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Undiagnosed Medical Conditions, Small Steps to Diagnosis

Do You Have an Undiagnosed Medical Condition?

Medical conditions that go undiagnosed or misdiagnosed can cause feelings of hopelessness and anger for a patient and their families.  I was reading an interesting post in KevinMD.com concerning a chronic misdiagnosis in a patient who was finally, after a year, correctly diagnosed with Crohn’s disease.   Reading this article, I thought about a close friend who is also struggling with an undiagnosed medical condition, despite several visits to see the family doctor, consultations with specialists in four different areas, several scans and blood tests. Why do some diseases and medical conditions take so long to be diagnosed?  Looking closely at  the two medical cases I can see some reasons why.

CASE 1:  Several Trips To Emergency Department Didn’t Yield  Answers

If you read the medical case  from the patient misdiagnosed with Crohn’s disease here are some possible reasons why she was misdiagnosed by six specialists:

1.  It appears she never went to see her primary or family doctor, if she had one.  Thus, her misdiagnosis happened during each of her six visits to the Emergency room.  Each emergency visit pushed her to see specialists on the spot having to make a diagnosis while she was sick and in pain.

2.  She went to the Emergency Department when her pain became unbearable (6 times over the year) rather than seeking an opinion of her medical illness when she felt well.

3.  The specialists she saw in the Emergency Department focused on their specialty domain and failed to look at overall illness of this patient.  A general practitioner is trained to look at a patient this way, while a specialist focuses on their speciality.

4.  One specialist should have diagnosed her correctly;  further testing in this domain would have led to answers sooner.

5.  Providing family history as part of the medical exam was crucial in this patient’s case. Crohn’s disease is often seen in family members, thus it has a genetic component. Her case was eventually diagnosed because a family member was recently diagnosed with this disease and the specialist honed in on this vital information and ordered the correct medical tests for diagnosis.

Case 2:  Undiagnosed Medical Condition But Small Steps Will Lead to Answers

As I mentioned, I have a close friend who is struggling with an undiagnosed illness.  However, I feel she is on the way to finding out what is wrong with her health.  What is she doing right?

1.  Seeing her family or primary doctor on a regular basis.  She is not giving up and is pushing for more explanations/tests on what is causing her medical issues.

2.  Keeping a track of her symptoms; keeping her blood results and scans all in a file which she brings to each specialist.

3.  Seeing and following up with the specialists that her family doctor suggested she consults with.  No answers from four of them (in different domains), but I feel confident that specialist number five will be the one to finally give some answers.

4.  Doing her own research in what she thinks the problem might be. With this my friend feels proactive rather than inactive.

5.  Taking a look at her overall health and doing steps to stay balanced and well such as eating a healthy diet, exercising regularly, and stress releasing techniques.

6.  Having and using a good support system with family and friends to lean on.

And lastly, don’t give up hope.

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Warmly, Mary

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15 Responses to Undiagnosed Medical Conditions, Small Steps to Diagnosis

  1. Arlene Ditzler October 3, 2012 at 15:23 #

    Dear Mary, For over 5 years, my 43-year-old daughter has had every blood test & scan imaginable multiple times, visited the ER consistently — all result in “nothing showed up.”. Her stomach is distended (she looks 5 months pregnant), she is in extreme discomfort and pain that radiates on her left side from low to high under her rib cage. She is a single Mom and teaches austic children. Her nights are often sleepless. Years ago, she was diagnosed with a hiatal hernia, mitral valve prolapse, and a cyst on her pituitary gland that affects her hormone levels. This is monitored every 6 months. After having her daughter 5 years ago by C-Section, things got worse. It appears (after conferring with other Moms & researching symptoms) that she has dystasia (sp?)–a condition where her stomach muscles did not knit back together. As you can see, I’m not real clear on exactly what the entails. She has an appointment to see a general surgeon at a university hospital in Philadelphia. Do you think that is a good next step. Thank you so much for any attention you are able to give our concern.

    • mbrighton October 4, 2012 at 00:02 #

      Hi Arlene, First thanks for your comment. These university hospitals in Philadelphia are the best in America, your daughter will receive the best advice on her problem. I do know someone else in Pau (who I believe) had the same problem as your daughter with her stomach muscles that did not knit back together. She ended up getting a mesh on her abdomen to keep everything together. You have to know that if you go to see a surgeon, they give advice on operating. They are experts on this. If they think she has dystasia and that her problem could be repaired with surgery, they will recommend this.
      My friend never had stomach issues like your daughter has. This is terrible. I cannot imagine not being able to sleep due to pain and having constant distented stomach.
      I am sure that your daughter sees an endocrinologist (hormone doctor) because of her need to take hormones? Has she seen a gastroenterologist?
      If she hasn’t seen either of these doctors, why not get an opinion from them?
      Since your daughter’s problem started 5 years ago, things seem to be linked to either her pregnancy or C-section? Was her C-section okay? Did she recover well without infection?
      I would recommended your daughter expand her medical options outside of the ER and make some appointments (if possible) with some specialists that can help her understand what is going on. In the meantime, good luck with her appointment in Philadelphia and let me know how things turn out for her.
      Best to you,
      Mary

  2. mike February 6, 2012 at 21:31 #

    mike again mbrighton My neurologist said stress possibly conversion disorder mri unremarkable

    • mbrighton February 6, 2012 at 22:46 #

      Hi Mike, I cannot believe it. What do you think? I have been hearing so much about conversion order lately. Have you been following the stories about conversion disorder in New York? Conversion disorder is something I have been reading about a lot lately trying to help a friend. If the MRI is unremarkable, this is a clear sign that something is hitting your body, but it hasn’t shown up by altering your brain. This is a positive thing. All of us seem to be under a lot of stress lately, but severe stress or hidden huge emotions due to past trauma can put a big toll on your body. I hope that your neurologist is leading you to some good support and you feel that you are heading in the right direction. Please keep in touch and let us know how things are going.

  3. Jeanne February 6, 2012 at 19:33 #

    Hi Mary-
    I have been experiencing facial pain for about 20 years. I have had sinus surgery twice, been on antibiotics for possible sinus infections, have seen allergists who say I don’t have allergies, and I now use over the counter allergy and/or sinus pain to mitigate symptoms. The most recent ENT says my sinuses are open wide (maybe too much so) and I don’t have a sinus problem. Her comment was that it may be that something is having an effect on my mucous membranes, so we are trying product to reduce inflammation. It is maddening. Sometimes I think people believe I am making it up.

    • mbrighton February 6, 2012 at 23:04 #

      Dear Jeanne, Don’t give up hope! Be strong and try to keep an open mind on what is going on. It must be difficult to live with these allergy symptoms/sinus pain but taking over the counter medication for sinus pain over a LONG period of time is also not positive for your body. Sometimes our environmental environments can be a source of stress on your immune system. Even small environmental triggers can bring on sinus pain and constant rhinitis (running nose). Even over 20 years these outside stimuli (like mold, perfumes, pollution ) can wreck havoc with our immune system and health.
      Allergy testing has its limitations. It is not always accurate and cannot always test everything that is affecting our immune system (allergies are a result of our immune system fighting against foreign stimulation it doesn’t like). The fact that your sinuses are clear now and open show that you don’t have an apparent sinus issue at the moment, even if you still feel the pain is there. Maybe it is in your mucus membranes, and it is good to try and see if medicines can help with this, but taking these medicines long-term is again, not beneficial for your overall good health.
      Have you consulted with any type of alternative medical fields? Naturopath? Chiropracter? Homeopathy? Cranial Osteopathy (to help drain your mucus membranes and clear pathways for draining mucus in your sinuses.) Perhaps if you are not getting answers in the traditional medical field you could look at a consulation with an alternative medical professional.
      Sinus pain is awful. Any pain is awful. Keep in touch and let me know how things are going. I really recommend trying to look outside the typical medical field, only take medicines for your sinus pain when you really cannot bear the pain anymore, and to look at your environment and overall health. (What happened 20 years ago to trigger this onset?)
      Best to you, Mary

  4. mike January 3, 2012 at 03:40 #

    Medical new
    Michael
    male 32 years old
    1980 when I was 2 I had A seizes after A high fever was hospitalized for one day
    1991 when I was 12 had migraines for about a years and A half starting with numbness then followed by migraines hour later. Seem to be induced by athletic activity.
    2004 I had A bought of migraines. I seen my doctor but the migraines stopped after two mounts without any intervention. That same year some numbness and notable walking defenses. Bladder frequency problems 25 to 30 times A day went to, two different urologist with many test but know help. Bladder frequency has been a steady symptom since 2004
    2006 heart palpation’s breathlessness
    2008 heart palpation’s breathlessness seen cardiologist. gave me A stress test. test came back fine. The next week my leg starter giving out on me.Spasms
    then all the systems below progressed quickly.
    2008 the systems would be strong for about three to four week then symptoms would be mostly gone. then pick back up week or so later.
    2009 to 2010 my systems last five to six mounts then reduced system for only for A two to three of weeks.
    Walking has become more difficult I fall 2 to 3 times a day
    most of the weakness and numbness is in my right side but progressing to my left
    2010 to 2011 sustained debilitating. Relapse and remission are les defined .symptoms more fatigue walking difficulty’s falling dawn cumin

    Daily cumin steams
    Bladder frequency > 15 to 20 times a day
    Numbness > comes and goes legs arm
    Weakness > in my legs mostly in right leg. One to two times a day I will fall dawn when both legs give out.

    Fatigue > Comes and goes rest does not help tire easily
    Eye problems > dubble vision one eye crossest my eyes dart often threw out the day. Left eye dominate blurry vision some times
    Balance > general balance problems and turning corners
    Speech > slur speech trouble getting words out
    Spasm > hands arms and legs
    Shaking > usually when trying to grab or reach for something. not fine trimmers but shaking of hands or arms
    Coordination> loss of dexterity
    Swallowing > difficulty swallowing lump in throat
    Mental> concentration learning new things deficits
    Walking> can’t walk for. Clumsy limp

    Less command systems
    Rapid heart beat
    Breathlessness
    Depression
    Facial pain right cheek nerve
    Test 3 EEG test they were abnormal in the temporal lobe
    Nerve function test right arm showed signs of carpool tunnel
    lab all normal
    three G.P 3 neurologist.3 urologist1 cardiologist 1 psychiatrist 2 university’s

    • mbrighton January 4, 2012 at 13:47 #

      Hi Mike, Sounds like you have a lot going on and some of your medical symptoms seem to be related to each other. I see that you saw a neurologist. What did this specialist say? Did they do an MRI to rule out any brain problems? Are you overweight? Mental stress? I guess if you are seeking answers in this article noone can figure out what is going on with your medical problems. How frustrating. Let me know what the neurologist said and medical tests they performed on you. How are things going in the meantime? Keep in touch.

  5. jacqui August 21, 2011 at 19:50 #

    I have been ill for 18 months,seen a cardiologist and 2 neurologists-still no answer,main symptoms is breathing problems with exercise intolerance,fatigue,co-ordination problems.intermiten speech slurring,brain fog.my GP said he thought I had heart murmer,hence visit to cardiology unit,result was that he didnt think that was the problem,I did the exercise stress test and nurse had to stop it after minute or so as alarm went off as my heart rate went very high and I struggled to breathe.
    First neuro said it was anxiety even though my GP agreed I was not at all anxious. Second one said I didnt need any further tests as it could be CFS as my GP suggested.I have read a book on CFS,nothing seemed similar to what I suffer.
    I thought it may be underactive thyroid,and have had 2 courses of thyroid medication-but very low dose.2 different GPs said differnt blood results are normal and stopped medication.
    Now I am left to wait to see specialist at CFS in December,even though nothing Ive read about CFS seems to tally with my symptoms .Every day I struggle to breathe properly,despite doing breathing exercises (I did yoga before I was ill so have experience of breathing tecqniques).

    I cannot work and have limited mobility,Ihave not had a brain scan to rule out MS or anything else neurological,or a consultaion with a respiratory specialist.Im left with a vague diagnosis of ‘CFS’
    I have no support,no diagnosis.I am now getting more depressed as time goes by and I am not able to do normal things.
    Jacqui

    • mbrighton August 24, 2011 at 15:14 #

      Dear Jacqui, Have been thinking about your situation. So sorry this has been happening to you. It is extremely frustrating to feel unwell and noone seems to have any answers. Also, I know from working in the healthcare system in the UK (specifically at the NHS in Nuneaton) it is not always a quick turnover to see the doctors/get the tests that you may need to see or have done. Personally, the fact that you have not had any brainscans (the best is a MRI) this might be an avenue to pursue. This tests are often invasive and expensive but can be necessary to rule out any neurological disorders. If you do not have any relief in the near future I would try to push your appointment closer or emphasize even stronger the need with your doctors to figure out what is going on. Do you have any history of asthma? Allergies? Are you overweight? Any major life stresses before this happened? The slurred speech issue is frightening. To me this indicates more of a neurological investigation. Let me know how you are doing this week. Mary Brighton

  6. CJ July 21, 2011 at 09:01 #

    Hello Mary. I just came across your site after googling undiagnosed medical conditions. I have dealt with the same issue twice: Pain, Redness and Swelling that starts in the face and hand/feet extremities. Throat tightening and spells of adrenaline rushes. Then migrate into slight redness throughout the whole body. I have been seen by many many specialist from allergist to cancer specialist. And I’ve gone through two primary MDs. The first bout of symptoms lasted approximately one 1/2 years. The current bout is coming up on two years. With about a two year interval between the them. Both primary physicians have order every blood test known to humans and nothing. I’ve had multiply CT scans soft tissue scans. i’ve had a limp node removed and checked for lymphoma, leaving a significant scar. A request was sent into the National Health Institute for a possible undiagnosed medical condition candidate. Rejected. I have major depression as my whole life, every aspect, has been negatively affected from these symptoms. I am in therapy, where we talk about the frustration I have about the constant symptoms, and no diagnosis. My temperature is normal, blood pressure is normal. Everything else shows normal, so to the medical community is doesn’t look to be of urgency, thus they keep telling me they can only threat the symptoms. But nothing they proscribe treats the symptoms, they just space me out! Both primary physicians have throw theirs hands up in the air, and have said they have done all they can do with no findings from the test and specialist but all the physical symptoms are obvious. I have no family. I have one friend who knows everything and hears everything over and over and over and over again. I’m tired of the pain and other symptoms and I am tired of talking about them. Both of the physicians committed themselves to following this through until something was found. We have had arguments because when all the test they had order, did not find results, they abandoned ship. And here is why:

    I had hair transplants that did not turned out good at all. So in an effort to fix what is a regular occurrence in the hair transplant industry (You only discover this after you become one of their victims) It was suggested that I have two lazer hair removal treatments to remedy the situation. Several months post the lazer treatments I began to have the symptoms I described above. I sought medical help the first time as well and I was told I had rosacea, for which I was put on a regimen of antibiotics. They did not help the symptoms. In fact it made them worse. I seen allergist and other specialist the initial time as well. I spoke to the clinic where I had the lazer treatments, about my concerns that it might be the lazer that was causing the symptoms. They offered me a resounding no that it could not be the lazer because no other patient has ever-ever complained of these symptoms before. So that was a year and a half of hell before the symptoms just one day, disappeared. I had wondered if it had been a fluke and I was just so grateful to have it gone. So when I went in for the second round of the hair removal treatments, I was assured that it was perfectly safe and that there was nothing to worry about. Now. Here I am with all the same symptoms again and the medical reports from the previous time and it is being dismissed, discounted and disowned as even a consideration of the cause. Are doctors so afraid to speak up and out on an issue that they are willing to let a patient, excuse me…a human being walk around in misery? The doctors have contributed (Added) to the misery just by their sheer cowardliness and lack of commitment to uphold the hippocratic oath: To Never Do Harm. So, I am curious to hear your response on this experience? Thanks for your time.

    • mbrighton July 26, 2011 at 06:25 #

      Hi! I apologize very much for this late reply. Been thinking so much about your situation about the situation of others that experience health problems where doctors do not know the diagnosis nor can help figure out a medical solution to health problems. Really, I feel for you and others going through this. There have been other readers who have written with other diagnosed medical issues and it is a very frustrating process with no easy answers.
      To me it sounds like the laser treatments may have had a trigger to your immune system overloading with subsequent health issues. However, it is true that hair laser treatments don’t often have side effects. But every time we do something to our bodies there is an outcome. Even mental stress can proclaim a physical issue later on.
      It sounds like the doctors have pursued many avenues for you to get a real diagnosis without avail. So continued disappointment and frustration.
      I have done some research on the side effects of laser hair removal and there is not much written. But there must be others out there who read this and can tell a story. I will continue to brainstorm of some ideas/suggestions that might be able to help you. In the meantime, I would suggest that if you can financial pay for some alternative treatments such as acupuncture, homeopathy etc…this might help you to get to the root of the issue. Some of these medicines have a practioner that spends over an hour to get a detailed health history and then follows up with some soft medicine. Sometimes health insurance plans can cover these treatments. Try anything that doesn’t harm you but steer away from weird therapies that are not substantiated.
      Will be in touch. Hoping all is going well this week for you. Best, Mary

    • mbrighton August 2, 2011 at 19:09 #

      Hi CJ, Haven’t forgotten about you. Very little information concerning laser treatments and the after side effects that you seem to have been victim to. Just a couple more questions:
      Are you on any medications? In particular for depression? Do you suffer from panic attacks? Do you have any digestive disorders such as pain after eating or feeling lightheaded after a meal? Are you within normal weight?
      Rereading your comment several times, it seems to me to be some type of allergic response to something. Perhaps the laser treatments put a inbalance in your immune system, triggering an allergic response to either food or something in the environment. Tightening of the throat, redness and swelling appear to me as an allergic response. However this is my own personal opinion as a dietitian who works with clients with food allergies.
      Are you in the middle of one of your attacks right now?
      Let me know these answers to the above questions and will see if anything comes to light.
      In the meantime, take care of yourself and hang in there.
      Mary

  7. Edward Crowe April 18, 2011 at 11:24 #

    Hi

    I suffered a severe allergic reaction over thirteen years ao to two anti-depressants, stupidly I did not go to the emergency rooms, I called my GP and he said stop wasting my time and then went to see another GP and didn’t get examined. The reaction carried on and for many days however decreasing in intensity. Unfortunately it seemed to cause permanent damage to my respiratory system. My body went into shock and left me completely exhausted. I have never fully recovered and have never had any conclusive answers from my GP’s, specialists and the only tests I have had are resting ECG’s and standard blood tests. As you can imagine I am starting to lose hope as to whether I will ever have a diagnosis. I have basically diagnosed myself with Chronic Fatigue Syndrome but wonder if it could be something else. Would be nice if you could advise where to go from here. Thank you.

    • mbrighton April 18, 2011 at 18:50 #

      Hello Edward,
      First so sorry that you have experienced this allergic reaction that seems to really have destroyed your immune and respiratory system. Do you live in the UK? What other symptoms do you have besides exhaustion? Do you have respiratory ailments that continue? Do you have achy muscles or joints? What was the allergic reaction that you experienced 13 years ago? Was it just respiratory, hives, your throat closing up? Please if you want to you could comment with the answers or email me directly at: mbrighton@brightonyourhealth.com
      I can tell you, just off hand that an allergic reaction to something is a response from your immune system. A severe reaction could have “messed up” your immune system at a deep level. Also, if you have the financial means, sometimes answers to more complicated cases such as yours are achieved at alternative types of health professionals: osteopaths (if you live in the UK they are very good) or a doctor that specializes in wellness and can prescribe more blood tests other than the standard.
      Have you had your thyroid checked? (as an example of a blood test that doctors might not put in the standard blood test). If you are suffering from depression you can also experience severe fatigue and feel that you are living in a fog.

      Finally, be persistant…sometimes it means just “gently screaming” to the doctor to really push for answers or at least referrals to an allergist, internist, endocrinologists, etc. so that your case could be more deeply studied.

      Keep hopeful and you would like to continue commenting, don’t hesitate or you could email me at the address above.
      Mary

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