You Can Get Help With Rare Diseases

• Any disease, disorder, illness, or condition affecting fewer than 200,000 people in the United States is considered rare, as defined by the National Institutes of Health (NIH) and US Food and Drug Administration (FDA) There are currently approximately 7000 rare diseases listed by the NIH.
• Download NORD’s Rare Disease Fact Sheet

• NORD’s Rare Disease Database has reports in non-technical language on more than 1200 rare diseases
• Our Organizational Database lists disease-specific advocacy organizations
• The Genetic and Rare Diseases Information Center (GARD) at NIH provides information about all rare diseases

• Our editorial team welcomes opportunities to work with rare disease medical experts and patient organizations to develop new reports
• Patient advocacy organizations whose medical advisors are interested in developing a new report on a topic not currently covered in this database may reach out to orphan@rarediseases.org

• Many patient organizations provide lists of medical experts. Search NORD’s Organizational Database to find disease-specific patient advocacy organizations
• NORD Rare Disease Centers of Excellence are diagnosing and treating thousands of rare disease patients.

• Search for disease-specific patient organizations in NORD’s Organizational Database
• Connect with individuals on our Facebook page and Twitter
• Participate 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 a better understanding of a disease
• 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. Today, there are more than 500 FDA-approved orphan drugs
• 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 were considered too costly and have limited commercial value
• The Orphan Drug Act of 1983 provided new incentives for companies to develop treatments for diseases affecting fewer than 200,000 Americans
• For more information on orphan drugs or orphan drug law, please visit the 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
• The Expanded Access Navigator provides patients, caregivers, and physicians information about the process. Another helpful resource is the FDA’s Expanded Access Information for Patients. Learn more from NORD’s Expanded Access FAQ

• NORD’s Patient Assistance Programs help patients obtain lifesaving 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 consultations 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 US to solve the most challenging medical mysteries using advanced technologies
• The Undiagnosed Diseases Patient Assistance Program 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

This list of gene therapy centers in the US is intended for use by patients, advocates, and caregivers who are seeking gene therapy research for a rare disease