The doctors won't diagnose his MS (or whatever it is). What can we do?

August 10, 2009 6:17 PM

Would really like to hear from any Mefites who have been through this particular hell. My partner has been suffering for many years from symptoms that we recently realised are a perfect match for MS. Many members of his family, including his father, have MS, and his problems right now are mirroring those his father had that led to his diagnosis. We did some research and he is a perfect, 100% fit to pretty much every online list of MS symptoms.

He is in almost constant pain and 90% housebound, has been for many months. After blood tests, a neurologist and a couple of MRIs, he's being told that he is in perfect health, has been prescribed basic vitamins, and told that if the problems persist to come back in four months to get a referral... to a psychiatrist. Needlesss to say, we are both fuming right now. He is in pain. He is suffering. It is NOT in his head. We want to start him on a course of whatever it is he needs so that he doesn't have to be in pain and I don't have to see him in pain.

Details: he has experienced a variety of on-again, off-again ailments for many years. Most prominent are big bathroom problems (constipation/diahrrea on a near-daily basis, even with diet changes), and attacks of crippling pain (he describes it as fire or lightning) and/or numbness in his legs, to the point where stairs and getting up from a seated position are painful and sometimes impossible. Also extreme constant fatigue and short-term memory loss, to name a few.
These problems come and go but the attacks have been getting worse and closer together in recent months.
Doctors (GPs at local walk-in clinic) kept saying he was fine, until finally he got one to do a few more tests - at the point that the rubber hammer to the knee got no response at all twenty times in a row, blood tests were ordered.

- Blood tests came back "fine"; when he pointed out that he was in no way "fine", he got a recommendation to neurologist.
- Neurologist watched him walk, poked him, etc., prescribed a mildly radical change in diet, and sent him for an MRI (head/spine).
- We followed the diet religiously (I made all his food and as he can barely leave the house there's no cheating), miraculously managed to get the MRIs done within the month, and then had to wait another month for the follow-up with the neurologist.

Today the neurologist said that everything looked good and that he could have some vitamins if he wanted. No signs of anything in the MRIs. We asked about the diet, and were told that he could follow it or not, it didn't really make a difference (!). He said to try the vitamins for four months, and then to come back and if he was still having problems then he would refer him to a psychiatrist.

We are.... angry.
It's been such a struggle to even get a doctor to LISTEN, and finally we go the whole route and the end result is a patronizing dismissal. He could barely even get to the doctor's office today because his legs were so bad, with numbness below the knee and pain above it, and he gets a shrug and a pat on the head?!

From all my reading I know that MS often goes undiagnosed for a long time; even my father-in-law got three different diagnoses before he finally got treated for his. I've seen first-person accounts of this same frustration online. We are still both pretty sure that this is MS - with his symptoms that's one of the nicest diagnoses he could get - but WHATEVER it is we want to get him diagnosed and TREATED already! I just don't know where to go from here.

What can we do?
What kind of doctor should we try to see?
What should we be doing on our own while we try to get a medicine man who will actually help him?

posted by anonymous to health & fitness (23 answers total)

I'm so sorry you're dealing with this, it sounds like a nightmare. I unfortunately don't know much about the early stages of MS, although I do know multiple people who've dealt with it for some time who are doing pretty well.

But one possible avenue while you're trying to pursue other doctors, is to look into participating in MS research. I work in research on an entirely different condition, and through our research program we can often get people in, tested, and diagnosed while they're still on the waitlist for an initial consultation with a clinical doctor. We can't necessarily do all the testing or provide all the care families need, but we can at least confirm that they're not crazy, their symptoms really do fit the diagnosis they think they have, and we can give them some information and testing reports they can take to their doctors, insurance companies, or whatever. We're told sometimes that's a helpful wedge in the door - a doctor who isn't taking you seriously may take you a little more seriously if you can say Big Respected MS Doctor says the diagnosis fits and suggests pursuing Y therapy or Z evaluations.

I don't know if MS research is the same, but it seems like a possibility. It could be worth an afternoon of looking into early-stage MS research that might be available, and making a few calls to find out what kind of diagnostic testing and care your partner might be able to get.

Good luck! I hope someone else here will have more MS-specific guidance for you.
posted by Stacey at 6:40 PM on August 10, 2009

He could go to a geneticist and see if he has a genetic mutation that predisposes him to MS. It would be more helpful if his dad got tested too. This is not something that insurance will necessarily pay for.
posted by ishotjr at 6:41 PM on August 10, 2009

Okay, I'm not a doctor, and I have a lot of sympathy for your situation, but...have you considered that you might be wrong? That he might not have MS? MS manifests itself clearly in plaque/scarring on the brain and spinal cord, as I understand. No scarring, no MS. If the MRI is clear, isn't it possible, even likely, that it's not MS? Like I say, I'm no expert; maybe the doctor is misreading the MRI, or maybe the MRI didn't image the right area, though both those possibilities seem remote. Could you get a second opinion on the MRI scans, to see if the doctor hasn't missed something?

I want to be clear, I'm not defending what sounds like a dismissive attitude by the doctor. Your partner clearly needs someone to work harder at diagnosing him. But I think that by fixating on this self-diagnosis of MS, you might be blinding yourself to other possibilities and then getting angry when hard evidence contradicts your pre-determined view. I think you need to get out of the frame of mind that the doctor is being negligent, and work with a doctor or other health professional to find the cause of your partner's illness.

I would recommend two things. First, get yourself a family doctor if at all possible, don't just go to GPs at the walk-in clinic who have no long-term connection to you. Go through everything with your doctor, and work at finding a cause for the symptoms. Second, consider (I can't believe I'm writing this, but in the circumstances...) going to a naturopath (not a homeopath). Generally I consider alternative medicine to be wiggy and unreliable, and homeopathy is definitely a scam, but I've known people to be helped by naturopaths because they take a lot of time to listen to your problems and work with you to change your diet and other things in your life to make you healthier. Do not under any circumstances abandon traditional, evidence-based medicine, but supplementing it with naturopathy may help you. You don't tell us where you are or what your financial situation is, but hopefully this is practical advice. Good luck.
posted by Dasein at 6:42 PM on August 10, 2009 [2 favorites]

1) MRI is not completely sensitive for MS.
2) Like Dasein, you might be incorrect. While you're sure it's a"100% fit to pretty much every online list of MS symptoms," I don't know you're necessarily medically educated to make those calls. (I'm probably not either, even with my medical training.)
3) Ask for a second opinion, either from your primary doctor or the neurologist you saw.
posted by gramcracker at 6:55 PM on August 10, 2009

I saw this web page today, and it might help you.

Most notably, please read the first few sentences, which are in red bold font. It's about insurance, and it's worth considering. Additionally, it lists all the tests doctors do to test for MS. The entire site seems to have some good information.

Whether he has MS or not, it sounds like you need a doctor who can better help you. If you live in a small town, you might seek out a doctor in a large city. If you live in a large city, you might seek out a research hospital. The National MS Society (assuming you are in the US) might be able to recommend your next steps and an appropriate doctor near you. You find find your local chapter here. Or, on this page, they say, " For referrals to physicians in your area, call 1-800-344-4867 to speak to one of our information specialists."
posted by Houstonian at 6:55 PM on August 10, 2009

I have an MS.

MRI is currently the definitive test for MS. It is possible that the MRI technician or the neurologist were incompetent. A second opinion would be the way to deal with that possibility. There are other tests that were used in the past, including spinal taps and something called a "visual evoked potential" test, but I don't believe those are generally done any more and regardless they were not definitive in the way that the MRI is.

MS is not, generally speaking, an inherited disease. There is a slight increased chance of having MS if you have an immediate relative who has it, but it is still much much more likely that you won't have MS.

There is no reputable medical evidence that I'm aware of that diet or vitamins can effect the course of MS. There is lots of disreputable (aka "alternative") discussion of controlling MS through diet and supplements, but nothing mainstream. It sounds to me like the neurologist was hoping those would have a placebo effect, and perhaps felt that your partner was a hypochondriac.

You don't say where you live or what your health insurance situation is. If you can afford it, I would definitely follow up with another neurologist, preferably one who specializes in MS. In major cities there should be such a person or even a whole clinical practice specializing in MS.

I would also consider the possibility that your partner has some other illness. There are all sorts of causes of neuropathy (neurological pain and other weird sensations) and fatigue. Some of these are poorly understood, but they can still be controlled. There are drugs available for neuropathy, e.g. Neurontin, and for fatigue there is Provigil. Both are as likely to be prescribed by a psychiatrist as any other kind of doctor, so I wouldn't necessarily take that suggestion as a mortal insult. I originally got my Provigil prescription and my neuropathy drug prescription from a psychiatrist, though they are now maintained by my GP.

There are all sorts of complex medical syndromes that doctors don't understand. When someone has one of these (e.g. Fibromyalgia) doctors often dismiss them as hypochondriacs. That can be very frustrating and difficult. While your partner's self-diagnosis of MS may not be correct, that doesn't mean you should stop looking for help.

Good luck.
posted by alms at 7:02 PM on August 10, 2009 [3 favorites]

IANND and IANYD but check out the info of Antiphosphilipid Syndrome or APS. Very mis-understood disease that often manifests with symptoms of MS and throws lots of people off the right track. I'm not suggesting that is the problem but it sounds like you are trying to be an advocate for your loved one and need to look at other possibilities. Good luck to you and yours.
posted by pearlybob at 7:04 PM on August 10, 2009

I'm so sorry you're going through this. My partner suffered various neurological symptoms for about a year before he was diagnosed with MS after an MRI and spinal tap.

From what he's told me, the diagnosis was based very much on the results of the MRI (which showed evidence of damage to the myelin sheath around his nerve cells) and a spinal tap (which showed proteins characteristic of MS in his cerebrospinal fluid).

The symptoms alone did not result in an MS diagnosis. If I recall correctly, during the testing process, he was told there were other a number of other conditions that might have caused his symptoms.

If you're not confident of the first neurologist's diagnosis, could you take your MRI results to a second specialist to confirm there is no sign of the lesions that characterise MS?

There is some information here about diagnosis. Good luck - I hope you are able to get some answers.
posted by t0astie at 7:06 PM on August 10, 2009

Antiphospholipid Syndrome. Spell check borked that one..
posted by pearlybob at 7:07 PM on August 10, 2009 [1 favorite]

Most notably, please read the first few sentences, which are in red bold font.

Yes, that's a good point. Current treatments for MS have a couple of major problems:

1. They don't cure, reverse, or even halt the progression of the disease, they just slow the progression of the disease by something on the order of 30%.
2. They cost on the order of $20,000/year.
3. They involve daily or weekly injections, which turns some people off.

Item 1 is very important to remember. If your partners symptoms are caused by MS, they will not necessarily ever go away. Taking Copaxone or Betaseron may make them get worse more slowly, but they won't make the current symptoms go away. (On the other hand, there are drugs to help control some symptoms, as I mentioned previously.)

Item 2 is very important you don't currently have health insurance, or if your health insurance is in any way sketchy.

Item 3 is less important, though it really bothers some people so it's good to be aware of in advance.
posted by alms at 7:10 PM on August 10, 2009

aims pretty much wrote word for word what I was going to say, down to the part where MS hasn't been found to be genetic, though your partner may have a predisposition to developing the disease.

I was diagnosed with MS after contracting chicken pox for the first time when I was 23. Fortunately, I have been in remission for several years and I only tend to have issues when I'm extraordinarily tired, hot, or have a fever.

If at all possible, I would attempt to see a neurologist that specialises in MS, though again, you can't be so quick to rule out other possibilities. Because, again, MS is one of those situations where it is a list of ruling everything else *out*, before you can get a definitive diagnosis *in*. For me, it took almost three years.

And by the way, I was told by a very well known neurologist in NYC that because I didn't have insurance at the time he would never diagnose me (despite having all indications that I did have MS). He also tried to hold my records hostage when I told him I would go to a different hospital if he was unwilling to help me. A threat to go public with his stance took care of that. So, yes, Houstonian's link about insurance is indeed accurate.
posted by dancinglamb at 7:18 PM on August 10, 2009

dancinglamb, I'm not hijacking this question, but I am curious and I bet your answer would help the poster. When the doctor refused to put your diagnosis on your records (I assume to protect you?) why did you fight so hard to have him include it, given your lack of insurance at the time? Or do you mean that he refused to treat you or have you as a patient?
posted by Houstonian at 7:25 PM on August 10, 2009

Both MRI and lumbar puncture are used to diagnose MS. A little over a year ago I went to a doctor and then to a neurologist with weird neuropathy and fatigue. My spinal MRI showed neurological damage and I was given an initial tentative diagnosis of MS. My brain MRI was clear, though, and so was my spinal tap. The conclusion was that I had vitamin B12 deficiency and regular B12 shots cleared up my symptoms.

At least in my case, the brain MRI was considered pretty definitive evidence that I didn't have MS even though I had many symptoms and neurological damage to my spinal cord. The lumbar puncture was done just to be sure. Your partner might try asking for a second opinion and a lumbar puncture, though I will warn you that mine was very unpleasant. However, I concur with the previous posters that it's worth considering other causes too. I was amazed at what a borderline-low level of B12 did to my body.
posted by rhiannon at 7:28 PM on August 10, 2009

This may sound out of left field, but has the possibility of Celiac Disease been explored? Many of his symptoms, though fairly serious, are not uncommon to Celiac Disease and apparently there is a growing body research developing which links it with MS. The question piqued my interest because I'm currently undergoing testing for Celiac myself and have some similar issues, though not to the extent of your partner's struggles. I wish him & you the best in finding good health.
posted by cuddles.mcsnuggy at 7:31 PM on August 10, 2009

I'm so sorry for what you and your partner have gone through - I know it's scary and frustrating.

The doctors tell me I have MS, though if I do, I am blessed with a very mild form. What I've found through my 7 years of dealing with this is that doctors really don't know much about MS at all. It is an umbrella term for so, so many neurological problems. Every single case is radically different, even though there are some common traits.

Has your partner had a spinal tap? I know that is one purported way of diagnosing MS, though it didn't confirm anything in my case. My MRIs showed lesions on my cervical spine. Nerve conduction studies led neurologists to give me a "probable MS" diagnosis. However, these neurologists also told me that adjusting my diet would have "no affect whatsoever" on my symptoms of numbness and tingling/burning. That shocked me. I opted out of the medication and went for a diet change. That has worked for me, and the handful of exacerbations since then have not been debilitating nor have they had lasting repercussions. I started with the Swank MS diet and slowly added foods back in, noting what prompted reactions as I went. What I found was that wheat and dairy were my main problems, and avoiding those keeps the tingling away. I won't pretend that will work for everyone -- I consider myself VERY lucky. I'm not sure what dietary modifications you've made, but I'd also avoid gluten for several months, as well; a friend of mine had very similar symptoms, but no lesions. In her case, it was a severe gluten intolerance (even though she tested negative for celiac).

I wish I had advice more suited to your questions-- I do agree with above posters that contacting the Nat'l MS Society is a good idea. Best of luck to you.
posted by ebee at 7:39 PM on August 10, 2009

dancinglamb, I'm not hijacking this question, but I am curious and I bet your answer would help the poster. When the doctor refused to put your diagnosis on your records (I assume to protect you?) why did you fight so hard to have him include it, given your lack of insurance at the time? Or do you mean that he refused to treat you or have you as a patient?

I had already been diagnosed in Miami by another doctor, but the one in NYC wouldn't verify, which I needed to get free healthcare at his hospital. The one in NYC was supposed to be one of the best around, and he certainly behaved as if he knew it. I ended up going to his main, uh, I guess you could call him competitor (?) across town and got infinitely better care.

The thing that sticks out most to me was how sick I was, and how much I needed help (I had no family around to advocate for me at the time), and this guy was *such* a jerk. Both in his bedside manner and attitude. Really, I can remember it like it was almost yesterday and it about 15 years ago.

Hope that answers your question.
posted by dancinglamb at 8:13 PM on August 10, 2009

First of all, keep your mind open to other diagnoses besides MS. There are many things like Chronic Fatigue, for example, that have similar symptoms.

This is not to say that you shouldn't be angry. Whether you have MS or not, you have something that the doctors are dismissing. I'm wondering if going to some kind of MS or Chronic illness/hidden disability support group might help you get some good referrals to some doctors that have really listened and helped other people with his situation. Sometimes other patients who have "been there" are the best at giving accurate information.

Good luck.
posted by Bueller at 8:37 PM on August 10, 2009

You mention that many members of his family have MS. Is it possible that they've been misdiagnosed with something hereditary (like a Charcot-Marie-Tooth disease), and that your partner is suffering from it as well? Do the family members have similar symptoms to what your partner has?

I'm tremendously sorry for what you're going through. I know someone in a very similar situation, and the attitude of the doctors she's seen has been nothing short of astounding. Unfortunately, as good a job as most docs do, it's the things that don't fall into easily-definable boxes that end up being untreated or mistreated for years. Feel free to email me if I can be of help.
posted by greatgefilte at 9:01 PM on August 10, 2009

I have MS and the MRI didn't catch it at first. It took a second MRI with a fancier machine, an injection of contrast, and for my doctor to realize that they needed to look at my neck to find my lesions.

Can you go to another neurologist? The fact that the rubber-to-knee thing didn't get any kind of a response is strange.

As an aside, I've been a guinea pig for the MS/human genome project and they're specifically looking for the genetic links to MS. They've found that in almost all cases folks with MS don't have any close relatives who also have MS. That's obviously not dispositive, but perhaps might make you feel a little less terrified right now?
posted by ohyouknow at 9:48 PM on August 10, 2009

I wanted to add that before I was diagnosed with MS every single neurologist at this big fancy ivy league teaching hospital came to my little area in the ER to stare quizzically at me. One by one they each declared that all I needed to do was "calm down". Which of course made me furious.

In fairness to those assholes, my first symptom was bizarre and not at all classically MS. Luckily the head of neurology finally made his way down to the ER and with all the sincerity in the world told me that he had unsatisfying news for me--he couldn't figure out what it was yet but he knew it was something neurological. He became my doctor and immediately realized I had MS when I started to display a second round of more classically MS symptoms--numbness in both my forearms.

According to my doctor, an MRI isn't really the only way to tell--analyzing a series of symptoms can also paint a pretty convincing picture. Go find someone who is willing to hear you and treat you with the respect you deserve. Best of luck.
posted by ohyouknow at 10:15 PM on August 10, 2009

I have a form of inflammatory arthritis, also notoriously hard to diagnose. When I first started having unmistakable symptoms, I felt so lucky to get in to see the biggest big shot rheumatologist at one of the biggest, fanciest hospitals in the country. He spent minimal time examining me, didn't listen to what I was saying so didn't even examine the right joints, and sent me home to think about going to a psychiatrist after suggesting that I might have PTSD (from some horrible event that has never happened to me) and that I needed to "act like a grown up and get help". As a 31 year old, being told to "act like a grown up" was in many ways even worse than having my pain dismissed.

I ended up getting an appointment with another rheumatologist, in a small, independent practice affiliated with our city's public hospital. She spent the first 20 minutes or so just listening to me tell my story, then asked perceptive questions about my medical history and did a physical exam of the actual joints that hurt. The difference between the doctors was just so amazing.

So, what I'm saying is get a second opinion, and try to find out from a patient forum a doctor that other patients consider to be great, instead of one with a fancy pants reputation.
posted by hydropsyche at 4:25 AM on August 11, 2009 [1 favorite]

A friend of mine has had good luck with bee sting therapy for his MS.
posted by Area Control at 6:48 AM on August 11, 2009

you need a second (and possibly third) opinion. they may not say anything different, but you never know. my mother has herniated discs in her neck and back -- which the first set of doctors COMPLETELY missed (despite us being able to look right at her films and point them out).

good luck.
posted by unlucky.lisp at 10:28 AM on August 11, 2009