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NIH- Tips for the Undiagnosed

Tips for the Undiagnosed


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Trying to find an underlying diagnosis for many conditions can be a very long and frustrating experience. With more rare conditions, a diagnosis can often take many years. Although this can be incredibly difficult, the following information may help you navigate through the process of trying to obtain a diagnosis.

Where can I find out how to cope with an undiagnosed condition?To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see:

Global Genes has developed a resource for people with undiagnosed conditions called "Becoming An Empowered Patient: A Toolkit For The Undiagnosed."


Are there research programs available for people without a diagnosis? 
Yes. If an individual’s health care providers and specialists have not been able to make a definite diagnosis so far, participating in a research study or clinical trial may be another option. See below for a description of some of the National Institutes of Health (NIH) research programs that are going on now:
The Undiagnosed Diseases Network (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. Physicians and patients with additional questions may call 1-844-746-4836 (1-844-Ring-UDN).
ClinicalTrials.gov is database that provides current information on clinical research studies. You can search ClinicalTrials.gov for research studies looking at general categories of diseases (e.g. neurological diseases or eye diseases) or specific symptoms. Some studies accept individuals without a diagnosis with the research goal of making a diagnosis.
One study that is enrolling individuals who do not have a diagnosis is entitled "Pediatric patients with Metabolic and Other Genetic Diseases". This study is evaluating individuals with known or suspected genetic diseases, including metabolic diseases. Despite the name, people of all ages may be eligible for this study.
To find out more about clinical trials that take place at the NIH, you can call the NIH Clinical Center to talk to a specialist.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
National Institutes of Health
Bethesda, Maryland 20892-2655
Toll-free: (800) 411-1222
Fax: (301) 480-9793
E-mail: prpl@mail.cc.nih.gov 

How can I learn more about clinical trials?
 
If you or someone you know is interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at ClinicalTrials.gov.
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed in the GARD Help with Travel Costs guide.

Are there any advocacy groups for people with an undiagnosed condition? Yes. See below for additional information and supportive resources for individuals with an undiagnosed condition and their families.
Syndromes Without A Name (SWAN) is a supportive organization for families of children who have undiagnosed, unnamed conditions, or who are still looking for a diagnosis.
Syndromes Without A Name (SWAN)
United States
Toll-free: 888-880-SWAN
Telephone: 269-692-2090
E-mail: info@swanusa.org 
Web site: http://swanusa.org/
The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. The NORD Web site includes information on medication assistance programs and networking programs, a resource guide, and links to other online resources. You can get this information through NORD's Web site or by calling or writing the NORD offices.
National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll free: 800-999-6673 (voicemail only)
Telephone: 203-744-0100
TDD: 203-797-9590
Fax: 203-798-2291
E-mail: orphan@rarediseases.org
Web site: http://www.rarediseases.org/
NORD recognizes that 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.

Genetic Alliance has partnered with Inspire.com to launch an online community for people with rare diseases called the Genetic Alliance Rare Disease & Genetic Conditions Support Community. This community connects patients, family members, friends, and caregivers.


Who should I talk to if I have financial concerns?
 
It can sometimes take many years of specialized appointments and testing for a condition to be diagnosed, and this affects many individuals and families financially.
The Patient Advocate Foundation is a non-profit organization that serves as a liaison between families and their insurer, employer or creditors to resolve insurance, job retention and/or debt crisis matters related to their medical conditions. You can contact the Patient Advocate Foundation for further information.
Patient Advocate Foundation
421 Butler Farm Road
Hampton, VA 23666
Telephone: 800-532-5274
Fax: 757-873-8999
E-mail: help@patientadvocate.org
Web site: http://www.patientadvocate.org 

Are there organizations that can help with the cost of travel? 
Yes. Traveling to specialized centers for testing and diagnosis can be costly; the following organizations help organize free travel for patients within the US.
Air Charity Network
4620 Haygood Road, Suite 1
Virginia Beach, VA 23455
Phone: 877-621-7177
E-mail: http://aircharitynetwork.org/contact-us/
Web site: http://aircharitynetwork.org/
National Patient Travel Center
Web site: http://www.patienttravel.org 

Where can I find out more about financial assistance? 
The National Organization for Rare Disorders (NORD) provides information on financial and medication assistance programs, health insurance, medicare/medicaid programs, and links to additional online resources. Most of these resources are available only to individuals in the United States.
The National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) has information about financial assistance resources for people who need help paying for medical care.
Last updated: 4/24/2019

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