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Resources & FAQs

Any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States is considered rare by the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA) and NORD. There are currently approximately 7,000 rare diseases listed by the NIH. View the full list from NIH.
Download NORD’s Rare Disease Fact Sheet.

NORD’s Rare Disease Database has reports in non-technical language on more than 1,200 rare diseases. NORD’s Organizational Database lists disease-specific patient advocacy organizations for rare diseases. The Genetic and Rare Diseases Information Center (GARD) at NIH provides information about all rare diseases.

NORD’s editorial team welcomes opportunities to work with rare disease medical experts and disease-specific patient organizations to develop new reports for the Rare Disease Database. Patient advocacy organizations whose medical advisors are interested in developing a new report on a topic not currently covered in this database may write to orphan@rarediseases.org.

If you would like the complete list of rare diseases, visit the NIH Genetic and Rare Diseases Information Center (GARD) website.

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 organizations in NORD’s Organizational Database.

Many patient organizations provide lists of medical experts. Search NORD’s Organizational Database to find disease-specific patient advocacy organizations. The Genetic and Rare Diseases Information Center (GARD) at NIH offers an information page about how to find a disease specialist.

Search for disease-specific patient organizations in NORD’s Organizational Database. You can also connect with individuals on our Facebook page and Twitter or by participating in Rare Disease Day or local advocacy activities.

A patient 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 and promote better understanding of a disease. NORD has a program to help patient organizations develop their own registries. Learn more about registries and read about NORD’s natural history registry program.

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 to treat rare diseases.  Research and development of products intended for small populations was considered too costly and had limited commercial value. 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 more than 500 FDA approved orphan drugs.

For more information on orphan drugs or orphan drug law, please visit FDA’s Office of Orphan Product Development as well as NORD’s Five Myths About Orphan Drugs and the Orphan Drug Act.

 

Clinical trials are research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. View the NIH webpage about clinical trials and search for current clinical trials on clinicaltrials.gov.

Patients with a serious or immediately life-threatening disease or condition for which there is no FDA-approved treatment may be able to gain access to an investigational drug under the FDA Expanded Access process. Expanded Access permits the product’s manufacturer, with the authorization of FDA, to provide an investigational drug for a patient, even though the drug is still in development or under review for FDA approval. Learn more from NORD’s Expanded Access FAQ.

The Expanded Access Navigator provides information for patients, caregivers and physicians about the process. Another helpful resource is FDA’s Expanded Access Information for Patients.

NORD’s Patient Assistance Programs help patients obtain life-saving or life-sustaining medications they could not otherwise afford. These programs provide medication, financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials or consultation with disease specialists. Other resources for medication and financial assistance are listed here.

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 to 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.

Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions that can cause serious health problems. Early diagnosis and treatment can help prevent intellectual and physical disabilities and life-threatening complications. Newborn screening is required in every state and each state determines which conditions to screen for. 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. The National Society of Genetic Counselors provides additional information.

This webpage lists resources that may be helpful for undiagnosed rare disease patients.

One of the resources listed is the Undiagnosed Diseases Network (UDN). UDN is a research study that brings together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.

In support of patients in the program, NORD’s Running for Rare Team supports the Undiagnosed Diseases Patient Assistance Program. This program, established in 2008, provides financial assistance to families who have exhausted all other alternatives for seeking a diagnosis. NORD helps cover the basic diagnostic testing needed for patients and families to apply for admission into the Undiagnosed Diseases Network.

Resources

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

To advocate is to support a specific cause, or to speak on another’s behalf. An advocate can be a family member, a caregiver, a medical professional, a policy maker, or a community member. No matter who or where you are, you can be an advocate and make a difference in the lives of rare disease patients and their families. Learn more about advocacy and how to get started by clicking on any of the links below.

NORD Policy Overview

Learn how you can get involved in NORD’s Rare Action Network.

NIH Clinical Research Trials and You provides basic information about clinical trials, why they matter, and how to participate.
Clinical Trials.Gov is a registry of federally and privately supported clinical trials conducted in the United States and around the world.
CenterWatch 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 EU Clinical Trials Register contains information on interventional clinical trials on medicines conducted in the European Union (EU), or the European Economic Area (EEA).

Blood collected from the human umbilical cord, which can be donated publicly or privately, provides medical researchers with access to stem cells, which play a significant role in the development of new treatments for Rare Diseases.

Cord Blood Banking – Information for Consumers from the US Food and Drug Administration provides an overview.

The American College of Obstetricians and Gynecologists FAQ provides answers to common questions about cord blood banking.

The Parents’ Guide to Cord Blood Banking Foundation provides information about cord blood banking, medical therapies and cord blood storage options.

The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects individuals from genetic discrimination in health insurance and employment.

GINAhelp.org provides an introduction to the GINA and its protections in health insurance and employment.

The National Human Genome Research Institute provides additional information.

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

Appeal request forms with instructions for the Federal Marketplace can be found here. State appeal contact information is located here.
The National Health Council provides a guide on how to estimate your costs across health plans available in their state.
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.
Families USA serves as the resource hub for materials created by Enroll America, 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.
Understanding Health Insurance is a toolkit provided by Global Genes to help patients and their families understand the intricacies of health insurance coverage, benefits, co-pays, and more.
HIPAA is an important aspect of health insurance and medical care that ensures the protection of private health information.

 

The Disability Rights Education and Defense Fund is national civil rights law and policy center directed by individuals with disabilities and parents who have children with disabilities that provides 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 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 Americans with Disabilities Act (ADA) protects patients with chronic illnesses / disabilities from discrimination in all aspects of public life, including employment, education, transportation, and all other forums considered to be open to the general public.

Medical child abuse is a term that has come into use in recent years. Also known as factitious disorder and formerly referred to as Munchausen by proxy, medical child abuse 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.

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.

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 supports the Freedom Program that delivers equipment and services for mobility, independence and social inclusion to individual children and children’s organizations.

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.

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 for Children’s Mental Health 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.

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 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 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.

Disabled American Veterans is an organization chartered by Congress that assists service members with disabilities (and their families) through a variety of means.

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

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.