Global Resources for Information About Specific Rare Conditions or Undiagnosed Disorders
A rare condition affects fewer than 200,000 individuals in the United States. However, there are more than 7,000 rare conditions. As a result, approximately 10% of individuals have a rare condition. These reputable portals are a good starting place and provide links for additional information:
NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives. NORD strives to elevate care, advance research, and drive policy in a purposeful and holistic manner to lift up the rare disease community.
Unique provides support, information, and networking to families affected by rare chromosome and gene disorders. Our helpline team can help you understand your family member’s diagnosis and connect you with others.
The Genetic and Rare Diseases (GARD) Information Center team is available to answer questions and provide support through phone and email. GARD uses information from reputable sources, such as the National Library of Medicine, Orphanet, Human Phenotype Ontology, patient support groups, and other NIH institutes and centers to compile comprehensive and understandable information.
Every year hundreds of patients face uncertainty when healthcare providers are unable to
discover the cause for their symptoms.
The Undiagnosed Diseases Network (UDN) is a research study backed by the National Institutes of Health that seeks to provide answers for patients and families affected by these mysterious conditions.
Local Resources
There are several resources in Utah for individuals and families influenced by rare and undiagnosed conditions. Many individuals are initially evaluated as children with special needs. As a result, many resources are focused on helping the families of children; however, the resources may also provide important information for adults.
The Utah Parent Center provides a wide variety of resources for individuals with disabilities in English and Spanish.
The Utah Parent Center provides specific information about the following topics:
- Navigating the Division of Services for People with Disabilities
- Applying for Supplemental Social Security Income (SSI)
- Individualized Education Programs (IEP)
- Behavior Interventions in School
- School District Consultants
- Planning for the Future
Comprehensive planning for our loved ones encompasses three different professional disciplines: legal planning (estate planning), disability planning (creating a team of caregivers, benefits selection, management, and the letter of intent), and financial planning (knowing the financial commitments required to ensure an individual can live comfortably for their entire lifetime). The Utah Parent Center provide information to help plan for these disciplines and the transition to adult care.
Division of Services for People with Disabilities
The Division of Services for People with Disabilities (DSPD) within the Utah Department of Health and Human Services oversees home and community-based services for individuals with disabilities in Utah. You can apply for services through their website.
The DSPD has intake workers on staff whose primary responsibility is to work with you to determine if you or your loved one is eligible for services. Information on this site is also available in Spanish.
Medically Complex Children’s Waiver
The Medically Complex Children’s Waiver is a Medicaid program in the Integrated Healthcare Division of the Utah Department of Health and Human Services. Children enrolled in this program will have access to traditional Medicaid benefits as well as respite services. The application requires recent clinical documentation, such as clinic notes from a physician in the past 24 months. Information on this site is also available in Spanish.
Division of Services for People with Disabilities: Additional Waivers
Medicaid waivers are available individuals who do not qualify for the Medically Complex Children’s Waiver. DSPD provides a wide range of services intended to help people with disabilities participate more fully in their communities and lead self-determined lives.
The type of services available depends on which waiver the person qualifies for. These services are primarily funded through Medicaid waivers, which are paid for by the federal government and appropriations by the Utah Legislature. Information on this site is also available in Spanish.
The Medical Home Portal was developed to help families, physicians, and others find reliable information and access valuable professional and community resources to improve the care, health, and outcomes of children and youth with special health care needs. Their mission was to provide reliable, practical, and evidence-based information, valuable local and national services and resources, and support. The Medical Home Portal is currently transitioning to a new site, Topical Reviews in Pediatrics. As a result, the content at this site may change over time.
Examples of resource listed on this website include:
- Finding Quality Information
- Understanding Healthcare Problems
- Family Support
- Meeting Your Child’s Needs
- Working with Providers
- Life Transitions
Every year hundreds of patients face uncertainty when healthcare providers are unable to
discover the cause for their symptoms.
The Take Care Utah team assists with: (1) providing application assistance in multiple languages for Medicaid, CHIP, or Marketplace; (2) conducting case management throughout the eligibility process; (3) guidance in selecting health plans; (4) providing insurance literacy education after enrollment to ensure benefits can be accessed, and; (5) providing ongoing assistance with renewals or reviews to maintain coverage. You can schedule an appointment to meet with someone for hands-on assistance with your application(s).
JAN helps individuals with disabilities explore accommodation ideas and provides practical suggestions for requesting and negotiating accommodations with an employer. JAN also provides basic information about the employment provisions of the Americans with Disabilities Act (ADA).
Additional Valuable Resources
A rare condition affects fewer than 200,000 individuals in the United States. However, there are more than 7,000 rare conditions. As a result, approximately 10% of individuals have a rare condition. These reputable portals are a good starting place and provide links for additional information:
211 Utah has links to connect you to health and human resources in a wide variety of areas. You can search the website, call 2-1-1, or text to find resources. 211 Utah is the state’s leading resource connecting Utahns in need with local health and social services.
This free and confidential service is supported by United Ways of Utah.
The United Angels Foundation (UAF) is a non-profit, parent-to-parent support group. The primary mission of the foundation is to support parents and families of individuals with special needs.
The Rare and Undiagnosed Network (RUN) is a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.
We empower the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments, and cures.
Primary Children’s Hospital
The goal of Primary Children’s Center for Personalized Medicine is to provide hope and care for every child, using the most advanced technologies in diagnosis and treatment. The Center for Personalized Medicine is a multi-disciplinary team of physicians, scientists, genetic counselors, molecular biologists, bioinformaticians, staff, social workers and therapists.
Penelope Program
Undiagnosed diseases are some of the most daunting challenges in medicine. Families often spend years—if not decades—searching for answers to the mysterious illnesses affecting their children. Responding to this challenge, the U of U Health in 2015 launched the Penelope Program.