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NIH Office of Rare Diseses Research -

Discussion in 'General ME/CFS News' started by muffin, Jun 15, 2010.

  1. muffin

    muffin Senior Member

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    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
     
  2. usedtobeperkytina

    usedtobeperkytina Senior Member

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    Clay, Alabama
    Wouldn't

    Wouldn't hurt. Ask some common sense questions. Every once in a while, someone may say, "You know, she is right."

    Tina
     
  3. glenp

    glenp "and this too shall pass"

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    WE DO

    Many of us have rare illnesses and complications because of this illness???? When I had proteus mirabis osteomyelitis of the skull bone they said I was the only known case of it in the skull ( usually it is in the bowell I think) and the messenteric cyst the size of an ice cream bucket was also rare, the surgeon told me he had no other cases to refer to it. Many of us have strange illnesses from this "illness"
     
  4. muffin

    muffin Senior Member

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    Glenp: Someone like you with the true rare issues/diseases AND CFIDS could sneak under the fence and get the NIH smart folks to really test the heck out of you. I see you are from Canada, but I know there must be a number of other CFIDS sick out there with their own rare issues/diseases that might take a shot.

    I have lots of weird, inexplicable (e.g, Atypical Crohn's, Idiopathic Narcoleptic-Like Sleep Disorder) issues that are part and parcel of CFIDS. Or that is what my internist believes and I have to agree. The thing is that many of us have these same inexplicable issues but are labled differently given what doctor they see, etc.

    As Tina said, "Wouldn't hurt" - I may take that shot. Why not? I think those 50 brilliant minds need to be involved in this mystery disease. It should be a fun and rather complex set of symptoms to try to piece together.
     
  5. justinreilly

    justinreilly Stop the IoM & P2P! Adopt CCC!

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    NYC (& RI)
    Muffin- This type of stuff annoys me too. Every time I see big scientific or medical resources poured into some useless or limited application situation or patient on House, in some tv doc or whereever it annoys the hell out of me when we can't even get a hello.
     
  6. citybug

    citybug Senior Member

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    There was a long NY Times magazine article about a woman visiting this department. They often can't come up with anything new but try to give some help. I wish that author would do an article about WPI. The new director of NIH (started a new thread) spoke about this program in his introductory statements.
     
  7. glenp

    glenp "and this too shall pass"

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    Muffin -- you mentioned you had "Idiopathic Narcoleptic-Like Sleep Disorder" geea soree what is that?? I until recently felt as though I had some kind of narcolepsy, (not diagnosed) but after falling asleep at the wheel I went on amphetamines.

    Years ago (not now) when I got small cuts I would get serious infections . One time I fell, got a scrape, it immediately started swelling so I went to the doctor and told him he said "this didnt just happen it takes a while for this" He didnt believe me.. ( He is not my current doctor)
    I think most of our wierd symptoms are dismissed, but has to be some common bug?? Weird dental probs are common in many of us too i think--My dentist went so far as to phone my gp about my dental probs. Some think there is a spirochette (sp) burrowing in the roots of our teeth. I think something is burrowing in my head!!

    glen

    glen
     
  8. zoe.a.m.

    zoe.a.m. Senior Member

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    Olympic Peninsula, Washington
    Muffin, thank you for posting this. I saw this article as well and literally got anxious as I began to read it as I thought I was about to come across the words "chronic fatigue syndrome," and yet it was somehow completely missing from the article altogether.

    When I read about her kidney failure, I figured that was what had gotten her the immediate attention, but it sounds like there were a few years of just a "flu" type illness and debilitating fatigue. I was shocked that she either did not receive this diagnosis or that someone chose not to print it.

    I've been stewing about this for days...
     
  9. muffin

    muffin Senior Member

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    My odd diagnoses of "Idiopathetic Narcoleptic-Like Sleep Disorder" meant that the neurologist did NOT KNOW what he was seeing. I get NO Delta Wave sleep at night - at all. But I do fall into heavy sleep during the day - with warning (so it is not a true narcolepsy) and I stay asleep (like the dead) for hours and not a minute or so (again, like a true narcolepsy). My internist said that the neurologist didn't have a clue so this is NOT a true diagnosis - it does not exist for real. Ditto the "Atypical Crohn's" that the very smart GI doctor gave me. I was the second oddest patient she had seen in her career. They took weeks to culture my biopsies since they knew something was very odd but the cultures came back negative. The Atypical Crohn's just means another "We don't know" diagnosis and not a true diagnosis. My odd symptoms are just part of CFIDS.

    Ten years after I got sick with CFIDS my husband came down with a virus and began showing almost all of the typical CFID symptoms. I took him to so many doctors as quickly as possible and every test done on him and the male internist finally decided he was "burned out" and that since he was 60 it seemed odd since he saw "burn out" in men in their 50's and not 60's. I found that an odd and not particularly smart statement. Mind you this came from my CFIDS internist and he treats men with CFIDS. I kept suggesting strongly that my husband had CFIDS, minus pain, but the rest of his symptoms were classic CFIDS. I have to believe that doctors, even the smart ones who do see/treat men with CFIDS, are still not inclined to diagnose men with CFIDS. It has now been six years since my husband got that virus and he is still on the couch day and night without body energy. His sleep is a mess even with all the meds. He can tolerate very little stress of any sort and this man could tolerate stress that would kill a normal human being, pre-virus. Minus the postives I have seen in him with the LENS Neurofeedback, he still presents as a classic CFIDS case. Rambling here and off topic.

    Back to the NIH Wonder Team: I do plan on emailing them and asking why they haven't bothered with CFIDS and how would I got about getting them to deal with me and my myriad of odd symptoms. Since we prob. can't get the whole CFIDS disease dealt with by this wonder team then we all, with our own weird symptoms, should contact these people and ask for help. If someone were to get in to these smart people their information would prob. be helpful to all the rest of the CFIDS sick. I just would NOT tell them that I had been diagnosed with CFIDS. Let those smart people figure out all the odd, broken things going on in my brain and body systems. Worth a shot. Also worth a shot for all others.
     
  10. glenp

    glenp "and this too shall pass"

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    Muffin please post when you hear back.

    I somehow think they are gonna take patients whom they feel they can figure out.

    We dont give them possitive feedback

    That burnout diagnosis is concerning. I think that there are many more of us out there undiagnosed or misdiagnosed.
    Maybe many that have a mild form. Its so frustrating Sooo many symptoms that i continue to hear of that never knew were common. Now whenever I see someone with that weird look in their eyes I wonder if they have it. The look that I had many years ago when some thought I was on drugs!!!

    Ty for the expanation on the narcolepsy. I have something to do with it but dont know what, its not narcolepsy.

    glen
     
  11. muffin

    muffin Senior Member

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    Google Narcolepsy and you come up with a bunch of stuff on it. You may well have narcolepsy in addition to CFIDS but you need to get to a neurologist and have a definitive diagnosis. I went into REM sleep within 11 minutes during the daytime part of my sleep study. But I sleep for hours and can not wake up until my brain says it is ready to be awake. If I have to wake up and get up but am still "asleep" I am basically "sleep walking" and that is super dangerous. I don't know what more to say on Narcolepsy except get to a neurologist and have a sleep study (night and next day) done. Provigil and all other stimulants only make me sleep more. The ADD med, Concerta, made me sleep for three days straight and my husband could not wake me up except to hear me say, "Leave me alone".
    I did have my brain mapped and the slow waves were very prominent during the day and the faster awake waves were very low, meaning I was not really awake for most of the day. Again, my internist blames CFIDS for all of my problems - well except my connective tissue disorder but he thinks that that also plays into CFIDS and FM and I would agree strongly with that assessment.

    Actually, my odd sleep thing may be a hook to get the NIH people to look at me. Maybe they can explain why I have a large black area in the midsection of my brain (viral signature) and another smaller black area in the left frontal lobe (the brainwave people won't even guess what that is).
     

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