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 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:
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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.
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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 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: Meg@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
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?
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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
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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.