare is a government insurance program designated for people 65 years of age or older, young people with disabilities, and people with end-stage renal disease.

Medicaid is a government insurance program for families and individuals with low income.

Affordable Care Act offers access to the government insurance marketplace for health insurance policies which are provided by private insurance companies for individuals, families, and small businesses.

USA.Gov provides links to federal resources that offer financial assistance for medical costs and prescription drugs.

State Resources

Healthy Connections is South Carolina’s Medicaid program that provides health coverage for eligible SC residents.

SC Department of Social Services offers assistance programs to families who are eligible to receive financial assistance.

SC Health Insurance Assistance Program provides help and resources for aging SC residents with disabilities.

Non-Profit Resources

Patient Advocate Foundation provides patient services and promotes health care equity by removing obstacles to quality health care access.

RARECARE Patient Assistance Programs provides information on caregiver aid, financial assistance, and educational support for patients and caregivers of patients with rare diseases.

Supporting Rare Diseases

Sharing your diagnosis with friends, family, educators, and employees can help them better understand how to accommodate your condition. Additionally, there are advocacy programs and organizations that provide support, promote equity, and spread awareness for patients with rare diseases and their families:

A woman pointing to an apple on the screen of a presentation she is giving.

Education

Individuals with Disabilities Education Act provides information and resources on children with disabilities.

Advocacy

EveryLife Foundation advocates for science-driven legislation and policy to advance the treatment and diagnosis of patients with rare diseases.

Rare Disease Foundation focuses on pursuing potential cures and providing funding for research projects, as well as resources for patients and caregivers of patients with rare diseases.

RDCRN Patient Advocacy Groups are organizations that promote the needs of patients of rare diseases for the advancement of research and improvement of outcomes.

Rare Disease RareLaunch offers courses and resources for leaders to form a rare disease nonprofit organization.

Provider/Researcher Resources

These resources are intended to support clinicians and researchers who are seeking support at various stages of their clinical practices and research studies: from identifying current diagnosis and treatment methodologies for rare disease patients, to collaborating on research and registry programs, to learning how to improve patient treatment and care.

Seeking Research Support

Person in scrubs at a desk using a computer and tablet Medical professionals are trained that when they hear hoofbeats, to think of a horse, not a zebra, or in other words, to think of the most common answer. However, SC RDAC and the rare disease community encourage health care providers to consider the possibility that the hoofbeats belong to a zebra, as not all diagnosis are common. The following resources are meant to help provide providers with current information on rare disease diagnosis, treatment, and awareness for their patients:

NCATS Genetic and Rare Diseases Information Center is an NIH supported institute that offers resources and toolkits for research, funding, and training for researchers.

NORD Clinicians and Researchers is a network powered by NORD to provide support in research and health care for clinicians and researchers of rare disease.

Seeking Collaborative Research

Novel diagnostics and therapeutics for rare diseases can only be developed through the conduction of clinical research and participation of research volunteers. These clinical trials are monitored by the Two doctors looking at a computer screen. NIH and U.S. FDA. Whether you are seeking to stay current in medical conditions and research studies, collaborate on registry programs, or learn how to improve patient treatment and care, then there are several resources available:

Palmetto Profiles is a research networking tool provided for researchers, mentors and mentees, and research community and industry partners within the Health Sciences South Carolina consortium.

Rare Diseases Registry Program helps researchers learn how to build and manage their registries in order to connect with patients of the rare disease community.

RDCRN Research Group is an NIH-funded research network that encourages collaborative research to better understand and improve diagnosis and treatment of rare diseases.