In Michigan for opinion number ... six?

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Suzannah

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Hi all,

As I've mentioned here before, I've been trying to pin down a definitive diagnosis for the past two years or so. I was diagnosed with hereditary spastic paraplegia at Houston Methodist, but I don't have a family history or clear genetic evidence. My symptoms have changed a lot since then and don't entirely match up with HSP. I was at the NIH for an HSP study last month, and the research doc told me he didn't think my presentation was consistent with HSP.

In June, I briefly met Dr. John Fink at an HSP conference. He seems to be"the" guy for HSP diagnosis and research in the US. I called for an appt in July, and the earliest available appointment was in Dec. Well, it's Dec now, and my appointment is tomorrow. I have safely made it to Michigan from Texas (75 degree weather to 32 degree weather. Brrr) and am looking forward to my appointment. My mother came with me, which is nice because I usually have to deal with everything by myself.

I am super curious to find out what he has to say!

Suzannah
 

ShiftKicker

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Good luck Suzannah! I hope you can get some answers. Your path has been a long one. I sincerely hope there's some positive news and Dr Fink can either give you some solid info or point you in the right direction.
I'll be thinking of you tomorrow, braving the frigid Mi weather.

Fiona
 

Vincent

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Good luck tomorrow. I can relate to the long journey to diagnosis being 2 years plus being poked, prodded and stuck in machines kinda sucks.
Vincent
 

Green Queen

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All the best Suzannah.
A firm diagnosis gives you a starting point.

I hope you and your mum get some quality time in, as well as some serious shopping!

God bless, Janelle x
 

lgelb

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Will be thinking about you.

Best,
Laurie
 

ShiftKicker

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Suzannah- I hope all went well for you. Thinking of you
 

Suzannah

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Hi all,

Thanks so much for the messages of support. I read all of them but was having trouble logging in from my phone while I was gone.

The visit was very very good. I spent about an hour talking to the resident doctor and the geneticist, and then about an hour and a half with the doctor. After all of that, he un-diagnosed me with HSP. He said that I do not show signs of spasticity, paraplegia, or paraparesis (weakness). That was interesting to hear, especially since I have spent the last two years believing (and being told by multiple doctors) I had a spasticity disorder.

He said that the constant muscle contractions and spasms I have in my legs, feet, and hands are not a result of spasticity, but rather of dystonia. Dystonia is a movement disorder that causes "sustained muscle contractions cause twisting and repetitive movements or abnormal postures that is often initiated or worsened by voluntary movement and can overflow into other muscles." Yep. That pretty much describes it. I've had my suspicions about dystonia for a while.

However, dystonia can be a primary disorder all on its own, or it can be a symptom secondary to another disorder, which is often Parkinson's. Foot and leg onset is apparently fairly rare in adults, and it is also rare for adult onset dystonia to spread to other parts of the body (I have involvement in all my limbs). There is an even rarer form (literally 1 in a million) that is responsive to L-Dopa, the drug given to Parkinson's patients.

I tried a trial of L Dopa this summer and had some pretty dramatic results, but then it started to wear off and I was taken off of it. This doctor put me back on it to see what happens. He had me take a dose at his office, wait for an hour, and then he re-evaluated my gait and tone. There was actually a noticeable difference, so it's possible that's the form I have.

When I was the NIH in October, they ran a dystonia genetic panel, and I am waiting for those results to come back. They also just told me I can come back in February to see the movement disorder department. I'm hoping those things will bring further clarity.

So ... I don't know how to feel. I had reasonably come to terms with having HSP. It's not that awful, as far as awful neurological disorders go. Dystonia has a few more symptomatic treatments than HSP but can be extremely debilitating as well. Since my onset is atypical, I do wonder if it is still secondary to something else. On the other hand, if it is the dopa-responsive kind, that is the best news I could get. I'm not sure how I feel that I have spent two years possibly going down the entirely wrong path.

But I am very glad that I went. He was very confident that I don't have HSP, and since he specializes in it, I believe him. My goal of the appointment was to rule OUT HSP if that was the case, and it appears to be. So I'm glad to have that information.

Thanks for your thoughts.
--Suzannah
 

ShiftKicker

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Oh my goodness. More questions than answers for you! Glad you got some information at least.
I sincerely hope they have a bit more info and help for you in February. Are you still taking L Dopa?
I confess to some curiosity about the difference between dystonia and spasticity, and how it could be you had been diagnosed with a umn condition (HSP) in the past. Did the neuro give you any particulars about why- is dystonia that similar to spasticity during clinical exams?
 

Nikki J

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Thanks for updating us. Sounds like there is at least reason to hope this is good news if you do indeed respond to L Dopa. Did you discuss if it may you need to cycle on and off to maintain effect? And maybe another visit to NIH will complete the picture?
Hoping for the best for you
 

Chris3274

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Hi Suzannah"

My story is exactly opposite of yours. I was diagnosed with either Parkinson's or Dopa Responsive Dystonia because of what the doctors thought was dystonia and not spasticity. I had a terrific response with the drug sinemet. For two days only. I spent $5000
to take a test which ruled out Parkinson's. This was at UCSD. Finally I was diagnosed
at NIH with PLS. Dystonia was spasticity. Talk about a roller coaster ride. Every one
on this site has a reserved seat on that ride.
It's really interesting our mental gyrations. I was so relieved to know it wasn't Parkinson's.
Then PLS set me back again and then I was relieved to have PLS in lieu of the other horrible options.
What amazes me is this; people of all ages walking around, moving effortlessly, playing,
dancing, running and they have no idea what is out there to take them down. It is a crap
shoot. I vacated my "that'll never happen to me" seat and now someone else is it in. Until
they vacate. Like Musical chairs. But they have no idea.
HOW DID THIS HAPPEN TO ME? I'm haunted by that. What the heck did I do wrong.
Didn't I appreciate my life? My husband said I did. I was under a lot of stress at different
times. NIH said stress did not cause this but will exacerbate the symptoms.
I think one common thread is energy and athleticism. Seems everyone here was extremely active. I saw a video once where the person drew the same conclusion. Good luck to you.
Chris
 

Suzannah

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SK- yes, apparently dystonia and spasticity can be very hard to distinguish between since they both involve hypertonic muscles. I also have hyperreflexes and clonus just about everywhere, which are also, of course, hallmarks of UMN syndromes. I was originally diagnosed at Houston Methodist by Dr. Appel, who is pretty top notch, and I was wondering how that got missed. But then I remembered that he didn't do the clinical exam - his resident did. And my mom was with me, and she has some stiffness in her legs (later diagnosed as rheumatoid arthritis), and they took that as a family history and ran with it. I guess. To add to the confusion, spasticity and dystonia can coexist, and there is something called spastic dystonia. So ... who knows. I don't fully understand it.

Nikki - people who have dopa responsive dystonia appear to only need small appointments of L-Dopa in regular intervals for pretty much forever. It's apparently different than parkinson's where you have to keep taking more and more and cycle on and off. I've been taking it for a few days and am definitely having an effect. I had PT/OT today and pilates yesterday and everyone who works with me could tell a difference. Tentatively crossing my fingers but trying not to get my hopes up. And yes, one more visit to NIH after I get my genetic tests back, and then I think I am done looking.

Chris, that is FASCINATING that your story is exactly the opposite of mine. Wow. That is so strange. I had a super response for several days to L Dopa this summer, and then a wearing off. Also did the $5000 test to see if I have Parkinson's. What made NIH decide you had PLS instead of dystonia? When I was there last month for an HSP study, the doc was like, ummmm ... this isn't spasticity.

And I had one of those "how did this happen to me" moments today. It was time for my quarterly botox injections, and even though I know getting them may confuse things with the trial of l dopa, I didn't want to forgo them. They are extremely painful, and I get about 22 injections all over my legs and several in the bottom of my feet. When they got to the foot injections, they hurt so bad I just started sobbing and then couldn't stop. They had to leave the room for a while so I could just cry my eyes out for a while. It's unusual for me to cry, especially in response to pain, but it was just that "one last thing" that totally put me over the edge. The pain, and imaging a lifetime of this and the "how did I get here?" Sigh.

Suzannah
 

Green Queen

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Suzannah I really feel for you.
Crossing something else off the list is great, but when it's a bloody long list...

I get your tears. There would be relief in there for no HSP, but also total angst over what is next.

We are with you all the way.

God bless, Janelle x
 
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