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Undiagnosed Rare Disease Patients

Patients and families coping with undiagnosed rare medical conditions may experience unique challenges in accessing appropriate medical care and social support. Undiagnosed patients include those who are “not yet diagnosed” because they have not been referred to the appropriate medical specialist as well as patients who have a condition not previously described and for which a diagnostic test is not yet available.

Support for the undiagnosed is an important part of NORD’s mission. This includes advocacy on important public policies as well as educational outreach to medical professionals and students. In 2016, NORD collaborated with an international group of patient organizations to address the needs of undiagnosed patients. Read the final report and key recommendations.


Undiagnosed Rare Disease Registry

The National Organization of Rare Disorders (NORD)®, is pleased to announce the launch of the Undiagnosed Rare Disease Registry. The Undiagnosed Rare Disease Registry supports research on rare diseases and how they progress over time – natural history studies.

OVERVIEW OF RESEARCH STUDY

The primary aim of the Undiagnosed Rare Disease Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of undiagnosed rare diseases and the course and pace of those diseases over time.

This study aims to limit the diagnostic odyssey of individuals with undiagnosed rare diseases through: 

  • Building a community of individuals affected by undiagnosed rare diseases;
  • Collecting relevant data regarding participant demographics, symptoms of concern and quality of life and; 
  • Informing researchers, clinicians and regulatory agencies.  

The Undiagnosed Rare Disease Registry is more than a versatile online system that securely collects and stores data for medical research; it is a dynamic participant-driven resource that can empower and unite the undiagnosed rare disease community through shared knowledge. With the Undiagnosed Rare Disease Registry, participants not only can complete surveys about their own disease experiences, but also can learn about other participants’ experiences by viewing aggregated survey data. As the Undiagnosed Rare Disease Registry sponsor, NORD will ensure that data privacy and confidentiality are strictly maintained. Participation in the Undiagnosed Rare Disease Registry is free and voluntary, and participants may withdraw at any time.

COMMUNITY INVOLVEMENT

The Undiagnosed Rare Disease Registry is a powerful opportunity for individuals with undiagnosed rare diseases and their family members to contribute directly to research that will enhance understanding of their undiagnosed rare disease, thus facilitating the development of new diagnostic and treatment options. Participation is especially vital given the rarity of these undiagnosed conditions – every patient experience is a unique and invaluable part of the natural history of undiagnosed rare disease.

Join at undiagnosed.iamrare.org 

For further information, please contact [email protected]

Click here to view Frequently Asked Questions.

 

The Undiagnosed Diseases Network (UDN)

The UDN is the leading clinical research study for undiagnosed patients. Funded by the National Institutes of Health (NIH) Common Fund, the study bridges the gap between clinical care UDN-LOGOand research by bringing together experts from around the country to seek diagnoses for the most complex undiagnosed cases. Using advanced technologies and leading experts, the UDN furthers our understanding of how the human body works with the ultimate goal of providing a diagnosis to participants. Their research has led to the discovery of new rare diseases.

If you are a patient interested in applying to the UDN, click here for more information on the UDN and how to apply.

 

Genetic Evaluation

 

Since 80% of rare diseases have a genetic component, it is often helpful for undiagnosed patients to be evaluated at a clinical genetics center. It may also be helpful for them to be evaluated at a major teaching hospital, where it may be more likely that medical staff will have seen others with similar symptoms.

Genetic testing is often an important part of the diagnostic work-up for undiagnosed patients. The Undiagnosed Diseases Network (UDN) has compiled an introduction to genetic testing here.

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Researching Online

The NIH National Human Genome Research Institute has developed a guide to finding reliable health information online. Individuals conducting any research online, including related to lack of diagnosis, may find this resource helpful.

 

 

Resources for Undiagnosed Patients 

Syndromes Without A Name (SWAN) USA

SWAN USA is a 501(c)3 that advocates for awareness and policy change to benefit rare disease patients – particularly those with undiagnosed conditions – and brings together undiagnosed patients and families to support one another.

RareConnect

RareConnect is a platform for rare disease patients and families from around the world to connect. Through online communities, patients can connect and share the struggles and triumphs of their rare disease experience. An Undiagnosed Diseases Community exists to share stories and participate in discussion. Join today to share your story and connect with others on the journey to a diagnosis.

NIH Genetic and Rare Diseases (GARD) Information Center

GARD has compiled a list of Tips for Undiagnosed Patients that contains helpful information on how to navigate the path to a diagnosis. In addition, their list of Resources for genetic testing information may be helpful to patients seeking a diagnosis through genetic testing.

Rare & Undiagnosed Network

The Rare & Undiagnosed Network (RUN) advocates for genomic medicine to be incorporated into clinical practice and hosts a blog for undiagnosed patients and families.

Wilhelm Foundation

The Wilhelm Foundation advocates for undiagnosed patients and organizes the World Congress for Undiagnosed Diseases to foster collaboration between the world’s leading specialists.

ClinicalTrials.gov

ClinicalTrials.gov is an online database of current, future, and past clinical studies around the world that connects patients and physicians to information and clinical trial opportunities.

Cheyanna's Champions 4 Children (CC4C)

CC4C provides children with rare or undiagnosed conditions and their families in the Central Texas area with resources to help meet the child’s medical needs not covered by insurance or other financial assistance.

Next Steps

 

Share your story with NORD to raise awareness for undiagnosed rare diseases.

View our FAQ & Resources for all rare disease patients to help you on your journey to a diagnosis.

See our collection of State Health Insurance Information for help in receiving the coverage you need in your state.

 

 

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