Difficult case, several diagnosis, no solution yet

Posted by stumpjumper @stumpjumper, Jan 15, 2019

Hi everyone

As I have been ill for more than 3.5 years and have already applied for an appointment at Mayo clinic, I would still try to give mayo clinic connect a try. Maybe someone has a clue as to what might be going on with me. It is always good to use the experience and expertise of people around the world when it comes to finding solutions for seemingly difficult cases (I can't get rid of the feeling that my case is not so difficult after all, we just haven't found the piece that is linking it all yet). Moderators, please feel free to move this topic into another subgroup if you think it isn't in the right place. So here we go:

I am 30 years old, male, from Switzerland and considered myself healthy all my life. I was building a career, did lots of sports, travelled the world and we where ready to get married in 2017 – when in June 2015 my symptoms showed up to stay. I’d like to give you a short overview on how this illness developed over time, on my current symptoms and on what medical testing has been conducted so far.

General course of development:

At first things deteriorated gradually. Everything started in 2015 when I was recovering from a few days of having the flu and went back on my road bike, which went fine. A few days later, I had this sudden onset of fatigue. I woke up in the morning and thought that something is really wrong. I've already had episodes where I felt sick and very tired during the 12 months before June 2015 with symptoms similar to what I was about to experience later on. But these episodes usually subsided after a few days and at that time it was still possible to exercise as the tiredness would usually go away a few minutes into training. Everyday life was never really affected at that point.

In June 2015, this changed dramatically. Endurance sports were not possible anymore but I was still able to play a little bit of tennis if I pushed through and to go for short walks. Working was still possible even though it needed a huge effort from my side. I was ultimately forced to completely stop working in May 2016 after gradually reducing my workload beforehand.

So over the following months I slowly started developing all the other symptoms mentioned in more detail below: Ear ringing and sleep disturbances were the first to arrive apart from the extreme exhaustion. Brain fog showed up. My fatigue and malaise started getting worse and worse. I then developed all the muscle aches and pains. Episodes where I felt like having the flu with general malaise but without a fever started arriving more frequently. At first they came for a few days every month and then increased to several days a week where I felt like this. Then the digestive symptoms came along. It was as if my whole body had started to break down and more and more systems were getting involved. Medical testing that was done by my family practitioner during that time did not render any conclusive results.

I was then diagnosed with Hashimoto's in 2016 by thyroid ultrasound (very small thyroid volume of 4ml total, hyper-perfused tissue, free T-values in the low normal range, no antibodies). I was started on synthetic T4 but thyroid medication did not bring any relieve. I experimented with hormone brands and types from T4-only, T4&T3 synthetics, T3-only and finally ended up on a combination of synthetics and NDT. Most symptoms are still persisting and did not even improve much. Thyroidectomy performed in October 2018 relieved local symptoms but the systemic ones have persisted so far.
I tried different diet changes as well. I have been gluten-free for almost two years now and even experimented with an autoimmune protocol diet for more than 3 month. Neither that nor any supplements did bring about any change.
A short trial with Prednisone (5mg daily) in order to see whether this may calm down inflammation had strong adverse effects. I ended up with panic attacks and hypoglycemia.

Symptoms overview:

I am mostly exercise intolerant. Even 20 minutes of easy walking triggers fatigue. It is as if someone pulled the plug on me and I could literally fall asleep at the side of the road. I used to do several hundreds of kilometers on my road bike. It feels like this fatigue isn't muscle, cardiovascular or respiratory related, it rather seems like my central nervous system would go haywire. Within the last 7 months I have at least been able to reintegrate some light strength workout into my daily routine again (push-ups, sit-ups and core exercises in moderate quantities). Also, I have been able to go for short strolls but I rarely feel well while doing it - my brain seems to get fogged and fatigue creeps in.

Then there is this feeling of malaise, like having the flu but without a fever although the doctor I saw recently measured 37.9 degrees Celsius within my ear (slightly elevated temperature). This feeling is not here every day but comes and goes in waves. When it gets bad, the only thing I can do is to lay down and rest.

I’ve had several episodes of sudden hypoglycemia within the last 3 years. When measuring blood sugar levels, they then tend to be around 2mmol/l and the typical symptoms of shakiness, weakness, cold sweat, dizziness, extreme sugar craving, etc. appear. I cannot link them to anything, sometimes they seem to be reactive to meals, sometimes they happen late at night. Apart from that blood sugar levels seem normal. They have certainly never been elevated.

I get spells of ocular migraines (without pain so just the aura) that usually last for 20-30 minutes. I don't know what triggers them (hormonal fluctuation as the usually happen first thing in the morning?) but I do have them about 2-3 times a month, sometimes a few in just a few days, sometimes just one and a few weeks pass until the next one.

I get days where my vision gets blurred and my eyes are clotted with a yellowish substance in the morning. It does not seem to be related to the fit of my contact lenses I wear for my Keratoconus as these episodes usually pass after a couple of days.

I am having mouth sores quite often (usually 2 or three at the same time) that are really big and hurting badly. They tend to stay for about 2 weeks. They also seem to come and go in waves (see pictures attached). I was able to establish a link to fluctuations of thyroid hormone levels. Usually my ulcers are a good indicator that levels are shifting.

Furthermore, my tongue has a thick white coating and pimples, all of it mainly in the back half of the tongue. Also, my tongue always has teeth marks in it at the edges.

My voice often seems to be "covered" with a slimy substance after meals that I have to cough off.

I experience constant high-pitched ear ringing. Also I get spells of sudden hearing loss that recover after a few minutes (mostly just on one ear, but not always on the same ear) and dizziness that goes away after a few seconds or minutes. This also happens randomly.

My sleep is disturbed (non refreshing, light with episodes of vivid and bizarre dreams) and I feel hung over and poisoned upon waking in the morning.

I get muscle pain all over my body (mainly leg, back and neck, feels like the pain I had when I was growing as a kid or after an intense workout).

My skin is extremely dry and I get rashes out of nowhere (Urticaria like itchy bumps, exclusively in my face but without being able to identify the triggers).

My thinking is impaired as well as I am struggling with brain fog all the time. Feels like everything is far away and perceived through a thick fog.

I am mostly constipated with severe bloating and gas and sudden episodes of diarrhea that cannot be linked to food triggers (except very specific ones like grilled Tuna who gives me cramping and diarrhea within 30 minutes).

Overview of testing performed:

2015: I have been thoroughly checked for any heart diseases (ultrasound, normal- and stress-electrocardiogram) with no results.

2017 & 2018: I had gastrointestinal ultrasound and stool sampling with no conclusive results. Calprotectin, Alpha1-Antitrypsin and Eosinophilic Protein X were ones slightly elevated. Colonoscopy did not show any abnormalities.

2017: I have been diagnosed with leaky gut, candida overgrowth and SIBO by functional medical doctors and a gastroenterologist.

2015-18: Different Endocrinologists did extensive testing with no abnormalities apart from my thyroid (Hashimoto's) and testosterone deficiency compared to healthy males of my age.

2016 & 2017: Brain MRIs showed some abnormalities. The doctors saw several small, round, non-specific T2w/FLAIR-hyperintense white matter lesions (bi-frontal, subcortical mainly in Gyrus frontalis superior. With regards to differential diagnosis Microangiopathy seems unlikely, most likely these were caused by the ocular migraines I am experiencing.

2015-2018: Neurological examinations (the ordinary type of testing every doctor does when thoroughly examining a patient fort he first time) did not render any abnormalities either.

2018: I was extensively tested for infectious diseases. Everything came back negative (including Lyme, EBV, Bartonella, CMV, Tuberculosis, Rickettsia, Coxiella, etc.) except for Parvovirus B-19, which was IgG positive. Extensive stool testing for parasites (also rather exotic ones) was negative. CRP was tested on several occasion and always normal. Hence, acute infectious disease of any kind was excluded. I was also tested for Autoantibodies (ANA, ANCA) which all came back within the normal range as well. So are my Immuneglobulins IgG and IgE.

2015 & 2016: I even went to see psychologists and psychiatrists in order to rule out any possibly hidden stress-related conditions, although they have never made sense to me in the first place – again no results.

2017: I was put on different kinds of functional medicine treatments after different kinds of testing: e.g. IV-therapy, acupuncture and infrared-fever-therapy, the latter of which led to severe adverse reactions presenting as severe cramping, paralysis and paraesthesia which all resolved after heat was reduced. None of them improved my condition while some made me even worse. After 3 months of trying we put a halt to this.

Conclusion:

Apart from my diagnosed Hashimoto’s, there is nothing to put a finger on that could explain my current state of health. There are several pieces to the puzzle that in my opinion must all be somehow related. As a matter of fact, I have been incapacitated for more than 3 years now without really knowing what’s going on. This goes beyond frustration. I know that all of these symptoms are real. They are not in my head. And it truly is time to get my life back. Or at least for me to know what I am battling against and to get a chance to eventually conquer it.

So any ideas you might have, I am happy to hear. I have recently stumbled across mast cell activation, which could be a possible explanation. Any experience on that would thus be helpful as well.

Thanks for reading this and helping me improve!
Stumpjumper

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

leilanis | @leilanis | Feb 5, 2019

Hi. I can relate to your frustration of not having a diagnosis. It took 6 years for me to get one that seems to correct. I have fibromyalgia, really bad arthritis, and the latest: mast cell activation syndrome (MCAS). I have done a lot of research on MCAS and it’s treatment. My worse symptom is breathing (or not being able to). I don’t have any food allergies, but I have gastrointestinal reflux. No rashes, but itching more now. I am being seen by a pulmonary allergist and rheumatologist. I am on H1 and H2 antihistamines, prednisone, two inhalers with steroids in both and xolair. Still trying to get a handle on managing symptoms better but it’s slow going. http://www.tmsforacure.org has good information that might be helpful for you. Two main tests that is used to diagnose MCAS was negative for me. But that’s possible if they don’t do the tests during a flare. Anyway, I Live day to day with pain and breathing issues — those are the cards I am dealt. Hopefully someone will be able to figure out what is causing your symptoms or at least manage them. there is no cure for MCAS. I’d just be happy with being able to breathe without pain.

Sundance(RB) | @sundance6 | Feb 5, 2019

I got thinking after I posted my reply to mention that all of my symptoms point to Lyme Disease, but because of when the test was taken after taking antobiotics it couldn't be confirmed. But could it be Fybramyagia, Chronic Fatigue, Lupus, whatever, who know knows. My thought is that so many of us suffer so similar of symptoms, yet our doctors just stab in the dark.
I have gotten on some medication that for now helps like many of you. But many of you are still suffering! Why when Trillons of $$$ are being spent on research that dosen't seem to be answering what is happening to millions of us. Not only physically but mentally!
As for many of us this came out of the dark and struck us without warning!
I am so Lucky that my symptoms are so much lighter than many of yours. We all just need to send our Thoughts and Prayers to each other to helps us all!
Thanks,
Sundance 🙂

bt56 | @bt56 | Feb 5, 2019

@sundance6 you are right, It is very difficult to get a correct diagnosis for an autoimmune disease. For years I have been tested for Lupus and Rheumatoid Arthritis, Chronic Fatigue and many others. To top it off I have always been told that some people will never test positive for these disease but that doesn’t mean you don’t have it. In the beginning I was a young mother and wanted to b fixed right away so I could make it to the next baseball or basketball game but unfortunately I wasn’t that lucky. I have been in pain and total exhaustion for years. No matter what the diagnosis was at the time (and for most years it was fibromyalgia) the only thing that made it livable was having a doctor who did believe in treating the pain. He taught me the difference between addiction and dependence. He told me if I ever show tendacies toward addiction he wouldn’t treat me any longer. Never have I done that but I am definitely dependent. Without the medicines he gave me I would not have been working these past 25 years and I knew better than to take more than what was prescribed. Things got complicated when I came down with the two new autoimmune diseases in 2015. I think the steroids I have had to take to keep from having a stroke or losing my eyesight are far worse than narcotics. Steroids have made my life a complete mess. When they worked immediately after being on them for less than 48 hours they knew I had giant cell arteritis and and polymyalgia rheumatica. I also had a biopsy to confirm the GCA. Anyway, I don’t know what my point was anymore other than having a diagnosis doesn’t always help. I wish you the best of luck at finding the answers you are searching for and like you I believe that supporting each other is really helpful. I will keep you in my thoughts and I wish you all the best

nicoleg15 | @nicoleg15 | Feb 25, 2019

In reply to @sundance6 "Stmpjumper, I really feel for you! I have only been suffering the same as you for..." + (show)

@sundance6 This sounds like what U have, I got intestinal candida after taking a round of antibiotics in 2017. I still have it, the antifungals I was prescribed haven't killed it and the side effects are bad. Have you gone to a functional medicine doctor yet? They don't take insurance but it can be worth it to get a proper diagnosis. My heart goes out to you. I know what it's like to suffer and have no support.

nicoleg15 | @nicoleg15 | Feb 25, 2019

@stumpjumper This sounds like what happened to me. I had a very stressful job at the time, very physical and emotionally draining. I also during that time took an antibiotic for an upper respiratory infection.

I developed thrush in my mouth a week after the medicine was done. I usually get these with antibiotics but this time I didn't seek treatment for it. I thought it would go away on its own.

The infection went down my throat and into my stomach and intestines. I experienced chronic fatigue. I couldn't even get out of bed. I used to work out and run. I could run 5 miles, I weight lifted, and did Ariel sports. Now I could barely get out of bed. I had terrible panic attacks, and my head felt hollow. I couldn't sleep well at night despite feeling weak and drained. Whenever I are any grains or sugar my stomach would bloat up and I would be gassy and I would get this drunk feeling. Despite all this I cracked sugar. I would also get panic attacks after eating those things. It is hard for me to think and concentrate, I have brain fog as well. Lots of pain and inflammation throughout my body. My feet an legs feel sore and burning. I have itchy skin all over as well.

I'm still dealing with this now. I got a doctor 1 year later to diagnose me with yeast overgrowth however I've been on treatment medicine, Nystatin 2x a day for 4 months and the infection is still present. I don't know what else to do. I might be living with this the rest of my life. Try going to a Functional Medicine doctor in your area. They are the only ones who know about this disorder. Get specifically a: comprehensive stool sample for candida and parisites from them it's around $300-$400 and will test the DNA if microbes in your stools. It's more efficient than traditional lab tests done at Western medicine clinics. Also a urine acid test for candida.

John, Volunteer Mentor | @johnbishop | Mar 9, 2019

In reply to @jacii "Hello, I am a 33 year old female with health issues beginning in November of 2016...." + (show)

@jacii

Hello, I am a 33 year old female with health issues beginning in November of 2016. I am looking for direction as I am struggling with a diagnosis and support for my health struggles. I live in Ontario Canada.

My issue began with a severe attack of pericarditis. I was given indomethacin the first week, but when my doctor thought it could be gallstones, he wanted testing done that advised me to not take meds and eat for 3 days. The pericarditis became worse, where I was admitted to the hospital for 1 week and given steroids as it was believed the indomethicin wasnt working (although I stopped as advised).

For the next 3 months i was admitted 2 more times for the pericarditis, as every time i went lower on the prednisone I had pain too excruciating to bear. Within the 6 months after initial diagnosis, my back felt like broken glass, I had night sweats and felt awful.

My inflammation markers were through the roof, I had high white blood cells during this time. I had been tested multiple times for all the standard autoimmune diseases, all which came back negative.

I was finally able to go back to work in May of 2017, where I was then at 12mg of steroids (started at 40mg with multiple attempts to get lower)

From there I had a very slow taper, finally coming off them in December of 2018.

I went over a year feeling fine, but to back track to August 2018, I had other issues arise. I was short of breath, extreme fatigue and weakness, had muscle pulling pain come back, TMJ, and numbness and tingling in both arms and legs.

I had respitory test done, endoscopy, thyroid ultrasound, brain MRI, lower back MRI, all coming back okay. In February of 2019 until now, I am struggling with sharp pain of which I thought immediately was a relapse of pericarditis. Upon seeing my cardiologist, my tests do not show pericarditis and inflammatory markers are normal despite my sharp pain and aching shoulders. I am suffering now and have no direction. (No ssteroids, on high dose advil and colchicine)
I have seen a rheumatologist, cardiologist, hematologist, endocrinologist, neurologist all which have shrugged their shoulders as to what is going on.

My next step is to see an infectious disease specialist, as I would like to rule out lyme disease. I was in the forest picking mushrooms one week before all of this began. However docs also shrugged this off. I am also concerned about the inaccuracy of lyme testing in ontario.

It seems to most docs this could be auto immune related, but as mentioned I have tested for these antibodies on 3 occasions already. I am considering coming to the mayo clinic in Florida, but the cost of US health care is worrisome too.

Please let me know if you have any thoughts or direction with my issues. You could save my life. If you need more details on anything I can provide them.

Thank you

Jump to this post

Hello @jacii, welcome to Mayo Clinic Connect. I noticed you also created another new discussion in the Chronic Pain group. I'm tagging our moderator @ethanmcconkey to see if we should move your discussion and combine it with the following discussion so that it has more visibility and you can meet other members who are discussing similar problems getting a diagnosis.

> Groups > Autoimmune Diseases > Difficult case, several diagnosis, no solution yet
-- https://connect.mayoclinic.org/discussion/difficult-case-several-diagnosis-no-solution-yet/

You may also be interested in the following discussions and related video.

> Groups > Just Want to Talk > Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) treatments
— https://connect.mayoclinic.org/discussion/myalgic-encephalomyelitis-chronic-fatigue-syndrome-me-cfs-treatments/

> Groups > Autoimmune Diseases > Lyme Disease
-- https://connect.mayoclinic.org/discussion/lyme-disease-1/

There is a TED talk by Jennifer Brea who became progressively ill with myalgic encephalomyelitis. Have you seen it?
What happens when you have a disease doctors can’t diagnose
— https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

@jacii you mentioned you have considered going to Mayo Clinic Jacksonville Campus but were concerned with cost. Have you contacted them to find out any details? If you would like get a second opinion from Mayo Clinic, you can find the contact information for
the Minnesota, Arizona and Florida campuses here http://mayocl.in/1mtmR63.

Also, you can find out more about billing and insurance at Mayo Clinic here:
http://mayocl.in/2kk2hF8

jacii | @jacii | Mar 9, 2019

My inflammation markers were through the roof, I had high white blood cells during this time. I had been tested multiple times for all the standard autoimmune diseases, all which came back negative.

I was finally able to go back to work in May of 2017, where I was then at 12mg of steroids (started at 40mg with multiple attempts to get lower)

From there I had a very slow taper, finally coming off them in December of 2018.

Please let me know if you have any thoughts or direction with my issues. You could save my life. If you need more details on anything I can provide them.

Thank you

jacii | @jacii | Mar 9, 2019

My inflammation markers were through the roof, I had high white blood cells during this time. I had been tested multiple times for all the standard autoimmune diseases, all which came back negative.

I was finally able to go back to work in May of 2017, where I was then at 12mg of steroids (started at 40mg with multiple attempts to get lower)

From there I had a very slow taper, finally coming off them in December of 2018.

Please let me know if you have any thoughts or direction with my issues. You could save my life. If you need more details on anything I can provide them.

Thank you

Ethan McConkey, Moderator | @ethanmcconkey | Mar 9, 2019

In reply to @jacii "Hello, I am a 33 year old female with health issues beginning in November of 2016...." + (show)

@jacii

My inflammation markers were through the roof, I had high white blood cells during this time. I had been tested multiple times for all the standard autoimmune diseases, all which came back negative.

I was finally able to go back to work in May of 2017, where I was then at 12mg of steroids (started at 40mg with multiple attempts to get lower)

From there I had a very slow taper, finally coming off them in December of 2018.

Please let me know if you have any thoughts or direction with my issues. You could save my life. If you need more details on anything I can provide them.

Thank you

Jump to this post

Hi @jacii I want to join @johnbishop in welcoming you to Connect! As John suggested I moved . your posts to this existing discussion so that you can connect with others who have gone through something similar. Simply click VIEW & REPLY to get to you post.

@jacii have you undergone lyme testing yet? Why did your doctor's shrug this off?

sugarboo | @sugarboo | Mar 9, 2019

All I can say is WOW! There is someone out there like me! Thank you for sharing your story. After going through what you are going through , I found an alternative medicine doctor and she had me take name brand Diflucan 100mg 4 times a day for 3 weeks. 7am was the first 100 mg dose. After 3 weeks I was put on Flagyl for 2 weeks. The Diflucan is to kill the Candida and then the bacteria move in to those spots the Candida took up on your intestinal tract, so then you have to kill them. Let me tell you! A ton of anxiety 24/7 for that whole 5 weeks, but 10 days later when my body was able to detox from all the drugs? I felt like I had never get in my whole life and I though : “ wow! , this is what normal healthy humans must feel like”!!! But, I still haven’t figured out what causes the Candida to want to morph into their tentacle growing faze and hold on the the mucosal lining everywhere in my body, so 3 years later, I’m sick again. For me? I think it’s from a ton of root canals I have . 15!.
So personally , since your story sounds like mine, I think it’s the Candida that is wreaking havoc in you. They love to live on your nerve endings and that disrupts the pathways from your brain and everything starts malfunctioning. Candida causes MS ( multiple sclerosis) I’m positive! When ever I eat ANYTHING sweet, a teaspoon of homey even, within a few days I get super dinilitsti g muscle weakness and can barely function. Do I chop up a big clove of garlic and swallow with some water, and then have die off symptoms for a day, but then for a week, all The muscle weekends and other ailments subside and I feel almost normal. I have an ultra extreme diet. Low salicylate, super low carb, low oxalate, and only eat grass fed beef, broccoli, and a few other veggies. All cooked. I’m stable for now. But with the 5 years of research I’ve done and all the testing I’ve dine AND self experimentation? It’s either Candida albicans that has invaded your body and intestinal tract and/or Lime disease or other bad bacteria that has taken over your intestinal tract. It’s very difficult to figure out but I would bet on it that the Candida albicans yeast is a HUGE culprit!
So sorry you are going through all this. It’s awful, just awful, and unless you are in your shoes, nobody has a clue of how difficult it is on a daily basis. If you don’t know about biofilm breakers, please go study up. There are many natural ones that can break up the houses these bad bacteria build to protect themselves from your immune system. Just beware if you have a heart problem because all the biofilm breakers interfere with bad pathogens chemical communication system and also the good bacteria in our body, ( it’s called Quorum Sensing). When I take any biofilm breakers, it disrupts my own heart beat and makes me feel like my heart is going to fail). But if you don’t have an electric problem with your heart or any blockages in your arteries, you will probably be fine. You could take many different biofilm breakers and that would improve your health greatly! Serrapeptaste, is the enzyme that the silk worm uses when it turns into a butterfly and needs to break out of the cocoon. You can buy it for about $15. But there are many other ones too. Once you carrack open the biofilms with this stiff , the other medicine you need to take will be able to get to the bad bacteria that has been safe under their house ( biofilm). Ok I know this all sound weird, but trust me! I have search the internet until I was exhausted every day and I was able to find this info. Pub Med is a great site. Ok I’m sorry this is so long.. o want to share as much as I can because I hate that other people go through this and can’t figire it out. I hope any of this helps someone!

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