My neuropathy workup in Boston

I finally met a specialist in 2017 

Hi everyone, good to see you back here! 🌺 

In this post I take you back to 2017, when my second small-fiber neuropathy flare started, while I was living in Boston doing a postdoc at a large hospital. 

This is just a bit of Boston spam. A photo that Steve took while he was over visiting. 

I recommend to first read part 1 of this post, in which I wrote about how my neuropathy symptoms came back in 2017. Like in 2014, it happened about 2 weeks after a 'harmless' viral cold, this time after almost 4 years in remission. 

I left off writing about how I had gone to a fancy walk-in primary care clinic in downtown Boston, where I got a prescription for prednisone from a nurse practitioner. She had obviously never heard of autoimmune small-fiber neuropathy, and just did a few basic neurological exams to make sure I'm not having a stroke or anything immediately dangerous. 

I asked her to refer me to Prof. Maryanne Walker (not her real name) who is one of the leading international specialists on autoimmune small-fiber neuropathy. Coincidence had it, that Prof. Walker practices at the same hospital in Boston, where I was doing my postdoc. 

The clinic reassured me that they had sent out a referral, and that I would be contacted within a week.  

So I went home and started my prednisone treatment...

I was pretty freaked out, because first of all, I had never expected symptoms to come back at all, and secondly, I was living abroad by myself, not knowing my way around the local health care system. I was kind of in denial, and all I wanted at this time was for symptoms to disappear, so that I could pretend all this never happened. 

I was prescribed 1mg of prednisone / kg body weight, and in my weird state of mind, I just added another 20mg daily. Of course that was absolutely unnecessary, because 1mg/kg is a high dose, but I just wanted to make sure it worked and people do weird things I guess.....OH WELL.... 🙈

Prednisone did its job once again...

Luckily, prednisone did work very well again, and after about a week of treatment, I was able to walk home from work (about 30 minutes) in regular shoes without any major foot pain. During my first flare back in 2014, it took more than 3 months to do all the diagnostic workup, so after I finally started prednisone, it took about 3 weeks until I could feel a slight improvement and over 2 months until I could walk pain-free. It makes sense to me, that the longer you let nerve damage happen, the longer it takes for it to heal. 

This is a photo of my feet after a shower a few days into prednisone treatment. You can see that they were a bit red after being exposed to heat, but not as bad as they had been during my flare in 2014. I also bought my first pair of Ugg boots, which facilitated walking a lot, because the soft padding reduces pressure being applied to the bottom of the feet. 

But I did feel a bit beside myself during this time

Prednisone is a synthetic stress hormone, and it basically puts your body in a constant state of stress. At high doses it can even induce psychological side effects like mood swings and sometimes even psychosis. 

I generally tolerate prednisone quite well...

...but in hindsight I have to admit, that I was in a bit of a weird head space during this time. It's a weird feeling somewhere in between being super energetic, very moody, and totally exhausted at the same time. The tiniest things upset me a lot more than they usually would. On top of that, I could constantly feel my heart beating quite fast, and I was up every day at around 3 am without a chance of going back to sleep. 

Thankfully, I had told the nurse practitioner that I had trouble sleeping with prednisone the first time and she prescribed some anti-histamine sleeping pills. So at least I was able to fall asleep and get a few hours every day. 

So my neuropathy was doing better, but what now??? 

Obviously, I needed to be checked out by a neurologist. Prednisone was helping, but it's not a drug that you want to take long-term, especially not without any medical supervision. So I needed a plan of how to go forward with my treatment. 

Days past and nobody contacted me...

The clinic had promised that the hospital would call within a week, and that I did NOT need to contact them. However, after more than a week had past, I decided to give them a call to check on the status of my referral. Let me tell you, bureaucracy can drive you absolutely crazy anywhere, but they sure know how to in the US. 🤯🤯🤯

Turns out, they never received my referral...

I got through to some receptionist of the patient coordination center of the hospital, who told me that I needed to get my primary care provider (PCP) to resend my referral. 

So I called the walk-in clinic again, and they promised to resend it. But even though I paid about 400 USD for a 10 min appointment, they didn't manage to send it through, even at the second try. They insisted they had sent it, and the hospital insisted they had never received it. 

I asked the clinic to send the referral to me, so that I could send it or bring it in, but of course, they were not allowed to do so for legal reasons...🤯😡😡

I started to get really frustrated and was giving the hospital daily calls. But all I ever heard was that they can't help me without the referral, and that the referral was not there. 

Let me tell you....the combination of high dose predisone and the growing frustration was not a great combination. I remember one time, after I hung up the phone, I literally slammed my phone on the floor and then had to go pick it up in pieces....luckily it still worked.🙈   

Long story short...it was impossible to get a specialist appointment

They also informed me, that Prof. Walker was generally very booked out, so even if they did get my referral, they cannot guarantee a timely appointment with her.

This is actually a worldwide problem

I have now heard from so many more people with rare diseases all over the world, that they have to wait several months and sometimes even YEARS 🤯 to see a specialist. Specialists are few and far in between and all of them have really long waitlists. 

So I decided to give it one more try, and if that didn't work I would just go home to Switzerland and see Dr. Soland. Nowadays, I would probably just ask Dr. Soland for a Zoom call, but prior to the pandemic this was not something I thought of.... 

What a coincidence, that I worked at the same hospital as Prof. Walker...

I started to look into whether I could get an appointment via some internal processes for employees to receive accelerated treatment. 

Surely these hospitals wouldn't turn down their own employees in need??

Two days later I was notified that I could go see Prof. Walker the next day. 

I first went to see a nurse practitioner, who took another skin biopsy 

She took a skin punch biopsy sample from my upper thigh as well as a sample from my lower thigh from 10 cm above my ankle. When I had my skin biopsy done in Bern in 2014, they only took a sample from my lower thigh. 

I didn't receive the results from my skin biopsy until I was back in Switzerland, as the lab analyses these samples in batches once every few months. I later got the result below, showing that I most likely had small-fiber neuropathy. Density of my small nerve fibers was on the 10th percentile, and morphologically it looked like I had polyneuropathy. I find this quite impressive considering that I had only had symptoms for about 2 weeks by that time.

After the nurse practitioner had taken the biopsy, I went to see Prof. Walker in her office.

For the first time, I met a doctor who actually knew what I had...

...and it started to dawn on me, that it was probably a lucky coincidence that my second flare started while I was in Boston. This way, I actually had the chance to meet one of the few experts in autoimmune SFN worldwide. What are the odds that I would be working under the same roof as her...

And in hindsight, I'm so thankful that I didn't pack up and leave 

Prof. Walker had seen and published about patients with autoimmune SFN from all over the world, who had flown to Boston because they could not find medical treatment at home. And here I was, randomly working at the same place, sitting in her office...sometimes life really has its own ways. 

She was very kind and understanding. She also told me that her mother immigrated from Switzerland and that she is half-Swiss and that she collaborates on different scientific projects on autoimmune SFN with neurologists in Switzerland. 

She knew Prof. Wexler (not his real name), who I'm seeing today in Switzerland from conferences and research and pointed me in his direction in case I ever needed a specialist in Switzerland. I may not have found him without Prof. Walker, and I'm very thankful for that, because Prof. Wexler is great. 

I got a thorough small-fiber neuropathy workup

She did a detailed physical examination and asked me about all my symptoms. Given that I had been on prednisone for almost two weeks at this point, most of my symptoms had already subsided, but I showed photos of my feet from when it started and explained my symptoms.  

I also told her everything about my first flare back in 2014, and how we treated it successfully with prednisone, thanks to her publications. 

She agreed that all this definitely sounded like typical sensory small-fiber neuropathy. She also agreed that it must be autoimmune given that it responded so well to prednisone and that it happened after a respiratory tract infection both times.

Then she said, that I was an interesting patient, because she had never seen a patient with a relapse of symptoms after so many years.🤯 

On one hand it was great to hear that I was an interesting case to her, but at the same time, here I was with one of the few experts in the field and I had to hear that my case was unlike anyone elses.....🤯🤯🤯

After that I went and had a whole bunch of tubes full of blood drawn. By the way, all tests came back clear once again, but Prof. Walker said that this was expected as SFN is often a rule-out diagnosis. 

The day after, I went in to do autonomic function testing 

Small-fiber neuropathy can affect the small autonomic nerve fibers, which control things like blood pressure, heart rate, sweating, digestion, and bladder function. I never noticed any symptoms of autonomic dysfunction. Back in 2014 I had some autonomic function testing in Switzerland, and all they found was some mildly reduced sweating in my right foot. 

Of course, Prof. Walker's specialized clinic had all the fancy equipment, and I had my first tilt-table test, to measure if my heart rate and blood pressure can keep up with changes in position. I was strapped onto a stretcher and they patched electrodes and all sort of devices on me. Then I had to lie still for a while and they recorded my blood pressure, my heart rate, oxygen saturation, and other things. 

After about 15 minutes, the strecher started moving into an upright position, while my body functions were being monitored. Finally, after another 15 minutes, it slowly went back down to a horizontal position. Thankfully, they did not find any abnormalities in my heart rate and blood pressure.🙏🏻 

I know that people with autonomic dysfunction often feel terribly ill for days after a tilt table test, but given that my autonomic system seemed to be ok, I didn't really notice any side effects. 

Then they measured my sweat response in a QSART sweat test

Once again I was treated with electro shocks....🙈

I remember that they would induce electric stimuli (as they called it - I call it electro shocks😂) to my arms and legs while I had my hands and feet on some surface that would measure my sweat response. But also in this test, they could not find any abnomalities, which may also be due to the fact that I was already on treatment. 

I remember they tested a few more things, which I can't remember exactly, because it's been a while ago now, and I don't think I ever asked for the medical notes of the autonomic testing. However, if you want to know more about autonomic function testing, this youtube video by a neurology professor at the Mayo clinic gives a nice overview on what to expect. 

After all the testing was done we discussed treatment...

I told Prof. Walker, that I was currently on 80mg prednisone per day, and she looked at me with a slightly concerned face.🙈 She wanted to drop the dose down to 40mg per day immediately, but then I got worried that symptoms would come back... so we bargained a little and agreed on 50mg/day.

The plan was to complete a total of one month on 50mg/day (including the 2 weeks I had already been on 80mg/day) and then to drop by 10mg every week. If symptoms came back when I dropped the dose I could go back up for a little while. However, she said, if I can't drop down to zero within reasonable time she recommends switching to intravenous immunoglobulins (IVIG) for a while once I'm back in Switzerland. 

And now this post has already gotten very long, so I'll leave it at this with a few nice impressions of my otherwise great time in Boston. 

And on this note, I wish you all a good rest of the weekend. As always, thanks for your interest in my journey.💕

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This is me sailing in Boston harbor with a great native Boston friend. I blanked out my face, just because I have no idea where these photos end up, once you add them to a public blog....

I loved the foliage during fall in New England. These photos are from New Hampshire. 

A beatiful photo, my husband took during one of our lovely trips through Maine in summer. 

This is Jamaica Pond close to where I used to live. I loved walking or running there (when I didn't have neuropathy obviously). 

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Skin biopsy and autonomic testing

Skin biopsy and autonomic function testing 

Hi everyone, good to see you back here! 

Today I'm writing about the skin biopsy and the autonomic function testing, which I had done back in 2014 to test for small-fiber neuropathy.

I can assure you that this post will be pretty unspectacular and less painful to read compared to the story about the gruesome headache from the spinal tap last time.😅

So in March 2014, after I'd recovered from my brain implosion, the results from the examination of my spinal tap came back normal/negative. So Dr. Soland suggested that we do a skin punch biopsy of my lower leg to examine the density of small nerve fibers in my skin. 

Dr. Soland promised me that this examination would be the last one before we do a treatment trial with prednisone, which I had pushed for over the past 2 months. 

What is a skin punch biopsy?

To do a skin punch biopsy, they punch a little hole in your lower leg, about 10 cm above your ankle. Just like in the picutre below, which is a picture I found on the WWW, so its not my foot. The tissue they punch out is then prepared in the lab, where they count the number of small nerve fibers that innervate the skin. 

This sample is then compared to a standard sample of biopsies of healthy adults. 

If you have small-fiber neuropathy, the small nerve fibers, which innervate the skin, get damaged by something (in my case by an autoimmune reaction) and eventually die off. So if they find that the density of small nerve fibers is lower than in the average population, you likely have small-fiber neuropathy. 

A skin biopsy is not a major procedure. The problem is that only few clinics offer them because not many people require them and you need specific infrastructure in order to analyse the samples.  

My experience with the skin biopsy

So Dr. Soland referred me to Prof. Riser (not his real name), who is a neurologist and specialist for neuromuscular diseases at the major academic hospital in Bern (in Switzerland). 

So one day in mid-April 2014 I went to Bern, I had a chat to Prof. Riser about my symptoms and how they started. He agreed pretty much with everything Dr. Soland had said and done so far. He only added that we may want to also test for celiac disease, which can sometimes cause neuropathy. We later did this and again, results were normal/negative.

Then I had to lie on a bench on my side, so that he could get the biopsy from my leg. Already when he started, I could kind of tell that this isn't something he does very often. I'm not sure if they just don't have many people who need this exam, or if Prof. Riser usually has an assistant doing this, who deserted him on this day.😂 

Prof. Riser was a bit clumsy...but he managed...

The first thing Prof. Riser had to do was to inject some lidocaine (local anesthetic) into the spot where he wanted to take the biopsy. He had these little vials of liquid lidocain, which he had to transfer into a syringe to apply it.💉 

Somehow, he couldn't figure out how these vials open. So he fiddled around with one, and eventually the top popped open and half the lidocain sprayed in his face.....💦💦🙈🙈😂

Luckily it did not go in his eye and it did not seem to have done him any harm. After another try he managed to somehow open the second one properly and transferred the liquid into the syringe. 

A few minutes after applying the lidocaine, he punched a whole of about 3 mm diameter and 5mm depth out of my leg. Taking the punch biopsy did not hurt at all actually. 

The tissue he got out had to be transferred into a little tube filled with liquid for preservation. Somehow, this task seemed pretty difficult too and the tissue landed on the floor before it landed in the liquid....😂😩. 

I don't think this would have done the probe any harm. The tissue wasn't damaged or anything. It's just funny, because he really lived up to the clichee about professors. Academically very competent but kind of confused and not very practical. It's not a bad thing, I think he knew very well what he was doing, but he probably could have used some help there.😹 

I also had some autonomic function testing

Then we went on to do some additional autonomic function testing to test for small-fiber neuropathy. If you are interested in learning how small-fiber neuropathy is diagnosed, the neuropathy commons website is a good resource.

Why autonomic function testing? 

The small nerve-fibers in our bodies have several different tasks. For one, they innervate the skin where they control pain, heat regulation (by innvervating the small blood vessels), and they also control the sweat glands in the skin. Besides that, they also innervate many internal organs, where they control autonomic (unvoluntary) functions of the body, such as the heart rate, bladder control, or blood pressure. 

In this figure that I found in a scientific publication, you can see what the large and small nerve fibers in our bodies do. In case of small-fiber neuropathy the sensory and autonomic fibers may be affected. 

• Nature Clinical Practice Endocrinology & Metabolism 2006. 2(5):269-81

So some people with small fiber neuropathy also suffer from tachykardia (rapid heart beat), digestive problems, bladder problems, or severely low blood pressure.

I never felt like I had any of those issues. In my case, I was just affected by pain and red swelling in my hands and feet. 

Which autonomic functions did I get tested for?

He first tested the response of my heart to stress🫀🫀🫀. He measured my heart rate after lying there for a few minutes. After this he made me hyperventilate for about half a minute or so and then measured my heart rate again. Thankfully, he could not find anything wrong with my heart🫀💕. 

Then he tested the response of my sweat glands to stress. I can't recall all the details, but I remember he put some electrodes on my upper body and some sort of pads to measure sweat response on my hands and feet. And once again, I got some electro shocks through my body. 

Apparently when sweat glands get stressed out, for instance by electro shocks, they react by sweating. Makes sense right? ☺️And because small nerve fibers regulate sweat glands, the sweat response to electric stimuli can be reduced if you have small-fiber neuropathy. 

I remember that again we had some technical complications, because somehow Professor Riser's computer died in the middle of the exam and we had to start all over.😩😩😩😩 Again, he was kind of put out of concept by the non-cooperative computer and fiddled around with many cables and adaptors and went to get support somewhere. Eventually they managed to get it up and running again, but I ended up being there for quite a while.....

All the equipment they had there kind of looked outdated. Probably shows, that skin biopsies and other small-fiber neuropathy tests were not the financial focus of the hospital, but at least they offered them. Either way, i think the Prof knew what he was doing, so I will not complain about that. 

I did have abnormalities of my sweat gland reaction

Once the computer was up and running again, Prof. Riser showed me on his screen that overall my sweat response was within normal range. However, you could clearly see, that it was much less on my right foot when compared to my left foot. He repeated the test, and the results were exactly the same. Interestingly, my right foot was the one, that was a lot sorer than my left foot.🦶🏻 

After that we were done and he informed me that we will have to wait several weeks for the results of the skin biopsy. But he agreed that it seemed likely that I had small-fiber neuropathy. However, he also didn't know where it came from and he agreed that an autoimmune reason is possible. 

And then I finally got the prescription for some treatment to try!

He agreed to the suggestion of doing a treatment trial with prendisone and prescribed 50mg prednisone once daily.💊💊💊💊💊 He said to take it for 2 weeks and then to evaluate with Dr. Soland to see what it is doing. 

I will write about my prednisone treatment in a later post, but I can tell you that much......it worked💕💥 But the time of treatment was definitely an experience in itself.... 

I hope you all stay well!  

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Worst headache after spinal tap

Worst headache ever after my spinal tap 

Hi everyone, 

I hope you are all enjoying the weekend! 

I have news. I received my first shot of the COVID-19 vaccine yesterday!💥💥

In my last post, I told you that I will probably get my vaccine next week. For once things happened a lot faster than I expected. My past experience of dealing with my neuropathy has taught me that I need to be patient, or at least try to be patient, because usually everything moves sooo sloooow. 

The vaccine was pretty much done 5 minutes after I got there. They made me wait for 15 minutes afterwards just to check for any major allergic reactions, and then I was ready to leave. It's kind of strange because such a big thing feels so unspectacular when you actually do it. Just like getting the flu shot at the hospital I work at every year. 🎆

I got the Pfizer/Biontech mRNA vaccine. So far I feel fine - in terms of vaccine side effects at least..... My arm started hurting a bit last night about 2 hours after the jab. This morning I woke up with a slight headache, but nothing major. 

After all, feeling these reactions means that the vaccine is doing its job, which is good to know for sure! I've heard from other people, that the symptoms are a lot stronger after the second jab, which I will get in 3 weeks....so we will see.  

The vaccine will delay my new treatment though

I'm happy I got the vaccine, which I really didn't expect I could. On the downside though, this will postpone my infusions by another 7 weeks😖😖 

Here we are again....most things take a lot of patience. I totally understand that I have to wait for the vaccine to work, but when you are in constant discomfort and having trouble walking, 7 weeks are sooooo looooooonggggg.....

However, I have accepted it now and will do my best to distract myself. Maybe we will move our home office into the mountains somewhere again for another week or so....

But back to the neuro talk and to my spinal tap in 2014

I left off saying that Dr. Soland signed me my up for a spinal tap in his office to do some further testing for my neurological symptoms in 2014. 

Why a spinal tap?

The main thing he wanted to test for i was whether or not I had either of the autoimmune inflammatory neuropathies called Guillain Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). GBS and CIDP are autoimmune neuropathies, which lead to paralysis of the limbs. In GBS, it may even lead to paralysis of the muscles required for breathing. CIDP is basically the chronic form of GBS. 

Both diseases mainly affect the large nerve fibers. We had already ruled out that my large nerve fibers were damaged with the electroneurography (ENG). However, in rare cases, people with CIDP or GBS have a special subtype, which only involves the sensory nerves. 

If you have CIDP or GBS you can usually find a specific protein in the cerebrospinal fluid, and this is what he wanted to test for. Since we were doing this anyway, Dr. Soland also wanted to check for neurological Lyme disease and multiple sclerosis (MS) again. 

Neurological Lyme disease is a late complication of a tick bite, which can cause a huge range of weird and debilitating neurological symptoms. Basically, it's a diagnosis that is always brought up whenever someone presents with weird neurological symptoms and doctors have no explanation for them. Given that I did not even have antibodies against Lyme bacteria (i.e. I had apparently never been in contract with them), it was pretty unlikely they would find anything...but better to double check right?

I read a bit about it, and if you do have neurological Lyme disease, they can actually see these bacteria, which look like little worms, swimming around in your cerebrospinal fluid, which I think is quite freaky. They look something like this. 

I am not going to talk about this more, because obviously I don't have it. But if you are interested, here is a youtube video of the singer Avril Lavigne talking about her battle with neurological Lyme disease. 

The spinal tap itself was not pleasant but also not terrible.....

So I went into Dr. Soland's practice one morning in late March 2014 to get my spinal tap done. From what he'd told me before I expected this to be smooth and to be out and about in a blink. 

Dr. Soland did tell me before the procedure, that it can sometimes lead to a headache. He also said that young women with normal body weight are at the greatest risk of developing a headache after a spinal tap. But I thought that a little headache was no biggy and surely I could put up with this no problem, as I do whenever I have a cold or so. 

I had to sit on a bench facing the wall and Dr. Soland aimed a needle to go between my vertebrae into my spine. The mere thought of this is extreme creepy, so i tried to think of something else, as I did not see it anyway and it was not meant to be painful. 

One of his practice assistants was also in the room to hand him the supplies. At one point I heard him saying to her 'I can't get in, I think I'm on the bone.....'.🤮🤮🤮  I have to say, he should have kept this thought to himself or at least say it so that I can't hear it. 

I am not the best at dealing with wounds and blood, especially when they are on myself. So when I heard this, I noticed how I started to feel dizzy and my ears started ringing. 

My first thought was, that if I pass out now, while he had this needle stuck in my spine, this will rip quite a whole into my spine..... This thought made me even more sick, so I told them that I wasn't feeling well and I thought I had to lie down. 

At this point, the atmosphere in the room started to get a bit hectic and they moved me over to the side to lie down, all while this needle was half-way stuck in my spine.... After a while they had me sit up again, so that the liquid could come out. Somehow, I managed not to pass out and they managed to get the liquid out and the whole thing was done. 

But after the spinal tap was done it got bad.....

Steve came to pick me up at the practice and we ordered a cab to drive us home. We took the elevator downstairs and stood on the street waiting for the cab to arrive. As we were standing there, I could feel that my head felt kind of strange. A weird dizzy vertigo feeling with slight nausea. 

I had to sit down on the side of the street, and thankfully the cab arrived just in this second. As we were sitting in the cab I could feel that I was really not feeling well. I felt really dizzy and sick. 

On a side note, it was the biggest coincidence, that we actually had the same cab driver who drove us home after our wedding party three and a half years earlier. What are the odds right.....?? I still can't believe he actually remembered us.... but he did, and started chatting away how nice it was to see us again and how we were doing.....and I felt like death but did not have the nerve to explain what was going on....💀

Dr. Soland did tell me that if I did get a headache, it was best to lie down. So I rushed through the door of our apartment and headed straight to bed to lay down. As soon as I lay down, my head felt a bit better, so I just stayed in bed to rest. 

I would not call it a 'headache', more like a brain implosion...

At some point I had to go to the bathroom. So I got up and made it about half way to the bathroom when my vision went black and I kind of saw stars shimmering. My head felt like it imploded - a type of pain I had not felt before. I really don't think the term 'headache' is an accurate medical description of what I had. It was more like a head implosion - as if a vacuum was trying to suck your brain out from behind or so. 

I automatically bent down to lower my head which made it a bit better. So I walked / crawled to the bathroom bent over to keep my head down and sat on the toilet with my head between my knees. 

I could not get back into bet fast enough. After I had made it back to bed, I felt really sick and in so much pain..... I tried not to drink too much, so I would not have to get up too often. The next two and a half days I basically spend in bed in terrible pain that stretched from my head all the way down my spine. I was unable to get up at all, so I literally had to eat in bed while lying down only to crawl to the bathroom when absolutely needed. 

Steve made me food that I could eat in bed while lying down....I am glad we do not have any videos of this week..... 

Dr. Soland had told me not to take pain medication like ibuprofen, because they could increase the risk of bleeding. However, at some point the headache got so bad, and paracetamol did absolutely nothing. I called a colleague of mine, who is also a pharmacist, and asked her to go to a pharmacy to buy me some prescription codeine pills to help get the pain down somehow. 

Thankfully, she got them quite quickly and brought them over. I took some and they did seem to help a bit. At least they put me to sleep, which is all you want in that moment anyway. 

I was actually meant to fly to Stockholm with my friend V (the one who is talented at radiology😀). We had planned to visit our Scandinavian friends, we met while travelling. I was really looking forward to a weekend away with the girls, so I was determined to get better and make this flight. I think the flight was on Saturday and the spinal tap was on the Wednesday before. 

By Friday it was pretty obvious that there was no way I could go, but somehow I did not accept this and still hoped I would make a miraculous quick recovery over night. So in the morning I got up, determined to have a shower and go to the train station...... well, I did not even make it to the bathroom and had to surrender and go back to bed.... I was sooo frustrated about that....

Thankfully, at some point it got better.....

After a few days, it started to get a little bit better and I could at least make little trips to the bathroom and back. But I still could not be upright for more than a few minutes. Basically, I lived in bed for the whole week lying flat. Every time I got up I could feel this weird suction feeling, which pulled on my brain down my spine. I think I literally did not have a shower for about a week and my bed was full of stains from eating in bed....just overall a great experience.💜 

Eventually, I thankfully started to feel better, and about 8 days later I managed to get up and the headache was gone. This first shower felt soooooo gooood!

But I can tell you, this was definitely one of the worst weeks of my life for sure. And the craziest thing was - I did not see this coming at all! I probably should have researched this before and be a bit prepared but I was just (naively?) optimistic....

So apparently, what I had is called a post dural puncture headache, and is quite common. What happens is that spinal fluid leaks out into the surrounding tissue at the spot where the needle went in. This then causes the pressure in your spine to drop, which causes the headache....nice thought I know.🤮 

In the worst cases, they need to close these leaks with a blood batch, but thankfully mine eventually resolved on its own. When I called Dr. Soland after a few days telling him that I could still not get up and needed a sick leave, he did sound a bit concerned and I was worried I might need such a procedure - which temporarily put me into deeper crisis....but thankfully then it started to get better..... 

What did my clever friends say about this....?

My friend V💜, who is an anestesiologist, later told me, that in anesthesiology they intentionally use much thinner needles to do spinal taps on young people, because these headaches are so terrible and really frequent. But annoyingly nobody has told this to the neurologists yet😡 If I ever need a spinal tap again, I will have one of her colleagues do it for sure - although I really really hope I never need one again....🤞

I can assure you, that this was definitely the worst test of all the ones I had done. And I just realised I did report it in quite some detail... The next ones will be a lot more harmless to report😜

And once again, all results came back normal....

On the bright side, once again all the tests came back normal/negative so i did not have GBS or CIDP and Lyme disease and MS were definitely ruled out. Although, whether or not this is a positive aspect can be debated, because having symptoms without an explanation is about equally frustrating as being diagnosed with something. 

But I have a definite bright note😁 I did get the money for my flight back from my travel insurance. I figured I might as well spend it to treat myself after this Odyssee. So I bought myself some really nice earrings, which I am still wearing a lot today.😃😃 Retail therapy just always works for me.....(I know also not the best habit....)

And with this great cheerful story, I will let you all go into to the weekend and hope you enjoy your day off. I just realized that this post turned in to a reaally long one - so for the ones who read until the end - thank you for the effort and I promise the next one will be more manageable😃

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All tests came back normal

Hi everyone! 

Good to see you back! 

First of all, thanks for putting up with my amateur website management💙  

As some of you have already told, for some reason the update emails stopped working and you didn't get a notification on Monday.... 

BUT you did get random emails notifying you of old posts.....sorry about that. It wasn't click bait, it was just me being lost 😅 I still haven't figured out what the problem was but I did change the email provider and cancelled the old one....So fingers crossed it will work now🤞. 

So if you received an email by 'follow.it' asking to confirm your subscription - that's me. You can go ahead and confirm 😁 

Steve and I are also still working on the display of the blog on mobile phones, as it looked a bit wonky.....we realized the way to silicon valley may be a tiny bit longer than we originally anticipated - but we'll get there 🧠 

At least we got the comments working on mobile again yesterday - yei! 

I'll probably get my COVID vaccine next week...

First of all, I have an update. I will likely get my first shot of the COVID vaccine some time next week💉💉!

I talked to my neuro Prof today to discuss the whole logistics of my infusions. 'Neuro Prof' sounds so clumsy - let's call him Prof. Wexler (not his real name) from now on...I probably shouldn't write his real name all over the WWW, although I do not intend to write any bad things about him..... 

So the hospital has now ordered the daratumumab vials from Janssen and should receive them sometime soon. We discussed whether or not I should get the COVID vaccine beforehand. Prof Wexler thought it would be good if I could do it before, although I am not a very high risk patient, because the vaccine is not going to work well for several months after. Basically, daratumumab will kill the cells that are responsible for antibody production, which are needed to create the vaccine response. 

So I had to call the vaccine hotline of the hospital, and it turned out that they have some shots reserved for patients where your treating physician thinks the vaccine is required and writes you a referral. So we did that and it seems to go through....one step further💪💪 but let's see. 

I dont know which vaccine I will get, but I assume it will be either the Moderna or the Pfizer one, because they are still the only two that are currently licensed in Switzerland. 

I was a bit worried in the beginning, because I wasn't sure if messing around with my immune system was the best idea when it is already kind of in over-drive. But after all I think it is the only reasonable thing to do because I don't also want to be immunocompromised and not vaccinated. Plus, from what I heard, these vaccines are tolerated pretty well. 

I will keep you posted on all that.....

But back to the purpose of this blog....neurotalk.... 

I will write a bit more about all the various tests I did back in 2014 when my symptoms first started. So my new nice and excellent neurologist (let's call him Dr. Soland (again not his real name)) had already done an electroneurography (ENG) during my first visit, and noted that the large nerve fibers were ok. He also agreed that my symptoms were highly suspicious of small-fiber neuropathy, but he had no clue where they came from all out of the blue. 

So the big neuropathy workup started...

To understand where my symptoms come from, and to rule out some possible causes, I had to go through a vast range of tests. First, they took some blood and sent it in for further testing. I just checked my print out from the lab back then and the things they tested for were: antibodies against Lyme disease, syphilis, campylobacter jejuni (which is a stomach bug that apparently is a common trigger of acute systemic neuropathies called Guillain Barre syndrome). 

Lots of blood tests...

They also checked some antibodies, which are commonly found in rheumatic diseases (called ANA and ANCA), as well as my overall levels of the different antibodies (G, M, A) as well as some immunological details about them.... 

A few days later, all those tests came back normal/negative..... Well actually my IgM levels did come back slightly too high, but nothing out of the ordinary and Dr. Soland was not alarmed. Based on some recent research publications I now think this may be (very uncertain) a clue actually, but I will write about this some time later.....

Then an MRI...

So as a next step, I was sent for an MRI of my brain and spinal cord to check for multiple sclerosis (MS) again. I wrote in one of my last posts, that the first weird neurologist I went to had already done some tests, which made it pretty unlikely that I had MS. Dr. Soland, however, explained that we should be sure to rule it out properly, and an MRI is the standard test for it. 

He explained, that MS is comparatively a lot more frequent in women my age (than other weird neuropathies) and can manifest in so many different ways, so that you need to look at it properly. An MRI could detect whether I had lesions of inflammation in my brain or spinal cord, which are usually the cause of MS symptoms.

How did the MRI go?

So I went into a separate imaging clinic for this MRI some time in March 2014. The procedure overall is a bit of a special experience, but not too bad at all unless you have claustrophobia, in which case I think you might need a tranquilizer before💊. 

I had to lie on a bench, which rolled me into one of these machines for about half an hour. It feels kind of claustrophobic in there as you lie in a narrow tube with thick walls around you and all you hear is really loud hammering noises and the music they play on your headphones. You also get an emergency button, which you can press in case you freak out, and you can always talk to your nurse via the built in microphone. 

I was pretty nervous when I got there, but not really because I was worried about the procedure, but more about the fact that I might find out I had MS or something else wrong with my brain on that day. The nurse who looked after me was very nice, and she realized that I was quite nervous about what they might see. 

Did they find anything in the MRI?

The weird thing with these clinics is that you don't actually get to see a doctor. There is a radiologist there, who looks at the scans as they are taken, but he/she is sitting in a dark room in the back and will transmit whatever result to your treating physician for further discussion. 

When I asked the nurse if she could tell me anything, she said that she is not officially allowed to tell me any diagnoses, and that my neurologist would get the results and talk to me. 

But I think she felt sorry for me and after a moment she looked at me and said that she could tell me that much: the radiologist in the back looked quite relaxed, and if he had seen anything wrong they would always ask for a second exam where they would apply contrast agent before the scan as well. They did not ask for this, so I could be pretty sure I did not have anything structurally wrong in my central nervous system (CNS). 

I was really happy about this news, and about the fact that I had a kind nurse who was willing to bend the rules a little bit. That made a huge difference, because otherwise I would have constantly thought about what may be for the next days.....

So about a week later I went back to see Dr. Soland and he told me what the nurse had already told me. They had found nothing wrong with my CNS and I, most certainly, did not have MS and also no brain tumor. 

BUT they did find a little lump in my thyroid

Dr. Soland told me that this is something they find often, and many of these nodules are not bad, but I should go and get it checked out at some point.....In the picture below you can see my spine (side view) in the MRI, as well as this stupid nodule in my thyroid, which is highlighted in yellow😡😡😡 

BTW: I was later told, that the thing I highlighted is not my nodule but something in my brain stem (thanks my very clever Doc friend V😘).😂😂 😂

I did not manage to find the thyroid nodule on the scans, but I can assure you it was there somewhere.....Somehow there are a lot of things that look like nodules to me on these scans so I'd better stop searching 🙈 Thankfully nobody tried to remove parts of my brain stem - haha. Lucky I don't work as a radiologist....

This random stupid nodule😡😡 (you can tell we never became friends....) turned into a year-long needless medical complication, and I had much rather never known about it....but that is a whole other story I might write about later.... 

I can definitely say today, I would never sign up for any scans, which I do not need 100%...

I still can't believe that there are actually clinics that offer whole body scans as routine check-ups, and make it sound like this is good prevention. In my opinion that is a massive fraud. You can find so many things in any scan, which the docs cannot ignore but also don't know what to do with.....and before you know it you may be missing a few organs......

So in case you are a doc and you see anything on this scan - don't tell me - it's old anyway!

But back to the neuropathy workup...

So me and Dr. Soland had already done quite a few tests and still hadn't found any clues about my weird neuropathy symptoms.... And because Dr. Soland is a thorough doc, he was not willing to give in and try treatment without testing for everything on his schedule. I started to get a bit frustrated about this because it seemed to be never ending, and I was in constant discomfort, but I'm sure he was right..... 

Next step was a spinal tap...

So he said the next step will be to do a spinal tap, which is a procedure where they stick a needle into your spine, a bit above your butt and they get a tube of liquid from within your spine to examine. From what he explained, it didn't sound too scary, and he said it was a routine test he could do himself in his practice. So I was not too worried about it....but boy, did that turn into a nightmare.....much worse than an MRI in my case....😖

I will get back to you writing about this spinal tap in my next post, because there are definitely quite a few things I can tell you about that procedure and especially about the week after......

Until then....thank you all so much for reading my posts and for hanging in there with my spam emails and everything 🤗🤗🤗🤗🤗🤗 

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Found a great neurologist

Hi everyone, 

Thanks for checking in! 

Today's post will be a bit shorter, because I am busy trying to optimize my blog. 

I spent most of the day yesterday trying to figure out how to redesign my blog to make it more reader friendly and nicer to look at. And given that I am a total newbie to homepage design it takes me veeery long.....

I must say though, I am learning a lot doing this, and I hope that I will be ready to take on silicon valley soon💪 I was so proud of myself yesterday, after I edited something in the html code of my design template and it actually did what I wanted it to do🤓 (of course after several fails). I also inserted a like button on my page, which I think is really cool (🤓🤓🤓), so please go ahead and like (or dislike) my site - only if you do of course (on mobile devices it shows up on the bottom - still trying to fix this...). 

I think it looks a lot better now, but please leave a comment if you encounter any problems or if you have any suggestions/complaints. Chances are I won't know how to fix it anyway, but I promise I will try😂. I am also still working on it, so if things shift around a bit, that's just me working. 

I also noticed that my blog cannot be found in Google yet, although it does seem to be indexed, so I'm trying to figure out if this is just a matter of time or if I am doing anything wrong. Most likely the latter is the case.... Like with everything, I had to realize it is a lot more complicated than I initially thought🙈 and that I had absolutely no clue about how Google works. So if any of you have any tips on how to optimize my Google search, feel free to bring them on. 

But enough of the house keeping. 

I will write a bit about my rare disease journey now. 

I left my last post saying that I was scheduled to see a different neurologist because the first one really did not live up to his job description. 

So I went to see the new neurologist one early morning the next week. This was in February 2014. He had come in early just to see me because he had such a long waiting list for new patients, and I am still thankful for that. 

This practice was like day and night compared to the last one. It looked modern, clean, and well organised, just how you want a medical facility to be. The neurologist called me in and asked me about my symptoms. I explained everything and also brought him the article I found, and mentioned that I had self-diagnosed myself with small-fiber neuropathy after my extensive literature search. He was very nice and seemed to understand how much discomfort I was in. He agreed with me that my symptoms were highly suspect of small-fibre neuropathy.

I instantly felt understood and knew that I was in good hands now. So apparently this neurologist could associate my symptoms to a diagnosis after just a few minutes, which really made me question the last neurologist even more. 

He explained that many of his patients had small-fiber neuropathy, but all of them were older and had very slowly developed symptoms, which slowly progress from the toes upwards over years. Usually this is the consequence of some other underlying disease, most frequently diabetes. None of them were as young as me (I was 30 years old then) and none of them had developed symptoms in both hands and feet over such a short period of time without an apparent cause. 

He was very interested in the publication I brought him, in which they reported about patients with symptoms like mine, which they successfully treated with prednisone.

He then did some nerve conduction tests (electroneurography) to test if the large nerve fibers, which control the body's motor function, were also affected. None of those tests showed anything wrong, so at least we knew that I did not have large-fiber peripheral neuropathy. 

This is just a quick explanation so you know what I am talking about (got this classification on the WWW from an anestesiology website - hence the anesthesia comments, which you can just ignore). We have different types of nerve fibers in our body, some of them, the thicker ones, control movement and the thinner ones control sensation, and other body functions. Depending on which kind of nerve fiber is affected you can have motor-neuropathy (large-fiber neuropathy) or sensory-neuropathy (small-fiber neuropathy). With the electroneurography he tested the conduction of the large nerved fibers. Unfortunately, there is no such test to run on the small nerve fibers, so you cannot detect small-fiber neuropathy using nerve conduction tests.  

https://www.openanesthesia.org/peripheral_nerves_sensory_vs_motor/

In the case of small-fiber neuropathy the C-fibers as well as the A-delta-fibers are affected, which control pain sensation and temperature regulation. They also control the sweat glands and the small blood vessels in the skin. 

He agreed with me that it seems like I might have autoimmune small fiber neuropathy, like the people in the article that I had found. 

But he also said that this is so rare, and he had never seen it in his entire career (he was around 55 back then I would guess). So before we try to treat this, we needed to first rule out all the more frequent potential causes of similar symptoms. 

And this was the start of a 2 month-long extensive diagnostic work up to screen for causes of my weird neurological symptoms during which I learned how much patience you need to have as a patient with a rare disease. 

I will write about all those tests and how they went in my next blog post and will get back to trying to figure out my website issued now. 

I hope you all have a great Sunday!

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First (not so great) neurologist

The first neurologist I saw did not really care... 

Hi everyone, thanks for checking in!  

In one of my last posts, I wrote about my first GP visit for my weird neurological symptoms, which included tingling, pain, and redness in my hands and feet, which started all of a sudden back in 2014. Today, I will talk about the first appointment with a neurologist which was a very strange experience. 

Lesson learned: you are responsible for choosing the right doctor

So a few days after I had talked to the GP, I went to see this neurologist. It was the only neurologist in the city who did not have a waiting list of several months. I now know that not having a waiting list is probably not the criterium you should go by when looking for a doctor.....but at this point I was just desperate to get some answers.

It felt strange from the moment I walked in...

So I walked into this practice, and the first thing I noticed was that the walls of the entry area were kind of yellow and everything looked as if it hadn't been maintained since the 70s. The neurologist eventually called me in, and he looked equally as antiquated as his practice. The first thing I thought was: why has this guy not retired yet.......??? 

Don't get me wrong, I don't think that older age makes you a worse doctor. To the contrary, I'm sure experience is one of the most important aspects in medical practice. But this guy just looked older than other doctors I had seen before. Maybe it was also his outdated office and odd behaviour that made his impression extra weird.  

He asked me about my symptoms, so I told him that my feet and hands had become very painful and tingly a few weeks ago, and that I had trouble walking and wearing shoes and socks. I even told him that my bedsheets hurt my feet at night. 

He did an evoked potentials test

He then ran some unpleasant tests on me to evaluate a potential MS diagnosis. It was a while ago now, but I remember that he placed a device on my head that sent electric shocks through my body, while he measured the transmission of electricity through my body (google told me this is called an 'evoked potentials test'). 

From my work as a clinical pharmacist, I had learned that you diagnose MS via an MRI, which checks for inflammation in the brain or bone marrow. But apparently this test (although slightly antiquated?) can be used as well to check for damaged nerve pathways. 

What does this test do?

I found this picture on Google to give you an impression of what it was (this is not me in the picture). But in my case he actually held some device in his hand that fired electricity into my head and his computer was definitely not that modern - i remember that it actually printed meters of papers with showing lines of electricity transmission....

He told me I didn't have MS

His conclusion was that he was pretty sure I did not have MS, which turned out he was right about. He then also told me that generally he could smell it, if MS was in the air anyway👃. I am not sure if I was meant to be impressed by the super powers he had besides being a pretty antiquated neurologist. 

But he also didn't really care where my symptoms came from

He then had no intention to do any further tests or anything. He just told me that I had a nice name and treated me a bit like a child. When I asked him what to do about my limiting symptoms he prescribed me some vitamin B tablets and told me to come back in 6 months (half a year!!!) if symptoms had not improved by then. 

I was kind of relieved that he said I did not have MS, so I walked out of his practice without arguing much. Maybe I also just hoped that the vitamin B tablets would fix my symptoms, although that was kind of hard to believe. As soon as I left the practice and walked back home, I could feel my feet hurting after just a few minutes, which was a definite reminder that something was wrong, and I felt like this doc did not take me seriously. 

So I had to do my own research again

Being a bit of a compulsive researcher who was freaking out, I went home and continued my frantic Google search. I started to also search Pubmed (the medical literature library) as well as UpToDate (the tool doctors use to get expert opinions on drug treatments and diagnoses). I was and still am working as a pharmacist and researcher at an academic hospital, so I had access to all the good medical literature and knew how to look for stuff, which was an enormous plus! 

And I did come across something interesting

At some point during the following week, I stumbled across an article on Pubmed, which reported about 4 patients somewhere in the US, who had neuropathy symptoms exactly like mine. The authors wrote that the condition these people had was called acute-onset 'small-fiber neuropathy'. I was instantly convinced that this is exactly what I had. 

They wrote that all 4 patients had some sort of mild infection shortly before their rapid symptom onset. This led them to think that their neuropathy could be due to an autoimmune reaction triggered by this infection. They treated them with high-dose prednisone, which is a strong version of cortisone and reduces inflammation and suppresses the immune system. After a few weeks to months, all of them improved and were able to slowly decrease prednisone again. Here is a link to the publication if anyone is interested.

I remembered that I'd also had a slight cold over New Years, 2 weeks before my symptoms started. It was really nothing major, so I didn't think about it or put it in the context of my new weird symptoms. I just had a headache, lack of appetite, and tiredness for a few days. So now I was even more convinced that this is what I had.  

So I told my GP about what I found

The next day I called my GP and told her that I was not happy with the neurologist at all. I told her that he did not examine me properly and basically just sent me home without an explanation or even without showing any interest in what I had. 

I told her that I just wanted to inform her, that I was going to take some prednisone now because I had found this publication, of which she had obviously never heard of (can't blame her for that😆). As a pharmacist, at least you have the privilege that you can just buy prescription drugs. 

Obviously, I couldn't really know that this is what I really had, but I was frustrated that nobody tried to do anything about my symptoms, while I was struggling from one day to the next and freaking out. I also talked to some of my friends, who are (excellent) physicians, and they all agreed that a short course of prednisone would probably not put me in any danger. 

The GP called the neurologist...

The GP got a bit nervous when I announced that I was going to take these drugs, and she told me that she was going to call this neurologist herself to hear his medical advice. She probably thought he was going to confirm that he thinks my symptoms were stress related...... 

...and was shocked herself

An hour later she called me back and was kind of shocked herself. She told me that she asked the neuro on the phone what he thought was wrong with me, and he told her that I probably had carpal tunnel syndrome (CTS). CTS is very common and presents with nerve pain in the hand and wrist, which develops when a nerve in your wrist is squeezed by the carpal tunnel (a bone structure in the wrist). Problem was.....the most severe pain was in my feet, and there is no carpal tunnel anywhere near your feet.....

Obviously he just made this diagnosis up on the spot because he had nothing to say. He never mentioned to me that he thought I had carpal tunnel syndrome, although this would have to be treated as well. So the GP agreed that this doc either had no clue or really did not care. 

Still when thinking about it today, I think I should have notified the medical association about this neurologist, because someone like this is a danger to his patients. But at this time I was too caught up with my own problems. I truly hope this guy is fiiiinally retired by now - although I might check on that....

Thankfully the GP took things in her hands again

At that point, the GP realized that something was wrong and that I was not just causing a fuss about nothing. So she was quite nice and said she would call up the 'good neurologist' (the one with the looooong waiting list), to see if he could squeeze me in. She also told me that she didn't think I should just take prednisone before I had been examined professionally by a neurologist, which was probably also a reasonable input, which I did not like to hear though. 

The next day she rang me again and told me that the 'good neurologist' had agreed to come in early one day in the same week to examine me. I was very thankful for that and went to see this new doc.

I will write about seeing the new neuro in my next post. I can say that much; it was like day and night compared to the other neurologist - hence the waitlist☝.  

Lesson learned: do not blindly trust doctors....like in every profession there are great ones and reeeeaaaalllly bad ones too. 

Now this post has already become longer than I intended again so I will leave you all with this. Sorry for crapping on so long....👋👋 

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