Suzannah
Distinguished member
- Joined
- Mar 19, 2014
- Messages
- 132
- Reason
- DX MND
- Diagnosis
- 08/2014
- Country
- Uni
- State
- TEXAS
- City
- 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
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