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). 

Categories: prednisone, symptoms, test, treatment