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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Belimumab 1-month update

I started Benlysta /belimumab a month ago 

Hi everyone, good to see you back here! 🌺 

I figured it's time for an update, although there's actually not much to report. I guess that's a good thing. The first month with Benlysta (which is the brand name, and belimumab is the active drug compound) has been event-free...

I had my first injection in early October...

I use the subcutaneous Benlysta autoinjectors, which I inject myself with at home once a week. It's suggested that you do the first injection under medical supervision, in case you have an allergic reaction. 

So, for the first injection, I had a nurse, who works for my pharmacy, come to my place to show me how the injections are done and to stay with me for an hour after just in case anything happened. 

It's not like you need much instruction to do these injections. They are super easy. You get these pre-filled pens, which you keep in the fridge. 

Half an hour before the injection you take them out of the fridge. And when you are ready to do the injection, you desinfect the skin and push the pen down at the injection site. Then you hold it down for a few seconds until you hear a clicking sound. 

I was a bit worried that the injections would hurt...

...because I read some online reviews, which said the injections were so painful, that they don't even manage to inject the entire liquid before they have to withdraw the pen. Some people even switched to intravenous infusions for this reason. 

Most people who made this complaint seemed to inject into the upper leg, so I decided to stay away from my legs and aimed for my side flank, where I never had problems doing the subcutaneous immunoglobulin infusions. Basically you can inject into any site of your body, where you have a bit of fat...so that you don't hit a muscle🙃

Thankfully it really didn't hurt much

I can feel a bit of a stingy/burning feeling during the few seconds I do the injection, but it's barely worth mentioning. So in case you ever need Benlysta, don't worry too much and just try it out.

But now to the more important questions:

Has it improved my neuropathy (yet)?

I wrote in my last post, that Benlysta is a slowly acting drug, and that the main purpose of starting it, was to stabilize my neuropathy symptoms at a mild level for now. Benlysta is licensed to treat patients with lupus (another autoimmune disease), and the general notion is that it takes on average 6-9 months until lupus patients see a notable improvement of their symptoms with Benlysta. 

I didn't expect to notice anything right away, but of course, once I start a new treatment, I'm focused on my symptoms to spot any changes, because after all you never know. 

So far, I can report that symptoms have been stable on a rather mild level. My hands are doing mostly fine and I can walk fine in padded shoes and can wear most clothes without discomfort. 

However, I still have trouble walking longer distances in non-padded shoes and my feet get warm and red/sore in very heated rooms or when I excert myself. Mind you, I'm far away from running marathons - so by exertion I mean 15 minutes on my home trainer on a casual setting..... 

Thats my feet after a walk the other day in my Ugg boots. They get a bit red and sore when they get warm, and I have these weird red spots. But after taking off my shoes they cool back down to normal and stop being painful.

About a week after starting Benlysta I started to be more itchy 

I noticed that my hands, feet, lower legs, and my arms would get pretty itchy once in a while, and espcecially after physical activity. This hasn't stopped yet. I still find myself scratching my skin more often than I used to. For me, itch has been a symptom whenever my neuropathy has been improving/healing in the past. I assume this must have something to do with nerve fibers gaining back function or regrowing. 

However, the problem with itchiness is that it can totally also be psychosomatic, so I really don't want to read anything into this. For me, I always get super itchy in my face exactly when I'm carrying a tray full of glasses or something and I know I can't scratch right now. Or I get itchy everytime someone tells me about being itchy....so yeah. 

And on top of that winter has just settled in, and rooms are being heated again, which always makes my skin a bit dry and itchy....So I'll wait and see...I'll keep tracking my symptoms and I won't draw any conclusions before a few months into treatment. 

The plan is to observe what happens for the next two months, and if I still have substantial symptoms in early January, I will get one or two additional shots of Daratumumab, while I maintain my Benlysta therapy. 

Do I have side effects from Benlysta? 

Thankfully, so far I haven't noticed any...🙏🏻

Starting a new drug therapy always comes with quite some anxiety for me. You never know what to expect. And being a pharmacist, of course I get informed before starting a drug. I must say, sometimes it would be easier not to know much about those drugs, but of course I can't help myself anyway...

I'm also quite traumatised from my IVIG infusions (intravenous immunoglobulins), which I had around 2 years ago, and which gave me meningitis (worst headache and nausea for days and weeks on end) after every single infusion. This was super debilitating, and I was not warned about this beforehand. But I will write about that in another post. 

The potential side effects that are reported for Benlysta/belimumab are: 

• a potentially increased risk for infections, as is the case for all immunosuppressants. However, studies have actually found that severe infections happen very rarely. So that's a trade off I'm happy to make if it helps my small-fiber neuropathy. 

• A potentially increased risk for cancer, which is also stated for every immunosuppressant, because the immune sytem helps to fight cancer. However, again studies have not found a relevant cancer risk for Benlysta so far. 

• Headache, nausea, or diarrhea. But these are literally listed for every single drug on the market, so that's not to worry about too much.

• Allergic reactions, which obviously can happen to every drug. But once, you managed the first few injections without a reaction your chances of having one are very slim. 

I was quite worried about allergic reactions, because I'm well aware that my therapy options are narrowing down. Any drug I don't tolerate is one less option to treat my neuropathy. 

So for the first two injections, I decided to take an antihistamine and another allergy drug (montelukast) an hour before the injection, just to be safe. I take these drugs before daratumumab injections, on the advice of my heamatologist, so I figured they can't hurt. But after I never had a reaction, I stopped taking them and it's been fine so far. 

• The one side effect I was/am worried about most is a reportedly increased risk of depression and suicidal ideation. 

The patient and doctor information presents a whole section stating that you need to inform your close ones so that they can look out for any changes in your mood or behaviours....which freaked me out quite a bit. Depression is exactly what you need while fighting a rare and under-studied chronic disease and chronic pain. 🤯  

Is this for real? Will I develop depression now on top of everything??

Being a bit of an OCD-researcher, of course I went and got the original studies where they evaluated Benlysta, to see where this warning came from. And what I found was actually quite reassuring, that my chances of developing depression due to this drug don't seem overwhelmingly high. 

What follows now is a bit scientific, so if you're not interested in this, you may as well stop here. But as an epidemiologist who reads these kind of studies for a job, I think it's really interesting....maybe I'm slightly biased.🙃

In one of the first randomized trials to evaluate belimumab in patients with lupus, they reported that 6-7% of patients in the belimumab group developed depression, compared to only 4% in the placebo group. And a later long-term follow-up study (table below) of these patients, showed, that most of those patients developed depression in the first 2 years after starting belimumab. 

Subsequent studies obviously looked very closely at the risk of depression in patients who are treated with belimumab, and most of them could not reproduce this finding. A study that was published in 2020 (in the best medical journal, table below), which evaluated belimumab to treat lupus patients with active nephritis (kidney inflammation) actually found more patients with depression in the placebo group than in the belimumab group. 

A summary analysis (meta-analysis) of all randomized trials evaluating belimumab did also not find an icreased risk for psychiatric adverse events in association with belimumab when compared to placebo. 

So obvioulsy, the book on whether or not belimumab increases the risk for depression and other psychiatric diseases is not closed yet, and most studies actually find no increased risk. But it remains to be clarified why this one study found an increased risk. It could just be a chance finding, or it could have something to do with the way they collected their data, or whatever..... There have also been case reports of people who credibly report developing depression with Benlysta.

However, the whole topic is complicated by the fact, that belimumab has only ever been studied in patients with lupus, and that lupus itself can cause depression and other psychiatric conditions. So treating lupus, may well have an impact on psychiatric symptoms....all pretty complicated. 🤯 

However, once a warning like this made it into the drug leaflet, it is very difficult to remove it from there. But as a patient, who only reads the warnings without the background info, this is scary. 

It took me a whole day of literature search, to be re-assured and confident enough to start belimumab. Nonetheless, during the first 2 weeks, I was obviously over-analysing my mood for any changes. Very relaxing I know.🙈 

But after a month of treatment, I can report that, I think, my mood is unchanged. KNOCK ON WOOD!🪵🤛🏻 

However, should you ever find that I've become more depressing and/or annoying than usual, then please let me know and we'll just blame it all on Benlysta/belimumab. 😂

And on this note, I wish you all a great week. I hope you were not too bored by this update, as stabilized conditions do not make for exciting stories, but I'll take it! I'll keep you posted on my progress and hope to finally also write down some other posts about other treatments I've had in the past. 

Thank you all for your interest in my journey and your support.💕

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