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Suzannah

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Joined
Mar 19, 2014
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127
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DX MND
Diagnosis
08/2014
Country
Uni
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TEXAS
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Deep in the Heart of
Hi all,

As my title suggests, I am headed to the NIH (National Institute of Health) on Monday to take part in a research study on inherited neurodegenerative disorders. My current diagnosis is hereditary spastic paraplegia, but I have no family history of it and my symptoms don't really match up that well. I'm really excited to get to see some of the top researchers in the county to see if I can get any more insight into what is going on. And who doesn't like science? I can't wait to see their facilities.

After all the diagnostic stuff last year, I decided that if I'm going to do any traveling, I better do it soon while I'm still relatively mobile. So I have been to a bunch of places this part year. And I decided if I was coming to Washington DC, I might as well make a trip out of it. So I came this morning (Saturday) and am playing tourist for the weekend. It is only the second time I have gone on a trip by myself (mostly travel to see family or go with groups). It is good, but hard because my deficits are so much more clear in new situations.

I almost didn't make it on the plane. I was up really late getting beverything being ready and had to be up at 5am to drive myself to the airport, so I couldn't take my night meds. My legs were so spastic this morning that I could hardly lift my feet of the ground and was staggering around like a drunk person. When I was walking to the parking shuttle, my foot didn't clear some oddly placed concrete, and I fell. HARD. My hands were full so I couldn't catch myself, and I bashed the heck out of my knee. It is tremendously swollen and bruised, but luckiky doesn't hurt too much. It scared me. It's the fourth time I've fallen this year, and by far the worst. I am grateful it wasn't worse, though.

Looking forward to another day of touristing tomorrow and then science-ing Monday!

Suzannah
 

lgelb

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Sorry to hear about your fall! Hope it does not interfere w/ your tourism. Don't forget to ice the knee periodically.
--Laurie
 

Nikki J

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Joined
Mar 22, 2012
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PALS
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Would love to hear how everything went for you if you are willing to share? Hope you are feeling better and you had an enjoyable and useful trip
 

Suzannah

Distinguished member
Joined
Mar 19, 2014
Messages
127
Reason
DX MND
Diagnosis
08/2014
Country
Uni
State
TEXAS
City
Deep in the Heart of
Hi Nikki,

Thanks for asking. Other than falling on my face at the airport, the rest of my trip was really good.

During my visit at the NIH, I first met with the genetic counselor and talked to her for about an hour about family history and symptom history. Then I met with the doctor, who specializes in HSP. After talking to me for a while and doing some general neuro tests, he gave me a puzzled look and said, "This doesn't really seem like HSP." I told him I thought the same. He said that he wanted someone from the movement disorder team to look at me, and he was able to wrangle someone into doing it that day.

So I met with a young-ish movement disorder person, and after a few minutes, he pulled in two more senior colleagues. They all stayed in the room and took turns testing out different things (that was an interesting experience). They told me that my set of symptoms did not quite fit with any of the conventional movement disorders. And that while I had dystonia symptoms, they didn't think that I actually had dystonia as a primary disorder. So they didn't know, but I overheard one of them tell the first doc that I was "very interesting".

So they are taking a couple of days to talk things over, and they may want me to come back to see the movement disorder people. They are also going to run some genetic tests, but those can take months and months to get results.

So no real answers, which is what I anticipated. But some confirmation that HSP may not be the right answer. I am going to go see a high-level HSP specialist in Dec, so I'm hoping to get another opinion on that.

Rest of the trip was good. Got to play tourist for a few days and didn't fall down!

Thanks for asking.
--Suzannah
 

Nikki J

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Joined
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Messages
9,612
Reason
PALS
Diagnosis
04/2014
Country
US
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Thanks for the update. No fun being an interesting case! Hope someone can figure this out for you. Happy you had no more falls and had some fun!
 

Green Queen

Very helpful member
Joined
Mar 30, 2015
Messages
1,294
Reason
DX MND
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4/2016
Country
AUS
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Western Australia
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By the beach
Suzannah I was hoping the merry go round of diagnosis would end for you.
I'm glad they are continuing to look into it for you.

Besides the fall it does sound like you had a great time.

God bless, Janelle x
 
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