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.

Becky, Volunteer Mentor | @becsbuddy | Jan 19, 2021

In reply to @sunshine21 "I see specialists but I still don't know what is wrong....Hello!I don’t know if anyone is..." + (show)

@sunshine21

I see specialists but I still don't know what is wrong....Hello! I don’t know if anyone is going to see this but I’m losing hope. I have seen some specialists but I still don’t know what is wrong with me. It all started a few years ago in grad school. I started to feel sick every once in awhile but I blamed it on my migraines and uterine fibroids. but now it's like is it my brain? my hormones? what is it?!Out of nowhere, I started having bad ear aches and an ENT doctor told me I might have a jaw issue, called TMJ and referred me to a specialist. So, I started getting treated for that. Later, I had bad pelvic pain and was told my uterine fibroids were huge and that I had to get a surgery done to remove them so I got a robotic myomectomy+endometriosis was found.Two years after that, I woke up one morning with an intense neck pain. A few days later, I woke up with this numbness that started with my fingers and radiated all the way up to my face (half of my body). I was able to move that side but it was completely numb for a few minutes followed by an intense muscle pain, headaches, and chills that lasted for hours.That incident used to happen randomly and on any given day but always in the morning, in bed, minutes upon opening my eyes. The episodes kept happening without a warning but later progressed into visual disturbances and sparkles. There were moments where I’d lay in bed and my vision used to tunnel and almost close up. That is when I used to quickly sit up for the tunneling to disappear. My vision used to tunnel every time I stood up and with a lot of other disturbances. I also started to not be able to hear well every time I’d turn my head. My head was constantly in pain, I used to feel this insane pressure in my head and nose, like it is about to explode or as if someone was filling it with air or water.It did not stop there, one time, I woke up one morning and half of my face went numb and I couldn’t feel or move it, it was just stuck for a few minutes.After seeing many doctors during COVID. I was told my optic nerves were swollen and I had something called pseudotumor cerebri and possibly migraine aura or hemiplegic migraines. I was prescribed Diamox and Emgality. They both helped me in a way but I’m still feeling ill and experiencing symptoms that doctors aren’t sure what they are. There are times when they ask me to go back to my primary care doctor which is a total waste of time because they want to help but they are not sure how to as they’re not specialists themselves and have referred me to specialists. I’m at lost…I’m currently experiencing a constant pain in my right shoulder blade, facial parasethias, or pinching, I feel warm patches on my skin, sudden red knees, sometimes my joints hurt, the numbness on my hands and face, strange tremors or trembling in the back of my head sometimes face (I don’t see them but feel them), chest pains that come and go, flashes in my peripheral vision every time I blink or move my eyes from side to side.Is this some sort of an auto immune disease or a hormonal imbalance or something that have not been discovered? I had an MRI/MRV/MRA and a spinal tab. They have not figured out why I have pseudotumor cerebri and they did not really look other than trying to rule out brain cancer I guess. I wonder if something else have caused pseudotumor cerebri and is not idiopathic; making it a symptom of something else instead of the final diagnosis. Does Mayo Clinic have some sort of a place that one can go to where a doctor can run all sort of tests and figure this out once and for all? instead of going from one specialist to the next and back to a primary care doctor? I’m at lost here and totally losing the will to live…. Any help or input is truly appreciated. Thank you!PS: Sorry for any typos or grammatical errors!

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@sunshine21 Hello, it sure does sound like you have an autoimmune disease, but what kind is still a mystery. It can take doctors almost 3 years or more to figure them out. Most symptoms can be vague and not related. You said that the doctors diagnosed pseudo tumor cerebri which also fits with your symptoms. Have you been under treatment for very long? Have things gotten any better?
You’ve seen many different types of doctors—have you seen a board certified rheumatologist? They have extra education in autoimmune diseases. I’m actually under care of an autoimmune neurologist, but I did see a rheumatologist once I knew that their knowledge included autoimmune disease.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278127.

Please check out the autoimmune discussion group and see what others are doing to get diagnosed.
Will you stay in touch and let me know how you’re doing?

oldkarl | @oldkarl | Jan 20, 2021

Stumpjumper, I do not have the package you have but a vastly different mess. I have Gelsolin -> Amyloidosis,-> Myeloma -> Cancer. This is enough for me. But I also have Fukutin Limb Muscular Dystrophy, and about 50 more genes of disease that just add to the crap. I know my days on earth are getting short, but I will keep on keeping on as long as I can. Because I have not been able to get a COMPLETE gene sequencing and discussion, I have cost my insurance companies and organizations around $1,000,000 fighting disorders that did not have to be fought, if Medicare would simply have put up the money for the work, I would have avoided most of it. Cardiac, nerves, bones, brain,... everything. So the thing I believe you need to do is get a thorough genetic study by Nebula or one of the other organizations capable of doing this. Through my initial work, not yet complete, I have learned that every tissue, liquid, exhale of my being is impacted by my genes. Tongue, skin joints, spine, toe nails, esophagus, liver, kidneys, everything, is beaten on by these diseases. Ankylosing spondylitis, chronic leukemia, anemia, inherited hypercryotemperaturepurpura, multiple sclerosis, cafe'-au-lait disease. And so many more. And most of these have cohort ratios of less than fewer than 1(one) in 1,000,000 persons. But for my purposes, all these have only one ratio. 1 to 1. Me.

Ginger, Volunteer Mentor | @gingerw | Jan 21, 2021

In reply to @sunshine21 "I see specialists but I still don't know what is wrong....Hello!I don’t know if anyone is..." + (show)

@sunshine21

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@sunshine21 Welcome to Mayo Clinic Connect. It sounds like you have had quite the time of it, and have documented your symptoms well. I have found that journaling and writing down what is going on is a great way to alert your medical team of things as they happen, and allows a pattern, if there is any, to be seen.

Here is a link that will help you to figure using Mayo Clinic for your health concerns: http://mayocl.in/1mtmR63 As you can see, you do not need a doctor referral as far as Mayo is concerned, but your insurance may want you to get one. It sounds like your PCP would be agreeable to get that for you, if needed! Which campus of Mayo Clinic are you closest to?

How are you managing on a day to day basis? How are you, today? I hope you will let me know what you decide to do, and how we can help you.
Ginger

2011panc | @2011panc | Jan 21, 2021

In reply to @sunshine21 "I see specialists but I still don't know what is wrong....Hello!I don’t know if anyone is..." + (show)

@sunshine21

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@sunshine21 After reading you post, this is what comes to mind. Have you seen an eye specialist. Have you seen retina and/or optic nerve specialists? Some of what you are describing is included in things I have read about eye issues. The other thing that comes to mind is a possible neurological problem, but you need a specialist. Those are the only ideas I have. I hope you find answers soon, as well as relief. Blessings.

kb1942 | @kb1942 | Feb 5, 2021

Back in the 1970s, I had many of the problems you report. It took years for my PCP to finally hit on the problem-- allergies. My allergist was the guy who signed the diplomas certifying Board Certified Allergists, so I think he knew his business. All illnesses trigger a response from the immune system. That releases a chemical than causes inflammation (swelling) of some or all (the flu) body tissues. Allergies over stimulate the immune system in the absence of illness and also trigger swelling, almost always in the nose (hay fever), but it can be anywhere in the body. Hence, allergy symptoms can be almost anything and everything, and are often mistaken for illness or disease.

I think you mentioned coughing and flem. I had that too. It was allergies, and here is sure fire to diagnose allergy from the color of coughed up flem-- allergy flem is either the color of milk or clear like water. Disease caused flem is greenish or yellowish in color.

Go see a Board Certified allergist, or do a little home diagnoses first. Go to the drug store and buy the cheapest antihistamine you can find. This is almost certian to be a pill with a very long two word name starting Chlor… Maleate, a very safe drug unless your are over age 65. Take one. If you do not feel better after 2 hrs, take another. Repeat until you either feel better or worse.

Even if you confirm allergies bay the home test, go see an allergist to get checked for food allergies. I can blow up my blood pressure and heart rate by eating pizza.

Its an instructive lesson about the quality of medical care that apparently none of the so-called “experts” you have consulted has been expert enough to suggest checking for allergies.

oldkarl | @oldkarl | Feb 5, 2021

Stumpjumper, after this long it is time to try a different tack. Seems to me that a simple search with some credible DNA sequencing outfit such as Ambrygen.com or Nebula or Sequencing.com will tell you a lot of things that you DO NOT have. And then you can begin to look in OMIM.org and Ensembl.org for things the have reason to suspect. Then Mayo or some other clinic can sort out your signs and symptoms. Well, and treatments, if there is any. But I think there is not much point looking until you at least begin the DNA search. And you will also find that a lot of well-meaning medicos know very little about these diagnoses.

Becky, Volunteer Mentor | @becsbuddy | Feb 5, 2021

In reply to @sunshine21 "I see specialists but I still don't know what is wrong....Hello!I don’t know if anyone is..." + (show)

@sunshine21

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@sunshine21 Haven’t heard from you in awhile and was wondering how you’re doing. Have you been able to learn anything?

Ingegerd Enscoe, Alumni Mentor | @astaingegerdm | Feb 6, 2021

@sunshine21 - At this point in time I recommend you see a Neurologist and Ophthalmologist to be cared for properly.

rashida | @rashida | Mar 9, 2021

@stumpjumper - Noting that you did a lot of outdoors activity like bike riding ... could you possibly have Lyme disease as a result of tick bite(s)? Lyme disease and fibromyalgia are very difficult to diagnose because there are so many ambiguous symptoms.