Difficult case, several diagnosis, no solution yet
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.
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.
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!