Another potential benefit to patients, even those whose diseases have no cure or treatment, is that a diagnosis gives them a better shot at getting disability status and therefore eligibility for workplace accommodations or disability payments.
So many unfortunate souls, especially undiagnosed people with invisible symptoms like chronic pain, just suffer without help or much compassion until they get so tired they give up and slide into depression and destitution. It's an utter waste of the significant human potential that many sick people still possess.
88
House would have liked this article. Medical sleuthing at its best.
26
My daughter, Joanne Lynn Lloyd was admitted to NIH in Bethesda, Maryland in July, 2015 with an undiagnosed disease which prohibited her from producing blood/platelets from her bone marrow... meds used for other things helped her to produce enough blood to sustain her life till another rare disease (PML) entered her brain in 2018, which the Drs at NIH think was caused by the very drugs used to prolong her life... Joanne sucomed to her illness this Dec 21st at NIH. It would give me great satisfaction if her story were published here. Thank you...
62
@ Sara Silva, there are comments about symptoms like yours in the medical medium, Anthony Williams, Facebook page, I think you should check it out, he calls them “mystery illness”, hope this helps you and sending you healing vibes your way!
6
It's good that places like this exist.
One of the biggest difficulties when you're ill is that you see one doctor for one thing and one for another and there is little coordination between them. If you have something that is complicated, where there is a syndrome of symptoms from multiple body systems, a single specialist can miss it. Your family doctor isn't necessarily an expert, but is supposed to coordinate care. What you need a a team of experts.
This is why it took forever for something like Fibromyalgia to get traction: it's affects the whole person. Our medical world is not set up to treat the whole human as a whole, but rather as different systems. Each specialist sees only their piece of the puzzle, but the whole picture is the overall disease. It's like the six blind men and the elephant.
56
I have to wonder about the diagnosis and treatment rate for patients with mental disorders. I gather from these few examples that a condition has to develop, and that there are periods of normalcy between instances, or prior to their start. I don't believe many mental problems occur this way. If we could find a genetic basis for some mental disorders, this could dramatically affect not just treatment today, but research and investigation in the future regarding mental illness. Worth a shot.
16
If only all doctors did this. I don’t mean for every patient, that would be cost prohibitive. But I mean for those patients where they have thrown drugs at them and throw them drugs at them and throw them drugs at them and then just decided to blame the patient and give up. Doctors could perhaps try a little investigation for those patients. It’s not like doctors don’t have the ability to run the tests that are needed. They just lack the interest in doing so. Throwing drugs at us is so much easier and more profitable. I am 53. Less than 10 years ago I was strong and healthy and working. Now I don’t expect to live to see 60. No one has anyway idea why. Because drugs control SOME of the symptoms, they are satisfied that their medical duty is done.
40
@Kimberly
What r your symptoms. I took 2 years to be diagnosed with Schnitzlers syndrome. Got to the Cleveland clinic.
I understand how debilitating and disheartening it can be. Don’t give up
24
Very interesting site and needed. As a 30 vet of the PA field we have all seen patients that were just not diagnosable. In fact my brother has a rare problem called "Whipples disease" wont go into detail, but it took years to diagnose. His symptoms are similar to woman in first case had weak spells, mental changes, GI problems. Progressively getting worse. Then he would snap out of the "spell" as I called them. He now takes a daily antibiotic which helps but spell still persist every few months. Would hope a cure would become available. Thanks for your site and pt. info.
19
Great article! In addition to the praise that the existence of this network already deserves, it illustrates how important a physician's honest dose of self-doubt and acknowledgement of one's limit is for their patient's health and safety. Physicians are often expected to "know it all" when that it simply impossible. Over many years, I have come to appreciate how important the words "I don't know" or "I want to make sure and refer you to a specialist" are. As long as my impression is that they generally know what they are doing, that indicates to me that she or he has my best interest at heart. A physician who knows it all and always is potentially dangerous and it's time to change physicians.
Unfortunately for us as patients, insurance plans make our primary care physicians now often act as gatekeepers, and penalize them if they refer patients more often than others. That can make it much harder for a primary care physician to consult more specialized colleagues when appropriate.
35
Think of how many more medical mysteries could be solved with the money Trump wants for the wall.
70
@Icy Not to mention the mental health needs of people.
19
I have been a practicing physician for 15 years. It takes humility to say “You have a real problem, and despite my best efforts I don’t know what’s causing it. I’m sorry I don’t have a better answer. I’m not going to stop trying to help you. What’s our next step?” A few of my patients want me to be infallible; more of them want me to be expert at navigating “the system” of consultants and possible answers and false passages, and most of all to be a faithful and caring companion, and a believer both in the reality of their suffering and the possibility of its relief.
100
@Ace J
As a nurse, I am grateful for physicians like you. Too many times I have seen pts with no obvious medical diagnosis, so they are either written off as psychosomatic or if symptoms are intermittent and resolve while in hospital, they are discharged to home as having resolution. Working in medical psych, I could tell you many stories of gross misdiagnosis, but as you have been in practice for 15yrs, I’m sure you’ve seen it too. Thank you for your service. You do make a difference.
63
@Ace J ...One problem is insurance will not pay for the extensive testing that is required to dx some of these problems. A research center to order any test they please, but the average practitioner is very limited. Pt's dont understand this and get mad when you cant order what they want.
21
I bought three full genome tests. Given my age, previous gene tests, and family history I don't think I'm going to learn a lot more but it will give me something to experiment with (in a database searching sense).
If a person isn't getting a diagnosis through conventional means then a full genome search might give a clue.
10
I have always said:
God Bless the researchers!
****A Connecticut physician
43
@Michael Richter
As long as they are independently funded (not employed by pharma)
35
It's a very nice article, with good information; thank you. I would suggest that such articles be proofread by a physician in the appropriate area of medical specialty; this would avoid mistakes like indicating that meningitis is inflammation of the brain, rather than inflammation in the meninges, smack up against the brain or spinal cord (to use a non-medical term). Inflammation of the brain is encephalitis; of the cord, myelitis.
That said, I do appreciate this article greatly.
36
@Joe
You are correct, but I don’t think the majority of people would understand, so perhaps it was written that way so people have a general sense of the problem. That was a pretty cool case though.
12
I have some sort of disease or disorder that is probably neurological. I have a fantastic neurologist who has tried everything he can think of, and has sent me to different sub-specialists. He has told me he is stumped, but he hasn't given up.
I'm very lucky to be believed by my doctor and my family, which has alleviated my concerns on that score. I am insured through Kaiser (aka socialized medicine) and have no fears of medical bankruptcy. And I have a desk job, so I can continue to work.
At some point, I hope to apply to the UDN.
25
So happy for Mr. Stanacev! Hoping that genetic testing will lead to miracle cures like this for many more.
14
I believe that eventually the diagnosis of rare, and even common diseases, due to the complexity of the human body and genome, must be relegated to super computers using artificial intelligence and complex simulation techniques. A computer model simulation of the entire human body, down to the cellular and even the molecular level can be populated with an individual's unique data and arrive at a diagnosis where humans fail to do so due to the great complexities and interactions involved. This has already happened in other complex domains such as weather prediction, where meteorologists would be lost without the aid of super computer models.
17
When looking for a genetic cause, it's important to keep in mind just how large and complex the human genome is (three billion nucleotides if I recall correctly). It can contain hundreds of tiny mutations that have no effect and a single tiny mutation can be deadly. As the article nicely points out, the mutations can even be outside of genes, affecting when/where they are turned on and off. The mutations can even occur in the DNA of organelles within the cell like mitochondria.
When you consider that a new ailment may result from one or two bases changes in 3 billion it's quite amazing that it is found at all and it's quite understandable when it is is not found at all.
27
I was instantly drawn to this article, not like some bystander eager to see what happened, but because of personal suffering from “silent diseases”. Sympathy, empathy, compassion and understanding are given in abundance to someone who has broken a bone, faced heart surgery, or suffered through devasting recognizably physical issues. However, those of us who suffer from debatable diseases like Fibromyalgia, Idiopathic Hypersomolence/Major Somolence Disorder, Sjogren’s Syndrome, and many others such issues are more often dismissed by our physicians. And if a person who suffers from a one of these “silent disorders” is obese, most doctors take the easy route and tell the patient to lose weight and their troubles will be gone. I know, I’m obese and it has taken years to find doctors who see that obesity is only one of my medical needs, not the source of all my medical problems. Thankfully many of these “silent diseases” are now being recognized and the sufferer is more often being seen as a person with real pain.
This article filled me with hope because of the dedicated doctors willing to do whatever can be done to help those who have symptoms that are beyond the norm. Thank you for publishing this article.
58
Many Lupus patients suffer for years before they are properly diagnosed and suffer throughout their diagnostic journey. Most Lupus patients (90%) are women and are told by multiple medical personnel it's all in their head.
69
@Mary Ann
Yes, Mary Ann! I try to see female physicians, for this reason. Postmenopausal woman especially are consistently pushed aside and characterized as constant "whiners".
26
In Sara Silva’s case, burning feet and hands, has Fabry’s Disease been ruled out?
18
@Andreas Athanasiou, MD
Reaction to breast implants ever show up? Resolved my heath issues once mine were removed, took a while though.
5
Dr. House would have diagnosed them all within the 48 minute time slot.
19
@bill d — as hypochondriacs. There’s more than enough of that diagnosis to go around.
4
I suspect that a definitive diagnosis, even if there is no known treatment, is much better than being told that you're nuts.
65
My husband was evaluated by the UDN about a year ago. His symptoms have previously puzzled doctors at Johns Hopkins and the Mayo Clinic. He's been subjected to a number of debilitating symptoms for 6 years.
The doctors and nurses at UDN were wonderful. But they put a big focus on genetics which didn't show anything interesting for my husband. However, as has been mentioned, there's a lot we don't know about the human body. He didn't receive a diagnosis. UDN says that they don't close cases until a diagnosis is determined.
Please realize that the UDN's statistics show that many patients do not get a diagnosis but that may be due to UDN selecting the most challenging patients.
39
One time I suffered from balance problems when driving. Multiple doctors could not diagnose the problem. After several months I returned to normal without any treatment. The human body, the most complex machine on earth, can be truly puzzling.
19
Why the concentration on finding a solution from conventional MDs?
Given the symptoms described, and the failures of conventional medicine to help these people (yes I realize there's a success in there too), I can think of all sorts of other things worth trying that just get no mention here.
6
I was a fellow at the Undiagnosed Diseases Program in Bethesda for 2 years, just as it was expanding into the UDN. It's great to see the group get more recognition. Dr. Gahl and Dr. Adams (and all the rest) are great people who are doing cutting-edge work.
71
I’m happy that UDN exists now, but they should try and help everyone with undiagnosed illnesses. I could have used their help when I became sick and 4 years of specialists, hundreds of tests, scans, MRI, and bad attitudes, and lousy bedside manners by doctors, sent me to the brink of madness.
Every doctor who couldn’t diagnose my illness, told me it was all in my head. Ironically, I was seeing a therapist during the whole episode, he was the only one who believed me and didn’t give up on me. It began with 48 hours of undesirable headache , and lookin like a stroke victim when it was over. The pain returned, and when no one could help me, I let a neurosurgeon who thought I had trigeminal neuralgia, perform 2 brain surgeries on me in a period of 3 months. I came out with the persisting pain, more and defined deformity of my face, burning pain and lack of taste in the left side of my tongue, no tears and saliva. To sum it all, they have ruined my life, made it impossible for me to enjoy many simple pleasures of life, sentenced me a a lifetime of pain, not to mention what my family have endured all these years. Why can’t they say. I believe there is something PHYSICALLY wrong with you, but I don’t know what it is, instead of saying it all in your head, and you need psychological treatment?
71
@BB OMG BBI'm SO sorry to hear this! I have fibromyalgia (i think) and the past ten years have seen the pleasures slowly dripping away (proper exercise, many foods, alcohol, socializing for longer than about an hour etc etc)
But it just seems so cruel that your actual treatment made things even worse. I hope you an regain some of those simple pleasures.
I am in pain every single day and there are days where I can't even face the nice doctors cos I know they won't have anything for me. It's so depressing. I wish I could give you a hug.
23
I had spent years in pain. describing my complaint to a slew of medial doctors and even an emergency room visit. Though only to be sent home with the suggestion I see a psychotherapist on multiple occasions. I knew the problem was physiological. I knew it.
THEN someone suggested I go to an alternative therapist called a cranio-sacral therapist. Within two sessions she had diagnosed my ailment. She told me how to get it diagnosed by the mainstream medical community. So I went to the appropriate style doctor, had tests and indeed this person who is not accepted in the mainstream medical community was absolutely correct. Since then I have taken each step this cranio-sacral therapist suggested and I am on the way to a full recovery.
My suggestion: see alternative specialists. If I was still operating within the mainstream medical community, I would still be suffering immensely.
46
What was the diagnosis if I may ask?
30
We live in a VERY COMPLEX world especially so with regard to our bodies and health. These NIH centers are truly wonderful ways to spend our tax dollars. I would gladly see my tax dollars invested in such activities. During many years working at a research institution I saw, first hand, how NIH support contributed to medical progress (e.g. the world’s first implantable cardiac pacemaker). I would glad pay more tax to expand efforts described in the article. How about another idea: move funds from the military budget to the healthcare budgets, then we may not even have to raise taxes?
104
Clinical diagnosis is indeed a dying art due to, among other factors, a systemic emphasis on technology over close attention to the patient; the assembly-line pace of medicine; overly narrow specialization; and the relegation of the internist to a gatekeeping role. While the UDN is a laudable effort, it accepts very few patients and has a mandate to focus on discovering genetic diseases, largely neglecting those with (non-genetic) autoimmune or idiopathic problems. Here is one alternative for people who don't fit the UDN mold: www.focusdiagnosticmedicine.com .
49
@Andrew - Thank you, that's important information for a better understanding of the article. The most amazing medical skill I have ever seen practiced is that of the diagnostician. The best of them may not find a diagnosis but when they cannot, you can be pretty confident no one else can until a new etiology is revealed.
23
@Andrew The narrow specialization is very frustrating. My orthopedic doctor referred me to a spine specialist, shoulder specialist, and hand specialist. I'm hoping my knees hold out through all the running around.
27
@Emliza
Too funny!
5
This article perpetuates several unfortunate myths.
First of all, psychosomatic, i.e., the mind and the body, does not mean that the problem is totally psychological.
Second, mental disorders are as "real" as physical ones and can cause the same symptoms.
Third, for many patients there are no underlying explanations for symptoms although if they keep having enough testing, something will inevitably be found which is unlikely to have anything to do with their symptoms. I wonder how many of your readers know that there is no correlation between the presence or severity of low back pain and the results of MRIs.
Finally, the authors might at least have noted that many mental disorders are misdiagnosed as physical ones and patients go through many worthless tests and treatments before this is discovered. For example, many people with chest pain secondary to anxiety disorders go through endless cardiac testing before anyone even considers the proper diagnosis.
9
@Steve. Boy, I really missed something. I don't see how this article perpetuates those myths at all. It seems to me that it does just the opposite.
40
Anyone with a rare illness can tell you that this should be the standard of care. I went decades, and suffered tragic and costly mental and physical destruction, over insurance denials, doctors' failure to continue their education, read journals, consider that other countries are way ahead, think outside of their narrow boxes, look at ALL film, blood, signs and symptoms together, and most of all their failure to listen!
I was presenting a textbook case but like many with rare diseases, got tossed into the headcase bin.
Then, a terribly bothched surgery by an arrogant, unsupervised, resident that I specifically asked the attending not to let do my surgery, along with the delay, sealed the deal creating a need for 7 more surgeries that bankrupted me and left me disabled and on many expensive medications.
This American standard, plus all the early insurance denials for testing, specialists and MRI cost my family, and the country, more than this NIH protocol and early diagnosis/treatment by an experienced surgeon, ever would have cost.
Are we getting it yet?
81
Congrats to Mr. Mr. Stanacev! I'm very happy for him.
As for most of the rest of us, we'll just have to hope that whatever we come down with is so blatantly obvious that the average doctor recognizes it. We've come a long way since leaching and bleeding (though leeches are making a comeback, I hear), but future generations, should there be any, will look back on our pitiful state of medical knowledge (ignorance) with pity for us.
10
@Sixofone
Bleeding's actually the proper treatment for hemochromatosis.
7
It is great to read about this. Years ago my mother began losing weight. Without a single test, without even touching her, the doctor, a reputable internist, said it was cancer and there was little he could do but find it. The tests began and she soon was weak to the point of needing hospitalization. After each test he would say he hadn't found it -- yet -- but he would. To him it was a challenge, to us, devastation. But soon, with tube feeding, she was getting stronger and we knew he was wrong. After 8 weeks of being in the hospital it turned out to be TB, discovered through a hail Mary lung biopsy. It was from an exposure so old (Depression era) that it had burrowed between the lung and the lining, making the sputum test read negative for TB. She lived for nearly 20 years more, I'm happy to say. And whenever that damn first doctor (we no longer went to him, obviously) saw her in town, he would always say it was "a miracle." A lazy esophagus developed a yeast infection which made eating difficult, sparked the weight loss and that weakened state eventually allowed the ancient TB exposure to come to life. This case was written up for some medical journal at the time.
111
@Andy
Some doctors are determined to find nails for their hammers and will hammer away anyway until they're found. I have a muscle condition that's undiagnosed, and while I was in high school, a rheumatoid arthritis doctor insisted it was RA and prescribed nasty medications. All other doctors, from MDA and various hospitals, verified there was no RA, but he insisted it was in remission. Because of this and other malpractices, I'm very careful with diagnoses that sound questionable.
23
@Andy while you might castigate the doctor for the "misdiagnosis" the fault is not entirely theirs since he works in a country whose epidemiology has almost eradicate tuberculosis. He would much rather or find it much easier to pick a diagnosis of cancer that presents exactly the same way than tuberculosis that he probably as never even seen apart from a small read while in medical school. If your mother were in my home country, Kenya, the TB would have been suspected, diagnosed and treated much earlier because we have a disease prevalence of around 500 per 100,000 people. I understand the frustration but I think there is a lot of misunderstanding on the diagnostic process, maybe too much expectation or media influence? I don't know.
34
More legit than the browser based discovery, better by far than the orphan illness groups eager to gather in more “victims” of their rare disease, no matter if it’s true.
4
@JEH all depends where you point your browser. You can surf to Wellness Mama or to PubMed...
9
I spent two and a half years going back and forth to different doctors trying to find out what was wrong and was also told it was all in my head that I had serious mental issues. Except for the fact that I could not use my left arm, I had gained 60 lbs in 3 months, I could hardly walk because my muscles would seize up, I was very cloudy thinking, and got to the part that I would be so exhausted after 2 hours of being up that I would have to sleep for 12 hours to get my energy back for another two. I changed my family doctor and it took him a year-and-a-half but he never gave up. He did find it and this happened in 2004. I have a genetic disease called hemochromatosis and there's a lot of issues involving the rest of the family everything. I've lost one sister to this disease and another one that's knocking on the door now. I fully understand how these people felt going from place to place and just begging for someone to help them, just say hey we understand that this is not in your head because some ridiculous doctor along our route instead of trying to find out what was going on just decided that's it, is because they didn't want to deal with us. I am glad that NIH came up with this program, I am thankful that other people can go there and get help. I also was diagnosed with brucellosis and a lot of medical issues.
Thank you all for all the hard work that you put in each day to help us. I know sometimes you don't get towed that but we really do appreciate it.
81
@Dzambory I am sorry it took so long to get your diagnosis of hemochromatosis. It's one of the most common genetic diseases in people descended from a Scots/Irish background and so easily treated by bloodletting if caught early enough. A simple test of ferritin levels in your blood should catch this one.
26
This may be a dumb question since that would be the 1st things people check: could the environment and/or dietary interact the body in some of these cases, esp. Sara Silva, since hers remains a mystery. Has she moved? Systematically adjust her diet? Etc.. It is important to stress it may be some complex interactions at play and therefore singular tests in a lab setting, no matter how exhausting, have come up short
17
This intensive focus on diagnostics is desperately needed. So many doctors simply dismiss patients with health problems that aren't obvious. I recall going to four different doctors for severe headaches. I got lectures about stress and was told to take aspirin. I went for a routine dental cleaning. I didn't mention the headaches. The dentist took xrays. He pulled strings to get me into emergency surgery a few hours later due to wisdom teeth that had grown horizontally under the gums that were crushing nerves. He said it couldn't wait to the next day. I could have lost the feeling in my face and been unable to speak normally if it hadn't been addressed. Needless to say, after I healed, the headaches were gone.
125
@anita
Dentists and optometrists should be covered automatically by health insurance, they are important safeguards for our health.
118
@anita. Dentists know *a lot* more about medicine than they are given credit for, and are not so full of themselves that they're unwilling to think outside little specialist boxes.
41
@Jennie An optomotrist discovered my mother's brain tumor in the days before imaging. the other docs said it was psychosomatic.
40
Too many people, too few doctors. Medical insurance that penalizes doctors who order too many tests. The exorbitant cost of health care and medications. It used to be you were not let go unless an accurate diagnosis was made and a treatment plan was provided. Our health care system is broken.
56
@Diane L.
As a physician myself, I can tell you that doctors do order too many unnecessary tests. And, despite the frequently reported myth that this is due to fear of malpractice suits, I can tell you that the overwhelming majority are done out of greed. If an insurance company will pay for a test, you can be sure it will be done.
19
@SteveHpw about the reverse when someone dies due to not calling tests..as was the case for my 69 year old brother who died of Brain Absesses after going to his primary doc with severe headaches,then to the ENT with sinues with headaches going home with Flonase, then pulmonary doc after ten mos calls a chest xray,finding to spots on lobes,also peridontal desease two yers earlier, all to be told after Surgeon operates on 9 BL going into
coma and dying...with no one talking with me..
these symptoms were around for 2 years..sad
I found my Brother collapsed on the couch
next to his 98 year old Father. Why ...can someone tell me why further exploring wasn't done...….after secondendoscopy biopsy he died five days with the Brain Lesions.Can someone give me info to explore possible mistake with this case.
10
@Steve
Are you saying that doctors are not "encouraged" to send their patients to certain doctors because they are cheaper or that they are not "dinged" if they request too many expensive tests? I know a former physician who got out of medicine for just these reasons.
1
I may be cynical, but I would be curious to know what percentage of the people applying to the program and accepted to the program are girls and women who have been told that their pain is all in their heads.
I am certain that the program changes lives. As someone who works at a company that studies rare diseases, I know that the first step before a clinical trial on a drug is to understand the course of the disease. Unlike high blood pressure or arthritis, we do not understand how these diseases progress. Having patients and their caregivers come speak at the company is powerful and profoundly moving. Their diagnostic odysseys are incredible. Finding a diagnosis, even when there is no cure, is invariably valuable to them.
61
@Colleen M
Why must everything be viewed through gender lenses these days? For that matter, how many men were told the same thing, it's all in their head?
One thing for sure is that across all cultures, women display higher levels of neuroticism. Anxiety, depression, et. Surely sometimes that could lead to an ailment actually being "in their head."
I am not a psychologist, nor do I play one on TV.
4
@Colleen M
I am a pain specialist and I can tell you that all pain is "in your head" as pain signals have to reach the brain in order to be experienced. This is also why what is occurring in the brain is just as important as what is occurring in the periphery.
24
@Jus' Me, NYT. Thank you. I too am tired of that, especially since males and females do have different susceptibilities to diseases, including genetic ones. Perhaps Colleen M would prefer that the sex of a patient not be disclosed for fear of discrimination.
4
Fascinating article. This is a win-win for both the patients and the researchers. In addition to helping many of the patients, scientists get to study a group of symptoms that either further clarify a rare disease or provide an invaluable resource waiting for the moment when a newly discovered inherited or somatic mutation matches up with a previously mysterious syndrome.
16
I had searing aches and pains in my arms and legs while growing up. In my early 20s I went to a naturopath who had me eat only unprocessed foods, no salt or sugar, just fruits, vegetables, nuts, seeds, grains, legumes and take a hot bath with epsom salts in it every night before bed. Within 6 weeks the pains were gone for good and never came back.
Let food be thy medicine.
14
@TechMaven
You do not mention anything of significant, complete protein. Even estrogenic soy.
You probably went into big bore autophagy and cannibalized your own muscle and other organs to supply protein.
And eliminating process foods and sugar was probably 80-90% of your benefit received. Not a big secret.
But glad you feel better.
2
@Jus' Me, NYT. He did mention nuts. Not only are they a source of protein, they also provide very healthy oils.
10
@Jus' Me, NYT
Plant foods have a lot of protein, and the diet I mentioned also includes legumes and nuts. The naturopath gave me that diet, to others he included small amounts of animal protein 2-3x/week. Small amounts = 2-4 oz.
BTW, a friend saw him and his program for her got rid of a grapefruit-sized uterine fibroid within 10-12 weeks; one of my mother's friends claimed she didn't have arthritic symptoms when she stayed on his diet, but they returned if she strayed.
6
UDN takes very few patients, its almost impossible to get accepted and understandably children have priority .
My partner is lucky in that very few Physicians gave her"its all in your head" and most tried to help. Like most of these people she has been searching for a diagnosis or treatment for years.
What may be difficult for your readers to understand is that only with a diagnosis can people with a serious undiagnosed disease put to rest The Search. How do we give up when there is a chance that some doctor somewhere can help her.
Articles like this and other mystery diagnosis articles encourage people to keep searching and that becomes an obsession for so many people , homebound , sick but not dying.
Mayo, Cleveland Clinic, Hopkins do not have Diagnostic Clinics , you have to have some idea what's wrong , which speciality before they will agree to see you. If like many people you have global symptoms than they will not see you.
41
I am overjoyed that this exists, but dismayed that it is not larger. The AMA would have us believe that the supply of doctors must be tightly restricted to guarantee quality of care, but the experiences most of have is that our doctors can (barely) diagnose and treat only the most common ailments. It would make more sense (and reduce cost and increase the amount of care) for nurses and nurse practitioners to handle common problems, and for all MDs to behave like actual scientists capable of dealing with the toughest cases.
85
I'd like to know the criteria for acceptance of one's case. I assume, since this is taxpayer-funded work, we're accepting cases that further the research goals of the NIH. And hopefully, we're prioritizing cases of low-income people who would otherwise just suffer. If you have extra/lots of income, you have the resources to continue searching and can access excellent health care systems.
9
I am a patient with Stanford UDN. Although I do not have a diagnosis at this time, I am blessed to be a part of this research. The Stanford/ UDN physicians are an amazing team! I cannot thank them enough for their diligent efforts and assisting me In this journey!
65
In August of 2016, we bought a new mattress, a pillow top. Soon after, I began waking up several times a night with searing pain in my legs and feet. I felt like my body was on fire. My legs and feet were beet red. Walking barefoot on the cold tile of the bathroom floor helped. During the day I could not wear shoes without pain.
After several doctor’s appointments with no answers, I was diagnosed with EM. Several months ago, we began sleeping in the guest room on a mattress from 2004, no pillow top, no “miracle” foam, to see if my symptoms were coming from the mattress. Bingo! My symptoms have changed dramatically. No more burning up from heat generated by....the mattress. I tried sleeping on the pillow top mattress again and all the symptoms came back. Hope this helps those of you who are suffering with this disorder.
116
@Carole-“My Pillow” gave me debilitating one-sided, blinding headaches. Foam mattresses make me feel absolutely devastatingly ill. Allergies to foam and its “outgassing” are real.
72
@Carole .......Some of these products, pillow tops, come with a strong chemical smell. I’ve heard of new sofas also taking days to “air out” before the “new” smell disappears.
10
@Carole
Holy moly - unregulated toxic chemicals.
Be careful what you buy. Be careful what you sleep on. Be careful what is in your house, and in your body.
Thank you for this information.
37
As someone with a rare chronic illness, I applaud the NIH for its efforts.
It took more than ten years for me to have the beginnings of a diagnosis, and so many doctors told me I was "fine" or, after adding one new prescription to my regimen, said that was all they could do to help.
I'm very grateful to the medical professionals who took me seriously, helped me to collect my symptoms, and started to see the pattern behind them.
My advice to others who are searching for diagnoses is to keep seeking out new support--and reading stories like this one, which offer a ray of hope.
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This has to be one of the most brilliantly innovative programs NIH has ever initiated.
There is so much we don’t know in medicine. All diagnostic syndromes are based on a common pattern of symptoms and timelines, amongst other parameters. However, many patients’ illnesses do not fit these patterns. The average well-trained and conscientious physician only has so much knowledge as one can absorb in eight years of post collegiate training (fours years each of med school and then specialty residency).
Further, with productivity-based time constraints turning medical practice into an assembly line, even deeply concerned physicians’ hands are tied and they’re essentially left with the painful conundrum of telling the patient “I don’t know what you have but I don’t have the time or resources to figure it out. Sorry.”
Sadly, too many of these patients may be arrogantly told by other physicians “since I/we can’t figure it out, it must be in your head … deal with it.” Medical hubris at its ugliest and also deeply traumatizing to the patient.
Fortunately, I enjoy good health. But there are many who grapple with complex and debilitating illnesses that defy customary medical evaluation approaches. For them, this program is a godsend. Congratulations to NIH for such innovation!
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Thank you for this wonderful article. It illustrates so well the importance of federal funding to support meticulous research, connecting dots of rare information, to hopefully find treatments for these long suffering patients.
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