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Suzannah

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DX MND
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Uni
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Deep in the Heart of
Hi all,

As many of you know, I was diagnosed with Hereditary Spastic Paraplegia last summer. The only definitive way to diagnose it is through genetic testing, which I had done recently. My results did show a mutation, but it was a rare one of "unknown certainty". So, it might be the problem, and it might not.

Since I was diagnosed, my symptoms have gotten a lot worse, and my arms and hands have become very involved. HSP is usually slow moving, not fatal and tends not to affect the arms (though it can). I have been in doubt about the correctness of my diagnosis, especially since I don't have it in my family anywhere that I know of.

I went to see a movement disorder specialist yesterday at the advice of one of the top HSP researchers that I met at a conference a few weeks ago. She was the first doctor I saw last year, but after my MRI report came back clear, I went to go see a neuromuscular specialist because it seemed pretty clear that I had motor neuron issue.

While I was there yesterday, she pulled up my MRI pictures from last year and immediately noticed that there was atrophy in my cerebellum, which helps control motor movement. Even I could see it. She called up the original radiologist and had him view the images, and he agreed that it did look abnormal and should have been noted.

All this time, everyone has been working off the assumption that my MRI was normal, and it turns out, it wasn't. This potentially changes everything. I am going to do a repeat MRI later this week to see if it has progressed. If so, she said we would have to look into a category of disorders called leukodystrophies. I was not familiar with that term, but I looked it up, and none of them end well.

Oh, and also while I was there, she asked me if I was faking, and told me that if I was, she would eventually find out about it. So I should just tell her now before we get in too deep in time and money with the diagnostic process. I started crying when she asked that because um ... no.

I pretty much cried the whole rest of the day yesterday. I had reasonably come to grips with the idea of having HSP, but this potentially changes everything. New MRI this week, then off to Mexico for a week to have fun, and then follow-up appointment when I get back.

I'm pretty freaked but trying to stay calm. Thanks for listening.
--Suzannah
 

Nikki J

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Wow Suzannah! I am so sorry. Usually misdiagnosis is good news here but I am really sorry to hear this
And really angry at your neuro who apparently did not review your mri during your initial consultation and who accused you of FAKING?! I hope once she looked at the mri she grovelled and apologized? Please keep us posted and know we will support you any way we can
 

ShiftKicker

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First of all, what an OUTRAGEOUS and unprofessional thing to say to someone with diagnosed motor neuron disease. This was a doctor? After an MRI indicated cerebellar involvement? Do you have a physician's board or ombudsman ho can take complaints? How medically irresponsible. If a doctor is actually concerned about "malingering" or having some sort of conversion syndrome, they should be referring you to a psychologist, not accusing you of faking.
I am so sorry you were put through that.
There is a genetic test that you can get for the leukodystrophies. I had the test when they were knocking off all the possibilities before arriving at my "working diagnosis" of PLS. The test is called "very long chain fatty acids" and can help diagnose Adrenoleukodystrophy or Adrenomyeloneuropathy. Both of which, you are correct, are awful. However, not generally terminal for women. Another, Spinocerebellar Ataxia, also has genetic markers, and the tests are, apparently less expensive than the HSP marker tests.
Once again, that was an immensely irresponsible and unprofessional thing for a doctor to say- I recommend finding another.
 

Suzannah

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Messages
125
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DX MND
Diagnosis
08/2014
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Uni
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Well, to be fair, she did say that the question about faking wasn't "personal" and that she just had to ask because she did. Because sometimes people go to crazy lengths to fake things. But she asked that at the end of the visit, AFTER we had already reviewed: abnormal EMG report from Appel's clinic, an abnormal genetic test, and an abnormal MRI finding *that I didn't even know about*. Can't really fake those things .... She did give me a hug after she made me cry.

My symptoms are pretty weird, I'll give her that. I suspect that I have a rare version of a rare ... something.

After she ordered the MRI last year and I got back the report that it was normal (and I picked it up and read every word of it), she did not actually see me again because I went to the neuromuscular doc. The neuromuscular doc then referred me to Appel's clinic in Houston. I suspect that none of those people ever looked through the actual images till now. So it just sort of fell through the cracks. The doctor from yesterday was pretty mad at the radiologist, who failed to report it in the first place. She could see it immediately, even in a little tiny thumbnail size picture on her computer.

I'm trying to not to get ahead of myself till I get the new MRI done (Friday). SK, thanks for the info about the testing. I guess that might be the next step, depending on what the MRI says.

Thanks for the support.
Suzannah
 

Green Queen

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Suzannah my heart breaks for you. The best description is the diagnosis merry go round! I'm not glad, but I'm glad you cried when she asked that question. She may say it's not personal, however I do think they tend to forget it's very personal to us! It's frustrating being a number.
The best thing to do is have an awesome time in Mexico!
God bless, Janelle x
 

tripete

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PA
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Lancaster
In my year and a half on the merry go round I was repeatedly told that I just needed to "suck it up" and get back to excersizing. Even the ALS Specialist doctor who first diagnosed me was telling my wife and I that it was all "in my head" while he was starting to do the EMG. Then we started to hear loud crackling noises, the screen did it its weird jumping thing and he got very quiet. 30 minutes later it was no longer all "in my head" but I was being told I had ALS. He turned out to be my favorite of the three ALS specialist I have seen - Dr Pulley Jacksonville, Fl. He followed up with me personally and even personally returned phone calls when I left messages with his nurse. He is a good guy.

These diseases are I guess difficult to diagnose. It is critical that we keep track of ourselves and become our own best advocate. Keep pushing and don't stop until you know what is going on.
 

Suzannah

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DX MND
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08/2014
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Deep in the Heart of
The first time I visited her last year, I wanted to be evaluated for essential tremor (which I was pretty sure I had) and for the reason I couldn't flex my feet. She evaluated the tremor first, and it was almost immediately clear that it was essential tremor, but she placated me by completing all the tests but I could tell she was just humoring me. But then she picked up my leg and moved it, and the expression on her face absolutely changed. She told her assistant, "That's spasticity!" and then moved my ankle "and that's clonus!" She pretty much stopped the exam right there and started writing up order for an MRI (she thought I had MS. So did I).

Incidentally, this is the second time I have been questioned about faking in the last six months. I had a neuropsych exam in December because I was worried about my memory. The neuropsychologist told me afterwards that I had the "oddest set of results he had ever seen in 35 years" and that both he and the examiner had suspected during the exam that I was faking. (But they gave me some secret "faking tests" to see if I was, and of course, I wasn't). The reason? I scored in the 99th percentile on a test that assesses how fast and accurately you can answer simple math question, and I scored in the impaired range on finger tapping and hand strength. Well, let's see .... I teach math, among other things for a living, and I have a freaking motor neuron disease! My hands close into fists, so stuffing my hand around a pencil is a completely different fine motor skill then trying to do alternating movements quickly. Also, because I had such high math results and terrible terrible visual spatial skills, which he said is virtually unheard of. Well, too bad. Those are the things I am really good, and really impaired at. So there.

Argh. Doctors.
 

Nikki J

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Yikes Suzannah! That is really bizarre. If someone was a full quad would they have suspected faking too because they failed tapping etc?

Historically I have always scored high in math and numbers but spatial reasoning tests were always hard so I totally relate to that part
 

Suzannah

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Messages
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DX MND
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08/2014
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Uni
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Deep in the Heart of
Hi,

I thought I would give an update.

So, I saw this particularly neurologist two Mondays ago, and after she mentioned leukodystrophies and I looked them up, I spent most of the week pretty much crying hysterically. I didn't think there were any disorders worse than ALS, but this category of disorders can cause all of the ALS symptoms, and then can also take your vision, hearing, and cognition. Then you can end up a vegetable and die of pneumonia 10 years later. So. Yeah. Pretty distraught to find that I might have something in that family.

I had the MRI done on Friday and got the CD of images when I left. I looked through them played internet radiologist and decided the pictures of atrophied cerebellums on the internet looked just like mine (the cerebellum is easy to identify on MRIs). So I cried hysterically all day and tried to decide if I wanted to pick up the report or not before I headed to Mexico the next day. I finally decided to go ahead and pick it up, and it was NORMAL! Well, that's what the report said anyway, which is what the first report said. But there didn't appear to be any gross abnormalities, anyway.

OMG. Such trauma that caused me. I have a follow up appt with her this week, so I'll see what she says. I think I will probably still have to do some blood tests to rule out some things for sure. But hopefully I am in the clear on that front.

And, I had an excellent time in Mexico on my yoga retreat :) Just what I needed after such an awful week.
 

Nikki J

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Glad you had a good trip. And thrilled that the mri was read as normal. Hoping your visit this week will bring confirmation of this and some happier direction
 

wendya432

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Crossing my fingers that it is normal!
 

Suzannah

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Joined
Mar 19, 2014
Messages
125
Reason
DX MND
Diagnosis
08/2014
Country
Uni
State
TEXAS
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Deep in the Heart of
Well, I went back to see her, and I'm not off the hook, yet. She picked out the exact same slice of the MRI that I did, sighed, and said, "I don't understand these radiologists." She was going to call them back and make them look at it again. I see her again next week.

But in the meantime, something else totally interesting has happened. She gave me a trial of L-Dopa (what people with parkinson's take) to rule out a literal one in a million chance of having something called Dopa Responsive Dystonia. Dystonia is often mistaken with spasticity, and I have a lot of features of it.

I have been taking the medication for a a week now and it is WORKING. OMG. My fingers and toes have stopped curling so much, my muscle tone is way down in arms and legs, and I can stand flat on my right foot for the first time in years.

So now I have no idea what to think .... Luckily, I got accepted into a diagnostic NIH study on inherited neurodegenerative diseases, and I will be traveling there to take part in Oct. I also got an appt in Dec with Dr. Fink in Michigan, who is "the" HSP guy. I met him in Seattle this summer at the HSP conference, and he was the one who suggested seeing the movement disorder specialist because he thought I might actually have dystonia.

So now I'm more confused than ever ... but hopefully some answers will come my way soon!

Suzannah
 
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