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Resources & FAQs

According to the National Institutes of Health (NIH), a disease is considered rare if it has a prevalence of fewer than 200,000 affected individuals in the United States. There are roughly 7,000 rare diseases currently identified. View the full list from NIH.

Get the facts. Download NORD’s Rare Disease Fact Sheet.

Orphan drugs are products developed to diagnose, prevent or treat rare diseases and conditions. In the decade before 1983, only 10 products had been developed by the pharmaceutical industry for people with rare diseases.  At that time, the pharmaceutical industry wasn’t interested in researching and developing treatments for conditions that were only intended for small populations due to high costs and limited commercial value.

As a result, patients and organizations led the movement to enact the Orphan Drug Act of 1983, which provided new incentives for companies to develop treatments for diseases affecting fewer than 200,000 Americans. These efforts led to the founding of NORD and its advocacy platform. Today, there are nearly 500 FDA approved orphan drugs.

For more information on orphan drugs or orphan drug law, please visit: FDA’s Office of Orphan Product Development

If you or a family member was recently diagnosed with a rare disease, the most important thing to know is that you are not alone. There are 30 million Americans living with rare diseases and millions more around the world. NORD and our partners are here to support you. View current NORD member organizations or search for an organization in our organizational database.

If you do not have a diagnosis, the following organizations may be able to help you:

The Running for Rare Diseases Team will support the NORD/NIH Undiagnosed Diseases Patient Assistance Program (UDP). This program, established in 2008, provides financial assistance to families who have exhausted all other alternatives for seeking a diagnosis.  NORD will help cover the basic diagnostic testing needed for patients and families to apply into the NIH UDP. Learn more.

Many patient organizations provide lists of medical experts. To find out if your disease has an organization, you can search NORD’s organizational database. The Genetic and Rare Diseases Information Center (GARD) at NIH offers this information page on how to find a physician and individuals can also contact GARD directly for further assistance finding a medical professional.

We recommend searching for disease-specific patient organizations on NORD’s organizational database. NORD hosts patient meetings for specific diseases and you can also connect with individuals on our Facebook page, Twitter, or by participating in Rare Disease Day or local advocacy activities.

You can search NORD’s Rare Disease Database, which has reports on more than 1,200 rare diseases in non-technical language. You can also search NORD’s Organizational Database to find an organization for patients with your disease. The Genetic and Rare Diseases Center (GARD) at NIH also provides information about specific diseases.

NORD’s editorial team works with rare disease medical experts provide reports that are accurate and informative. Currently, we have more than 1,200 reports.  Check the NIH website for the most complete listing of rare diseases.

NORD’s patient assistance programs help patients obtain life-saving or life-sustaining medications they could not otherwise afford. Additionally, NORD has compiled information about other sources of medication and monetary support.

If your insurance company has denied your claim for treatment, you can customize the  following sample letter for your specific condition, treatment or procedure, and send it  your state insurance commissioner.  We recommend that you send this letter by certified mail. Other helpful resources include NORD’s state-insurance map, which provides state-specific resources related to health insurance, as well as resources offered by the Patient Advocate Foundation and Henry J. Kaiser Family Foundation’s StateHealthFacts.org.

Clinical trials are research studies that test how well new medical approaches work in people. View NIH’s definition of a clinical trial and learn more about current clinical trials on clinicaltrials.gov.

A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Registries can help lay the foundation for future research. Learn more about registries and read about NORD’s natural history registry program.

Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Learn more about newborn screening from the Save Babies Through Screening Foundation, the National Newborn Screening and Genetics Resource Center and Baby’s First Test.

Genetic counseling is a process to evaluate and understand a family’s risk of an inherited medical condition. A genetic counselor is a healthcare professional with specialized training in medical genetics and counseling. For more information, visit the National Society of Genetic Counselors.

General internet searches can produce some great results, but they can also uncover dated information or incorrect information from unreliable sources.  It is always best to get your information from known and trusted sources. The Access To Credible Genetics Resource Network created the Trust It or Trash It tool.

Resources

NORD has assembled the following links and resources to help patients, families and caregivers affected by rare diseases.

Clinical Trials.Gov is a registry of federally and privately supported clinical trials conducted in the United States and around the world.

Center Watch is committed to providing patients and their advocates information on clinical trials, specific drugs, as well as other essential health and educational resources.

ResearchMatch provides patient-friendly information on current clinical trials and opportunities to volunteer to participate in studies.

The Center for Information and Study on Clinical Research Participation (CISCRP) educates the public, patients, medical/research communities, the media, and policy makers about clinical research and the role each party plays in the process.

The International Partnerships for Clinical Cancer Research on Cancer.gov website provides a central location for online resources that will help investigators outside the United States navigate the legal and regulatory issues that come with collaborating on clinical trials with US based research groups.

NIH Clinical Research Trials and You, NIH has developed a website to help people learn more about clinical trials, why they matter, and how to participate.

The EU Clinical Trials Register website allows you to search for information on clinical trials in European Union member states and the European Economic Area.

NORD’s High School Curriculum Supplement is a curriculum supplement on rare diseases for high school biology classes that contains background information for teachers and flexible classroom activities to promote active learning.

Rare Diseases and Scientific Inquiry, for grades 6-8, helps students explore how scientists research rare diseases and treatments and learn more about the workings of the human body. This is part of the NIH Curriculum Supplement Series.

Evolution and Medicine, for grades 9-12, helps students use scientific inquiry in the context of medicine to understand evolutionary principles, including human health, biomedical processes, and disease treatment. This is part of the NIH Curriculum Supplement Series.

This FDA webinar series includes recorded educational topics about FDA and rare disease issues.

Genetics Education Materials for School Success (GEMSS) is a website that school personnel can use to support students who have genetic conditions.

Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.

The GeneTests is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers that promotes the use of genetic services in patient care and personal decision making.

Informed Medical Decisions, Inc. is a nationwide-network of genetics experts available by telephone to help patients and providers harness the power of genetics to achieve the promise of personalized healthcare.

Know Your Genes is a public service provided by the Genetic Disease Foundation, a nonprofit foundation supporting research, education and the prevention of genetic diseases.

A Revolution in Progress Human Genetics and Medical Research is an exhibit produced by NIH. Cracking the genetic code allowed us to study diseases at the molecular level, which is increasing our knowledge of potential preventions and treatments for diseases.

The Talking Glossary of Genetics Terms features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.

The National Coalition for Health Professional Education in Genetics (NCHPEG) is committed to a national effort to promote health professional education and access to information about advances in human genetics to improve health care.

The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.

Genetics/Genomics Competency Center (G2C2) provides educational resources for group instruction or self-directed learning in genetics/genomics by health care educators and practitioners.

GINAhelp.org provides an introduction to the Genetic Information Nondiscrimination Act and its protections in health insurance and employment.

The National Coalition for Health Professional Education in Genetics put together a Discussion Guide for Clinicians on The Genetic Information Nondiscrimination Act (GINA).

View NORD’s State-by-State health information map.

For questions regarding:

  • health insurance or how the Affordable Care Act affects your state or your health insurance plan, contact your state’s Department of Insurance
  • problems with coverage within your health insurance plan, file a complaint with your Department of Insurance
  • your personal health insurance coverage, tips on shopping for health insurance, or advice and education materials on how to interact with your insurance company, contact your state’s consumer assistance program or your Department of Insurance
  • your state’s health care insurance marketplace, contact your state’s marketplace, or read your state’s Essential Health Benefits and State-Specific coverage requirements

Federal Marketplace: Particular states can appeal through the marketplace. These are Alabama, Arkansas, Idaho, Louisiana, Montana, New Jersey, Pennsylvania, Tennessee, West Virginia, and Wyoming. Appeal request forms with instructions found here.

Additional state appeal contact information for Alabama, Arkansas, Idaho, Louisiana, Montana, New Jersey, Pennsylvania, Tennessee, Texas, West Virginia, Wisconsin, and Wyoming, located here.

The National Health Council provides the Estimate My Costs tool to help people estimate their annual costs across health plans available in their state and the Explore My Options tool to help people see how different health conditions, medication use, and other variables impact out-of-pocket cost.

Marketplace.cms.gov has a wide variety of tools and resources to help people prepare to apply, enroll and get coverage.

HealthCare.gov is geared towards consumers and provides general information about the Marketplace and health insurance.

Enroll America is focused on maximizing the number of Americans who are enrolled in and retain health coverage.

The National Association of Insurance Commissioners assists state insurance regulators in serving the public interest and achieving fundamental insurance regulatory goals.

The Patient Advocate Foundation provides effective mediation and arbitration services to patients to remove obstacles to healthcare including medical debt crisis, insurance access issues and employment issues for patients with chronic, debilitating and life-threatening illnesses.

The StateHealthFacts.org is a project of the Henry J. Kaiser Family Foundation and is designed to provide free, up-to-date, and easy-to-use health data on all 50 states.

The American Bar Association’s Commission on Mental and Physical Disability Law promotes the ABA’s commitment to justice and the rule of law for persons with mental, physical, and sensory disabilities and to promotes their full and equal participation in the legal profession.

The Disability Rights Education and Defense Fund is a law and policy center to advance the civil and human rights of people with disabilities through legal advocacy, training, education, and public policy and legislative development.

Disability Rights Legal Center champions the rights of people with disabilities through education, advocacy, and litigation.

The Jennifer Jaff Center, Inc. provides patients with free information, advice and advocacy services in areas including but not limited to the following: access to medical records, obtaining health insurance coverage, and how to ensure that schools accommodate students with chronic illnesses.

The Patient Advocate Foundation provides effective mediation and arbitration services to patients to remove obstacles to healthcare including medical debt crisis, insurance access issues and employment issues for patients with chronic, debilitating and life-threatening illnesses.

Medical child abuse is a term that has come into use in recent years. It refers to a child receiving unnecessary and or even harmful care as a result of a parent exaggerating symptoms, fabricating physical findings or intentionally inducing illness in the child.

 

The Centers for Medicare & Medicaid Services provides information on the services available through the U.S. Department of Health and Human Services for the Medicare and Medicaid programs.

Medicare.gov is the official US Government site for Medicare.

Medicaid.gov is the official US Government site for Medicaid.

The Medicaid Waivers and Demonstrations List is put together by the Centers for Medicare and Medicaid Services about state-specific Medicaid waiver and demonstration programs and includes fact sheets, copies of proposals, approval letters, and other documents related to specific programs.

Extra Help for the Medicare prescription drug plan is now available for some Medicare beneficiaries.

The Center for Medicare Advocacy, Inc. is a national non-profit, non-partisan organization that provides education, advocacy, and legal assistance to help elders and people with disabilities obtain Medicare and necessary health care

The Kaiser Family Foundation Guide to Medicaid Appeals provides information about navigating the Medicaid State Appeals Process.

The Kaiser Family Foundation focuses on the major health care issues facing the US and provides facts, information, and analysis for policymakers, the media, the healthcare community, and the public.

The Medicare Rights Center ensures access to affordable health care for older adults and people with disabilities through counseling and advocacy, educational programs and public policy initiatives.

The Christopher and Dana Reeve Foundation is dedicated to curing spinal cord injury by funding innovative research, and improving the quality of life for people living with paralysis through grants, information and advocacy.

The Darrell Gwynn Foundation exists to provide awareness, prevention, support and ultimately a cure for paralysis. The Foundation helps improve the quality of life for those already afflicted with injury or illness, by providing necessary equipment or special services.

Friends of Disabled Adults and Children provides home health (mobility and daily living) equipment to people of any age or any disability, temporary or permanent, for medically necessary and medically helpful reasons.

Variety – The Children’s Charity is dedicated to improving the lives of children, Variety’s National Mobility Program provides assistance to children with mobility concerns.

Free Wheelchair Mission works to reduce suffering by sharing the gift of mobility with the world’s disadvantaged and disabled.

The Wheelchair Foundation creates awareness of the needs and abilities of people with physical disabilities and to deliver a wheelchair to every child, teen and adult in the world who needs one, but cannot afford one.

National Newborn Screening and Genetics Resource Center provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.

Save Babies Through Screening Foundation supports, assists and advocates for disorders that are detectable through newborn screening; are unlikely to be clinically diagnosed without screening; and cause mental retardation, physical disability and/or death in childhood when left untreated.

Disabled Peoples’ International is a network of national organizations or assemblies of disabled people, established to promote human rights of disabled people through full participation and the equalization of opportunity and development.

Easter Seals provides exceptional services, education, outreach, and advocacy so that people living with autism and other disabilities can live, learn, work and play in our communities.

The Job Accommodation Network provides guidance on workplace accommodations and disability employment issues, helps people with disabilities enhance their employability, and show employers how to capitalize on the value that people with disabilities add to the workplace.

Life Services helps families plan for the time when they will no longer be here to care for their loved-one and provides direct services to disabled people whose families have left assets for their care.

The Rehabilitation Institute of Chicago (RIC), provides resources and information that help people with disabilities work toward attaining their own personal goals.

The Rehabilitation Research and Training Center on Aging with Developmental Disabilities seeks to enhance the health, function, and full community participation of adults with intellectual and developmental disabilities and bolster family care giving capacity.

The National Foundation of Dentistry for the Handicapped (NFDH); a charitable affiliate of the American Dental Association; arranges comprehensive dental treatment and long-term preventive services to needy disabled, elderly or medically compromised individuals.

The National Organization on Disability (NOD) promotes the full participation of America’s people with disabilities in all aspects of life.

The National Rehabilitation Information Center (NARIC), offers resources for disability and rehabilitation-oriented information. NARIC is dedicated to providing direct, personal, and high-quality information services to anyone throughout the country.

New Horizons Un-Limited provides access to informational and technological tools to ensure that people with disabilities may have access to all that life has to offer.

TASH is an international association of people with disabilities, their family members, other advocates, and professionals fighting for a society in which inclusion of all people in all aspects of society is the norm.

NORD’s Rare Disease Fact Sheet provides the need-to-know information on rare diseases as a whole.

The Family Resource Center on Disabilities provides parents of children with disabilities with information, training, assistance, and support.

Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities by providing tools to make informed decisions, advocate for improved public and private policies, and build partnerships among professionals and families..

The Federation for Children with Special Needs is a center for parents and parent organizations to work together on behalf of children with special needs and their families.

The M.O.R.G.A.N. Project promotes awareness and support of parents caring for their special-needs children and works to enhance the quality of life for these special families.

The National Early Childhood Technical Assistance Center provides information on the Early Intervention Program for Infants and Toddlers with Disabilities.

The National Federation of Families provides advocacy for the rights of children and youth with emotional, behavioral and mental health challenges, provides assistance to a network of family run organizations, and collaborates with organizations to transform mental health care in America.

Parent to Parent USA provides emotional and informational support to families of children who have special needs.

The UnitedHealthcare Children’s Foundation facilitates access to medical-related services that have the potential to significantly enhance either the clinical condition or the quality of life of the child and that are not fully covered by the available commercial health benefit plan.

Social Security Administration runs disability programs including the Social Security and Supplemental Security Income disability programs.

Qualify and Apply for disability benefits through the Social Security Administration.

Social Security Administration’s Compassionate Allowances are a way of quickly identifying diseases and other medical conditions to target the most obviously disabled individuals for allowances based on objective medical information.

Social Security Disability Help provides information and assistance to individuals who are interested in filing a disability claim for Social Security Disability Insurance or Supplemental Security Income benefits.