Rare Diseases
New York State Rare Disease Workgroup Report
The New York State Rare Disease Workgroup was convened in response to legislation passed in New York State (Article 27-L of the Public Health Law). The purpose of the Workgroup was to identify best practices that could improve the awareness of rare diseases and referral of people with potential rare diseases to specialists, and to evaluate barriers to treatment, including financial barriers on access to care. The Workgroup also compiled a list of resources on research, diagnosis, treatment, coverage options, and education relating to rare diseases. The report based on the workgroup's recommendations can be found here (PDF) .
Rare Disease Resources for Individuals, Families, and Caregivers
What is a Rare Disease?
In the United States, the National Institutes of Health (NIH) defines a rare disease as a condition that affects fewer than 200,000 people. Although individual diseases may be rare, it is estimated that there are more than 10,000 rare diseases that collectively affect about 1 in 10 people, or 1.8 million New Yorkers.
What Causes Rare Diseases?
Rare diseases have many different causes, although about 80% are thought to have a genetic cause. Rare diseases also include some infections, autoimmune diseases, some types of cancer, diseases caused by exposure to toxins or other environmental factors, and some conditions with multiple causes. For some rare diseases, the cause is not known.
How Can I Get Help?
People with rare diseases often face challenges with getting a diagnosis, accessing information, affording treatment, and finding support and resources. The New York State Rare Disease Workgroup developed this list of resources to assist and support people with rare diseases, including those who are searching for a diagnosis for their condition, and their families.
The list is organized around the general topic areas of getting a diagnosis, finding information about your disease, getting medical care and health insurance, finding clinical trials and research, getting financial and transportation assistance, accessing support for patients and caregivers, and preparing for emergencies.
Getting a Diagnosis
Institute for Basic Research in Developmental Disabilities (IBR)
The IBR focuses on the causes of developmental disabilities and furthers the understanding of brain development and pathology. The Institute also provides extensive, specialized biomedical, psychological and laboratory services to people with developmental disabilities and their families, and educates the public, researchers and health and education professionals regarding the causes, diagnosis, prevention, and treatment of developmental disabilities.
National Genetics Education and Family Support Center
Home | National Genetics Education and Family Support Center (nationalfamilycenter.org)
The National Genetics Education and Family Support Center provides tools and resources to support family engagement and genetic services. The site contains information about genetics and resources for families on a variety of rare diseases.
New York State Department of Health's Newborn Screening Program
Newborn Screening Program | New York State Department of Health, Wadsworth Center
Newborn screening refers to medical tests, the majority of which are genetic, performed to identify babies with certain disorders, which without intervention, may permanently impact newborns and their families. Early recognition and treatment of most of these disorders leads to a better outcome for the newborn. The Newborn Screening Program's goal is to help affected babies live as long and normal of a life as possible.
New York State Physician Profile
New York State Physician Profile (nydoctorprofile.com)
The purpose of the New York State Physician Profile website is to enable the public to review information about all licensed doctors of medicine and doctors of osteopathy who are registered to practice medicine in New York State. This information can help you choose a doctor or find out more about a doctor you are currently seeing.
New York Mid-Atlantic Caribbean (NYMAC) Regional Genetics Network
Home - NYMAC - Regional Genetics Network (nymacgenetics.org)
A network of family groups, health care providers, public health groups, and other partners that work together toward a goal of making it easier for families to connect to the genetic services and information they need.
Pathways
Pathways.org | Tools to maximize your child's development
The Pathways site provides free resources to help understand, track, and encourage your baby's milestones for the best possible outcomes.
The Undiagnosed Diseases Network (UDN)
UDN | Undiagnosed Diseases Network (harvard.edu)
The UDN is a research study funded by the National Institutes of Health Common Fund. The UDN is made up of clinical and research centers across the United States working to improve diagnosis and care of patients with undiagnosed diseases. The UDN has two main goals: 1) to provide answers for patients and families affected by mysterious conditions, and 2) to learn more about rare and common diseases.
Finding Information about your Disease
Genetic and Rare Disease (GARD) Information Center
or call GARD at 1-888-205-2331 to speak to an information specialist about rare or genetic diseases in English or Spanish.
GARD is an information center designed to provide comprehensive information about rare and genetic diseases to patients, their families, health care providers, researchers and the public.
National Center for Advancing Translation Sciences (NCATS)
NCATS offers free materials and resources to help patients, caregivers, patient support organizations, health care providers and scientists learn about rare diseases and help advance research on them.
National Organization for Rare Disorders (NORD)
National Organization for Rare Disorders | NORD (rarediseases.org)
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
Unique
Disorder Guides - Unique (rarechromo.org)
Unique is a registered charity that provides information for families and professionals regarding rare chromosomal disorders or single gene disorders.
GeneReviews
GeneReviews® - NCBI Bookshelf (nih.gov)
International point-of-care resource for health care providers regarding clinically relevant and medically actionable information for inherited conditions, covering diagnosis, management, and genetic counseling.
Getting Medical Care and Health Insurance
Medicaid
New York's Medicaid program provides comprehensive health coverage to lower-income New Yorkers. Medicaid pays for a wide range of services, depending on your age, financial circumstances, family situation, or living arrangements. These services are provided through a large network of health care providers that you can access directly using your Medicaid card or through your managed care plan if you are enrolled in managed care.
NY State of Health (NYSOH)
Help to find low cost, quality health insurance options available through the Individual Marketplace. Compare health plan options and apply for assistance that could lower the cost of health coverage. This includes finding out if you qualify for health care coverage from Medicaid or Child Health Plus. For help in applying, you can also call NYSOH at 1-855-355-5777 and for TTY: 1-800-662-1220, from Monday to Friday 8am to 8pm and Saturday from 9am to 1pm.
New York State Department of Health: Children and Youth with Special Health Care Needs (CYSHCN) Program
Children and Youth with Special Health Care Needs (CYSHCN) Program (ny.gov)
The Children and Youth with Special Health Care Needs Program seeks to improve the system of care for children and youth with special health care needs from birth and up to 21 years of age and their families. New York State also provides financial supports and technical assistance to programs in most counties in the state that help families of CYSHCN by giving them information on health insurance and connecting them with health care providers. These programs will also work with families to help them meet the medical and non-medical needs of their children. For a full list of counties, visit LHD contact information.
NYS Health Profiles
NYS Health Profiles: Hospitals
Searchable database of hospitals, nursing homes, home care, hospice, adult care, and other providers in New York State. The information is available by county, region, and services offered.
NYS Office of Mental Health licensed providers
Find a Mental Health Program (ny.gov)
Allows users to search on basic, advanced, and full levels to find programs, locations, and provider information to fit their specific needs.
NYS Provider & Health Plan Look-Up Tool
NYS Provider & Health Plan Look-Up Tool
Use this tool when you are deciding which health plan to enroll in or when you are looking for a provider, for example a hospital or doctor, that works with your plan. The tool is updated with information sent to New York State directly by health plans. But to be on the safe side, you should still ask the provider if they accept your health plan and participate in your network before receiving health care services or before enrolling in a health plan.
National Organization for Rare Disorders (NORD)-Centers of Excellence
Centers of Excellence Archive - National Organization for Rare Disorders (rarediseases.org)
This resource allows the user to search by diagnosis or state to find specific Centers of Excellence. Centers of Excellence brings together medical teams experienced in diagnosing and treating a wide array of rare diseases.
Psychology Today
Psychology Today: Health, Help, Happiness + Find a Therapist
This resource allows the user to search for state specific mental health professionals, treatment centers, and support groups. Also allows for a search of online therapy. The list of mental health professionals provides a bio and picture, as well as credentials, insurance accepted, fees and contact information.
Finding Clinical Trials and Research
ClinicalTrials.gov
ClinicalTrials.gov is a website and online database of clinical research studies and information about their results. It is maintained by the National Institutes of Health's National Library of Medicine. Patients and healthcare professionals can find studies that patients may be able to join.
NIH National Center for Advancing Translational Sciences
The Rare Disease Clinical Research Network (RDCRN)
The RDCRN program is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation.
ResearchMatch
ResearchMatch is a program funded by the National Institutes of Health (NIH). It helps connect people interested in research studies with researchers from top medical centers across the U.S.
Getting Financial and Transportation Assistance
RareCare Program
Financial Assistance For Patients With Rare Diseases | NORD
NORD's RareCare program helps patients obtain life-saving or life-sustaining medication they could not otherwise afford. The program also provides financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials or consultation with disease specialists.
Patient Advocate Foundation: Co-Pay Relief Program
Co-Pay Relief – Patient Advocate Foundation | Co-Pay Relief (copays.org)
The Patient Advocate Foundation's Co-Pay Relief (CPR) program provides direct financial assistance to qualified patients with co-payments, co-insurance or cost-sharing associated with prescription drugs through funds dedicated to specific disease states. In some instances, assistance with insurance premiums and/or ancillary services associated with the disease also may be available.
myBenefits
myBenefits is an online tool for New York State residents. Users can apply online for the Supplemental Nutrition Assistance Program (SNAP), the Home Energy Assistance Program (HEAP), and/or Public Assistance; recertify for SNAP and/or Public Assistance; Report Changes; and View Case Details.
Patient Travel Assistance
About Mercy Medical Angels | Medical Transport Restore Patients' Health
This resource's mission is to remove the barrier to medical care with transportation on the ground and in the air. Ground transportation is provided with gas cards, bus or train tickets. Air transportation is often flown by volunteer pilots or a commercial airline pilot.
Air Travel Assistance
Free Medical Flights for Patients with Patient Airlift Services (palservices.org)
Patient AirLift Services (PALS) is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially. PALS also serves veterans in need of flights.
Train Travel Assistance
Rails to Recovery | Medical Care Discount | New York by Rail
Rails to Recovery, through Amtrak partnering with Voices of Hope, offers one free companion Rail Fare with the purchase of an adult ticket, enabling a companion to travel with someone who is traveling by train within NYS to receive medical treatment. Reservations must be made and requires 3 days notice. To register for this service, visit Voices of Hope - Albany, NY - Rails to Recovery (voicesofthecapitalregion.org)
Jake's Help from Heaven (general, travel, emergency, and technology grants)
Home | Jake's Help From Heaven (jakeshelpfromheaven.org)
Jake's Help from Heaven provides assistance in two different ways – through their grant application program and through their equipment exchange program. Grant applications can be submitted online for emergency support, general requests, travel reimbursement and technology requests. If in need of borrowing adaptive equipment, and within 100 miles of Saratoga, requests may be made by email.
Friends of Man (financial assistance for childcare, equipment, prescriptions)Help with daycare/childcare, medical equipment, prescriptions: work through Referring Professionals (caseworkers, case managers, healthcare workers, social workers, school counselors, teachers, clergy) who apply on behalf of their patients and clients needing mobility equipment, prosthetics, glasses, dentures, hearing aids, etc.
NYS OCFS Child Care Assistance Program (CCAP)
Resource to help find and pay for quality childcare. The NYS CCAP helps eligible families with some or all of the cost of child care. Families may qualify based on income, reasons for needing day care, and a child's age or individual needs.
Good Days
Good Days | Effective Compassion | Copay Assistance (mygooddays.org)
A national non-profit charitable organization that lifts the burdens of chronic illness through assistance, advocacy, and awareness. Travel, copay, premium and diagnostic testing assistance is available for specific chronic diseases.
Elderly Pharmaceutical Insurance Coverage (EPIC)-Co-pay assistance
Elderly Pharmaceutical Insurance Coverage (EPIC) Program (ny.gov)
Program that provides seniors with co-payment assistance for Medicare Part D covered prescription drugs after any Part D deductible is met. EPIC also covers many Medicare Part D excluded drugs.
Accessing Support for Patients and Caregivers
Front Door
Front Door | Office for People With Developmental Disabilities (ny.gov)
A service of the New York State Office of People With Developmental Disabilities (OPWDD). Front Door connects eligible individuals to services such as employment, day services, and housing.
Resources for Assistive Technology, Environmental Modifications, and Vehicle Modifications
https://opwdd.ny.gov/types-services/AT-E-Mods-V-Mods
A service of the New York State Office of People With Developmental Disabilities (OPWDD). Assistive Technology, Environmental Modifications, and Vehicle Modifications are all supports eligible individuals can request through the OPWDD Comprehensive Waiver.
New York State Early Intervention Program
health.ny.gov/community/infants_children/early_intervention/
The New York State Early Intervention Program (EIP) is part of the national Early Intervention Program for infants and toddlers with disabilities and their families. To be eligible for services, children must be under 3 years of age and have a confirmed disability or established developmental delay, as defined by the State, in one or more of the following areas of development: physical, cognitive, communication, social-emotional, and/or adaptive. The Early Intervention Program offers a variety of therapeutic and support services to eligible infants and toddlers with disabilities and their families.
NYS HEARS Family Line
The Office of Children and Family Services- Help, Empower, Advocate, Reassure and Support (HEARS) family line supports parents and families by providing resources and referrals to a variety of services. Caring representatives guide families to services including food, clothing, housing, medical and behavioral health care services, parenting education and childcare. Representatives are available at 1-888-55HEARS (1-888-554-3277) Monday through Friday from 8:30 a.m.-4:30 p.m.
ARCH National Respite Network and Resource Center
Home | ARCH National Respite Network & Resource Center (archrespite.org)
ARCH provides resources to help caregivers and families locate respite and crisis care programs.
Caregiver Action Network (CAN)
Provides education, peer support, and resources to family caregivers.
- Caregiver Action Network's Caregiver Help Desk offers free support to family caregivers across the country: Caregiver Help Desk | Caregiver Action Network
- Caregiver Action Network also offers information tailored for family caregivers of loved ones with rare diseases: Caring for Rare Disease Caregivers (rarecaregivers.org)
NYS Council on Children and Families Multiple Systems Navigator Website
Multiple Systems Navigator Website :: NYS Council on Children and Families
This resource allows users to access health, education, human service, and disability information on one website. Built for youth, parents, family members and caregivers that rely on supports from multiple child and family serving systems.
For general help: Call 211 or in NYC call 311
- Call 211 for Essential Community Services | United Way 211
Run by the United Way, 211 is an information and referral service that is open 24 hours a day, 7 days a week, 365 days a year. It is the simplest way for New Yorkers to get the assistance they need to connect to important services such as housing, food, transportation, and health care. - Home ~ NYC311
NYC 311 Customer Service Center provides the public with quick, easy access to non-emergency government services and information through the call center.
NYS Office of Mental Health Program Directory
Find a Mental Health Program (ny.gov)
Allows users to search on basic, advanced, and full levels to find programs, locations, and provider information to fit their specific needs.
NYC: Free, Confidential Mental Health Support Call/Text 988
NYC 988 - Talk. Text. Chat. 24/7 (cityofnewyork.us)
NYC 988 is New York City’s free, confidential support, crisis intervention, and information and referral service for anyone seeking help for mental health and/or substance misuse concerns, available 24 hours a day, 7 days a week, 365 days a year. NYC 988 also offers telephone interpretation in over 200 languages.
Courageous Parents Network
CPN | Courageous Parents Network
This resource orients and empowers parents and others caring for children with serious medical conditions, by providing tools that reflect the experience and perspective of other families and clinicians.
Preparing for Emergencies
American Academy of Pediatrics: Disaster Preparedness Resources
Disaster Preparedness Resources for Families (aap.org)
Information about how to prepare for a disaster, including assembling a Family Readiness Kit and completing an Emergency Information Form.
New York State Department of Health: Health Information Document
Pre-folded pocket card that helps communicate vital life-saving information during an emergency and also relays information about emergency contact. Available in multiple languages.
- PDF version can be downloaded Health Information Document
- Printed copies can be ordered using the publication order form (publication number is 0972).
Ready Campaign
Plan Ahead for Disasters | Ready.gov
Ready is a National public service campaign designed to educate and empower the American people to prepare for, respond to and mitigate emergencies and disasters. The goal of the campaign is to promote preparedness through public involvement.
- Information for People with Disabilities: People with Disabilities | Ready.gov
- Home Fire Escape Plan: Practice Your Home Fire Escape Plan | Ready.gov
Red Cross: How to Prepare for Emergencies
How to Prepare For Emergencies | Be Red Cross Ready | Red Cross
Information outlining the steps people can take in advance to prepare for an emergency, including assembling a survival kit, making an emergency plan, and being informed.
- Disaster Safety for People with Disabilities: Inclusive Preparedness Resources | American Red Cross
