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?
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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?
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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:
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. Physicians and patients with additional questions may call
1-866-444-8806.
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 disease or eye disease) 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
"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 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? 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.
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 Research (ORDR), part of the National
Institutes of Health.
Are there any advocacy groups for people with an undiagnosed condition?
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Yes. See below for additional information and supportive resources for
individuals with an undiagnosed condition and their families.
In Need of Diagnosis (INOD) provides help and support to individuals with
undiagnosed conditions.
In Need of Diagnosis (INOD)
P.O .Box 536456
Orlando, FL 32853-6456
Toll-free: 888-894-9190
Telephone: 407-894-9190
Fax: 407-898-4234
E-mail: help@INOD.org
Web site: http://www.INOD.org
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
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?
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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 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.