I know you can’t diagnose me, but can you get a doctor to diagnose me?
September 12, 2019 11:40 AM   Subscribe

I strongly suspect I have autoimmune issues of some kind and am currently jumping through hoops to try to get them diagnosed. By all reports, this is usually a long and complicated process that involves a lot of being told that nothing is wrong or no one knows until possibly someone eventually figures it out. Can I rush this process and finish it before my insurance lapses in six months?

I guess the main thing I would like is stories of ways that you got doctors to take similar things seriously and/or tips about other strategies for actively pursuing some kind of diagnosis. But also, other possible issues I could ask my doctors to test for, since they seem to be reaching the end of their list of possibilities could help.

My issues that come and go together, I’m pretty sure they’re related:

Fatigue, muscle aches, brain fog, feeling mildly feverish/chills, frequent headaches, feeling of being on the verge of getting a uti (sometimes I do end up with one, sometimes I don’t. I have, at times, tested negative for urine bacteria while having all these symptoms), mouth sores (but not, I think, the special lupus ones), eczema, muscle tics. This is all significant enough that it makes working difficult when I’m badly affected. This pattern has been happening for almost ten years, but has become increasingly common and more reliably involved most of these symptoms at once.

Issues that don’t necessarily come and go together and I’m not sure if they’re related:

Very sensitive to temperature...my fingers go numb while others are comfortable, I also get easily exhausted in heat
Occasional weird neurological things, mainly serious muscle spasms in heat (dehydration?) that last for an hour or so and make it impossible to use my hand or, on one occasion also my foot
Arrhythmia that has been investigated in the past with no conclusion or serious concern
Mild asthma

Other relevant info:

Female, 40yo
Repeatedly tested very low for vitamin D, have now been in low normal range for a while due to supplementation
Don’t take any other medication
Repeatedly tested for thyroid function, seems normal
Had Lyme about ten years ago before most of this got worst, treated, recently tested negative
Went to a neurologist in case the muscle spasms were a clue, she was dismissive because some of these effects (muscle spasms, notably) have been occasionally occurring for almost 20 years and she said that if it were neurological I would be in a wheelchair by now. When I asked for more testing she offered an EMG, but said she was sure it wouldn’t find anything.
CBC and metabolic panel recently normal
Tested moderately high ANA, nucleolar pattern, and “equivocal” for rheumatological factor igm
Negative for everything else in AVISE autoimmune panel (lupus, etc)

Help me help my doctors?
posted by lgyre to Health & Fitness (18 answers total) 6 users marked this as a favorite
Have you been tested for herpes? Like, any of them?
posted by Young Kullervo at 12:06 PM on September 12, 2019

did you get the EMG? have you been to a kidney (?) doctor about the utis?

unfortunately, i don't think there's a way to speed up the process, unless you happen to see exactly the right person at exactly the right time. and as you know there is often a long wait for specialists.
posted by misanthropicsarah at 12:15 PM on September 12, 2019

No, I haven’t been tested for herpes. I don’t have other symptoms of herpes, but that might be worth looking into.

I think I’m going to get the EMG. The doctor was pretty much discouraging me from doing it, but it seems like it might be the next step I can take. And I guess part of what I’m wondering is if there are other specialists I should even be trying to see, considering that neurologist and rheumatologist (recent lab testing) have been dead ends so far.
posted by lgyre at 12:30 PM on September 12, 2019

The mouth sores make me think of Bechet’s (though you don’t list some of the other main symptoms). Have you ever taken steroids and noted your symptoms improved? Unfortunately I don’t think there’s any way to speed things up, unless you’re just lucky and get referred quickly and appropriately. But as noted above, this may be a diagnosis of exclusion that will require time to sort out.

Wishing you well.
posted by stillmoving at 12:45 PM on September 12, 2019

Some ideas, both wacky and not:

Spend a month or two abroad specifically for the purpose of seeing medical professionals. A full-service medical center for expats in, say, Thailand may be an option. Or a clinic somewhere in Europe, if they have the kind of doctors you need. But this is a pay-out-of-pocket option.

Spend some time (I think 1-2 weeks is common) at a Mayo Clinic in the U.S. The idea is that all your doctors are in one place and are used to working together. For people who are having a hard time getting a diagnosis, this is definitely a thing. Not sure how insurance works for Mayo Clinics.

Find a professional health advocate to come with you to your appointments. They will help you get the results you need and make sure the doctor is giving you answers.

Emphasize your symptoms at your appointments. Say the words "this is severely affecting my quality of life." Say "this has been getting worse for 10 years."

Ask your doctors about their decision-making process. Ask "How are you ruling out Diagnosis X?" "What makes you think it's unlikely to be Diagnosis Y?"

Based on what you described, I'd look for a second/third/fourth/fifth opinion from a neurologist. Maybe try a neurologist with a background in a secondary field, like nutrition or physical therapy or chronic pain.
posted by danceswithlight at 12:45 PM on September 12, 2019 [2 favorites]

I haven’t lived in the us for ten years, but, is it perhaps better not to have a diagnosis before your insurance lapses so that you don’t have to say you have a preexisting condition?
posted by catspajammies at 1:32 PM on September 12, 2019

Have you had your ferritin tested? Mine has been super duper low - enough to cause symptoms - without causing anemia before.

Can you see/have you seen a dermatologist for the eczema and mouth sores (try to go when you have an active sore)? It seems like sometimes things that look like eczema are actually autoimmune skin issues, which may aid a systemic diagnosis if appropriate.

Look up Mast Cell Activation Syndrome - it’s hard to prove, but if it looks like a maybe, it’d be worth seeing an allergist who treats it if you can. You’d need a blood tryptase level, but I think more diagnostic is if a mast cell stabilizer medicine helps with your symptoms (especially skin rashes, temperature problems, and maybe the neurological stuff). If you and your allergist are willing to do a trial of Cromolyn or similar that could help. It wouldn’t hurt to have an immunoassay done either (IgA, IgM, and IgG levels, plus vaccine titers) especially if you get sick often. Immune issues and autoimmune issues can often be related.

Are you having any GI issues? Do you notice anything related to diet? Have you tried an anti-inflammatory diet? It may be a long shot but it seems like food allergies (both the epi-pen-requiring IgE kind and the more nebulous non-IgE kinds) can cause all sorts of weird symptoms.

Also, some gentle unasked for thoughts from someone who has many close relatives with various autoimmune diseases and is now working hard for a diagnosis for my son’s crazy food allergies: sometimes you won’t get a diagnosis. Sometimes no one will be able to answer all the questions. I think the most important parts are - Do they take you seriously? And can they help you manage your symptoms even if they don’t know why you’re having those symptoms? To whatever extent you can let go of the idea of A Diagnosis that will explain everything and is the necessary first step to healing, the better. With the right help, you can get better even if there’s not an obvious diagnosis. Best of luck to you. This stuff is so hard.
posted by bananacabana at 1:35 PM on September 12, 2019 [4 favorites]

Your symptoms seem pretty congruent with post Lyme disease syndrome, and I think it might be worthwhile to try to find as conventional as possible doctors who take it seriously, and are actually trying to treat it instead of throwing up their hands in despair.

Johns Hopkins might have such programs, for example.
posted by jamjam at 2:21 PM on September 12, 2019

This sounds like what I have, which is Mast Cell Activation Syndrome. It started getting bad for me about two and a half years ago after a spontaneous spinal CSF leak, but in chasing down all of my symptoms etc. and connecting with an expert, it’s probably something I’ve had my whole life, and explains pretty much all of my weird, confounding symptoms (including a 5-year bout with what was diagnosed as chronic fatigue syndrome when I was in college).

Before I knew what was going on was MCAS, I had a constant, year-long UTI—but, like you, I always tested negative for bacteria. I had a constant low-grade fever, a lupus-like rash, mouth sores that came and went, and heart involvement that was diagnosed as pericarditis even though that wasn’t a slam-dunk. I became even more sensitive to the sun, and heat, and wind, and just being alive while outside. I also started having anaphylactic reactions to antibiotics, food, chemicals, you name it. A CSF leak friend who also has MCAS sent me this checklist of symptoms and urged me to look into it (figure 4 here, the validated questionnaire https://www.wjgnet.com/2218-6204/full/v3/i1/1.htm). I had nearly everything.

I was seeing a urogynocologist for the neverending UTI, and I brought up MCAS, and she said that she sometimes prescribed antihistamines for her patients with interstitial cystitis due to mast cell degranulation. So we tried it: she prescribed hydroxyzine. Within a few days of taking it, ALL of my symptoms began to improve. No fever! No UTI! The constant nausea and pelvic discomfort was tolerable! My heart wasn’t stabbing me in the chest! It was amazing to me that a freaking antihistamine could help at all, let alone make me feel that much better. So that was a huge clue that I was on the right track: antihistamines are primarily what’s used to treat MCAS, and my positive response was clinically relevant.

I eventually saw a specialist, Dr. Afrin, who had me tested at a specific lab in New Jersey, and ultimately definitively diagnosed me after my results came back with elevated histamine in multiple urine samples and the highest levels of heparin he’d ever seen (heparin is made and released by mast cells). (A note: Elevated tryptase is something they look for, but it’s usually found in people with mastocytosis, which is “too many mast cells,” and not MCAS, which is “the normal amount of mast cells, but they’re all angry.”) So I had my diagnosis. It explains everything from the weird health things of my childhood to the CFS I had in college, to even my predisposition to having that spontaneous spinal CSF leak. As he put it, “What’s more likely, that you have 20 random things wrong with you that no doctor can ever pin down? Or that you have one thing that can present in a myriad of ways?”

An easy way to see for yourself if you respond to antihistamine treatment is to try it: most people with MCAS take an H1 (like Claritin) and an H2 (like Zantac) every day, twice a day. (I only take hydroxyzine, an older mildly sedating H1, because it’s all I can tolerate—the other stuff I have allergic reactions to. But it’s kept me out of the emergency room for a year and a half, so I’m sticking with it.) You could try that and see how you feel, and if you feel improvement, that’s something you can share with your doctor. Some people also take Quercetin, a supplement that is a mast cell stabilizer.

Mostly it’s important to see a doctor who understands MCAS. I see an allergist locally for my hydroxyzine prescription, but I have to go to a specialist for real disease management. Seeing a specialist for the diagnostic process is important, too. Many, many labs are not able to run or interpret the tests you need done at the levels of sensitivity required, or they have bad practices (not keeping urine samples refrigerated, etc.). A specialist will know which labs will be able to perform the tests best. In terms of general info, Mastattack.org is a good place to start.

And if you have any questions or just want to chat/compare notes, message me!
posted by mothershock at 3:45 PM on September 12, 2019 [11 favorites]

I was going to say that you reminded me of a friend with MCAS, but that friend is mothershock, so please just read her very informative answer!
posted by ocherdraco at 3:57 PM on September 12, 2019 [2 favorites]

Lemme know if I am wrong, but I don't see any testing for gluten intolerance/celiac disease. If you're not already gluten-free, demand a blood test. It's one of those things that doctors never test for and I don't understand why. It's the first thing I thought of when I saw your symptoms.
posted by esmerelda_jenkins at 5:37 PM on September 12, 2019

To add: Brain fog, fatigue, skin issues, frequent headaches/migraines, vitamin D deficiency, and mouth sores are all very common symptoms of gluten issues.
posted by esmerelda_jenkins at 5:42 PM on September 12, 2019

Could be vitamin B deficiency. Get shots rather than pills in case of intrinsic factor issues that interfere with absorption. Pills do nothing for me. If you drink alcohol, this will certainly exacerbate low B levels. After about a month or so of shots weekly, both a B complex and b12 alone, my numb fingers, aches and weak fingernails improved tremendously.
posted by waving at 7:52 PM on September 12, 2019 [1 favorite]

Interstitial cystitis (your UTI-like symptoms, sans infection) is also an indicator of gluten issues, in addition to the above symptoms. Like others have said though, you may not get an answer even with testing.

I have many of your symptoms too, got tested for celiac twice and don’t have it but I sure as hell know that I’ve got something related to ingesting gluten and manage that for my own wellbeing regardless of what the chart shows.

Good luck!
posted by iamkimiam at 11:33 PM on September 12, 2019 [1 favorite]

I think it is important to see a general physician or general practitioner in a situation like this, as you have a lot of multi-system symptoms that need holistic evaluation and specialists can often have trouble seeing the forest for the trees. I would consider this before taking any suggestion for a specific specialty based on speculation.
posted by chiquitita at 11:36 PM on September 12, 2019

Consider seeing an infectious disease specialist to follow up on the lymes and also test for other possible infections. I believe there has been several new discoveries in tick borne illnesses in the past decade and a lot of them still have limited labs that can process tests, but infectious disease specialists would be the one up on all that knowledge.
posted by WeekendJen at 6:17 AM on September 13, 2019

Very sensitive to temperature...my fingers go numb while others are comfortable is a symptom of Reynaud's. the treatment is really just managing it.

I have had autoimmune symptoms for 25+ years. Some of the symptoms were weird and severe and I got tested and treated for specific stuff. I complain, I get tests, I get told I'm okay, and some health care 'professionals' get pissy and ask if I want to be sick. No, but I'd like to be able to walk without pain. However. I don't want the 1st line treatments for autoimmune diseases, which are meds with side effects. So I treat my symptoms.

There are things you can do to feel better and there's no down side.
Stay hydrated; your urine should be no darker than apple juice. Dehydration can make your heart rate wonky.
Take Vit D not necessarily a megadose.
Take a multivitamin with minerals, eat nuts and dried fruits to get potassium and magnesium. I supplement magnesium to address muscle cramps.
I eat meat weekly because some of my symptoms seem to indicate low B12; this has been helpful.
I realized I'm lactose intolerant, gave up dairy, and that really helps the inflammation. I did a week of an elimination diet, then a month, then it was clearly a good idea to make it permanent.
Severely reduce sugar in your diet.
One doctor put me on low dose thyroid meds, and it helps a little. My thyroid is a bit low, thyroid meds have low side effects.

I believe you. There are many women with autoimmune symptoms and diseases, and this doesn't get the attention it needs. I have had docs that take it seriously, docs that don't, and changing insurance stuff means I don't have continuity of docs. Focus on what you need to feel better.
posted by theora55 at 7:16 AM on September 13, 2019

Mast cell activation is an interesting possibility that I had never heard about. I don’t have any digestive symptoms, but I am sensitive to histamine-containing foods! So that’s curious.

Celiac is one of the first things I looked into (forgot to mention that), because I agree, my symptoms do sound a lot like that, but no. I do actually eat a high nutrient density, low sugar, gluten and dairy-free whole food diet now, though. It helps a lot even though I don’t have celiac issues, especially if I also sleep well, avoid stress and get regular moderate exercise. I didn’t even mention all that and I rarely mention that to doctors because I don’t want to be taken even less seriously if they don’t believe in that sort of thing, but it definitely helps.

I should probably just keep up with all that because it works for me well enough most of the time, though sometimes it’s tempting to let my symptoms run wild for a while in case that helps to figure something more conclusive out. It’s less that I even expect any kind of cure or medicine as that I would love to be able to explain my symptoms to others and also feel validated in my fairly stringent lifestyle choices.

I appreciate the thoughtful responses and tips here, though...good luck to everyone out there in similar boats.
posted by lgyre at 1:51 PM on September 15, 2019

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