Difficult case, several diagnosis, no solution yet

Posted by stumpjumper @stumpjumper, Tue, Jan 15 7:04am

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

Hello @stumpjumper, welcome to Mayo Clinic Connect. There is another active discussion that may be helpful for you to read through and meet others who may have some of the same symptoms.

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/

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

John

Hello Stumpjumper my name is Beryl …..I have been suffering for many years from Polymyalgia Rheumatica…..but have been lucky enough to have a Doctor that has seen me through the awkward trials of having one of these diseases and I am now at a stage where I understand my limitations and therefore can live a useful life….I am 79yrs old so didn't full ill in early life as you have…..
My reason for answering you without any way of helping you is to say that I have all the faith in the World that you will be looked after by the Mayo Clinic and that it will help you live with and understand what is going wrong and hopefully find a way out of your distress ….
I notice that John our mentor has given you some information that hopefully will help …..I hope you will keep in touch so that we can follow you're progress and be pleased for you when your health is beginning to improve ……just understanding what is wrong is a big step to regaining your life again
Best of luck Beryl

Hello I am 54 and have many of the same symptoms you do – extreme fatigue , muscle and joint pain and , rashes . I experience various degrees of severity but the symptoms correlate , as a result I get poor sleep ,and anxiety due to difficulty accomplishing work and personal tasks . I have been through several tests labs etc with no conclusive diagnosis . I do have herniated and bulging disc resulting in mild to moderate pain .
I have seen several specialists in the last few years as well but the care and recommendations I receive have been fragmented

I will be having appointments with internal med GI and derm this month at mayo and am hopeful that with mayos multidisciplinary collaborative approach to diagnosis and treatment it will result in a diagnosis and viable treatment strategy

Hang in there and don’t give up hope

I do believe diet exercise and stress management is helpful but my symptoms continue .

I now have to learn to pace myself and engage in different exercise such as walks and swimming that are more restorative .

Best wishes in pursuing appointment at mayo

@stumpjumper

@stumpjumper My names Linda @lioness Yes please call a Mayo Clinic there are several Rochester,Mn,ScottsdaleAz,and one in Florida They are great at diagnosis I have Fibromyalgia some of your symptoms sound like me with brain fog,muscle pain , and others .Your to Young to be in your condition so see if you can go to Mayo or a big University hospital Best of luck and keep us posted we care about you

Thanks for the heads up everyone! If anyone has an idea what might be going on / seen a similar case on their journey, please let me know!

@stumpjumper

Thanks for the heads up everyone! If anyone has an idea what might be going on / seen a similar case on their journey, please let me know!

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@stumpjumper: Like several other answers you have had above, some, but not all, my symptoms match yours. I was diagnosed with fibromyalgia about 18 years ago by a rheumatologist, and she was helpful in initial treatment with medications that took away some of the pain involved. This was at a time when fibro was still considered to be a "dumping ground diagnosis" (i.e. "not a real thing, but doctors give that diagnosis when they can't find anything wrong with you" – or a variation on that theme that I heard from several people, including one of my bosses). Right now, I take Celebrex (which is an NSAID) that she prescribed (but then moved away from our area – which is in SD – and we have yet to have another doctor to replace her) which is continuing to be prescribed by my primary care MD. I made an appointment in Rochester with Mayo in June 2015, mostly due to problems with restless legs syndrome, but I also listed in my top concerns (on a form they send you) the fibromyalgia. My first set of appointments was to a Sleep Center doctor, a Fibromyalgia Doctor, a psychiatrist, to a gastroenterologist, and a pharmacist (since I have had many negative reactions to several pills, AND, I wanted to make sure the supplements I was taking were doing some good and/or not reacting negatively with the prescriptions I was taking). I had excellent care and feedback from each department. All of those appointments occurred within a three-day period of time, and at the end, I had a plan of action and appointments to come back to the doctors who saw problems that were ongoing and need to be addressed. So, I encourage you to pursue the Mayo route as others have said. Especially, if you, like me, have been going to this doctor and then doctor or specialist, and feel like none of your symptoms are being addressed as a whole person.
I also wanted to add what I learned about fibro: the doctor I saw indicated that the current theory is that fibromyalgia is the result of several 'insults to the system . . . . and by insults that can be a surgery, a traumatic event, an accident, or anything that impacts the body in an intense way or has a significant impact.' When he said that, I could trace by the beginning of my symptoms to a year when I had finished school & had no job, was a single mother, and needed to have two surgeries in three months: a hysterectomy and a cervical fusion. Also,after my surgeries, a long-term relationship ended due to impatience with my ongoing hospitalizations, so in addition to worry about finances, there was this additional emotional component involved. I add all this additional information since it sounds like you may have symptoms of fibromyalgia, and possibly Chronic Fatigue . . . . it turns out that I had some of those same markers to justify a second diagnosis of chronic fatigue along with fibro. I also attended classes while a Mayo which spanned a 2 1/2 day period of time that spoke to exercises, medication, etc. I found it very helpful and affirming. I notice that John has referred you to another group that may provide you with support and ideas. Another issue that you mentioned that I also struggle with is the sleeplessness which is primarily due to my restless leg diagnosis. I don't believe you also have that condition; however, my Sleep Center doctor has told me that going long periods without sleeping (and I have had months and years where I have only been able to sleep two hours per night because of the intensity of the leg issues) can create insomnia alongside the reason for not sleeping. There is a Cognitive Behavior Class (CBT) that is offered at Mayo for people with insomnia – it is possible you could get some ideas from that. I do know that not sleeping exacerbates all kinds of other issues.
Good luck – I hope you find ALL the answers you need – don't give up though since I believe the answer is out there. Hopefully at Mayo.

@stumpjumper , hello! This is from Mamacita, a Volunteer Mentor here on Mayo Clinic Connect. May I say, sir, you have certainly done your homework! Congratulations for discovering what you do NOT have. I wanted to post and let you know that many others have been in your situation and come out on the right side. I had unrelenting abdominal pain, bloating, and I was tested for everything under the sun. Nada. Nothing. No answers. However, so many things were ruled out, the doctor was able to say that we were going to treat me for IBS and Diverticulitis. He said that since the Gluten free diet was helping me feel better, to continue with that. I am fortunate to be able to eat every vegetable on the planet, and I love it. I have medicines I take whenever I have a really bad flare. Every day has a certain amount of pain, but I am used to it by now. I have a bag of tricks I count on whenever I need it.

Here's hoping for the best for you and that you get your answers very quickly! We are here for you!
Mamacita

@beryl

Hello Stumpjumper my name is Beryl …..I have been suffering for many years from Polymyalgia Rheumatica…..but have been lucky enough to have a Doctor that has seen me through the awkward trials of having one of these diseases and I am now at a stage where I understand my limitations and therefore can live a useful life….I am 79yrs old so didn't full ill in early life as you have…..
My reason for answering you without any way of helping you is to say that I have all the faith in the World that you will be looked after by the Mayo Clinic and that it will help you live with and understand what is going wrong and hopefully find a way out of your distress ….
I notice that John our mentor has given you some information that hopefully will help …..I hope you will keep in touch so that we can follow you're progress and be pleased for you when your health is beginning to improve ……just understanding what is wrong is a big step to regaining your life again
Best of luck Beryl

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@beryl I saw your post about how you have been suffering from PMR for years. I came down with PMR and GCA in 2015 and have been losing hope about ever being “well” again. Tomorrow I will see a new rheumatologist because after being with my doctor for many years he is retiring and I am scared. My doctor knew me and my illnesses so well that I always felt safe even after going through years of treatment. Not sure why I am writing other than knowing that I am not the only one who took longer than a year or two to get better made me feel less hopeless

I understand your fear of going to a new doctor after having one that knows you well. I’ve been working with my doctor from the very beginning, going through all the tests for MS, Churg-Strauss, Wegners, vasculitis, RA, etc. since 2012. I can’t imagine going to another doctor. One way to help your new doctor know about your medical history is to get a copy of your medical records, clinic notes,etc so he/she will know what treatments have worked and hasn’t in the past. Hope you can build a good relationship with your new doctor!

@bt56

@beryl I saw your post about how you have been suffering from PMR for years. I came down with PMR and GCA in 2015 and have been losing hope about ever being “well” again. Tomorrow I will see a new rheumatologist because after being with my doctor for many years he is retiring and I am scared. My doctor knew me and my illnesses so well that I always felt safe even after going through years of treatment. Not sure why I am writing other than knowing that I am not the only one who took longer than a year or two to get better made me feel less hopeless

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I felt like you having PMR for so long…..it's ten years now……but soon realized when I started to join in with the Mayo Clinic Group that I was not a freak …..well when you go and the Doctor and are told that it only lasts for eighteen months to two years and then you are well past the post and can't understand why you still have it and in my case very badly …..I found myself saying that I was better than I was because of this ……but of course the blood tests told them differently …..I have to say I felt so much better about myself after I found out that we are not all the same when I comes to illnesses and how drugs affect you ……As for the new Doc look on it as a new start , you have all the knowledge of your illness and must speak up if what the doc says is not right and doesn't go along with what has happened to you …..Doctors are learning from us and it is up to us to give them all the information we can ….having said all that good luck and keep smiling ……Beryl

@beryl

I felt like you having PMR for so long…..it's ten years now……but soon realized when I started to join in with the Mayo Clinic Group that I was not a freak …..well when you go and the Doctor and are told that it only lasts for eighteen months to two years and then you are well past the post and can't understand why you still have it and in my case very badly …..I found myself saying that I was better than I was because of this ……but of course the blood tests told them differently …..I have to say I felt so much better about myself after I found out that we are not all the same when I comes to illnesses and how drugs affect you ……As for the new Doc look on it as a new start , you have all the knowledge of your illness and must speak up if what the doc says is not right and doesn't go along with what has happened to you …..Doctors are learning from us and it is up to us to give them all the information we can ….having said all that good luck and keep smiling ……Beryl

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@bt56, welcome to Mayo Clinic Connect – I second what @beryl said. It's up to us to make sure we let our doctors / rheumatologists know how we are doing, our symptoms, how the drugs are working or not working, etc.. I get a new doctor pretty much every 2 or 3 years at our Mayo Family Clinic and I get to bring them up to speed on my different health issues. They have and read our medical charts but there is a lot of information that's not in the charts. Getting a new doctor can be a little scary but I would look at it as an opportunity to help them help you. @roch has some great suggestions in a post in the the following discussion:

Groups > Visiting Mayo Clinic > Your Tips on How to Get Off to the Best Start with a New Specialist
https://connect.mayoclinic.org/discussion/your-tips-on-how-to-get-off-to-the-best-start-with-a-new-specialist/?pg=1#comment-240765

Good luck and just remember one day at a time, one step at a time.

Liked by becsbuddy

@bt56

@beryl I saw your post about how you have been suffering from PMR for years. I came down with PMR and GCA in 2015 and have been losing hope about ever being “well” again. Tomorrow I will see a new rheumatologist because after being with my doctor for many years he is retiring and I am scared. My doctor knew me and my illnesses so well that I always felt safe even after going through years of treatment. Not sure why I am writing other than knowing that I am not the only one who took longer than a year or two to get better made me feel less hopeless

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@bt56

This is elderdiana. I do not seem to know how to reply on my device. If this message gets to bt56 I also am being treated for GCA since summer of 2015. I take prednisone and methotrexate, have blood tests every 6 weeks, got down to 3 mg from starting at 60 mg, then back up to 5mg, comin g down again monthly, fingeres crossed. I think I should see another Rhumy for second openion. My doctor of 3 + years wants me on a new drug that is not even approved intravenously for giant cell artrritis. But life goes on.

@elderdiana

This is elderdiana. I do not seem to know how to reply on my device. If this message gets to bt56 I also am being treated for GCA since summer of 2015. I take prednisone and methotrexate, have blood tests every 6 weeks, got down to 3 mg from starting at 60 mg, then back up to 5mg, comin g down again monthly, fingeres crossed. I think I should see another Rhumy for second openion. My doctor of 3 + years wants me on a new drug that is not even approved intravenously for giant cell artrritis. But life goes on.

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Is the new drug he wants you to go Actemra? I have been on that for almost one year. The thought was since I had flare ups every single time I tried to lower my prednisone that the Actemra would make that process easier. Well, I was able to get off of my methotrexate and leuvocorin completely since beginning Actemra, but although I have gotten to a lower dose of prednisone (currently 7.5mg) I am also having a flare up so I know I should go back up but going to see the doctor first to see if he agrees

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