Tips for those with an Undiagnosed Condition
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 navigate through the process of trying to obtain a diagnosis.
Where can I find out more about how to cope with an undiagnosed condition?
Are there research programs available for people without a diagnosis?
How can I learn more about clinical trials?
Are there any advocacy groups for people with an undiagnosed condition?
Who should I talk to if I have financial concerns?
Are there organizations that can help with the cost of travel?
Where can I find out more about financial assistance?
Where can I find out more about how to cope with an undiagnosed condition? Back to Top
To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see:
Are there research programs available for people without a diagnosis? Back to Top
Yes. If an individual’s health care providers and specialists have not been able to make a definitive 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:
- In May 2008, the NIH launched the Undiagnosed Diseases Program, a clinical research program that aims to provide answers to patients with mysterious conditions that have long eluded diagnosis. This trans-NIH initiative focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland, by physicians across the nation.
For more information about the Undiagnosed Diseases Program, go to: http://rarediseases.info.nih.gov/Undiagnosed. Physicians and patients with additional questions may call the NIH Clinical Center clinical information research line, at 1-866-444-8806.
- The National Library of Medicine at the NIH has developed ClinicalTrials.gov, a database accessible to the public through the Web. This database provides patients, family members and members of the public with current information on clinical research studies. You can search ClinicalTrials.gov for research studies looking at general categories of diseases and accepting individuals with out a diagnosis with the research goal of making a diagnosis.
For example, one study that is enrolling individuals who do not have a diagnosis is entitled "Studies of Children 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 with a suspected genetic disease may be eligible for this study. To read more about this study, go to: http://clinicaltrials.gov/show/NCT00025870
To search ClinicalTrials.gov for other research studies looking at general categories of diseases, type the disease category in the search box (i.e. neurological disease or eye disease).
If you find a clinical trial on this Web site that takes place at the National Institutes of Health, or if you want to know if there might be a clinical trial that fits your or your loved one’s needs, 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? Back to Top
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.
A tutorial about clinical trials that can also help answer your questions can be found at the National Library of Medicine.
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 on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
Are there any advocacy groups for people with an undiagnosed condition? Back to Top
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: swanusa@undiagnosed-usa.org
Web site: http://www.undiagnosed-usa.org
MUMS National Parent-to-Parent Network puts parents of children with various conditions in touch with other parents of children with the same condition. You can contact MUMS to be matched with a family whose child's symptoms are similar to your child’s.
MUMS National Parent-to-Parent Network
150 Custer Ct
Green Bay, WI 54301
Toll free: 877-336-5333
Telephone: 920-336-5333
Fax: 920-339-0995
E-mail: mums@netnet.net
Web site: http://www.netnet.net/mums/
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/
The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals.
Who should I talk to if I have financial concerns? Back to Top
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
700 Thimble Shoals Boulevard
Suite 200
Newport News, VA 23606
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? Back to Top
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
Online e-mail form: http://aircharitynetwork.org/ContactUs/tabid/201/Default.aspx
Web site: http://aircharitynetwork.org/
National Patient Travel Center
4620 Haygood Rd, Ste. 1
Virginia Beach, VA 23455
Toll-free: 800-296-1217
Phone: 757-512-5287
Fax: 800-550-1767
E-mail: mercymedical@erols.com
Web site: http://www.patienttravel.org
Where can I find out more about financial assistance? Back to Top
The National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) has created an online financial assistance resource with further information about resources for individuals and families in need of help paying for medical care. To access this information, click here.