A medical mystery has reached a breaking point.

August 10, 2009 11:32 AM

Since 2001 I have been experiencing an array of progressive medical symptoms with an unexplained origin and have reached the end of my rope.

My medical history is incredibly detailed but I will give you the short version and ask you for advice and suggestions moving forward.

Since 2001 I have been experiencing a series of progressing symptoms with an unknown origin. Originally, the symptoms did not manifest physically but rather mentally. The first problems I experienced were with memory. I had difficulty recalling college lectures and where I left things - It seemed benign, but it was definitely happening. At the time I had seen a neurologist and he did not find a structural cause for my problems. I also visited mental health professionals who cleared me of any obvious mental health diagnoses.

Now, eight years later, the mental symptoms have progressed to the point where friends will point out that I tell them the same stories multiple times and they get frustrated with me because I forget things that they tell me, even minutes after they do.

This is just the start of it. Physical symptoms have been manifesting for about three years now and have brought me to a breaking point. The worst of these symptoms include minor urinary incontinance, delusions, loss of balance, delirium, edema (eyes, hands, feet), extreme fatigue (can get 9 hours of sleep and still have to force myself out of bed), extreme dizziness (drunk feeling, 24/7), light sensitivity, and loss of circulation to my hands and feet. These symptoms do not come and go: They progress, and they make everyday life for me an absolute horror.

I have been through many primary care doctors and while test results have showed kidney dysfunction and endocrine dysfunction, nobody has put the pieces together and found out what the hell is going on.

I have excellent health insurance (MA Blue Cross HMO) and have been lucky with that but now my primary care doctor has moved and I cannot make an appointment with anyone but a Nurse Practitioner until September first.

I am at a breaking point. As I type this I am contemplating an emergency room trip but I have been there before and know that that's not the way to go if you want the best care. I do manage to work, but that is becoming next to impossible - and I cannot afford to not work.

Worst of all my family and friends do not understand what I go through and for months I have tolerated everything and hidden it from the world because it has caused a breakdown of personal relationships in the past and I do not want that to happen again. Basically, I grin and bear it and fight through everything by myself.

My question contains multiple parts: Can anyone make a suggestion as to what course of action I should take? Share similar experiences? I feel like I am helpless and have reached the end of my rope. I am not currently taking any medications.

I can offer a more detailed explanation of things if someone is willing to help. I have created a throwaway email for personal responses. [e-mail]

I sincerely appreciate you reading. Thank you.

posted by Macallister Vagabond to Health & Fitness (36 answers total)

This is totally random, and not at all medical advice. A lot of people in my family have celiac disease, which is a gluten intolerance. In my family at least, it went undiagnosed for many many years. Because you progressively lose the ability to absorb vitamins, it can present in a number of different ways (my mom was diagnosed with hyperthyroidism and rheumatoid arthritis, both caused by CD, about 10 years before the CD diagnosis). No idea if the type of symptoms you're experiencing have ever been related to celiac, but it is one of those usually-not-tested-for diseases that can solve an array of medical mysteries. There is a less-reliable blood test and a more-reliable biopsy test.
posted by melissasaurus at 11:48 AM on August 10, 2009

Just to point out the obvious, but you do realize you're using a throwaway email addy on a non-anonymous question, yes? Was this supposed to be anonymous? Email one of the mods to have this anonymized if that's not the case.

Also, an ex-GF had the same experience with gluten intolerance mentioned above, FWIW--though I am not a doctor, she was not a doctor, and I have no idea what I'm talking about.
posted by Admiral Haddock at 11:55 AM on August 10, 2009

In terms of alternatives to going to the emergeny room: If your doctor was part of a medical office group, there should be an on-call doctor available every day for walk-ins. In fact, you can probably call Blue Cross right now to find a doctor in your network that will take you in and see you today. Your Nurse Practioner should be able to help you find a new doctor as well. You will need to choose a new Primary Physician anyways. I'm sure that in the entirety of the Blue Cross HMO network in your vicinity, there will be at least one doctor that can consult with you today.
posted by jabberjaw at 11:56 AM on August 10, 2009

Instead of the ER, find out the closest hospital/clinic that has an Urgent Care facility. The ER doctors often are moving from giant emergency to giant emergency, so you may not get the attention that you hope to find. I've found that the Urgent Care clinics are staffed with doctors who have a little more time to listen to a list of symptoms and try to work things out without needing to free up a bed for the next car accident that comes in (the one at Mt. Auburn Hostpital in Cambridge is most excellent, if you're close to there).

If you can get an appointment with a new primary, of course, that's a good way to go, but if you feel you need to see a doctor immediately, that's what I'd suggest. Also, write down everything you can so you can give as full a history to the doctor who sees you, and make sure to say at the outset that this is a long-term case and you feel it's become intolerable. That way, the doctor may be less inclined to send you off with something to cover the "current" symptoms.
posted by xingcat at 11:57 AM on August 10, 2009

You might want to share your age.

You shared advice in this thread about finding a "Dr. House". Have you considered or already tried contacting the Mayo clinic for a team of experts to work together to find an answer? Or possible the Dr. Michael Bolte who is linked in that thread?

And I'm sure you've tried this, but have you taken a look at the Wrong Diagnosis website, and plugging in your symptoms?
posted by Houstonian at 12:00 PM on August 10, 2009 [1 favorite]

Response by poster: @melissa thank you, i don't believe I have explored that yet.

@admiralhaddock - yeah i realize that, but i didn't think my e-mail was public? i'm not worried about it but thank you

@jabberjaw & xingcat - thank you. i am aware of the urgent care clinic but I guess I'm just cynical that they will get me the care I feel that I need at this point.

@houstonian - I am 26. And no, I have not. But after revisiting that thread I feel it might be a good idea. and yes, I think my differential diagnosis is too scattered for WD to be effective

thank you everyone.
posted by Macallister Vagabond at 12:08 PM on August 10, 2009

I'm not a doctor, so I do not know what I'm talking about.

But, I entered some of your symptoms in the Wrong Diagnosis website (which of course is not at all a substitute for a doctor). It came up with 2 possibilities, fwiw:
Multiple Sclerosis
Stroke

Surely your doctors have already ruled these out. But, a lot of the symptoms match.
posted by Houstonian at 12:15 PM on August 10, 2009

Just a quick explanation: I'm not talking about an urgent care clinic; I'm talking about a regular doctor's office that has multiple doctors on staff under the same umbrella. There's usually room for walk-ins, and a regular day-to-day physician on-call for the day. It'll be the type of doctor is also a primary care physician.

Now that it has been mentioned, your symptoms remind me of Multiple Sclerosis too. (IANAD)
posted by jabberjaw at 12:20 PM on August 10, 2009 [1 favorite]

IANAMD, but if I were having those symptoms, here's what I'd want my physician to rule out:

Lyme disease (hello, MA dweller)
hypothyroidism
MS
celiac disease
severe sleep apnea


I'm not sure that one diagnosis covers all the symptoms, but sometimes things can lead to other things and comorbidities are also possible.

As for a course of action, I think I'd take the appointment with the nurse practitioner and ask for a referral to one of the big teaching hospitals in the area. They are used to looking for zebras when hearing hoofbeats. Maybe an internist at Mass General? Or an infectious disease doc? Good luck and I hope you find some relief soon.
posted by marmot at 12:21 PM on August 10, 2009

Mass General's likely to be the best neurology department you've got easy access to-- and they're *really* good. Your symptoms are at least partly neurological in nature, so I'd say there's a strong argument for asking for a referral over there.

(Dr. Misha Pless at MGH Neuro was a friend of mine's Dr. House at one point. You might give him a lookup.)
posted by fairytale of los angeles at 12:26 PM on August 10, 2009

Fatigued, sleepy, memory issues, etc are classic signs of sleep apnea. Have you been put through a sleep study yet? There are several sleep disorders out there and fatigue in a young person usually means a sleep issue.

FWIW, when my apnea was bad I felt a lot like you, but without any urinary issues. Light sensitivity, feel fatigued/sick all the time, random spots of hyperactivity (caused by loss of sleep), poor memory, etc but I didnt necessarily feel sleepy, just tired and shitty.

Then again, these are really generic symptoms, so it could be anything.
posted by damn dirty ape at 12:27 PM on August 10, 2009

IANAD, but have you considered heavy metal poisoning? (please excuse the generic link, it's the best I can do in a hurry)

Symptoms of heavy metal toxicity include mental confusion, pain in muscles and joints, headaches, short-term memory loss, gastrointestinal upsets, food intolerances/allergies, vision problems, chronic fatigue, and others. The symptoms are so vague that it is difficult to diagnose based on symptoms alone.

Sorry I can’t advise you on a course of action, just wanted to put that possibility out there.
posted by yawper at 12:28 PM on August 10, 2009

Obligatory mention of Mayo Clinic, or whatever research hospital is nearby for you.
posted by damn dirty ape at 12:29 PM on August 10, 2009

Were you at all involved in a head injury where you lost consciousness? Sometimes signs of head trauma don't show up for a while, sometimes years.
posted by thisperon at 12:32 PM on August 10, 2009

I have tolerated everything and hidden it from the world because its caused a breakdown of personal relationships in the past and I do not want that to happen again. Basically, I grin and bear it and fight through everything by myself.

Please seriously consider a therapist to help with the mental and emotional anguish of not yet having a diagnosis, and your reluctance (justified or not) in leaning on people who care while you go through this.
posted by cocoagirl at 12:48 PM on August 10, 2009

I don't have any medical advice, but it may help if you try to communicate what you are going through a bit more with your family and friends. Trying to keep everything hidden must be causing you a lot of stress. Write a letter that you send out to the people closest to you, letting them know what you've been going through, and how much effort you have put into resolving it. Getting their understanding and support could help you a lot. There is a good chance that they have come to their own (totally wrong) conclusions about your behaviour, and clearing that up would be a really good idea. You can also enlist their help in day-to-day things - like carry a notebook to keep track of things you need to remember, and get them involved in using it with you.
Hope you get it sorted out soon.
posted by 5_13_23_42_69_666 at 12:57 PM on August 10, 2009

To the above Lyme Disease and MS, I would also add normal pressure hydrocephalus as something I would want ruled out -- this is more common in older adults, but urinary incontinence, loss of balance and memory problems are all red flags for NPH.

In any case, you need to be seen by a neurologist. The symptoms you describe are likely neurological symptoms, and what you're describing is outside the norm of what a primary care general practitioner sees from day to day, so it's not that unusual that they would not be able to tell you what's going on.

Boston is home to some of the best medical minds in the country. Be persistent, and keep putting yourself and your symptoms in front of them. I'm sorry this is happening to you. Please keep us posted and let us know what you find out. And what cocoagirl said -- you might want to look into getting yourself some support through therapy. You don't have to be going through this alone. You should also mention the social/relationship repercussions of this condition to the MD when you see him/her.
posted by jennyjenny at 12:59 PM on August 10, 2009

I don't have any advice specific to your symptoms, or to finding a doctor who will help you soon.

I can give advice on dealing with an undiagnosed physical disease, as my father went through something very similar (although with different symptoms) when I a child/teenager.

First, unless you have a spectacular doctor or team of doctors who are entirely devoted to you (I don't think they don't exist), then I highly suggest that you find a friend or family member who is a) healthy, and b) willing to act as a patient's advocate for you (or hire someone - I'll talk about that later). The point of a patient's advocate is to fight for your care when you're just feeling too darned tired or sick to do it yourself. Symptoms like fatigue, dizziness, and memory loss almost require a patient's advocate to attend meetings/exams with physicians, take notes, ask questions, and generally light a fire under your doctor when they start to blow you off as too much trouble.

I know it can be hard to ask for help, and if you're unmarried or not in a long-term relationship, it's definitely hard to ask a parent or sibling or child to act in this manner. Some insurance companies offer patient's advocacy services, or there are low-cost and pay-options where nurses and doctors will act in this capacity.

In my father's case, my mother worked tirelessly to get not only a diagnosis, but a symptom treatment plan for my father. In the end he was diagnosed with Chronic Fatigue Syndrome (basically, "We don't know why you're having an elevated immune response to everything - you just are!"), but having a diagnosis means he doesn't have to start all over every time he gets a new doctor or has new symptoms.
posted by muddgirl at 1:07 PM on August 10, 2009

Your symptoms sound an awful lot like my grandmother's, and might be Normal Pressure Hydrocephalus. I second consulting a neurologist ASAP.
posted by Lush at 1:08 PM on August 10, 2009

I don't think they don't exist

I meant to say, "I don't think they exist."
posted by muddgirl at 1:09 PM on August 10, 2009

For what it's worth, I have half these symptoms (fatigue, dizziness, memory difficulties, trouble with circulation in the extremities) and I have MS.
posted by ricochet biscuit at 1:17 PM on August 10, 2009

I can't tell if you've done this, but I would insist on an MRI. I am specifically thinking of MS, as others have mentioned. I personally have many of your symptoms, minus the delerium and adema, though I do know symptoms can present themselves somewhat differently in men compared to women. And across people in general.

IANAD, but I have MS, and your description of most of your symptoms are familiar to me. Even if it's not MS, I think an MRI would be good idea.

Good luck, and I hope you can get this resoved.
posted by waitangi at 1:25 PM on August 10, 2009

Have you lived in the same house or worked in the same office since 2001? It's possible there's an environmental explanation.

If the OP's doctors have not tested carefully for MS or Lyme Disease, I'd be amazed.
posted by fourcheesemac at 1:40 PM on August 10, 2009

Response by poster: To all: I am overwhelmed by the responses here - Thank you. I will address all of the suggestions later but I am headed to the Urgent Care center at my primary's practice and hopefully I will make it on time.

Thank you, thank you, thank you.
posted by Macallister Vagabond at 1:55 PM on August 10, 2009

To the above Lyme Disease and MS, I would also add normal pressure hydrocephalus as something I would want ruled out -- this is more common in older adults, but urinary incontinence, loss of balance and memory problems are all red flags for NPH.

I totally agree. That was the first thought that came to mind as I read your symptoms. It is not a simple diagnosis though.
posted by caddis at 1:59 PM on August 10, 2009

"...test results have showed kidney dysfunction and endocrine dysfunction...."

Such as? If you know you have dysfunctions, suggested by lab results, seems to me you should list them as part of your symptoms--something may stand out as a red flag to someone reading your complaint.

Some of your symptoms very much sound like hypothyroidism left untreated for far too long. Edema, fatigue, memory trouble. Thyroid eye disease happens sometimes and can result in swelling, puffiness around the eyes (and protruding eyes).

On the other hand, many of the symptoms don't sound like hypothyroidism, and you seem not to mention some of the more usual symptoms.

As someone else said, you might have more than one thing going on here at the same time. And if you have endocrine abnormalities, remember that the endocrine system is just that: a system. When one thing goes wrong, and doesn't get treated for a long time, other stuff can go wrong too. It all works together.
posted by ViolaGrinder at 2:01 PM on August 10, 2009

The difficulty is that your symptoms are all over the map. I've been in your position and what happens is that it's impossible for you to distinguish which symptoms are caused by a potential underlying disorder and which, if any, are caused by something else entirely like anxiety over your situation.

For example, a lot of people have suggested MS. The thing is that 90% of MS is relapsing and the OP has stated that his symptoms have been progressive from onset. And of the 10% of primary progressive cases, age of onset is usually much later than more typical cases of MS. Plus while a lot of the symptoms fit they are all very non-specific symptoms like fatigue and dizziness. And eye edema (assuming that means edema AROUND the eye and not inside the eye) would be very unusual. And things like delusions, delirium, etc so early in a disease course would be very surprising so far as I am aware.

Similar problems exist for Lyme, not to mention the fact that Lyme is probably the diagnosis du jour for internet people who are sick and have had difficulty getting a firm diagnosis. Because the symptoms can be so non-specific and the blood tests are of questionable reliability. So going LYME! is the equivalent of people who describe themselves as having asperger's-like symptoms on the internet.

Ditto severe sleep apnea. Urinary incontinence?

So your symptoms are so wide ranging and severe that we're not going to be of much help. We're not your doctor and probably not even doctors at all. If I had to take a wild-ass out of thin air stab I'd say you should get tested for LUPUS as more likely than MS or sleep apnea or the other things mentioned but I'm not going to pretend that you should take even that very seriously.

As to what you should do? You almost certainly should see a neurologist and be evaluated for an MRI. Urinary incontinence in someone your age says thats reasonable. You almost certainly should also see a shrink and see if an anxiolytic and/or anti-depressants and/or talk therapy helps. And you should be more specific about what these kidney/endocrine disfunction blood test results are.

But really, your symptoms are such a pile of all-over-the-map stuff that you should take everything in this thread (including my comment) with a big grain of salt and realize you are not in much position to distinguish which symptoms are a result of an underlying physical problem and which are a result of the stress and anxiety of being so ill without an explanation.
posted by Justinian at 2:22 PM on August 10, 2009 [3 favorites]

I wanted to duck in to say that I stopped eating wheat based on a hunch that I got from the Internet. I figured, what the hell: if it works, great. If not, can't suck harder than life already does. The change has been dramatic. I suggest you do a similar test or you get tested for similar allergies.

I went from basic general awfulness similar to what you described - including especially the sleep weirdness / exhaustion. Since stopping wheat, I feel like a new person. I sleep between six and eight hours and I am ALWAYS fully rested.

Best of luck.
posted by greekphilosophy at 3:01 PM on August 10, 2009

How bad are your kidneys? Mine failed when I was 19 (caused by Alport Syndrome, which you probably don't have). Find out what your creatinine is. The normal range is ~0.8-1.2, so if it's higher than that (especially above 2.0), some of your symptoms could be related to your kidney dysfunction.

Kidney failure can lead to edema and anemia (low red blood cell count--which could account for the tiredness). When I was on dialysis, and during the time that my first transplant was failing, I had constant problems with my memory. In addition, my decision-making capabilities were compromised, and I sometimes had false memories. The mental stuff was all resultant from uremia, and it totally sucks.

Some of your symptoms (urinary incontinence, loss of circulation in your extremities, fatigue) sound like diabetic symptoms. Diabetes attacks the kidneys when left untreated.

Having said all of that, I am totally not a doctor. Also, the timeline you give does not match what I know about when these issues present themselves. Mostly, I wanted to tell you that I've been there for some of these symptoms, and they are horrible. I couldn't trust my body, and I couldn't trust my brain, and those are two things most of us take for granted (in ourselves and others).

There were a lot of people in my life who didn't understand (or care to understand) what was going on with me. What helped was trying to explain what was going on with me to my friends and relatives. Once they knew what why I was acting oddly, most of them were a lot more patient and helpful.

Try to hang in there, and feel free to MeFi Mail me if you have any questions.
posted by sleepinglion at 3:11 PM on August 10, 2009

I am not a doctor. But I have gone through similar things (see posting history).

Many of your symptoms are nonspecific but strongly suggest a neurological component - to uneducated laymen like ourselves. I would keep going to neurologists until you find one that answers your questions to your satisfaction.

If you look at differential diagnosis charts intended for medical students its striking how radically different neurological conditions can have such similar symptoms - telling migraine from epilepsy from a brain tumor is not easily done on the basis of history alone. I think the way symptoms like these are generally approached is to rule out etiologies in order of potential danger - neuroimaging (MRI/MRA/CT) is something I think you would want to have done just to rule out the very slim chance of a neoplasm (brain tumor) or other organic cause (multiple sclerosis, stroke, and so forth).

That said, don't panic. I had many similar symptoms and immediately jumped to the worst conclusions. Though I don't have all the explanations I'd like, my worst fears were largely unwarranted.

The worst of these symptoms include minor urinary incontinance, delusions, loss of balance, delirium, edema (eyes, hands, feet), extreme fatigue (can get 9 hours of sleep and still have to force myself out of bed), extreme dizziness (drunk feeling, 24/7), light sensitivity, and loss of circulation to my hands and feet.

What sort of delusions have you had? How long did they last? When did you recognize them as delusional? Did other people comment on your strange beliefs? Which of your symptoms have other people commented on without your prompting? Did the loss of balance cause you to fall or brace yourself? Do the symptoms ever seem to get better, or have things been getting steadily worse? Is severity related to time of day?

I recommend keeping a journal with you and writing simple notes like:

18:38 - Saw blue spots, felt dizzy. Similar to feeling from three or four days ago. Feeling confused.

as you can perhaps see patterns you might not notice otherwise and more importantly, can make your recollections for medical professionals less muddled (especially important if you're having memory problems).

Have them do all the blood tests to rule out anemia if they haven't already.
posted by elektrotechnicus at 3:43 PM on August 10, 2009 [1 favorite]

You can ignore everyone speculating on specific neurological problems - everyone is just going to mention the one they are most familiar with, because they can all have such similar symptoms.
posted by elektrotechnicus at 3:46 PM on August 10, 2009 [1 favorite]

You can ignore everyone speculating on specific neurological problems - everyone is just going to mention the one they are most familiar with, because they can all have such similar symptoms.

Exactly.

Keeping a journal is a good idea if a doctor recommends it. If you just start doing it without talking to a doctor it could start a feedback loop of all kinds of paranoia.
posted by Justinian at 4:56 PM on August 10, 2009

Response by poster: To all:

I saw a nurse practitioner and spoke with the nurse of my old doctor today and accomplished two things:

1) I will have a sleep study - It is one test I have yet to have done and it can unquestionably explain the majority of my symptoms. I can't believe it has never been suggested in the past.

2) I have have a referral blank check, so to speak - they said they will write me a referral to anyone I choose and I think I will start looking at Mass General (more specifically, the neurologist mentioned above

I cannot address you all individually but I can assure you that I have read everything you all have written and it has helped me a great deal.

Based on the suggestions above, I have not explored:

NPH
Lyme Disease (though it does seem to be somewhat fringe and not ENTIRELY based on science)
Sleep Apnea (this is huge and I think you are all on to something here. Need a sleep study ASAP)
Celiac Disease
Wheat Sensitivity

The suggestions of MS are certainly smart but my frustration here lies in the fact that I have received a typical battery of tests and they have been negative so I have to believe that what I'm dealing with here is something non-intuitive and extremely difficult to pin down. In other words, the obvious tests here have been done: MRI, Metabolic Blood Panel, ANA, Sedimentation Rate, etc. and the only abnormal findings, as stated above, were BUN and Creatinine and Amylase and Lipase (all elevated but not elevated enough to cause concern, in the words of my primary care doc). The BUN and creatinine is troublesome in my opinion because BUN has been as high as 38 and creatinine has reached 1.8. Certainly not crazy figures but surely cause for concern.

I have seen psychologists and neuropsychologists and my mental health has been found to be good in spite of the circumstances. The neuropysche did find some non-specific short term recall difficulties and complex problem solving difficulties that had deteriorated since a similar test in 2001 but this finding proved to be a dead end.

I will state more tomorrow if I have a chance but for now I need to try to get some probably-bad sleep.

Thanks again. Take care.
posted by Macallister Vagabond at 6:06 PM on August 10, 2009

Have you lived in the same house or worked in the same office since 2001? It's possible there's an environmental explanation.

I think that looking at your past home / work environments is well worth your time. You don't need to have been living or working there continuously. Exposure to mold can cause a wide range of symptoms.
posted by BigSky at 6:19 PM on August 10, 2009

Huh, something just occured to me and it might not be an obvious thing they would have checked.

Neurosyphilis. Might be a little embarrassing and it's a little uncommon now unless you have HIV (you've been checked for HIV, right?) but, hey, almost any diagnosis you get is going to involve rarities or uncommon symptoms and if we're just throwing darts at the wall, well, neurosyphilis even explains the delusions and photophobia. If this were an episode of House instead of real life it would probably be neurosyphilis.

Like I said take this, and everything else in the thread, with a big grain of salt and listen to your doctors which all of us, particularly me, are not. I didn't even stay in a Holiday Inn Express last night.
posted by Justinian at 7:59 PM on August 10, 2009

Both mental fatigue and bizarre endocrine problems are tell-tale signs of celiac disease. After destroying the villi of your small intestine (in a misguided effort to destroy the gliadin protein in the gluten you're eating, which your body thinks is a threat to you), your over-active immune system may then start attacking your thyroid, which makes you feel just awful, and yet the symptoms can be so maddeningly vague and non-specific that until you finally get the results from your gluten antibody blood test, half your family and friends think you're either nuts or lazy or fibbing about your "symptoms".

Ask me how I know.
posted by Asparagirl at 8:30 PM on August 10, 2009