I was reading an article in PEOPLE magazine (My heavy research reading for today) and read an article on a woman with failing kidneys. No doctor could figure out why they were failing so she got herself to NIH's Office of Rare Diseases Research and their 50 member team of doctors from all medical areas ("top-of-their-field") specialists. They did tons of tests, etc and figured out she had a protein in her body that wasn't working correctly and that was what was causing her kidneys to fail.
Ok fine. They take on only those cases that are considered "rare" -- "prevalence of fewer than 200,000 affected in the US". CFIDS has millions affected in the US and many more millions affected in the world so we don't fit RARE. We also have the rather worthless CDC working on CFIDS, so we are getting some sort of Federal investigation.
It sort of irritated me that there is a 50 member team of top notch doctors out there at NIH doing research that CFIDS sick would benefit from IF we had access to them. At a minimum, they might help push research forward on CFIDS/XMRV just a bit.
I know this is a bit far out given the fact that we are not RARE, but we are an extreme oddity to the medical community. THEY just can not figure out why we are so damn sick and disabled. Why can't this team of experts be brought in to do some research on us??? Why indeed?
Below is the site and some info on this NIH organization. I am most tempted to email them and ask them if they have or would look into CFIDS. I have a suspicion that they would want to stay far away from CFIDS for many reasons and just concentrate on the undiagnosed funky disease that someone might get - but it never hurts to ask. WHY can't they bring all those heavy-duty brains to bear on CFIDS???
Thoughts?
===================================================
http://rarediseases.info.nih.gov/Resources.aspx?PageID=31
Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:
To provide answers to patients with mysterious conditions that have long eluded diagnosis
To advance medical knowledge about rare and common diseases
The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes will contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who may participate in the program's clinical research.
Any longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program’s medical team.
For more information please call (866) 444-8806 (Director is: Dr. William Gahl)
Please do not send Undiagnosed Diseases Program-related email or submit medical records to the NIH Office of Rare Diseases. All communication should be handled through the Undiagnosed Diseases Program staff at the NIH Clinical Center.
The Undiagnosed Diseases Program at the National Institutes of Health
The National Human Genome Research Institute
The NIH Office of Rare Diseases Research
The NIH Clinical Center
Frequently Asked Questions
What is the programs purpose?
This trans-NIH program has two main goals:
To provide answers to patients with mysterious conditions that have long eluded diagnosis and
To advance medical knowledge about rare and common diseases.
How will the program define an undiagnosed disease?
Any medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this pilot study. Some patients wait years for a definitive diagnosis. For this study, only a fraction of cases referred will be invited to proceed in the study at the discretion of the programs medical team.
What is a rare disease?
A rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.
How will the program work?
If you are interested in participating in this clinical research program, discuss the option with your primary physician or health-care provider (nurse practitioner or physicians assistant).
Information specialists at the Clinical Centers Patient Recruitment Call Center (1-866-444-8806) can provide more information about eligibility and what kinds of medical information referring physicians must submit for review by the programs medical team. You or your health-care provider can call.
Patients must be referred by a physician or health-care provider. Information your physician must provide directly to NIH includes:
A summary letter describing your condition, when it was first noted and your current health status
A list of treatments and medications that have already been tried and their effects
Copies of reports and results of pertinent diagnostic tests, along with X-rays, MRI results, and other imaging records/studies. Copies of the actual imaging studies are preferred.
Ask for and keep a copy of these materials for yourself. Because of patient confidentiality considerations, no email submissions will be accepted. Your referring physician must mail the summary letter and related materials to: National Human Genome Research Institute, National Institutes of Health, Undiagnosed Diseases Program, 10 Center Drive - MSC 1851, Building 10, Room 10C103, Bethesda, Maryland 20892-1851
Undiagnosed Diseases Program staff will notify you by mail when the information from your physician has been received.
The programs medical team will review the information submitted for each case. Cases meeting the criteria will be presented to the Undiagnosed Diseases Programs board of specialists for further consideration. Plans call for inviting 50 to 100 patient participants to the NIH annually for a thorough evaluation and consultation.
If your case is accepted for NIH evaluation, NIH will provide information from the evaluation to you and to your health-care provider, who will be responsible for your medical care after you leave the NIH. In this manner, follow-up care will be assured.
Will all cases submitted be reviewed by the Undiagnosed Disease Program?
Yes, the programs medical team will review the cases submitted for consideration. Cases meeting Program criteria will be presented to the board of specialists. Fifty to 100 cases will be invited to NIH for thorough evaluation and consultation each year.
Whats involved for patients accepted by NIH for participation?
Patients in the program will be evaluated using the unique combination of scientific and medical expertise and resources at the NIH Clinical Center in Bethesda, Maryland. Dozens of NIHs senior attending physicians will consult on the cases and evaluations. Their specialties include rheumatology, immunology, oncology, mental health, nephrology, hematology, ophthalmology, neurology, laboratory medicine, pain and palliative care, bone disorders, endocrinology, oncology, immunology, dermatology, primary immunodeficiency, dentistry, genetics, pathology, pulmonology, cardiology, primary immunodeficiency, internal medicine, pediatrics and hepatology.
The referring provider and patient will receive the information resulting from NIHs evaluation as a part of this program. Long term care will not be provided by the NIH, but selected patients may be eligible for an ongoing research study.
Will all evaluations result in a diagnosis?
No, but the evaluations will yield valuable information medical researchers will use to:
Help identify previously unrecognized rare diseases
Suggest new ways to treat and prevent common illnesses, and
Determine promising options for continued medical research
How can I find out more about participating?
Call 1-866-444-8806.
Information specialists with the Clinical Center Patient Recruitment Call Center will ask you a few questions to begin to determine your eligibility to participate. A physicians referral is required.
Who is eligible?
Generally, physicians may refer individuals who:
Are at least six months old.
Have a disease or condition that remains undiagnosed despite ongoing care and follow up by a physician or other health-care provider.
Are able to travel.
Will participants also have DNA taken and studied as part of this program?
Yes, the hope is that DNA will be one way that helps the NIH medical team determine a patients illness. Patients will be informed of how the DNA will be used.
What is the cost for participating if accepted?
There is no charge for participating in this research program at the Clinical Center. Travel, meals and lodging expenses may be covered for research participants according to NIH policies.
I dont have a physician and I dont have health insurance. What are my options for participating in this research program?
A referral from a primary health-care provider is required. If you dont have a personal physician, but receive care in a clinic or other health-care setting, discuss referral with a member of the medical team currently providing your care. This could be a nurse practitioner or physicians assistant.
Why is a physicians referral required?
Consultation with the patients primary health-care provider will be important throughout the process. Follow-up care will be addressed as part of the evaluation at NIH. If your case is accepted for NIH evaluation, NIH will provide information from the evaluation to you and to your health-care provider, who will be responsible for your follow-up medical care.
Why isnt NIH providing the follow-up care?
Long-term follow up care at the NIH is not part of this program. The NIH Clinical Center is a research hospital and its mission is to perform clinical research to advance the overall health of the nation.
How will I find out NIHs decision on accepting my case for evaluation as part of this research program?
The decision will be communicated in writing to you and to the primary health-care provider who sent your summary letter and other medical records. Once all materials have been received, NIH review is expected to take about six to eight weeks.
If my case is accepted for evaluation at NIH, what happens next?
You may be asked to provide copies of additional medical records and to travel to the NIH Clinical Center in Bethesda, Maryland, for comprehensive medical evaluations. This will be a 2-5 day visit for inpatient and/or outpatient care. Travel, meals and lodging expenses may be covered for research participants according to NIH policies.
Program Information
Frequently Asked Questions (FAQ)
Information for patients (PDF - 90 KB)
Information for health-care providers (PDF - 93 KB)
News
Press Release (PDF - 51KB)
Place for Hope
Audio recording media telebriefing (MP3 - 10,799 KB)
Audio recording patient advocacy teleconference (MP3 - 18,905 KB)
Transcript: Undiagnosed Diseases Program Media Tele-Briefing (PDF - 79 KB)
NY Times Magazine describes the experiences of a UDP patient
Patient Support
In Need of Diagnosis, Inc. (INoD)
Syndromes Without A Name- USA (SWAN-USA)
Last Review Date: September 26, 2008
Ok fine. They take on only those cases that are considered "rare" -- "prevalence of fewer than 200,000 affected in the US". CFIDS has millions affected in the US and many more millions affected in the world so we don't fit RARE. We also have the rather worthless CDC working on CFIDS, so we are getting some sort of Federal investigation.
It sort of irritated me that there is a 50 member team of top notch doctors out there at NIH doing research that CFIDS sick would benefit from IF we had access to them. At a minimum, they might help push research forward on CFIDS/XMRV just a bit.
I know this is a bit far out given the fact that we are not RARE, but we are an extreme oddity to the medical community. THEY just can not figure out why we are so damn sick and disabled. Why can't this team of experts be brought in to do some research on us??? Why indeed?
Below is the site and some info on this NIH organization. I am most tempted to email them and ask them if they have or would look into CFIDS. I have a suspicion that they would want to stay far away from CFIDS for many reasons and just concentrate on the undiagnosed funky disease that someone might get - but it never hurts to ask. WHY can't they bring all those heavy-duty brains to bear on CFIDS???
Thoughts?
===================================================
http://rarediseases.info.nih.gov/Resources.aspx?PageID=31
Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:
To provide answers to patients with mysterious conditions that have long eluded diagnosis
To advance medical knowledge about rare and common diseases
The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes will contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who may participate in the program's clinical research.
Any longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program’s medical team.
For more information please call (866) 444-8806 (Director is: Dr. William Gahl)
Please do not send Undiagnosed Diseases Program-related email or submit medical records to the NIH Office of Rare Diseases. All communication should be handled through the Undiagnosed Diseases Program staff at the NIH Clinical Center.
The Undiagnosed Diseases Program at the National Institutes of Health
The National Human Genome Research Institute
The NIH Office of Rare Diseases Research
The NIH Clinical Center
Frequently Asked Questions
What is the programs purpose?
This trans-NIH program has two main goals:
To provide answers to patients with mysterious conditions that have long eluded diagnosis and
To advance medical knowledge about rare and common diseases.
How will the program define an undiagnosed disease?
Any medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this pilot study. Some patients wait years for a definitive diagnosis. For this study, only a fraction of cases referred will be invited to proceed in the study at the discretion of the programs medical team.
What is a rare disease?
A rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.
How will the program work?
If you are interested in participating in this clinical research program, discuss the option with your primary physician or health-care provider (nurse practitioner or physicians assistant).
Information specialists at the Clinical Centers Patient Recruitment Call Center (1-866-444-8806) can provide more information about eligibility and what kinds of medical information referring physicians must submit for review by the programs medical team. You or your health-care provider can call.
Patients must be referred by a physician or health-care provider. Information your physician must provide directly to NIH includes:
A summary letter describing your condition, when it was first noted and your current health status
A list of treatments and medications that have already been tried and their effects
Copies of reports and results of pertinent diagnostic tests, along with X-rays, MRI results, and other imaging records/studies. Copies of the actual imaging studies are preferred.
Ask for and keep a copy of these materials for yourself. Because of patient confidentiality considerations, no email submissions will be accepted. Your referring physician must mail the summary letter and related materials to: National Human Genome Research Institute, National Institutes of Health, Undiagnosed Diseases Program, 10 Center Drive - MSC 1851, Building 10, Room 10C103, Bethesda, Maryland 20892-1851
Undiagnosed Diseases Program staff will notify you by mail when the information from your physician has been received.
The programs medical team will review the information submitted for each case. Cases meeting the criteria will be presented to the Undiagnosed Diseases Programs board of specialists for further consideration. Plans call for inviting 50 to 100 patient participants to the NIH annually for a thorough evaluation and consultation.
If your case is accepted for NIH evaluation, NIH will provide information from the evaluation to you and to your health-care provider, who will be responsible for your medical care after you leave the NIH. In this manner, follow-up care will be assured.
Will all cases submitted be reviewed by the Undiagnosed Disease Program?
Yes, the programs medical team will review the cases submitted for consideration. Cases meeting Program criteria will be presented to the board of specialists. Fifty to 100 cases will be invited to NIH for thorough evaluation and consultation each year.
Whats involved for patients accepted by NIH for participation?
Patients in the program will be evaluated using the unique combination of scientific and medical expertise and resources at the NIH Clinical Center in Bethesda, Maryland. Dozens of NIHs senior attending physicians will consult on the cases and evaluations. Their specialties include rheumatology, immunology, oncology, mental health, nephrology, hematology, ophthalmology, neurology, laboratory medicine, pain and palliative care, bone disorders, endocrinology, oncology, immunology, dermatology, primary immunodeficiency, dentistry, genetics, pathology, pulmonology, cardiology, primary immunodeficiency, internal medicine, pediatrics and hepatology.
The referring provider and patient will receive the information resulting from NIHs evaluation as a part of this program. Long term care will not be provided by the NIH, but selected patients may be eligible for an ongoing research study.
Will all evaluations result in a diagnosis?
No, but the evaluations will yield valuable information medical researchers will use to:
Help identify previously unrecognized rare diseases
Suggest new ways to treat and prevent common illnesses, and
Determine promising options for continued medical research
How can I find out more about participating?
Call 1-866-444-8806.
Information specialists with the Clinical Center Patient Recruitment Call Center will ask you a few questions to begin to determine your eligibility to participate. A physicians referral is required.
Who is eligible?
Generally, physicians may refer individuals who:
Are at least six months old.
Have a disease or condition that remains undiagnosed despite ongoing care and follow up by a physician or other health-care provider.
Are able to travel.
Will participants also have DNA taken and studied as part of this program?
Yes, the hope is that DNA will be one way that helps the NIH medical team determine a patients illness. Patients will be informed of how the DNA will be used.
What is the cost for participating if accepted?
There is no charge for participating in this research program at the Clinical Center. Travel, meals and lodging expenses may be covered for research participants according to NIH policies.
I dont have a physician and I dont have health insurance. What are my options for participating in this research program?
A referral from a primary health-care provider is required. If you dont have a personal physician, but receive care in a clinic or other health-care setting, discuss referral with a member of the medical team currently providing your care. This could be a nurse practitioner or physicians assistant.
Why is a physicians referral required?
Consultation with the patients primary health-care provider will be important throughout the process. Follow-up care will be addressed as part of the evaluation at NIH. If your case is accepted for NIH evaluation, NIH will provide information from the evaluation to you and to your health-care provider, who will be responsible for your follow-up medical care.
Why isnt NIH providing the follow-up care?
Long-term follow up care at the NIH is not part of this program. The NIH Clinical Center is a research hospital and its mission is to perform clinical research to advance the overall health of the nation.
How will I find out NIHs decision on accepting my case for evaluation as part of this research program?
The decision will be communicated in writing to you and to the primary health-care provider who sent your summary letter and other medical records. Once all materials have been received, NIH review is expected to take about six to eight weeks.
If my case is accepted for evaluation at NIH, what happens next?
You may be asked to provide copies of additional medical records and to travel to the NIH Clinical Center in Bethesda, Maryland, for comprehensive medical evaluations. This will be a 2-5 day visit for inpatient and/or outpatient care. Travel, meals and lodging expenses may be covered for research participants according to NIH policies.
Program Information
Frequently Asked Questions (FAQ)
Information for patients (PDF - 90 KB)
Information for health-care providers (PDF - 93 KB)
News
Press Release (PDF - 51KB)
Place for Hope
Audio recording media telebriefing (MP3 - 10,799 KB)
Audio recording patient advocacy teleconference (MP3 - 18,905 KB)
Transcript: Undiagnosed Diseases Program Media Tele-Briefing (PDF - 79 KB)
NY Times Magazine describes the experiences of a UDP patient
Patient Support
In Need of Diagnosis, Inc. (INoD)
Syndromes Without A Name- USA (SWAN-USA)
Last Review Date: September 26, 2008
