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Undiagnosed Patients

It is hard to know how many people have undiagnosed rare diseases – many patients may not even be aware of their condition. But we do know that patients often must visit many physicians and may be given multiple misdiagnoses before receiving a correct diagnosis.

 

Why are some rare diseases harder to diagnose?

Some rare diseases are even more rare than others, and doctors may not be familiar with them. Often times, too, an unusual presentation of the disease may make it harder to diagnose. It is sometimes possible that undiagnosed patients have an entirely new rare disease.

18aRare diseases can be caused by many different factors. For some, environmental conditions may cause or worsen a condition. For others, genetic mutations or inherited genetics can cause a rare disease. Whatever the reason, NORD is here to support you through your journey to diagnosis

NIH Undiagnosed Diseases Network

The Undiagnosed Diseases Network (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 and 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.

Find out how NORD supports patients in the Undiagnosed Disease Network through our UDN Patient Assistance Program!

 

UDN-LOGO

6aUndiagnosed Patient Registry

A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Individuals provide this information to the registry on a voluntary basis. This collection of medical data can help to lay the groundwork for future research and further our understanding of a condition.

NORD has developed a unique registry for undiagnosed patients to input their medical information. This information can set the foundation for future research and possible discoveries of new diseases or new treatments. Learn more about NORD’s undiagnosed patient registry here.

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Keeping Your Information Safe

It is important to keep your medical records safe and private. When inputting your data online, there are a few things to keep in mind. Follow these guidelines to make sure your medical records stay safe.

  • Never pay to give someone your information.
  • Make sure you know how and where your information is being used.
  • Make sure you can remove your information upon request whenever you so choose.
  • Make sure your information is not being sold.

NORD’s Undiagnosed Patient Registry is a HIPPA-compliant collection of medical data. Your medical records are safe with us, and may assist researchers in finding treatments or cures. Input your data here.

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Researching Online

While plenty of great medical information exists online, there is also plenty of dated or incorrect information. If you turn to the internet to seek information on possible diagnoses, it is always best to get your information from trusted and reliable sources. The Access To Credible Genetics Resource Network created a Trust It or Trash It tool to help you find trustworthy medical information.

NORD’s Rare Disease Reports are a great source of information on over 1,200 different rare diseases. Click here to view these reports.

The NIH National Human Genome Research Institute has developed a guide to finding reliable health information online. The guide contains helpful links and more guidance on using online resources to research rare diseases.

Patients should rely on the personal and individualized medical advice of their qualified healthcare providers and consult a healthcare professional on any information found online.

 

Next Steps

The journey to a diagnosis may be a long one, but never a hopeless one.

For some, the key to a diagnosis may lie in genetic testing. Because many rare diseases are genetically-based, genetic testing may identify the faulty genes causing a condition. Click here to view the NIH Genetic and Rare Diseases (GARD) Information Center’s resources on genetic testing information and where you can find such services.

Patients should continue to see their healthcare providers and receive medical treatment while seeking a diagnosis. Continued testing and visits to specialists are steps along the path to a diagnosis. Harvard Health has developed a list of different specialties and what they do in order to help you find a specialist that may be able to diagnose you. View the list here

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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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.