Jan 25, 2010

Mystery Diseases (Diagnosing the Undiagnosable)

Lots of emails to Doctor D ask:

Why hasn't anyone figured out what's wrong with me?
This a common sentiment of patients whose doctors have yet to find a reason why they feel miserable. Patients with mystery symptoms tend to get lots of tests and shuffled to lots of specialists. More people than you might think are in this limbo of an illness without a diagnosis.

This is frustrating for everyone. Patients get irritated with their doctors: "If I just had a smart doctor like the ones on TV I would have been diagnosed by now." Doctors, who like having answers and hate looking foolish, get frustrated with patients and wonder if the weird symptoms are all in your head. We need to all take a collective deep breath.

We all want uncover the mystery diagnosis, but we have to acknowledge an unfortunate possibility:

We sometimes won't find a diagnosis.

There are diseases that are very common and ones that are very uncommon. It also stands to reason that there are diseases that may be so uncommon as to not yet be discovered. Some diseases may be so uncommon as to affect only one human being, which could be you. If this is the case you could never find a “diagnosis” per say, because a diagnosis groups you with other people with the same disease.

There is a point at which we say, "We've done a thorough work-up and found nothing. You may have to live with this." Doctor D hates saying this as much as any doctor, but at sometimes it needs to be said.

What is a disease?
Literally disease means dis-(without) ease. If you are visiting doctors because you have miserable symptoms you already know your body is without ease. You don’t need a multi-sylable medical term attached to your suffering to know that you suffer.

When doctors diagnose diseases, we look for particular patterns of symptoms and physical findings that are specific to known illnesses. It feels great for everyone when Doctor D can say with confidence, "You have _____."

But naming your disease doesn't cure anything. Having a diagnosis is useful because we can look at research from others who have had the same disease to know what treatments work and how we can expect the illness to progress. The rarer the disease the less other patients we have to get useful info from. We can just name your disease symptoms after you (John Doe Syndrome). It might feel satisfying to give it a name but it really doesn't help us make you feel better.

The Good News About Mystery Illnesses
People with mysterious symptoms get a lot of tests. A competent work-up has likely proven you don't have certain dangerous diseases. Doctor D has yet to see a patient with a mystery illness after a good work-up die. (I'm not saying it never happens, but it is exceedingly rare.)

Why? Even though the number of conditions that can cause discomfort are limitless, the mechanisms that can cause your heart to stop are fewer and generally well-known. Your large work-up has probably excluded most of the mechanisms that lead to premature death. A negative work-up can be a good thing.

Doctor D has often reassured frustrated patients about negative studies, "Trust me, you don't want the disease I was looking for."

The other good news: We don't always need a diagnosis to treat your symptoms.

Treatments do two things: postpone death and/or decrease suffering. A thorough work-up makes impending death unlikely, so we are left with easing the suffering. Doctors often treat symptoms even without knowing the underlying disease process. Whatever helps your symptoms and isn’t dangerous is a good treatmentwhether it be Tylenol, or nice sunset, or an off-label use of a medicine.

Shifting Perspective
It can be liberating to realize that finding a diagnosis is not the be all end all. Lots of patients with mysterious symptoms get run through a gauntlet of tests and doctors and often feel pressure to advance to more uncomfortable and even dangerous testing to find an answer. Doctor D has actually found that patients often find it comforting to not to "have to find an answer."

Sifting the aim of care from finding a diagnosis to learning how to treat and live with your symptoms doesn't mean that we've given up. It just acknowledges that the ultimate goal is not diagnosing diseases, but helping you find ease and comfort.
What do you think? Do you have a mystery illness? Are you a doctor who works up patients with mystery illnesses? What do you think about acknowledging not all diseases will be diagnosed? As always Doctor D loves to hear your stories and perspectives.
Click here to read follow up post: What Is A Proper Work-up?


Helen said...

I don't really have a mystery illness, though there is an illness I MIGHT have (Brugada Syndrome) that some of my doctors think likely and others think extremely unlikely. Sometimes I feel like they're using me to prove a point in an argument - they keep doing new tests, each hoping to prove that their own diagnosis and treatment plan is correct.

I find the uncertainty a little nerve-wracking, especially as so little is known about Brugada. But what I find the most frustrating is this back-and-forth bickering between my two sets of doctors, with me in the middle. It just leaves me feeling anxious and angry.

Luckily there's one very good doc at the centre of it all who totally gets my frustration with the others. His advice to me has been just to go with the flow - we know I have HCM, we know something else isn't quite right, and a first-degree relative died of a sudden cardiac arrest, so we're treating whatever this is aggressively and intelligently. Still, it's sometimes difficult not to wish I had more answers.

Maybe in future you could do a post on what patients can do when specialists disagree. I'd be very interested to hear what you think.

Michael Laccheo said...

Excellent post. Thank you.

Anonymous said...

I have ehlers danlos and there are no doctors around that know much about it. It took me about 5 years to get a diagnosis from a rheumatologist. It is genetic and there is no cure for it. I was elated to find out that there was a name for what I had. Now I knew it wasn't in my head and I could prove to doctors that something was really wrong. The main symptom is pain and many doctors don't like to treat pain when nothing shows up on the MRI. So, for me it was a relief to know what I had and then I was able to get proper treatment from a fantastic pain specialist.

Doctor D said...

Excellent point Anonymous. I don't want to minimize the relief that people feel when they finally do get a name call their disease. Unfortunately we cannot give that satisfaction to everyone.

By the way for an excellent blog on the difficulty of looking for a diagnosis I recommend Queen of Optimism.

Lex Tenou said...

Excellent post, and one with a lesson I fervently hope I may be able to retain in the years to come. Thank you very much for posting this.

Anonymous said...

I had a mystery disease for two years. At the end of the first year a rheumatologist told me it would either "go away, stay the same, or get worse. And sometimes it needs to get worse for us to figure it out, but you won't die before then." That explanation took a lot of anxiety away from me. I gave up going to more doctors and lived with the symptoms for another year before they became worse, the problem then became obvious, and I was diagnosed, just as promised.

Doctor D said...

Anonymous, you have a very wise Rheumatologist! Sometimes watchful waiting reveals what test after test will not.

Doctor D may have to steal that line:

"It will either go away, stay the same, or get worse. And sometimes it needs to get worse for us to figure it out, but you won't die before then."

Brilliant in it's simplicity!

queenofoptimism said...

Thanks for taking on this subject. It is certainly an important subject for me.

As a person with mystery illness(es)I struggle with this. Sure, I’m unlikely to die because of a lack of diagnosis but that is not much of a consolation for me as a person whose symptoms are worsening and therefore, limiting my ability to walk, drive, work, and exercise. And, if I want to be more melodramatic – my ability to have the kind of life I want to live. Don’t call the psych ward…. But there are times when death seems like a more attractive option.

My pattern seems to be that once I reach a level of peace about not having a diagnosis, a new symptom appears. So far, the treatment of symptoms for me is not working too well.
Recently, I was prescribed Neurontin as a way to ease my symptoms/disease even though I do not have a diagnosed neurological condition. Is it working? I don't know. Here's what I do know. Since taking Neurontin, I developed an increase in pain in my left leg. The pain has since reduced. I also developed new symptoms: muscle spasms and pain in my right sternocleidomastoid muscle and surrounding muscles on my chest, back, and right arm. Is any of this a side effect from the Neurontin? My doctor says no. Now what?

Life as an employee without a diagnosis is challenging. I get questions like, “Will this all be over by February?” “What is wrong with you?” “I don’t get it” “Is this because of stress?” “Do you have lupus?” I need my job. Walking this line of divulging just the right amount of information is precarious. It’s also a daily reminder that I don’t know what’s around the corner as far as new symptoms and worsening of symptoms

My husband has joked for years that I have “Queen of Optimism” disease – that I’m one in a million. Perhaps I am. I think I could accept that if all of my physicians, specialists, and subspecialists talked with each other at least once and gave it the good ‘ol college try to consider a possible diagnosis instead of passing me around and passing me off.

Anonymous said...

I had a mystery illness for several months and eventually was diagnosed with a rare disease.

Here's one thing I learned along the way of seeing many doctors, each of whom tried their best to figure out what was wrong. This may or may not be helpful to others in the same boat, but I wish I'd done it sooner myself:

I learned to not begin a visit with a new doctor by repeating the working diagnosis of the previous doctor. At first I had thought this approach would be efficient and helpful, but eventually I concluded that it limited their thinking. It got doctors going down a track they might not have taken on their own. It was a distraction. I really needed each one to think creatively and independently.

So, for me, it worked better to start by describing my symptoms and just let the doctor be free to think or do whatever, and then LATER say what other doctors had said and done, when I was asked about that. They still had the benefit of knowing what their colleagues thought, but it didn't cramp their mind by hearing it right at the beginning of assessing me.

Well, it's hard no matter what. Looking back, I can see that my first doctor was VERY close to the right answer but couldn't trust her intuition when it put the answer outside of what was statistically likely. Another doctor got fixated on a special area of interest to him that proved irrelevant. Etc. It was a learning process for all of us.

queenofoptimism said...

Thank you to the anonymous commentors. You offer me strategies and hope! If Anonymous of 8:49's story comes true for me, then I have something close to MS. (My doc has been thinking this for over 5 years).

Doctor D said...

Thanks Queen! By the way I love your blog.

I should clarify: I am by no means saying that everyone without a diagnosis should just quit now. I am only bringing up that no answer at the end of the search is a possibility and it's not the end of the world.

I'm glad they are looking into MS for you Queen. I was wondering about that myself.

8:49 Anonymous:
-Great idea about telling your story before you give away the presumed diagnosis. It keeps your doctors thinking.

Anonymous said...

Since this post is about difficult dxs, people might also enjoy reading the book _How Doctors Think_ by Jerome Groopman; it explains the methodology (or not) behind some doctors's thinking as they try to diagnose difficult symptoms.

Very interesting reading, I thought, and it helped me remember that a) doctors do their best but remain only human and b) critical thinking counts.
Nice entry, Dr D.

MLee said...

Dear Anonymous with the EDS,
It is true, not many doctors know about it, not really sure why. It took over 18 years for an out of town doctor to take one look at me, move a few joints around and pull my skin to just state you have eds, lets take a biopsy to confirm it. other doctors just told me that i was too rough and all dislocations and lig tears are freak of nature. The one who did care went to treating the dislocations and preventing them. I was very happy with that and did not need an answer. Yet, when I did get an answer out of the blue, I was happier

Anonymous said...

I'm fortunate that my rheumatoid arthritis diagnosis was made fairly quickly, as I read that many people with RA wait years before being diagnosed, while in the meantime suffering debilitating, disabling pain even as they're told "it's all in your head." Thank you, Dr. D, for trying NOT to do that with your patients.

I can understand how not having a diagnosis can be miserable; the worst, I'd think, would be dealing with employers, co-workers and family members who, naturally, want to know what's wrong and why you can't do what you used to be able to do. At least with a diagnosis you can tell them something.

Anonymous said...

I have 2 sons with rare conditions (one with headaches from a long-term CSF leak, and another with Crohn's disease) While still undiagnosed, I had MANY doctors think they did a complete work up, claim it was in their heads, and not offer anything to help with symptoms. I found it most unfortunate that I had to research to understand what a full workup should be given their symptoms and had to go to many doctors to find adequate ones. Most people do not have any understanding of this ... and I think your article over-simplifies the issue and gives too much credit to doctors that do not do all tht they could have done.

Doctor D said...

Excellent point Anonymous. I did over-simplify some things, but I think that your critique is also over-simplified in that it doesn't account for the risks involved with work-ups. (Which is fine--you are talking from personal experience and we all generalize our personal experiences.)

Thanks for the great idea for a post. Doctor D shall answer your question in much detail on next week's post.

Amy said...

I can certainly understand that in the end of searching there may still be no answers. I come from a different perspective than most who have commented. My daughter was born with congenital anomalies and has added many signs and symptoms to her list over her 13 years of life, still no diagnosis. From my experience I started a non profit tax except organization due to seeing many other children affected by an undiagnosed condition, Syndromes Without A Name www.undiagnosed-usa.org . So I see many children with all sorts of ailments that are undiagnosed and I see some of them die without a diagnosis.

If we are not certain what it is that affects our children’s lives in so many ways, we can’t be sure if they will die or if there is treatments or if it is so rare that they are the only ones. Even being so rare that they are the only one, most disease identification started where people were identifying some connections with symptoms. I believe that we need to do more to address some of the issues that cause so many to go undiagnosed, the problem is much larger than most think.

There are so many diseases, so many different tests, so many advancements in medicine and so many different specialties. It is very difficult for anyone to know if a complete work up has been done. It is obvious to me that many things are missed because diseases present themselves differently and doctors have different knowledge bases.

It is not just a name that we need but it is the understanding we may get from that name. They say knowledge is power, when we don’t have the knowledge of what is affecting us or our children we don’t have power over what happens. There are so many different possibilities for what that knowledge may give us the power to do, I can’t even list them all.

Doctor D said...

Thanks Amy!

I should clarify: previously healthy people who have had a thorough work-up very very rarely have a life-threatening problem if they remain undiagnosed.

Unfortunately, the same cannot be said for strange symptoms that have been present since infancy, which can represent genetic or metabolic disorders which can often prematurely end life.

But,the same issue exists for congenital diseases as for any other exceedingly rare disease: With few others to compare it to, having a diagnosis may not help us with treatment. And many genetic diseases have no treatments with our current medical knowledge, nor are we often able to test treatments with so few people to test. There have been successful tests on individual patients with such illnesses. I'm also willing to wager there have been lots of unsuccessful treatments that prematurely ended the child's life, and those stories don't get made into movies.

In the end we often just treat the symptoms, which we could have done without a diagnosis.

I understand your frustration. My son Little D has been diagnosed with a very rare genetic disorder. Fortunately right now his symptoms are mild and he is living a normal life. As a doctor I read everything I could find on his illness. There was almost no data and all the information on his disorder was non-conclusive. He could live a completely normal life or he could die very young. In the end all we know is to treat the symptoms as they come.

His work-up (which was by no means large) only really did him harm in the end. We still just watch and treat the symptoms, but thanks to the rare diagnosis he has been refused health insurance by every insurance company.

I understand the desire to know why your child isn't normal, and certainly particularly children should be very thoroughly worked-up, but in the end the same problem exists: not every answer we find is useful and the more work-up we do the lower the likelyhood of finding an answer that is helpful.

Anonymous said...

I wish someone had really looked at my medical history a long time ago. It could have saved me a lot of grief!

A thorough work-up did eliminate many possible problems, but it didn't diagnose me.

EDS and Marfan's can both kill if they aren't diagnosed. The playwrite who wrote 'Rent' died because of undiagnosed Marfan's causing an aortic dissection. My great-grandmother and great-uncle both died of what were probably EDS-related hemmorhages in their brains.

On the other hand, my pain condition that no one wants to name (but which shares an awful lot of symptoms with fibromyalgia) wouldn't kill me, but man does it ever make life uncomfortable.

I found it interesting that my pain management improved dramatically when I got diagnosed with EDS. Suddenly, my pain specialist was willing to put me on a long-release medication instead of vicodin, and it was a huge help. ...okay, interesting isn't the word for it. I was frustrated and pissed off that suddenly what I was saying about pain levels was treated differently just because a doctor finally had a name for my condition.


Anonymous said...

I have a debilitating undiagnosed disease, for which my wonderful family doctor is treating my symptoms. I accept the lack of diaagnosis. What I do not accept is that 3 specialists refused to treat my symptoms when they could diagnose me. I have also had 2 serious problems in the past that were dimissed as "in my head" until medicine was able to dignose them. Most doctors are way to eager to dismiss the undiagnosible as "in your head". Many doctors also do something else when they cannot diaagnose a problem: they dislike these patients and are not hesitant to treat them with contempt or even cruelty. In most cases of people who complain about their doctors, it is because of this situation. Doctors need to learn in medical school how to be a caring, concerned doctor even in the face of ignorance about a patient's illness.

Amy said...

There are many different types of situations was my point. Everyone doesn’t fit into the same box, meaning it may be true that a label may not but useful in some situations.

You can treat the symptom but often there is more behind the symptoms caused by other symptoms. It isn't simply a rare disease that has one or a few symptoms. The symptoms are many and are pieces of a larger picture, many times knowing what the large picture is helps treat the symptoms.

What I was trying to point out in my previous post, medical science needs to start somewhere, rare or not. They start with getting a group of people who have a similar collection of symptoms and then researching it. What comes next is of course unknown to you and me but the potential is hopeful.

Have you heard of GINA, Genetic Information Nondiscrimination Act? Insurance will deny a child with or without a diagnosis, my daughter has preexisting conditions based on her symptoms. If a person has no symptoms related to their genetic information then GINA will help with that.

Aurora said...

A ton of responses. This is a great post. My mom had pain for years without being diagnosed and had trouble getting treated because the doctors thought she was making it up. Now that she can tell them a name of what is wrong, she tells me it is much easier to be taken seriously for her pain and other symptoms.

Thanks for the great blog!
Aurora@ http://www.mditv.com

Dragonfly said...

I like the phrase "it will go away or declare itself", same as Anon 5:24 said.


Hey Dr D, A question. I think you have done a post on this before...or maybe it was Happy? gah I don't have time to scroll through both blogs.

As a specialist are you responsible for following up lab results in patients, or do the plebs (registrars, house officers) follow up the results and inform the consultant?

Anyway, as a Dr for example, if you saw several months worth of abnormal labs on a patient would you.

Advise the patient after seeing a consistent trend? Arrange follow up with more labs and the possible cause of the results.

Not tell the patient and monitor the condition silently (waiting and seeing) and continue to give the possibly harmful meds to thus patient which could be the cause of the abnormal labs?
Without following up with bloods unless patient acutely unwell?

Does a patient have a right to be informed of abnormal lab results especially if consistently abnormal?

How in general do Drs handle abnormal results of tests?

Also finally (sorry) Im trying to rationalise something here.

How can a patient feel trusting again of a service when they tell the patient the labs are normal every time when they clearly are not normal? False reassurance has led to mistrust.

As you may have gathered Im slightly peeved again. I stumbled across lab results, haven't panicked, but feel quite disillusioned that things appear to have not changed. I have limited options, cant change the service provider as there is only one. I have to rely on this service for a life time and am struggling with this.....

Yes I have spoken with my specialist and they are now doing more tests (four months late) but I cant shake this horrible feeling.

Aviva said...

Nearly three years into an undiagnosed mystery illness that has made a mess of my life, I sometimes think I just want a label even if there's no treatment/cure for the illness, just so I have something to tell people when they ask, "What the $#@& do you have? And why are you still sick after this long?"

It seems to me that the longer I go undiagnosed, the less interest doctors have in my case. (With the exception of my PCP, who is absolutely awesome and truly cares about me.) And the supportive friends who really reached out to me when this all started in an acute kind of way have lost interest too. Being chronically ill is isolating, but being chronically ill without a diagnosis leaves me without a community to turn to. (There's all kinds of support groups in my city for various diseases, but where's an undiagnosed person to go?)

And while I know it's unlikely that whatever I've got will kill me, I keep reading about people who are sick for many years and then finally get a lupus diagnosis only to find out that they've had enough damage to various organs that by the time the doctors are ready to treat them with immunosuppressants, it's essentially a fatal illness for them and then they die within a year or two of diagnosis. That's just scary to think about.

But thanks, Dr. D, for tackling an issue that affects more of us than I'd ever imagined in my mostly healthy previous life.

bluetooth buddha said...

Great post, Dr. D!
As a emergency doctor, I've not had to deal with diagnosing mystery illnesses, but I can well understand how important it is for the patient to have a name for his suffering.
One of the best 'provisional' diagnoses I've seen is from my first year as a resident: GAK!
Nobody could give me the expansion, so I mustered the courage and asked the professor who had made the diagnosis.
Prov. Dx: "God Alone Knows"...

Doctor D said...

An interesting study for this conversation:


Only half of patients with fatigue get a diagnosis after a year of work-up.

emmy said...

A few years ago I began having spells where I would have sudden onset of excruciating generalized pain and muscle spasms. When I would get this I would be sent to the hospital and they would find that my potassium levels were below 3. I would spend two or three days getting pain medication and IV potassium and I would be better until the next time it would happen. Finally after it had happened a six or seven times I was changing PCP's so I was getting a physical. The new doctor noticed that my potassium level was 3.1. I told her that I hoped that it didn't go any lower because it causes me to be in pain when it gets below 3. She put me into the hospital to get IV potassium and to run some tests to find out why my potassium would go so low. They found out that I have Primary Hyperaldosteronism and since it's being treated I haven't had anymore of the pain episodes. Now when I think about it, I wonder why none of the hospitalists or my old PCP were interested in finding out why my potassium levels were so low. It does seem like a question they should have asked.

Anonymous said...

It's great to know if some bad deseases are ruled out, but it's depressing to know I'll have undiagnosable pain for the rest of my life. Sometimes I feel energetic and feel like taking a walk or dancing around, but I know I can't because I just don't want the pain -- I am, in a snse, restrained on a leash now. I can't be myself anymore. And I especially hate paying medical bills where the result is nobody can find any reason why I have such pain. I know the doctors want to give me an answer just as much as I want an answer, but it doesn't make it any easier to live with the pain.

Anonymous said...

There is a seven yr old African American female that has been having trouble since the age of five she started offf with rare growth patterns (she is extremely tall), she has a problem with gait she walks with a walker, her speech is slurred you can barely understand what she is saying, she has recently started losing weight at a rapid pace. Do you have any idea what this young lady could have? She has been tested for almost everything and all the tests are coming back negative....

Doctor D said...

Hi Anonymous August 30th,

I'm sorry but I can't. If you read this blog often you would know that I never give out diagnosis or treatment advice online.

See here for more details.

Plus if your doctors can't figure it out with exams and tests I'm not likely to get you an answer after reading a hundred word blog comment.


Ali said...

Very good post. Through 14 years (which is almost half of my life) I have dealt with a lot of unknowns with my health - with an occassional definate diagnosis but never something that encompassed everything (for example I was diagnosed this year with chronic pericarditis - but a rare type which is only affecting the back of my heart - which was very hard to see on any tests for YEARS - finally they did an Echo and at the right angle to see the thick and inflamed pericardium ... believe me I wanted to frame that picture!) thankfully I do have a rhumatologist who is willing to treat inflamation even though they don't know what is causing it all. I believe one of the biggest issues when looking at a mystery diagnosis is that friends and family start thinking it may all be in your head (appreciated that post too) if you don't have a name to give them to why you are in pain, sick all the time. It helps me to know that the human body is very complex and doctors don't know EVERYTHING (gasp!). The God who made me knows what is going on, and that is comforting. I recently started a blog about living well in chronic pain differenthappyali.blogspot.com and hope to encourage others to live the life we have even if it's not what we would have chosen. There can be happiness even in the midst of horrible medical conditions ... thank you for dealing with some of these issues and helping us patients (and doctors) think through the way we deal in this world of medicine.

Brat said...

Also, I have found that the treatment given for something can tell you what the cause is.
I've had insomnia for four years - Once I stayed awake for ten days. I got paranoid about velociraptors.
Doctors (mainly of the psych variety, cos it was obviously all in my head) gave lots of drugs and ordered expensive tests (The sleep study at least concluded that I wasn't actually sleeping. Spendy for something I was telling them myself.)

So then, three months ago, my regular doc was on leave and I saw a newly arrived American, who suggested I take large amounts of melatonin. It works. Unfortunately it's not regulated for sale here, so I have to pay huge amounts for it, and I'm taking a lot more than the specified amount on the bottle because turns out my brain produces almost no melatonin on its own. And that's why I can't sleep.
$200 a month for sleep? Beyond worth it.

Anonymous said...

Good post, Dr. D! Like some of the other posters, I have some experience with navigating the medical system when one has an undiagnosed or rare disease. What I found the most frustrating was the Drs who would insist that it was all in your head. Even after getting a diagnosis, I had a PCP tell me that since he had never heard of the condition, I must be fine and it is all in my head. He refused to read the notes provided by the specialist that had diagnosed it, instead insisting that I take anti-depressants, go to therapy, and wait until I had permanent nerve damage from the condition (before he would agree to treat any of the symptoms). It was beyond frustrating, especially knowing that the symptoms could be managed and the permanent damage could be avoided with a little symptom management). Drs like that are a hazard to their patients and the medical community, as it makes you never want to go back and delay getting care....

Anonymous said...

My 2 yrs child got some kind genetic disorder. One of his leg is bigger than the other and he got 7 fingers in his leg. Do you have any suggestion about his genetic disorder

Anonymous said...

Ten years ago, my brother-in-law Michael Esparza (age 40) suddenly began to experience what his doctors have deemed to be "the most severe case of insomnia" that they ever witnessed. They have all said that they do not have a clue as to the origin of his illness. He has consulted a myriad of doctors within his native Los Angeles area, including sleep studies at UCLA. He has taken every medication that his doctors have prescribed all to no avail. Some medication like Lunesta made him have horrible nightmares. He simply hasn't been able to sleep and he hasn't been unable to work or care for himself so my in-laws who are in their 60's take care of him. He feels absolute guilt for his condition and he doesn't want his parents to suffer along with him. He has given up on life, broken up with his girlfriend (because he doesn't want her to be subjected to his illness) and he doesn't want to be deemed to be a burden on his parents. I would like to know if you could provide me with the names and contact information for the most prominent doctors in the area of Insomnia studies.

Tracy said...

Just chiming in to say that I'm another person who really had to push for a diagnosis. In my case, treating symptoms wasn't helping. And although I'm sure most doctors thought they were doing complete workups, I had the same old blood draws for about six years before anyone thought to order other tests.

Finally, a great general practitioner took me seriously. When I said, "My muscles are always tight. I have a high tolerance for pain, and this is excruciating," he didn't write it off as hyperbole. His default assumption was always that I was truthful and rational. He said from the beginning that he'd refer me to local specialists first, but that I'd probably end up having to see a university specialist. He was right.

Most of the new tests I had over the next two years told us nothing, but my doctor didn't give up.

Eventually, I was diagnosed with atypical myotonia congenita, a kind of potassium-aggravated myotonia, through EMG and DNA sequencing.

Sure, it's rare. Sure, it won't be on the radar of most primary care providers or even most neurologists. But that doesn't excuse the doctors whose default response to negative blood tests was to disbelieve me and make assumptions about my mental health.

I shouldn't have ever had to go six years before someone ordered more than ANA, thyroid, and Lyme workups. And I should never, ever have had to put up with dismissive and insulting specialists once I got the referrals to see them.

Love the blog, by the way. I've been an intermittent lurker for ages.

flyingvan said...

OK, here's one for you.

My wife is 45 years old, 88 pounds (No, no eating disorders, just small) hit 't-bone' car accident in January, had trouble standing immediately after but no obvious trauma. A few days later noticed every time she eats or drinks she gets these neurological signs and symptoms. She can trigger an episode reliably 100% of the time. First her right eye goes blurry. Then bilateral tinnitis. Then complete loss of balance. She starts slurring, and eyes and nose get runny. Then this involuntary spasm of her diaphragm happens. She describes it like all her blood is shunting to her stomach. We've closely tracked blood pressure before, during, and after---it always spikes as the symptoms come on, there's no hypotension involved. Her blood sugar remains good--lowest ever was 66 highest was 110.
We've exhausted the neurology route--Brain CT's MRI's, carotid studies, neck soft tissue MRI's, EEG before and during an episode all normal. We are going to still do a trans cranial doppler to see if blood flow changes or there's some abdominal aortic steal going on.
The only positive findings so far are two hepatic adenomas, and an elevated c-peptide (9.1) and proinsulin (44.9). Test was done twice in two days, same results. Blood sugar remains good.
No underlying medical issues previously. Extremely healthy diet, aerobics, yoga, very rare alcohol and no tobacco use. No gastric bypass surgery in case you're thinking 'dumping syndrome'. My formerly very active wife now spends her day unable to get up and scared to eat. No way to live.
Right now we're at the stage you mentioned, getting tossed from one specialist to another---we were scheduled to see an endocrinologist/internist but after reviewing her chart re-referred her to a gastroenterologist.
I've spent hundreds of hours online trying to find anything like it--nothing really fits. Can you add to my 'list of things to rule out'?
3)Transient intracranial hypertension


Anonymous said...

I am at the place in my life where frustration is an understatement. My desire for a diagnosis is not because I want a label, nor is it because I expect an instant cure to come right along afterwards. Information is power and I would really appreciate a diagnosis for no other reason than to know what it is I am dealing with and what to expect. I have tried to cope with the issue for five years now..I have maybe bits and pieces of information but nothing truly solid-Positive for a double recessive MTHFR gene of the A1298 varient, endocrine system abnormalities that have resulted in at least one surgery....what does the MTHFR genetic issue mean? How does it apply to me? I don't expect those answers here, but I DO expect them from the physicians I am dealing with. I am two steps away from really getting angry. I deserve better than flippant answers. I deserve professionalism from the treating physicians-not to be the butt of their jokes that they don't even care to make in front of me. I can stay home, get worse, get better, stay the same or what ever...And I can also keep my rusty money right in my bank account. Maybe THAT part deserves some attention.

Doctor D said...

Anonymous 4/25/11:

I can't help but wonder if the reason you aren't getting good answers from your physicians is that there may not be many answers to be had.

I would guess that a "double recessive MTHFR gene of the A1298 variant" is a pretty rare condition. I've never heard of it. Don't be too upset at physicians who haven't. There are tens of thousands of similar exceedingly rare poorly understood genetic mutations. Researchers are often lefts scratching their heads. These are sometimes found in so few people that we aren't able to get a clear picture of a typical set of symptoms or prognosis, or even whether the mutation is related to a person's symptoms at all or if it's just a red herring.

This can lead to some difficult conversations on both the physician's and the patient's part. Frustrations, irritations, and poor communication often result from dealing with such mysterious, ambiguous illnesses.

My own son was diagnosed with an exceedingly rare genetic condition as a baby. I'd never heard of it and the doctor who diagnosed him couldn't really tell me anything about what to expect. At first I wondered if his specialist wasn't good enough. Then I went to the science myself and discovered that there just wasn't any good data on his condition. There were only a couple hundred cases that had been studied. Some kids had almost no symptoms while others had miserable symptoms their whole life or even died, and they couldn't tell why the difference. It was horribly frustrating as a parent to realize that no one in the world could tell me what to expect for my son. Fortunately he is doing beautifully now, but if he were still sick from this I'm sure I'd still be pulling my hair out at this lack of knowledge.

Discussing uncertainty is very hard for doctors. We are expected to know everything and when we don't we often cover our ignorance with BS rather than admitting it. In a condition like this it is important for you and your MD to discuss the limits of what can be known about your condition with our current knowledge and how you are going to work together in this situation.

Not an easy conversation for either the doc or you.

Have you read my series HOW TO GET A STRAIGHT ANSWER FROM A DOCTOR yet? You might find it very useful for your situation.

Good luck.

Anonymous said...


Anonymous said...

My daughter had stomache/intestinal pains/cramps as a child, age 5, then it went away, doctors could not find a problem. Then it showed up rarely off and on, but not enough to think it was chronic. Now, right after she left college, it exploded into almost daily nausau, throwing up, stomache pains. Most recently after moving in to a different house, and my worry was she was poisioned by arsenic in the water, as it is an area surrounded by agriculture, and pesticides, but doctors won't test her to see if it is in her system. MRI done, throat probe, and emptying test done, all show nothing. She has no regular doctor, or insurance, so appointments are always a month apart for testing while she suffers, what can we do???

Doctor D said...

As I've said before I cannot give medical advice on the blog, but I can let you know a few thoughts:

The fact that she's been checked out and no problems found is a good thing. It probably means that her physicians don't suspect it is a life threatening condition.

Has she asked about treating the symptoms during the process of looking for a diagnosis? We don't always need to know what's going on to treat symptoms and lessen suffering. But often if you are totally focused on finding a diagnosis your doctor will similarly focus on diagnosis and not think about relieving symptoms now.

Finally: You think it is the house. Have you tried having her move out for a while and see if the symptoms decrease or go away? I can't say one way or another if the environment is the culprit, but you may save a lot of time and money by some simple and safe experimentation.

Anonymous said...

For 20 years I have suffered with lower right sided abdominal pain that comes and goes. When the pain flares, my hair gets dry, brittle and falls out--alot! I have had every test under the sun with no diagnosis. I am depressed and at the end of my rope. In younger years i didnt worry about it as much now I do. Other aches and pains have come about over the years too such as low back and leg pain that comes and goes. I dont know if one is related to the other as a progession or not. I just know I am sick of being sick. My hair is atrocious my scalp sometimes burns I have one third of the hair I used to have and I dont know who else to see. What does one do when they dont know what else to do? This has ruined my life!

Anonymous said...

10 year old stomach ache

Symptoms: upper right side and back pain, fatigue, joint pain and frequent skin abcesses

1. Diagnosed with Gallbladder disease – gallbladder removed – no relief from pain – just more trips to the restroom!
2. Told I probably have Crohn’s – test negative
3. Told I probably have Celiac – negative
4. Oddi Dysfunction – had procedure no change in pain!
5. Liver healthy, pancreas healthy –

All tests are negative and it’s not in my head! I get better for a while and then it’s back for months at the time.

I have lost hope on getting treated. Last Gastroenterologist said go home for a couple of months and see if it goes away. I left in tears!

Last hope, I’m going to allergy specialist to see if it is food allergies. Any other ideas would be appreciated.

Anonymous said...

im 5 1/2 ft tall and i have gotten down to 96 lbs and not by choice. i was 140 after i had my daughter almost 2 years ago and i have jus been steadily loosening weight. i feel so small i can see my veins and i havent been this small in over 10 years. i only eat maybe 2 or 3 times a day but i eat at night im scared somethings wrong with me should i go to the er?

Anonymous said...

i have severe abdominal pain i went to the doctor eleven times i've had numerous tests yet
they cant find anything wrong my stomach is completley swollen and no one believes that i am in so much pain but i cant handle the pain anymore my parents have spent thousands trying to help me but nothing has happened i dont even know whats wrong the symptoms are
being tired all the timee
shifting pain through out my tummy
swollen tummy
gain in weight
severe head aches
red eyes even though i constantly sleep
constapation then dihorea
all mainly at night
if anyone can help me please leave a comment
also i have had the flu for 6 months

Anonymous said...

I've only just come across this blog, and it's a very interesting post. A little over 18 months ago, my father started suffering a string of symptoms that - as yet - haven't let to any conclusive/definate diagnosis. Lots of things have been put forward but they've all been discarded after no more than a week or two.
As a family member, it's difficult watching him go from specialist to specialist and never get any answers - but it's even more difficult when no-one seems able to treat the symptoms even remotely successfully.
Now, it seems they're taking the 'wait and see if anything else turns up' approach - which would be fine if he wasn't stuck living with pain/dizziness/lethargy etc etc...
Undiagnosable illnesses are inevitable, but they can take a heavy toll on patients and their families.

Anonymous said...

Many of the unidentifiable situations described here are likely to be linked to vaccinations.When this occurs the only hope is to try and avoid more chemicals such as scripts and clean up with lifestyle modifications.

Doctor D said...

Vaccinations? Really? Jenny McCarthy you really need to stop these anonymous postings!

Poor vaccines save millions of lives and get nothing but hate!

Most vaccines are very well studied. There are exceedingly rare vaccine-related illnesses which have been described, but there is lots of evidence that vaccines are NOT the cause of most of the illnesses for which they are blamed.

I understand the desire to find someone or something to blame when you have an unexplained disease, but encouraging others to avoid something as essential to health as vaccines with no evidence is downright irresponsible.

Anyone who encourages others not to get vaccinated should be forced to watch an unvaccinated person die an agonizing death from a vaccine-preventable disease. I've seen it. It's something you won't forget.

Anonymous said...

I need to know what type of doctor I need to send my brother to. He has tried numerous doctors and can not get an answer for his mystery illness. He feels really bad after he eats. He has been eating a STRICT glutten free diet for years, but it seems like the foods he can eat without feeling bad are slim to none. He feels really bad after he any type of Protein.His arms are becoming numb,he will sometimes break out in a very bad Psoriasis looking rash.He spends the night with us often because he feels like he is going to die! I have no doubt that there is something wrong with him we just are just tired of hitting road blocks with every doctor he goes to!! In desperate need of advice, what type of doctor or what hospital to get some help. Thank You

Malnwah said...

I have been suffering for 7 years with numbness, tingling and burning in my right leg, fatigue, severe headaches, blurred vision, confusion, cognitive disorder, numbness and tingling on my left hand, black outs or seizures (haven't been determined yet by a physician) and memory loss. I went through batteries of tests and scans. I was diagnosed with osteoarthritis and Chronic Epstein-Barr Virus. In 2008 I had a hard supraclavicular lymph node excised. The results were benign. Since then I am getting much worse. I ended up in the ER recently with severe inflammation in the chest cavity. I couldn't feel any lymph nodes, but it was excruciating pain when the doctor touched me. I had a blood test and it showed elevation a particular area that showed a possible pulmonary embolism. I had a chest x-ray and CT scan and again, normal. I have been seeing a Neurologist for 3 years who has done testing for Multiple Sclerosis, Myasthenia Gravis and Epilepsy. Each test showed unexplained activity not enough for a set diagnosis. I have episodes where I "lose" myself and when I snap out of it, I am confused, shaky and my left hand is tingling. I sometimes smell and and hear things nobody else does and a terrible metallic taste appears. My heart starts to speed up and my daughter says I space out for a few seconds. I don't know if I could have epilepsy or neurogenic vasovagal disorder. I am completely confused because my tests are half assed. For instance, my MG panel showed high striational antibodies, but AChR and MuSK antibodies were normal; my MRI shows a 3mm lesion on the frontal lobe and persistent signal abnormalities with in the brain stem at the level of the pons. I was tested also for Narcolepsy; Lambert-Eaton; Sjogren's; Lupus and had 8 tests for Lyme disease, all were normal. I used to live in south FL and worked for a Law Enforcement agency. I was exposed to many different kinds of people from many different countries. I have had the Hepatitis C vaccine, Tetanus and TB shots up to date. I don't know what to do or where to go. I live in Maine and I am not sure if I should travel to Massachusetts General for an evaluation. I am not living like I want to. I am depressed and on meds for depression. I was forced to retire from my career in 2007 and I am now collecting SSI Disability.

Anonymous said...

My mom has been ill for 15 YEARS it started with a shot a nurse gave her she was allergic to it was on her chart that she was allergic to it but Thats is beside the point now after all these years she is hardly a person any more now being grown an not haveint a mom around I have two boys of my own an want her healthy !!! To be with them she has been seen by some of the most famous well known Dr out their an still nothing only test after test an low this an that an medicines that could take out a herd of elifants. Please someone help her she used to work she used to swim competitively ride horses bareback at that besides all the things she used to do she is now left bed ridden with still no answers an Dr won't see her or put her off an one of the so called best of them is 3 hours away from us an she sits in the office for at least an hour before he gets in their an he does not look at her an only stays for 15 30 min maybe an doesn't listen to anything she says cus hes not their long enough for her to say it anyways she has an auto immune deficiency followed with bad fake hip pain small soars all over the body that take weeks to months to heal an then just scar she can't get out of bed but only to go to the rest room maybe a couple times a day she can't sleep at night a lot but seems to sleep a ton when she does sometimes days on end her labs come back with low this critical low that like potassium vitamin D she has restless legs swollen legs ankles she has gained a lot of weight she used to be only 120 lb for her hights but she hardly eats a thing all day she is on oxygen 24/7 when she does get up she can be sitting in a cold room short sleeves an sweating she's weak she has hair loss she gets Gama every week but skips due to being sick they have increased an decreed it nothing helps she has been on a trial medicine that has cured others like her but did not work on her every afternoon when she wakes she has full body stiffness she can't open her eyes their rolled back in her head she can't even move her hands she is on 2 major pain killers constantly that seem to help I guess but she has been on them so long I belive she has built up a tolerance due to the auto immune they had to take out all her teeth she has allergies to a few things that she didn't use to have she gets migrens often dizziness an nausea those r just few of the symptoms I notice she hasn't givin up but it seems that way when she just takes the same ol thing the Dr says a does for her their may or may not be a cure but their has to be something I try to get her up eating healthy go out side anything to get her out of that room nothing she says she want the help I research read an tell ppl but I can't do it all to me her not doing healthy things for her self is her giving up and I don't know what to do does anyone on here have any ideas ....Thank you in advance M.

Anonymous said...

Hi Doc: I hear what you are saying about finding a diagnosis possibly making a person "feel better" but probably not doing much for them beyond that (especially the more rare and difficult to treat things) but I have to disagree with you or at least "question" this logic on a couple of points...since I do have a "diagnosis X" type thing, I have done a LOT of research of what it "might" be and for example, one thing (if I had it) says to avoid "tylenol" at all costs and on the other hand if I have another possible illness, it says just the OPPOSITE; that being, NOT to take the "other group" of meds...excuse me if I do not know exactly the difference being I am not a doc..but I think they might be more "muscle relaxers / anti-inflammatories. such as Motrin / Alleve and that whole group. My point is, if you do not have the "underlying" cause, you cannot possibly know the "best" possible treatment for your illness and worse, may be harming yourself by taking something you "think" and even docs think might be harmless (and generally helpful) and in 99% of the cases it would be helpful to take that otherwise "innocent" med..or even vitamin but in your case, it is harmful. A GREAT example of this is that I was diagnosed with thal Minor (or so I think..even that could be wrong...might be "intermedia or whatever for all I know) at the age of 14 when hospitalized for infectious mono...told NEVER to worry about it. it is a "symptom free" trait and only if I am planning to have a child with the same trait could there be probs..hahaha..Well, if you look at just about ANY message board on the topic of thal M..everyone with it (and I am way adult now and am "just" reading these now as my symptoms have recently worsened and I am desperate for answers....I am reading person after person saying that their thal M HAS caused them LOTS of health problems and that if there is no pill to fix it, the pharmaceuticals will not finance any research on it to help the millions of sufferers with it..and here is a CLASSIC example of how something "can" get worse without your knowing what you have and possible ramifications...I was anemic for MANY years....so like millions of mentrating women..so no one ever looked at the "underlying cause" or thought anything of it..b/c so what, right? Well, I was put on iron..again, a "seemingly" straightforward harmless little pill that "generally" would help the situation..well if you read up on thal m...being on iron is the LAST thing you want to do as it can apparently cause more harm than good...also, had anyone told me that taking a little dose of say (5mss) of folic acid a day my whole life might have made me feel sooooo much better, my whole qualify of life could have been better..so please Dr. D., consider my case in the future whenever you imply that finding out "your underlying cause" can rarely if ever help your illness out..b/c I am living proof that NOT KNOWING most likely has caused direct harm and also that KNOWING at least about the folic acid could have helped A WHOLE LOT. And I do TOTALLY agree with you about "feeling better" knowing and will go further to say there is something "healing" about KNOWING what is going on in your own body..and if you believe in physics and the concept of Reiki energy and so forth..if say for example you have a breakdown in your neutophils not functioning and being able to process oxygen sufficiently...if you are able to KNOW this, you can then possibly "visualize" your neutophils taking in that oxygen..and this type of "bio-feedback" has been data supported..and even killing your own cancer cells etc. This stuff / bio feedback is highly data supported you know? body and not work against it...have to work with it to stay healthy...just saying

Anonymous said...

Hi: Here is a "good one" for you doc..list of symptoms: to start could have been "blue baby".mom rh neg, me rh pos; was late delivery. forecepts were used; childhood age 0-10: nosebleeds,possible seisures when lying down in bed, bed would spin and shack; sensitive palate if ate spicy or hot food would be sore for weeks; worst was fainting for 1st time age 9 after shoveling snow and often sever ab pain, straining not constipated and watery stools possibly with blood..constant sore throats and swollen glands (no allergies) and could hardly ever breathe..raspy voice..age 10-20, infectious mono 14; diagnosed thal Minor; diagnosed Ulcerative colitis age 15..11 days of watery diahreah, "no infection or parasites found" and bright red mucosa observed, responded VERY well to azulphadine..age 14 diagnosed K planis (bumps on arms and legs); 18 bells palsy; age 19, Hashimotos hypothyr with goiter and high thyr. peroxidase..ALWAYS high..age 20-40 (present)..swollen, receding gums, gum txs to save teeth, endo metriosis with 20 fibroids removed with lots of scaring and large bulky uterous noted..also elevated liver panel off and on...consistent low blood pressure (90/50 till now suddenly 90/130; since childhood high cholesterol and triglycerides despite normal diet lil fried foods..trigyl "were" around 150 or so as high..last labs were 350..was anemic until hysterectomy..consistently do not produce vit d..(and not due to diet..as can be seen with d3 and d4 breakdown), early arthritis, swollen hands, carpel tunnel, neck gets sore inflamed..disc degen, rash all of the sudden persistent (was VERY itchy_ on legs near knee and below...trunk, hands, forearms..very bad scaring, easy brusing, and blood coagulates like someone who takes reuglar meds but I do not..what is this?? ty

Anonymous said...

The only time I got sick as a kid was the flu, once a year. Never even a broken bone. But now.... I'm 23, live active lifestyle with sports, minimal drinking, I chew tobacco often, no other drugs, and I eat better than most people I know. The problem is now I get SICK ALL THE TIME, I always feel dehydrated even though I drink a lot of water. I tried different natural products for that and even glutamine, but it seems like no matter what, water just goes right through me. Every time i stand up i get DIZZY. It seems like i have been very susceptible to things lately: within a couple years i have hemorroids, herpies, blatter disorder where i leak more even way after i'm done using the bathroom, crazy bad migraines that i never had before, bad eyes, bad ears, also I can never get out of bed and I never want to do anything, the list goes on. I have my days, but I'm pretty happy with my life so its not depression. I've had my thyroid levels checked, but they are fine. I am pretty active in staying in shape and eating well, SO MY QUESTION IS... is there possibly a diagnosis or is this just bad genes? or the way i live my life... thank you for your time and support if you get back to me.

Anonymous said...

I have been going through a very hard time trying to figure out what is wrong with me. I just want to know because it would be releiving. I was always told as a kid that i was the girl that cris wolf(but i am not. I am 25 years old. I can barely get out of the bed in the am. I always have nausea, fatige, I have constant pain in my bones and joints. My vision doubles, i can barley walk at times. I have several other issues. Dr ran several tests and found that my ana blood levels are high. I have a high white blood cell count everytime i have a blood test and i have blood in the urine every time i have a urnalisis done. The doctor has not given me a reason on why these things are happening and is telling me i have fibromyalgia. I looked in to this and i dont understand why these tests are coming this way? Fibro wouldnt cause these tests right?

Anonymous said...

I had a "mystery illness" for about a year that turned out to be a very rare but treatable/curable cancer. What irked me was that the doctors simply would not consider a word I said. In fact, I actually mentioned to the main doctor that I was seeing that I thought I might have "X" (which is what it turned out to be...), and he simply waved it away with his hand and said that's "not likely", even though my symptoms matched exactly. An uncle of mine said he figured it out for himself simply by typing my symptoms into Google search! lol I was told again and again and again and again that I simply had anxiety and I needed to relax. Long story short, NO ONE ever ended up diagnosing me. I simply had a sudden severe shortness of breath one day, had my mother take me to the ER, and was diagnosed in a late stage there. I understand that doctors are doctors and patients are patients. However, if you're are trying to figure out someone's illness for a very long time and haven't hit any proper diagnoses, what is the harm in testing a patient for something they have an inkling about? For me, that would have meant earlier diagnosis and thus an earlier stage of cancer. I also noticed that much of how I was treated was due to my age (I was 23). No one took me seriously because they said I was "too young to be so sick." I hope some doctors realize that as depressing as it is, that yes, sometimes even very young patients get very ill at times. It isn't always "anxiety."

Anonymous said...

My Uncle is a diabetic and has almost lost all of his eye sight. He has been to countless doctors and all the tests that can be done, his heart is beating on top normal and bottom uneven. He has lost about 70 lbs, shortness of breath and no doctor can tell us anything.

Anonymous said...

To the anonymous above: I'm not a doctor, but has he been checked for hyperthyroidism and/or Graves Disease? I just read this and saw your response and it made me think of Graves because it runs in my family. It can mess with your heart and make you lose weight and have eye trouble. Blessings to your family.

Scarred said...

Hello everyone -- I have something going on that has not been diagnosed to date. I first went to my doctor in Feb for having a numbing sensation in my perineum but only on the right side. She referred me to an OB/GYN who was also confused. By the time I got to the OB, I had weakness in my quads only but they only hurt when I was standing from a sitting position or going up/down stairs. I was referred to an ortho who sent me for an MRI that was normal. From here on I've been sent everywhere and had many tests from blood tests (all which were neg) to CTs and MRI's with and without contrast and I still don't know what is going on in my body. I first noticed the leg weakness after starting a kickboxing aerobics class (not sure if it's related). I have been under tremendous stress both before and and now even more with this going on and not having treatment except physical therapy. And they only sent me there because I noticed muscle atrophy in my thighs. I've also recently in the last 4 weeks approx., I've notice weakness in my hands/arms. I've recently learned that it's weakness in my forearms becuase I can't even make a fist and I'm losing muscle there too. The only meds they gave me were gabapatin and ibuprofren. It's stressing me out so much because I don't see improvement and they can't give me answers or any treatment to help!! ;(

Anonymous said...

My partner has been ill for just over a year now - he has been in A&E, referred to a heart specialist, a lung specialist, 2 different nurologists and a specialist in the nervous system and been given all sorts of tests. Whenever there is an anomoly in a test result they ignore it - why do they bother doing the test if it is going to show up something then it gets ignoresd? Again, because he isn't elderly and, up until a year ago, was fit and healthy (he was in training for a triathlon when this first happened), they seem to imply that its all in his head. In fact the heart specialist began the consultation with, "I see your doctor thinks it may be stress related. I can give you an ECG if that will help to reassure you. But you might want to think about getting an appointment with a Psychiatrist." He did then make a appointment with a Psychiatrist who admits that she is at a loss as to what to do.
The trouble is that, after a year, his employer is, understandably, losing patience. Because he keeps trying to go into work when he can (averaging 4-8 hours a week) he is not getting SSP just a very minimal wage. He would go mad if he never went out or saw anyone other than me (and so would I probably). But we are increasingly in danger of having our house reposessed as we are pretty much living on my wage alone. And because I work, he can't get benefits. If he has a diagnosis, work would have to make some concessions. As it stands, the only diagnosis work have is that its all in his head.
Also, his GP said that without a diagnosis it would be "immoral" to treat symptoms.

Anonymous said...

How can anyone imagine that having an undiagnosed mystery illness is okay in any way? My partner hashad many tests in the past 18 months and has now been told that there is nothing wrong with him. Yet he can barely get out of bed most days. Because work got a report from the doctor saying that there was nothing wrong, he is now on a warning. We have had to put our house up for sale now before it gets taken from us. Unfortunately, the house is quite a mess because I am having to work two jobs and he cannot summon the energy to do housework. I am being ground into the dirt because of his undiagnosed illness. It also means that we can't plan anything. We can't go away for a weekend, we can't have friends over for dinner, we certainly couldn't book a holiday.
Before this truck, we were a happy, energetic, sporty and fun loving couple. Our hobbies included scuba diving, hiking, sailing and travel. None of those things are possible right now. At least with a diagnosis we could decide to sell the expensive scuba equipment if it looks like he'll never get better. The limbo that we are left in is causing me to become depressed and I'm sure that isn't helping him.

DianeRosolen said...

Why can't any Doctors find out what is wrong with my Sister? Where in NY can she go to find out what mysterious disease she has?

I hope to hear back from someone as quickly as possible, her pain is through the roof now.

Thank you,


Anonymous said...

I have fever chills some times my heart rate goes up and I have lower right quadrant pain sometimes, about an 1 1/2 from my belly button sure sounds like Medical school 101 right? Infection!!!That is what most people would think think. Well I had colonscopy , endoscopy ultra sound, cat scan blood barium swallow with follow through full blood work up lymes disease check , h pylori, anemia check, std check malabsorption check. I'm dairy and gluten free
So this is what I think Chronic appendicitis that releases poison into the system raising the vitals making you sick now imagine a low grade sepsis that is what I have it is like your life is hanging by a thread Another thing that goes undetected in western medicine! Ten months of this has made me really on edge, lucky I only work 2-3 days a month. Because I have no idea how I could work any more, everyday is unpredictable I know it is chronic appendicitis and I'm going to have the independent lab (runs any test you request without a dr order) blood culture and grow it to look for infection See I'm building a case to prove to my dr that I have a blood infection that is being caused by chronic appendicitis and I have one more GI Specialist to see before to see if had some new innovative way to detect chronic appendicitis. Done waiting I have hired four doctors, and I will see who can come up with an actual diagnosis I hope soon before I die from this !

Anonymous said...

15 years and still no diagnosis.....heartburn, throwing up, phlem. Calif, Boston, Raleigh, Yale, still no one can figure out whats wrong. Closest was possible Migrane of the stomach. No headache but headache receptor in stomach. that doctor left, and no one has figured it out. All tests over and over and over until so disgusted don't want to even go get anything done. Gets so bad I throw up clots of blood, dehydrate get admitted to hospital, they can't get the throwing up to stop until it's ready to. Had all kinds of medicine, nothing works. Anyone have any suggestions, ready to just throw in the towel from being sick. Can't hold job, comes and goes with no reason. HELP!!!

Anonymous said...

Scarred. Try getting some tests by a rheumatologist. I have poly myosotis where the immune system attacks muscle tissue. Causes lots of weakness but can go into remission too. There are other types of myosotis. An MRI wont reveal it. Just a thought.

Anonymous said...

I feel like I have the flu every day of my life. I've had severe fatigue (lethargy) since I was in middle school and got a swollen lymph node behind my ear (that still hasn't gone away and is now joined by two more on my neck). My parents took me to the doctor and I was told I had mono and I'd feel better in about a month. I never felt better. My parents told me I was lazy and just trying to get out of doing chores. I never slept, so they said that's why I was tired and I needed to stop being so darn lazy. Once I got out on my own, I started seeking help from doctors on my own. When I go to doctors, all of my blood work is normal except for elevated EBV titers which they tell me only show I've had a past infection. No elevated sed rate or white count despite the apparently permanently swollen lymph nodes. They then assume I am depressed. I'm NOT depressed. I'm extremely frustrated that I feel ill every single day of my life and exercising or having any fun at all makes it worse. I've got a great life and I don't feel good enough to live it. Frustration, not depression. If I felt better, I'd be the happiest person on earth. And I feel scared. I know there's something seriously wrong with me because it's not normal to feel like you have the full-on flu, but it's apparently a "mystery illness" and it's making day-to-day life almost impossible, but I have no choice. So, doctors say I'm depressed and try to put me on antidepressants and that's the end of it. They refuse to refer me to specialists or to do any further workup. I even took the antidepressants for a while to appease them, especially since they were trying so hard to talk me into a diagnosis of depression that I was even starting to believe them. The antidepressants made me feel SO much worse. Never again. I know it's not depression. I had one doctor that said I might have Lyme disease and tried to get me into an infectious disease specialist, but they refused to see me because they don't treat Lyme's. How in the world do you go about getting yourself to see a specialist when I can't get into one without a referral or when specialists won't see you without a valid lab or diagnostic test to give them a reason to? I'm in absolute misery and I don't know what to do or where to turn. My husband and I didn't even bother to take a honeymoon because I'm too tired to walk around and enjoy anything. I can only handle about a half an hour of just walking before I have go go lay down because my fatigue becomes so overwhelming I can't keep myself upright. Advice to where I can turn would be greatly appreciated.

dana sick of this said...

i would like a dr to figure out whats wrong with me...all my test results come back normal but something is wrong! its very upsetting when you need relieve and want to feel normal again. I really dislike it when they think its all in my head...so my head just magically decided to make me sick a year ago?!?!?!

Anonymous said...

Annon, July 24.......find a GP who will put you on the DOxy or Tetracyclin regime for Lyme,,,,,,,,all tests don't always show Lyme, I was one, I live near Lyme, CT and never had a positive titer test, but my doc decided I knew my body and put me on the extended antibiotic and it did the trick,,,,,I think it was 18-20 days on high dose. That was 10 years ago, but I'll never forget the feeling. Just what you are experiencing!!!! Hope it works for you!!

Anonymous said...

Ever consider dystonia?

Anonymous said...

If I wasn't in pain and in the ER 2-3 times a year because of my "mystery illness," I might find comfort in having every single test (so far) come back negative. But, I hurt. I hurt. I just want it to stop. That is not comforting. I realize that I may never find an answer and I'm not sure I can live like that.

Anonymous said...

I had a really strange problem with my muscles where they would lock up if I tried to move suddenly, go up stairs, and walk after standing up from a sitting position. I complained about this from the ages of 10 to 17 and my doctors would usually just shrug and brush it off. Occasionally they would do a few tests which would always come back fine. One day I fell and everything locked up and nearly cracked my head open. My dad started reading a bunch of medical books and eventually found a rare disorder called Myotonia Congenita to which my symptoms matched the description. The myotonia was ridiculously easy to confirm with a quick visit to the neurologist and an EMG, and genetic testing confirmed it to be Myotonia Congenita a few years later. I later got a hold of my medical records from when I was a kid and was surprised that one doctor described what I was experiencing as my joints hurting. I never said any such thing! I always said "my muscles lock up and I can't relax them".

I never understood why I wasn't just referred to a neurologist from the beginning....HMOs I guess.

I'm grateful beyond words that I finally got an accurate diagnosis but not before I developed a fear that doctors would think I'm a hypochondriac. Now, I absolutely hate going to the doctors before I have an idea of what I might have, so they don't do the wrong tests and make me feel like I'm just imagining it.

Anonymous said...

I have severe pain when sitting underneath between my vagina and inside my labia and sometimes back to my rectum. I feel like my entire body weight is pressing down. Sometimes I get a burning iside on the left. I've had so many tests and Drs. No one can find anything. I feel like something is pressing from inside. I'm so frustrated. I can't enjoy anything. When I go out and see a hard chair I panic. Hurts to sit in car and drive. Does anyone havw my symptoms? This has been going on for almost 3 years. Was prescribed amnitryptline. Still have symptoms.

kelsie.griggs said...

After the doctor called it bizarre and that he had never never never never seen this in 15 years of practice it can cause you to feel quite weird and uncomfortable. After tests and doctors they still are unable to diagnose this lump in my neck. The US results said hypoechoic nodules and the CT scan said enlarged parotid gland and maxillary sinus disease and yet doctors just tell me things are normal and they still have no clue what the lump is because that lump wont show up on imaging. If this is the case what is showing up on imaging? Why am I being told this is normal? How can my tests be normal but this lump is far from normal? thank you for giving me the idea of working on living instead of worrying about diagnosis. It makes it hard to figure out treatments without diagnosis but I have felt this whole diagnostic bit has just wasted time. Thank you for helping me understand the diagnosis process better as well.

Anonymous said...

im so fucked , so fucked, sorrry for my language i am a 23 yr ol male had a mystery disease since 18, lost 80 pounds and barely alive. losing a pound a day now. wont last long. your all luckky some of you have found some answers and comfort. its imprtant to know not all do, and i have had about 15 " throughogh workups " in my shity life from the best institutions in the WORLD. sometimes , well, you fucked. good luck all yall, peace cruel world.

Anonymous said...

Ok to start things off I will tell you what I use to be like. Exactly one year ago I was in college playing volleyball. I was 5foot 10 and weighed 160. I was full of energy and didn't have to sleep more than 7 hours a night. Last september I was hospitalized for ecoli in my kidneys. After getting out of the hospital I started sleeping 12 to 15 hours a night and couldn't attend classes because of fatigue. Withing 2 months of leaving school I got up to weighing 220 lbs. I didn't eat a lot I actually ate less then normal. I went to the doctor and they did thyroid test and said it was to high. They put me on medacine but the medacine made me sick when I took it however I couldn't remember to take it my dad threatened to kick me out of the house if I didn't take and I still would only remember once a week. I stopped taking it about a month into it. So I decided to get a new doctor and he redid the blood work and said my thyroid was fine but didn't know how. So now he had me give him a list of symptoms- excessive sleeping 12 to 15 hrs a night, always tired. A complete grouch, mentally tired.bad memory, shortness of breath, muscle weakness, depression, and excessive weight gain. What could this be?

robin smallwood said...

Dr. D, im currently in a very frustrating state. I have bk problems and interstitial cystitis. But ive been suffering from joint pain, swelling , body aches, extreme bk pain, sores on my head, face, body and mouth and nose. My urine is highly concentrated even tho I drink plenty of water and when it gets concentrated I begin passing blood. Clots in my urine very small but sometimes 10 at a time. Ive seen 4 different drs and still no answers. Everyone does the basic screening labs and ive tested neg for lupus and other things. I need a dr that cares enough 2 find answers and help me. Im tired of hurting and sick all the time. Plsss help

Anonymous said...

I have been in physical pain for almost two years now. I have mid abdominal pain in my lower right side (kidney area) and all blood work and ct / xrays show nothing. I am a very active runner and don't know how to deal with my misery although I keep going day after day in pain and routine hoping it will eventually go away. I don't know what time do anymore. Any suggestions??

martina said...

I have been diagnosed by a neurologist with vestibular migraines and all the symptoms seem to coincide with what I'm experiencing. However, I feel the neurologist diagnosed me too quickly (after 5 minutes of looking at my MRI results and a 15 page questionaire he flipped through in less than a minute.) He prescribed me medication (verapimil) knowing I already have low blood pressure and that this medication lowers it too. I was unhappy about that and also frustrated that all my blood results, the MRI, movement and eye testing, hearing testing, and checkups with an ENT a couple times. I am worried he diagnosed me with vestibular migraines simply because it was something he was familiar with. How can I know for sure if he diagnosed me correctly or if it is another disease with the same symptoms. They have been getting worse and more frequent to the point I have been to the ER. If you could shed some light on what I should do I would really appreciate it.

DianeRosolen said...

in reply to what martina said...
my Daughter suffered from migraines for years, had seen just about every neurologist, Dr. in our county...long story short, she had Chiari malformation, so have your Dr. get you an MRI & possibly a cat scan of your c-spine. She is now cured and has NOT suffered a headache since they corrected the chiari malformation...in fact, google Chiari malformation for your own research. I hope this helps.

Anonymous said...

I have had chronic pelvic floor pain for 5 months. No Dr has actually diagnosed me. They are sayinng it could be Fibromygia. It hurts to sit,walk and stand. The only time I don't hurt is when I lay down and there is no pressure on my bottom. The pain is dull aching and has pressure feeling thats why it hurts to stand and walk. Sitting down I have to lean to the right to try to relieve pressue. I cannot wear jeans because that adds more pressure. I cannot even cross my legs. Pushing a grocery basket is almost unbearable. I have to try to get someone to go with me to push the cart. It hurts to drive. Sometimes I have to put my LT leg up in the seat or on the dashboard to get some releif. The pain sometimes just takes my breath away. This is so frustrating. My urologist is trying everything he can to give me pain relief. He has tried steroid injections and lidocaine injections but that is only temporary relief, 2 to 6 hours at the least. I am so frustrated. I had to quit work. I just want my life back. It gets very hard to live in chronic pain everyday. Been to several pain specialist but they say they can't help me because the pain isn't related to my back. Where in the world is there Dr that that takes care of the pelvic floor area. Desparate for answers.

Anonymous said...

although its easier for drs. to give u comfort of not having a serious illness, symptoms drive people crazy.. drs. dont live with this, so they do not understand the disability of feeling so terrible... i suffer from severe muscle stiffness, vision not right, loss of balance, weak legs, inflammation in spine. ect. i do have lung cancer but had lobectomy an it was in lymph nodes dr. removed them also..i have autonomic nervous system failure, such as unstable blood pressure an heart races, and any movement of body cause loss of balance ect. can this be paraneoplastic syndrome. due to stage 3 lung cancer. 2 yrs. ago... been everywhere an many test, an getting worse..... dr. says not going to do anymore, it looks like anxiety to them i know it is not, i didnt do chemo or radiation due to sensitivity to medications. HELP.... BODY MALFUNTIONING AN NO ONE KNOWS WHAT TO DO... so drs. can say its not serious, it is for the patient , we cannot live a normal life. not going anywhere for 12 yrs. other than close to home due to symptoms .

Anonymous said...

It took 10 years to finally get a diagnosis of Multiple Sclerosis but now I have something else going on and they haven't figured that one out yet either but I'm learning towards a Lupus diagnosis. So yeah, that's 2 bad ones :(

Anonymous said...

i had restless legs what can i do?

Anonymous said...

I'm a 23 year old and I've been having chronic pain and numbness for 4 years now.The pain and numbness is in my left leg from my knee down,left arm and shoulder, back, left side of my face,left foot/toes and I also get pain and pressure in the back of my head witch turns into a headache and also makes me nauseous.The pains very from sharp,burning, to throbbing. The numbness is also in those places at random times, mostly at night. The numbness and pain becomes worse with any activity. Also with activity the muscles in my shoulders become very tight. All these symptoms give me limited use with the left side of my body.

Anonymous said...

My brother has the strangest thing and he has gone from doctor to doctor trying to get a diagnosis. His face has swollen so bad this forehead is over his eyebrows. He is exhausted and has lost weight. Hives and welts have also appeared on his face. Has any one have any idea what this could be? He has countless blood work done, it is not an infection or allergies. What else can it be? Any thoughts or suggestions would greatly be appreciated.

Anonymous said...

I am thirty years old severely disabled and deformed. Face is profoundly deformed so that I do not even look like a human being. Also stopped growing at under five feet. We've been seeking a diagnosis for about 15 years now and although many abnormalities have been found in me there is no diagnosis. Some of us might be born with conditions so rare that there is no name for what we have. I have had many doctors but very few competent ones.

Anonymous said...

Hi Dr. D I have a problem for over the past 3-5 years my mom has went from a healthy 140lbs down to a devistating 73lbs. The doctors have done every test they could and nothing. She ests but does not retain yhe calories. She has gotten COPD AND INFECTIONS in her lungs from who knows where she has never smoked or drink. We are at our wits end and it seems as if my mom has list hope and tired if being poked and probed x-rayed you nsme they have done it. She was placed in MICU for 2weeks because she just became to week to continue to breathe on her own and she stopped we almost lost her (not ready for that). When they got her back she didn't remember when she dosed off and this has happened twice now and still no resultsor answers. My family we need help and answers what could this be and if she is eating why is she not gaining and retaining sny weight. She has no strength or energy and gets winded very easily. She is 65 any help would be greatly appreciated.

Anonymous said...

For about 10 years i have suffered with feeling weak headache and tiredness, had many blood tests but nothing shows up.
Yes the doctor looks at me like its all in my head which is frustrating as im feeling the pain. Now ive noticed my eyes hurt more and go out of focus. Think this is migraine but feels more all over like it is blood related.

Anonymous said...

I've lived with an undiagnosed illness half of my life, I am now so incapacitated I can't work, some weeks I can't look after myself (and there is no one and nothing to help so I go without), a family member died young from the same thing and they couldn't even diagnose him at autopsy. I appreciate wanting to offer some way forward but try getting disability, rebates on tests and consult fees or access to care and services without a diagnosis. Try getting another doctor, or even a friend, to take you seriously, it needs a name before it is even on anyone elses radar.

Anonymous said...

I almost feel kind of crazy. The doctor said everything is fine but many test have not been taken and I cant go to the doctors much due to the cost of going. I feel the symptoms starting to take over my life and instead of ignoring them they slow me down. Im not sure what to do.

Anonymous said...

Not true that previously healthy people with undiagnosable illnesses don't die - my beautiful brave, energetic, and vibrant friend passed away two years ago, much too young, leaving behind a husband and three small children, after suffering from an undiagnosable, untreatable, aggressive neurological disorder for five years. By the end she could not walk or hear, could barely talk, and had difficulty breathing. Despite zillions of tests and the involvement of numerous high level specialists, we still do not know what caused her illness and death, nor whether there is any chance that it may have been passed on to her kids.

Anonymous said...

Hi, I am a 37 year old woman, Mother of 3. I am desperate for help! I have been going back and forth to the doctors now for 1 year with lots of health problems, tummy swelling and bad depression, but most of all with rapid weight gain to the point I don't look like me anymore. The doctor can see there is something wrong with me but has sent me for so many tests and coming up with nothing. I just stepped on the scales and have gain another half a stone in 2 weeks even though I just had to do a diet for a few days and completely be cleansed for a colonoscopy and gastro copy which I had on Monday, so you would of thought I would of dropped a few pounds, not gained even more. It’s painful to say this but I've now gained 5 stone in a year and I have to get a new pair of jeans every few weeks and some big baggy t shirts. I don't want to be seen like this. Last summer I was in a size 12 and my ideal weight and no w I am struggling to fasten an 18. What is wrong? I’ve changed nothing in my diet but do less exercise due to me being unwell with back ache and headaches all the time. I’ve come off all meds in case that’s doing it but I’m still gaining. I look repulsive and I can’t stop it. What shell I do? I feel so unwell and don’t know what to do. My mum went back and forth to the doctors for a few years, in the end some of them said it was in her head but it ended in death and then they said sorry.

Anonymous said...

I feel that this comment "The other good news: We don't always need a diagnosis to treat your symptoms." is a dangerous one. For the last 15 years I have had various serious symptoms and not so serious ones. For each one I was "helped", for bradycardia I received a pacemaker, for carpal tunnel I had surgery on each wrist, for thyroid nodules I had half removed, for each of the following I had pills prescribed or even just a shoulder shrug: high blood pressure, diabetes, incontinence, foot pain, cognitive issues, a multitude of severe back issues, etc.

Before all this I was perfectly healthy, rarely saw a doctor. I always asked each of these highly intelligent and accomplished specialists what was the cause of that particular problem but never received answers. They were always vague. It seems no one looked at the whole picture including my PCP. My PCP left the practice so I had a new Dr. and, on my first visit, my new doctor's PA diagnosed me with elevated growth hormone caused by a pituitary tumor which had been undiagnosed for at least 15 years and has wreaked havoc on my body. With an earlier diagnosis I would not have had to have the carpal tunnel surgery, the pacemaker, the thyroid surgery, etc. With tumor removal some symptoms will be immediately relieved but much permanent damage is done to heart, lungs, bones. So even though I had wonderful care for each of my separate symptoms, not having the diagnosis for the cause has shortened my life and lowered my quality of life.
I say, be relentless in asking about the real cause of your symptoms don't just let them "take it out" and it's better, or "put in a pacemaker", and it's better, meanwhile the reason for all the problems is still in there causing ill health.
My question is, How do I let my former PCP know about the missed diagnosis? I feel he/she needs to be made aware of this difficult to diagnose tumor so this will not happen to another patient.

Anonymous said...

My friend has been sick for approximately four years. She has had a pain in her abdomen area that goes to her back too. She has lost a significant amount of weight as well. She is suffering from nausea and has multiple feeding tubes in her stomach. She hasn't been able to eat thru her mouth for months and now she is losing control of her bowels. No doctors have been able to tell her anything. Please help me out

Anonymous said...

My daughter has been sick for 2 weeks with accute abdo pain lower right side.
She also has nausea dizziness. The doctors have done bloods urine ultrasound and x-ray and that's it no more tests they just said we don't know what it is and the tests do far are normal so its no use doing more. They said she needed to see a psychiatrist. She is still in hospital just being medicated for pain. Im sure there is more tests they could be doing.

Anonymous said...

I have been ill for some time now. My doctor couldn't find anything wrong. Then I got a malar rash on my face and a positive ANA. My doctor told me I have lupus and started me on Plaquinel and sent me to see a Rhem who will not give the a Lupus dx, but tells me to take the Plaquinel. I am confused as to why if I don't have Lupus I am being treated for it. Also, the Rhem isn't testing me for anything else. If it isn't Lupus then what acts like Lupus but isn't?

rebecca250 said...

A very sensible approach! I like doctors that are pessimistic enough to consider the unusual things. Also ones that listen carefully and believe what the patient says about himself/herself and about children. I also like doctors who are humble, creative, and willing to talk to other doctors to make a team effort of putting two and two together. A doctor needs to be part sleuth and get excited about the "hunt."! I'm an analytical person and as a patient, I take very seriously the sleuthing part of my own medical care. I often find the disease myself before arriving at the dr's office. That is not my goal, of course, and I remain very humble, because any doctor knows more than I do about millions of things. However, I'm the one that cares most about my own health and I can dip in and out of all the specialist's literature to try to tie the ends together - which most doctors frankly don't have the time to do. The internet, when well-used is a marvelous tool also, because patients can share practical ways of living with certain diseases and side effects. I find some of the teaching hospitals are very good about putting good heads together - doctors who bring your body back together by talking to one another about your case IN THE SAME ROOM, FACE TO FACE. I know this isn't always possible, but it is fabulous when it can happen. In our family, we've had ITP in a nine year old, deafness, adult fibrosarcoma in a 2 yr. old, bladder cancer, a cancerous growth in the iris, prostate cancer, effects from an antibiotic that caused damage to tendons, amnionic bands causing the death of a newborn, and a rare lung disease that usually affects only people with AIDS. So we seem to specialize in some of the rarer things! I'm glad when a doctor is willing to look at the worst and work backward from there!

Anonymous said...

I have been having severe abdominal pain and nausea since March. I have had every test known to mankind and have seen 2 doctors (specialists) for the problem but neither can come up with an answer for me. In the meantime I suffer daily and mostly nightly with this horrible pain and sickness. Can't figure out why they don't know what it is but they keep prescribing medications that don't help.

Kevin O'Connor said...

I am a 42 year old White Male 6' tall 173lbs (was 195lbs) About 2 years ago after hurting my back I noticed a small lump (About the size of a Quarter)on the right side of my belly button.
I did not go to a doctor for 3 reasons I had no pain, no insurance and we were running very low on money. About a year later the lump had doubled in size.
It hurt (feels like a pinching) when I picked up anything (like a pencil) from the ground.
My first doctor at RMC medical Orangeburg took an xray & said it was constipation.
My second doctor at Walterboro adult & pediatric said it may be cancer
I went to MUSC (Medical University of Carolina) in Charleston were they took a CAT Scan & did some blood work. They informed me that there were no signs of cancer
I then went to (my current doctor) Dr. Durst (at MUSC) he believed it was a torn muscle.
After about 8 months he now believed it was a Hernia
I was sent to Dr Parker (a surgeon) at Roper (in Charleston) he found no Hernia
an MRI of the area was done which showed no Hernia or torn Muscle.

as of now I still have no diagnosis

I still have: Stomach Swelling
Stomach Pain
Pain at the rectum (which i believe is radiating from the swelling)
Flat Stool when the swelling is large. (if the swelling is reduced from bedrest the stool becomes larger and more round)
a belly button that is slanted (like it had a stroke)
and Back Pain

karlyn houcek said...

Okay...my Mom has the following:

fever...blood drawn while 40,000 fever normal 10,000
cultures, x-rays, ultrasound of kidney..checked for malaria, lupus...all normal

fever usually starts early afternoon..joint muscle pain and ache by 8 or 9 p.m..99-100 fever..middle of night 101, then it breaks all by itself by early am 5,6,7..then she perspires like crazy
lower abdominal ache, that radiates to her back....pressure like she has 10 lbs inside of her...bloating but not...almost like nerve pain...small electrical shock going through her body...it's numbing
only happens when she has fever...ache first, then fever. can't be on her feet....feels like her knees can't hold her up.... chills...happens about every 10 days or 2 weeks..fever for 3 to 4 days. losing weight...

We need help with this...its been going on for awhile now. Recent update is that she was on an antibiotic which postponed the fevers and as soon as the antibiotic was finished, it came back within 2 days.

Connie Walsh said...

I read through most the comments from people looking for answers, and it seems to me that all these people are desperate. Many are not being treated for symptoms, almost all are told it's in their head, and it is beyond frustrating that they have all been relegated to limbo.

My brother had weight loss, pain in abdomen, and major diarrhea. He was diagnosed with IBS, gerd, and diabetes. It was pancreatic cancer. They said the tumour was never clear on the scans. So yeah, sometimes the mystery diagnosis can kill you. Now I have the same symptoms. I am pushing the doctors to investigate the cyst on my pancreas but they claim it is too small to cause problems. It is frustrating when doctors don't follow best practices in the medical community.

Anonymous said...

i have had numerous drs. an numerous tests all neg. i do have lung cancer in remission ,,,i suffer from vertigo, spinal inflammation causing problems with vision walking, spasms weakness in legs an disoriented an headaches ect. severe stiffness in back . i am sensitive to medications. i cant tolerate most. . i am so bad for 12 yrs i have not been living normal i have not been out of my local area in 12 yrs. my quality of life is not good.

Brittany Miller said...

Hi. I came across this site while looking for answers for both me and my mom. About 9 years ago I started having numbness and pain in my arms, hands, and neck. After a boat-load of tests all they found was a bulging disc in my lower back. But according to that uncaring doctor it was just a "little bulging disc" that obviously didn't require pain medicine. He gave me Gabapentin but I was taking like 10 of them a day (yes, that was how he prescribed them) and that still wasn't helping so I stopped seeing him and stopped taking the meds. I've delt with the pain since then.

But then a couple of years ago I started to have severe pain in the right side of my face. Doctors thought it was due to sinus trouble (because I do have terrible sinus problems). But after two sinus surgeries and still no relief my doc sent me to a neurologist who has ran tests but still doesn't know what's wrong.
He prescribed Lyrica which helps alot but I still have to take tylenol and advil every 4-5 hours or I'm back in extreme pain.
Another weird thing about it is the pain gets worse if I lay on my right side. I have no clue how that fits into the mix! If I have to, I can deal with the pain my hands and arms but this pain in my face... I need a solution.

And my mom survived a severe MRSA infection in her leg but she has some kind of growth on her foot. They've taken samples and tested the area but can't find what's wrong. She's had this for 5 years or so and no one knows what's wrong. She puts antibiotic ointment on it every night and wraps it up which softens the skin but then it dries and cracks when she unwraps it. Her leg and foot swell if she doesn't keep it propted up and her leg is almost always red and swollen. Antibiotics calm that down but never get rid of it.

Emily Morrill said...

My husband suffered for a whole YEAR, seeing countless doctors and getting many tests done only for the results to come back normal. He feared the doctors were thinking it was all in his head, but it wasn't and they didn't watch him suffer the way I did. NOT KNOWING what was wrong with him was the WORST part about it!
Finally, Just a random trip to the dermatologist to get a biopsy of a red mark on his skin (which he has many throughout his body) determined what was wrong with him. The diagnosis: Mastocytosis, or also known as Mast Cell Activation Disorder. This autoimmune disorder is SO rare that no doctors in our town of 60,000 knew a thing about it! Thankfully for us we were close to the Mayo Clinic in Scottsdale, AZ and they were the ones to help get my husband on the right meds (which are A LOT!) and give him more answers about the disorder. We were SO relieved to KNOW what it was and once we did, we could then work on how to manage it. There is no cure....but we can always hope that someday, there will be.

Anonymous said...

Hi There I have been trying for 18 months to find out what is wrong with me. Two months ago I was told I had sero negative RA and started on immunosupressants and then when I went back a week ago after an MRI I magically don't any more. So I am back to square one and have to start all over again. He admits he has no idea what is wrong with me and they keep alluding that it is all in my mind now. wants me to take antidepressanst but I am sorry I am not depressed and it will not fix the swelling, pain or fatigue. aghhh I have high CRP, ESR and calcium levels, NASH from adverse reactions to medications, low ferritin levels, pain and swelling in a lot of my joints, fatigued beyond belief as the months go on and on and on it goes. I am so frustrated and now I fear I will be fobbed off as they have no idea what is wrong with me. I work full time but it is getting harder and harder as the months roll on in to years.

Trisha said...

No, actually there is no profit in cures. There's only profit in illness, postponed death for longer treatment, and drawn out suffering. Drug companies own medicine, hospitals, medical EDUCATION, the chemical they put in your food, GMOs.. They are one and the same group. Your doctor was educated by people who aim to keep you sick for as long as they can for profit. Pharmasiticals. They use to take an oath to cure illness now that oath has changed from CURE to TREAT illness. Don't believe me look it up.

Anonymous said...

I have been sufuring for last 6 months ,it started. with geting a strep trought that tienes in to tonsilutis witch gave me a whole crazy kind of symotoms my body lockes up my face hurts and I feel sick my body ichys all over and doctors says its all nyour head you are depresent it makes me so mad

Anonymous said...

Have a friend whose reproductive system just died and now her thyroid has died also within the space of just over a year. Was told adrenal system could go next o=so watching very closely and specialists trying to diagnose--apparently no known diseases that match. Any input?

Anonymous said...

I have weird symptoms, have been to numerous doctors and walk out with expensive prescriptions.

My stomach - left side feels like a virus in it all the
time and it makes me feel so sick on that side. I also have pain in my lower abdomen, and a severe case of nervousness that comes and goes during the day and at night too. I sometimes wake up with it: I've been told I have anxiety, acid reflux, irritable bowel because I have constipation and feel like I have to go but can't, and the doctors humor me and tell me it's because my husband passed away. Yes, I was stressed and still am and grieving about him dying; however, I know this mysterious feeling, etc., are not from that. I had a lot of stress when he was sick and dying, and none of these symptoms. The docs say it is post traumatic stress syndrome and I should go out more. I feel too lousy to go out--only go to store for food, to bank, po to mail things, and that's it--I;m too sick to go anywhere. It drains me, and I am fed up with all the tests, and no answers. This is making me have thoughts of ending my life because I can't go on like this. I hate life, I hate this feeling, and I hate the doctors who don't give a damn about me or anyone they can't diagnose. They went to school, but they know nothing.

Anonymous said...

Hey, docs, get with it--if you or your wife or child were not diagnosed and you had to see them suffer, you'd damn work harder to find out what it is.

Anonymous said...

I really did not find this helpful, in fact I found it awful. I am suffering with mystery illness (and have been for a year) at just 17 years old. Im working from home on my Alevels as I'm not fit to be in school, I can hardly get out of the house most days and when I do manage it it's only for very short periods of time. The only thing that keeps me going is the idea of getting better and the possibility of going to uni. If I didn't have the idea that they'll find out what's wrong, I wouldn't be here today.
The idea that a doctor will eventually say to me 'you'll just have to live with it' is disturbing, and frankly I wouldn't take it. The truth is that I'm at a stage where I'm either going to get better because of a diagnosis and treatment or end it all. Might sound dramatic but it'd be easier than living like this for another 70years. Posts like this just aren't helpful at all.

Anonymous said...

Hi, I'm glad things worked out for you. I just have a couple of of questions. What exactly hurt n how old are/ were u at the time?

Anonymous said...

Hi, Ive had bad abdominal pain and distention for 1 year now. It has gotten so bad that it now looks like I'm 5 months pregnant and it also hurts to stand up and walk. The only time the pain goes away is when I menstruate and for five day following menstruation. I have only gotten my period 3 times this year. I have tried modifying my diet and it does not make a difference. I've taken hormones and birth control which don't help. I've also gotten MRIs, CT scans, ultra sounds and a colonoscopy all showing nothing. The pain and distention are becoming unbearable.

Anonymous said...

My doctor never had a clue what was going on with me. They stuck me on different medications guessing that it would help me but they never did a THING!

A friend recommended Dr. Ben Gonzalez in silver spring, MD and he found out that I had a fibroid the size of a grapefruit! No other doctor even got close!

He wrote an article about what happens when doctors don’t know whats wrong.


Might help you a little:o)

Anonymous said...

My bf has been sick for months lost weight can hold down food lots of visits to bathroom all kinds of tests. No results. No energy no sex drive. Not sure whats wrong. Tell me about ur boys pkz. Thx. Lisa

Crystal Williams said...

I am begging for help for my mother. she just turned 57 and has been unable to walk for 5 years now and has been completely bed ridden for the past year. NO one I mean no one seems to be able to help and she just suffers. She was diagnosed with Reiter syndrome 32 years ago. but now the doc's are saying that is no longer the problem. But cant say what it is ton of diagnosis have been thrown at us. she has unrelenting pain. Especial in her hips the pain is head to toe with skin is sensitive. she is on a buffet of meds. They have tried everything from epidural injection that didn't help at all, to IV infusions for RA she is allergic to the infusions but they did not help anyway. there is so much more I can say about her and her illness. we just need help there has got to be a way to get her back on her feet or at least with out pain. she has no quality of life.

Anonymous said...

OK, I'll ask you doctor? I have been told by one of the doctors I have seen the same things you have said in your blog here.
I will make this short. I had a high IQ and worked everyday trying to get as much as I could get in a day.
After a move in which I did most of the heavy stuff. My arms and hands started to stop working the way my brain wanted them too. Then pain in my elbows. Then massive fatigue and muscle and joint pain. Bedridden with bad dreams waking up every 30-50 minutes. I had weird rahes come and go at least twice a week. Brain function went to roaming around the house trying to remember what I was going to in the room I was in the going back to the room I was in to remind myself and then once again forgetting what I was doing. Just going back and fourth all day and forgetting what I did the day before or the hour even minutes before. Fevers. One rash came all over my body within minutes. Emergency room tested for meningitis with a nope. Did that enough times where I refused to go again. Doctors and doctors and Mri's and all to no avail. After 2 years my wife thought Lyme though I am on the west coast. Doctor tested and it was positive. Sent me to infectious disease guy he did the other test and it too was positive. Picc line for 4 weeks. Back to normal within 3 weeks. 4-5 months later back to where I was all with a 100 to 101 fever. ID doc said CDC guidelines say don't treat again, and he would not. Went to a lot more doc's for close to 2 more years. A Lyme doctor had me on a bunch of antibiotics and supplements. I got a little better then way worse. Really sick for almost 2 years again and was close to dying and so ready for it when my father and stepmother stepped in and found another Lyme doctor and he put another picc line in me. after 5 months I started to get better. Close to death after a year and a half when I went to urgent care and they did a culture staph grew that evening and they hospitalized me for a week with vancomyicin.(sp?) Felt a lot better than I did before. A couple years later to today and I got better for awhile, nothing to write home about and then worse. 2 weeks ago with fevers and cognitive issues I have my buddy the picc line in me once again. I just turned 50. Have been sick for 7 years now. I told my wife who used to work for me but now had to get a job so she could provide myself and our family health insurance that if I don't get better I will go to the Mayo clinic or somewhere like that. UW is the closest university, but they won't touch Lyme. I keep telling my doctors that maybe I don't have Lyme. Since both all three test only show antibodies of the disease maybe I have some other autoimmune disease that is triggering them to work for me.
Desperately sincere Dude

Anonymous said...

If there is anyone at all out there that can help me figure out what is going i.e. worn my body please please please don't hesitate to comment on my post for the sake of my 3 beautiful children.
It all started after a severe allergic reaction to an antibiotic which was the 7th trikes on me over a period of 12weeks, now I have vision problems my head feels full and heavy all the time along with aching from my spine through to chest neck jaw nose eyes and skull. I feel as though i'm floating most of the time very forgetful disorientated nauseous out of breathe and sometimes even unbalanced. We as individuals all know our body and know when we don't feel rite in saying that my symptoms have been ongoing for 9 weeks now and like all of you undiagnosed i'm at my Wots end and would really like some help in figuring out what is wrong. Thanks you for the chance to share my story and I hope I get some answers. :(

Anonymous said...

I have a mysterious illness.. Here is my story.. Five years ago, my daughter was a year old. I started to lose weight. I went from 130lbs to 90lbs. I went to my general practitioner who simply dismissed it as anything serious and said it was probably stress causing the weight loss. Fast forward to a year later, still unable to gain weight, my doctor decided to do a CT scan. The results were normal. He then had the nerve to suggest I was anorexic. I then went to a gastroenterologist who did a colonoscopy which was normal. Well, then another year later my husband found an odd growth on my neck. We went to the local ER and they referred me to an ENT. The ENT did a biopsy and it came back normal. So she decided to surgically remove it to do further testing. The day of the surgery I found out I was pregnant, so the surgery was cancelled. I carried the baby for 3 months and then miscarried. Still very thin and frail. Six months after that miscarriage I got pregnant again in 2013, had the baby in December 2013. I was 145lbs when I gave birth. By January I weighed 90lbs, and started having tremors, fainting, nausea, gagging, numbness, and developed sleep apnea. I went to my general doctor who did a CT scan, said I had gallstones, so they removed my gallbladder in March 2014. The symptoms were getting worse after the surgery, so she referred me to a Neurologist. The Neurologist has done 2 brain MRIs, one c spine MRI, came back normal. She then did a paraneoplastic panel, which came back normal. She did an EMG on both legs which has shown serious neuropathy. She is completely stumped. My symptoms aren't getting better. I now way 78lbs and tremors, shaking, numbness, nausea, vomiting, falling, blurred vision..the list goes on. She said something is attacking my nerves and muscles but doesn't know what yet.. She has referred me to a Rheumatologist so they can try to figure this out. Some days I'm completely bedridden so finding an answer is all I can think about right now.. I'm beyond depressed. I am deteriorating and I feel like I won't ever find an answer until I'm near death

Anonymous said...

Oh, I also forgot to mention I have an unexplained rash covering my entire body..since March..

Doctor D said...

I should clarify that NO comments here will be read for diagnosis. I really cannot practice medicine via a comment thread, but I'm glad people all over the internet are finding this a useful space to discus their mystery illnesses. Hopefully, writing this will be a useful exercise for articulating your concerns for your own physician.

Anonymous said...

Yes, it's comforting to know that you're not going to die, but suffering through the symptoms makes me think death would be better - especially when the biggest symptom is pain and doctors are terrified of it. I understand all of the social and legal implications behind their fears, however as a patient of chronic pain and an undiagnosed disease I will be the first to say how frustrating this is.

Anonymous said...

I have been dealing with the same thing for years now. I leave the doctor's office in tears. I've even been called a drug seeker once. And drug seeking I am not. I just want to feel better, and like you, at times death feels like the better option.

Anonymous said...

i fell tired all the time
bodies always aching
eyes hurt
throat fills slightly swollen
short temper problems
irrgeular heart beat
rashes all over my body
doctors say my blood shows no signs of anything

Anonymous said...

I have Vulvar Lichen Planus, Enlarged Spleen, Fatty and Enlarged Liver, High Triglycerides, High Platelet Count, High White Blood Cell Count, Depression, Anxiety, Asthma... please someone help me figure out whats wrong with me!!!

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