Where to turn for more diagnosis/treatment when local referrals fail?
January 29, 2010 12:33 PM   Subscribe

A friend of mine has had, since childhood, a set of medical symptoms that defy diagnosis. She recently finished another round of appointments with specialists in our area to no real effect and much frustration. She's asked me to help her figure out where she might turn for additional diagnosis and care (ie, ways to locate/contact best-in-class specialists/etc, not non-traditional medicine). I'm pretty healthy and have never had this kind of interaction with doctors, so I'm at a bit of a loss.

Some symptoms appear to be neurological (extreme muscle tension and tension headaches in response to stressors, extreme sensitivity to tastes/smells); some are digestive. If she eats almost anything other than fruits, vegetables, and meats she ends up with severe stomach pain and swelling. Dairy is OK; bread is emphatically not; breaded foods like fried chicken are fine, however. Spices/sauces tend to do terrible things.

She's visited numerous neurologists and gastrointestinal specialists. Latest result: Aleve is more effective and safer than ibuprofen at treating the headaches; she has no food allergies, no celiac's disease, no detectable lactose or gluten intolerance. Nobody's sure if the symptoms are connected, or if she's got several discrete things going on. The latest effort is a food diary with the aim of generating a more conclusive list of things she can and cannot eat, but she's understandably wary of trying new things when the consequence is hours of pain.

With that background, where would one turn to get further diagnosis/treatment when the locally-available avenues aren't working? More local referrals? Trying to find someone at a national center or something? In Magical Fiction World, we'd be trying to set up an appointment with Dr. House, but since this isn't Magical Fiction World. We're in Phoenix, AZ.
posted by Alterscape to Health & Fitness (17 answers total) 1 user marked this as a favorite
I believe NIH takes on extremely unusual cases. But I think it has to be distinguishably unusual.
posted by anniecat at 12:40 PM on January 29, 2010

From US News and World Report.

If it is Neurology - then yeah, they rank the Mayo Clinic the best.

Understand - research doctors are busy people, meaning either her case is compelling, interesting and extrodinary, or you are going to be scheduled as a low priority. Either way, if she's gone through St. Josephs (ranked #9 in the US with a score of 41.9 in Neurology), you have 8 more choices which are scored as "better" in the US - but that's all.
posted by Nanukthedog at 1:00 PM on January 29, 2010

There's a Mayo Clinic in Arizona - has your friend considered them?
posted by jasper411 at 1:01 PM on January 29, 2010

She's going to need to be willing to travel. Most of the best hospitals in the country are in the Northeast or West Coast (SF and LA), with one or two exceptions like Mayo in the straight up North. Unfortunately, there aren't any nationally prestigious medical schools or hospitals in the mountain states that I'm aware of. So anything she can get in Phoenix is going to be about as good as she can get anywhere except one of the best facilities in the country.

I'd recommend asking her doctor for a referral to a nationally-reputable hospital like Mayo, Reagan at UCLA, Cleveland Clinic, Johns Hopkins, New York Presby, etc. All of these are associated with medical schools, and all of them are doing cutting edge medicine.

This is going to be expensive. If she doesn't have good insurance, it will probably be prohibitively expensive. That's just how this is going to be, I'm afraid.
posted by valkyryn at 1:10 PM on January 29, 2010

UCLA Ronald Reagan isn't bad on gastroenterology or neurology, and it's not as far as, say, Johns Hopkins, but has your friend considered a rheumatologist/ specialist in immune disorders?
posted by fairytale of los angeles at 1:12 PM on January 29, 2010

Teaching hospitals and specialty clinics are a good idea. However, not all doctors in a department are either equally good or equally knowledgeable about whatever areas are most useful to your friend. If she decides to pursue this, she should look on the hospital/clinic's website, see which of the doctors have what interests and sub-specialties, and google the doctors who seem most relevant. Then try to make an appointment specifically with a person who is senior, has a lot of publications, and/or seems to publish research papers and conduct studies on topics relevant to your friend. Also another way to approach your friend's problems might be through how she got them - it must be either congenital/genetic or acquired, right? So possibly a doctor in medical genetics, immunology, or infectious diseases might be able to provide insight as well.
posted by unsub at 1:24 PM on January 29, 2010

I agree with fairytale of los angeles -- if she hasn't already, I would suggest a rheumatology consult first, then try to see someone at the Mayo Clinic in Scottsdale.
posted by scody at 1:25 PM on January 29, 2010

IANAD, but have any of her doctors considered fibromyalgia? Pain, headaches, and IBS are common symptoms. There isn't really a test for it though, but if none of her doctors have mentioned it, it's worth asking about. Also, nthing a rheumatologist.
posted by melissasaurus at 1:36 PM on January 29, 2010

This may come off as a bizarro suggestion, but has she considered a Psychiatrist?

I'm not making the suggestion that this is 'all in her head', but when I had my own issues with my mystery disorders (which ended up being Dystonia and Spastic Paraparesis), a Psychiatrist helped me in these ways:

1. Therapy in terms of discussing all the stress and strain of what was going with me. I also had genuine issues with Depression and ADHD that he was able to treat, thus separating out those issues from my other, non psych-related ones.

2. Being able to be a connection to other medical resources, to the point where he could recommend other doctors to see and/or other paths to investigate.

3. When I would run into yet another Specialist who would look at me for 5 minutes and then write it off as 'Psychsomatic', I'd tell him that my Psychiatrist, who is an expert in Psychosomatic disorders disagreed, and with my blessings, he'd be more than happy to discuss this diagnosis with them. For whatever reason, they never took me up on this offer. I don't know if this has ever been an issue for her, however.
posted by spinifex23 at 1:44 PM on January 29, 2010 [8 favorites]

Has she considered seeing anyone who might treat her body AND mind together? The focus here seems to be purely on physical symptoms. What's happening in the rest of her life? Has she tried any kind of therapy at all?
posted by Paris Elk at 1:53 PM on January 29, 2010

Dr. Thomas Bolte - "The Real Dr. House"
posted by djb at 2:02 PM on January 29, 2010 [1 favorite]

I've mefi-mailed you with a great holistic doctor in Baltimore.
posted by zia at 2:27 PM on January 29, 2010

Anecdotal for sure: I had similar symptoms until my early twenties. I saw many doctors, from about the age of six onward, and never had a good diagnosis. Most of them said it was stress. In my late teens, I had crippling headaches and fatigue about once every six weeks or so, culminating in a quick bout of diarrhea that ended the headaches. Low grade fever. Sleep paralysis (!) Sensitivity to foods, but I could never figure out just what triggered it. Tried elimination diets a few times, did not help. When my gallbladder burst at the age of 22, my doctors said they had never considered checking that due to my age and overall health. Turns out, I had a diseased gallbladder all my life. I think this can be checked with an MRI. FWIW.
posted by raisingsand at 3:41 PM on January 29, 2010

Seconding holistic medicine, specifically TCM/acupuncture.

Chinese medicine tends to treat body and mind issues as a singular issue (so there's not really a such thing as psychosomatic disease, just disease/deviation from normal). If you find a solid practitioner, there's a good chance that he/she will recognize your friend's symptoms as a pattern that may be unclassifiable by Western doctors, but has precedent in Chinese medical histories/literature (and can therefore design a specific treatment plan).
posted by TG_Plackenfatz at 5:58 PM on January 29, 2010

If numerous specialists and tests have turned up nothing physical wrong, it's just conceivable that there isn't. Perhaps more tests and specialsts aren't the answer.

While no one can guarantee that there isn't some rare and strange physical cause, it's dramatically more likely that she has 'functional' illness, i.e. symptoms with no ascribable
physical cause.

Yet more testing is not risk-free: there are false positives and risks from tests.

Diagnoses would likely be 'chronic daily headaches', 'chemical sensitivities' (i.e. panic attacks triggered by smells) and irritable bowel syndrome.

Treatment would likely involve discontinuing daily analegesics, education regarding the symptoms, lifestyle improvements (e.g. exercise, sleep, stress), and possibly medications.

A primary care practioner with whom she has a good relationship should be the main person managing her case, and focus should be on treating and coping with the symptoms.

Functional illness is one of medicine's more common problems... she is not a rare snowflake (if it's any consolation).
posted by kevinsp8 at 6:57 PM on January 29, 2010 [1 favorite]

I would recommend seeing some sort of non-traditional doctor. Naturopath isn't really the right word, but someone who is probably in private practice, is not 'in network' for any insurance, and includes nutrition as part of many treatments (but has a medical degree).

I suffered from similar mystery ailments for years and had no success getting any headway with several doctors. I finally saw a doctor as I described above who among other things ordered many blood tests - like 20 different things requiring 10 separate vials worth. It really bothered me that no previous doctor had been that thorough with getting an overall picture of my health and ruling things out. Said doctor also connected mild symptoms that I had no idea were connected to my overall issue. My initial appointment was 2 hours and included everything - symptoms, possible hereditary problems, nutrition, mental state, lifestyle, stress, sleep. Was the first time I felt a doctor understood how the body works as a whole and examined me and my symptoms within that framework.

anecdotally, my problems were related to sleep issues (even though I had had a sleep test and was told there was nothing wrong with me). More here...could possibly cause your friend's digestive and stress problems.
posted by ghostmanonsecond at 8:52 PM on January 29, 2010

My ex-boyfriend's mom had similar symptoms--eating fruit or any type of sugar was what did it to her--they would make her incredibly ill. She's had horrible headaches, been run down, fatigued--for years.
Apparently, she's had Lyme Disease all this time.
That's the most recent diagnosis they've given her, anyway. I think Fibromyalgia was considered a possible diagnosis before that. I think that's what the Mayo Clinic told her. But their treatments for that didn't help. The most important thing is to just keep trying different doctors and treatments until something finally helps.
posted by apis mellifera at 11:28 PM on January 29, 2010

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