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Suzannah

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Hi all,

Well, as my title suggests, I'm headed back to the National Institutes of Health tomorrow in Washington, DC. As many of you know, I was originally diagnosed with the upper motor neuron disorder, hereditary spastic paraplegia, but a change in symptoms, no family history, and ambiguous genetic tests results have made it seem likely that HSP is not the correct diagnosis. However, no one can quite seen to give me an answer since I have an unusual combination of symptoms. Most of my symptoms are related to hypertonicity, but my hands are now becoming very weak and atrophied (not a general symptom of HSP) and no one can tell me why.

Since 2014, I have been to Austin, Houston, San Antonio, Seattle, Ann Arbor, and now for the second time, DC, in search of answers. When I was at the NIH the last time, it was for an HSP study; this time I will be meeting with the movement disorder department. I am very curious as to what they have to say.

Practically speaking, I'm not sure it matters ask that much what I have because none of it is likely fixable anyway. But I still want to know, so I can have at least some sense of what is coming.

Thanks for listening.
Suzannah
 

ShiftKicker

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Good luck. May you get some answers and information. Is this a several day and multiple tests event, or just consultation with the neuros who saw you before about the results they got the last time you were there?

I wish you safe travels and informative days ahead.

Fiona
 

Green Queen

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Suzannah not having an answer is the worst part. Being able to actually answer someone when they ask THAT question.
All the best with the visit. I hope some positive outcomes make the trip worthwhile.
 

Suzannah

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Thanks. I am not exactly sure what is going to happen. When I was there before, the HSP doc I was there to see called in the movement disorder people for an informal consult (they were coincidentally down the hall in a meeting). At the time, the HSP doc said I might be able to come back at another time and meet formally with the movement disorder team. I emailed them in Dec and we set up this meeting. I am supposed to meet with one doctor first, and then he is going to "present" (his words) me to the head of the department. I know that's doctor/researcher talk, but that makes me giggle a little bit for some reason.

Other than that, I have no idea what's going to happen. I'm staying in DC till Weds evening in case they want me to come back or do tests or whatever. I spoke with someone else who recently met with the same people, and she said it was much more involved than she expected. So, who knows.
 

affected

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What convoluted path, I'm so sorry.


As much as we don't want any of these diseases, there is no comfort in being some unique nothing classifiable either!

I hope you get your answers, we are behind you!
 

Suzannah

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Hi all,

A bit delayed, but I wanted to give you an update on my recent NIH weeks. The have been wildly stressful for a multitude of reasons, and things are finally calming down so that I'm better able to process.

My trip to DC and visit to NIH was extremely intense. I arrived on a Saturday for my Monday appt and stayed through Weds. I was able to do some sightseeing, which was nice but challenging. I'm still mobile, but my walking is really, really slow, and it takes a lot of energy. I did not take any of my night-time muscle relaxants while I was there so that my symptoms wouldn't be suppressed. So, I wasn't sleeping, and the high tone in my muscles was out of control. Oh, and also while I was there, I was frantically trying to finish my doctoral dissertation for graduate school that I had to defend 36 hours after I got back from my trip.

So that was the backdrop of my visit. On Monday morning, I took a couple trains to the NIH and first met with a doc who specializes in HSP (my original dx). He spent about an hour with me, and he said I absolutely DO NOT have HSP, and do not show signs of spasticity. This is consistent with what the two other HSP docs have told me.

He then went and spoke to the movement disorder team and then came back and got me. Luckily I had been warned by someone here about what was going to happen, because when I went into the room, there were 14 doctors sitting around the conference table! It was very intimidating. The head movement disorder doc asked me some of the same questions and did his own exam. It was a very odd feeling to be watched by so many doctors. Every time some body part of mine reacted strangely, everybody would lean forward and kind of gasp. It was bizarre.

But the good part of that, I guess, was that it made me so intensely anxious that ALL of my symptoms showed up in force. It turns out that un-medicated, un-botoxed (I didn't get my last round of injections for the same symptom clarity reason), highly anxious Suzannah is a mess. Goodness. Even I was surprised. I think that was the first time I'd really gotten a good sense of what my real, unmedicated symptoms are.

The head doc seemed pretty certain that my symptoms were related to some type of dystonia, which is a movement disorder. However, he was visibly taken aback when he saw the atrophy in my hands. Apparently, he had never seen atrophy like that in any type of dystonia, and he has seen pretty much every weird thing there is. He asked if I could come back later in the week for more tests. Luckily, I had planned for that contingency, so I could.

On Weds, I went back to the NIH and had a surface EMG done. In this version of the test, everything is done on the surface of the skin (no needles) but does involve lots and lots of shocks (similar-ish to NCS). They hooked everything up to my hands and arms and shocked them repeatedly. I am extraordinarily sensitive external stimulation - it makes my muscles jerk pretty hard - so that was pretty much torture.

The head doc was surprised by the results that he was seeing, so he asked EMG doc to do an EEG as well. I had not had that test done before, and it also involved lots of repeated shocks. I thought I was going to get to talk to him again when the test was done, but the other doc just said, "Ok, all done. We'll get back to you in about three weeks!" And that was that ....

So, I'm still in limbo for a little longer, but seem to be getting closer. The HSP diagnosis seems to be completely off the table at this point. I never believed it anyway, but it's still hard to wrap my brain around after two years of coming to terms with it.

On a good note, I passed my dissertation defense after I got back from my trip and graduated yesterday :)

--Suzannah
 

lgelb

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Congratulations on your doctorate! That is quite a feat considering the circumstances.

Best,
Laurie
 

avnl

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Congratulations on defending your dissertation and graduating. Particularly in light of the stressors of you NIH visit and no diagnosis.
Anna
 

Green Queen

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Awesome Suzannah!
Like I have no idea what you are talking about...but as Anna says...

You've been through so much, an accomplishment like this (OK, so maybe I get it a bit) is fantastic!
 
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