posted
Hi, I have been diagnosed with torsion dystonia, essential tremor,extrapyramidal disease, and gait disturbance. I know these are all descriptive versus a 'true' diagnosis. I am a speech pathologist and specialize in working with children with motor and neurological issues. I Have been seen by five neurologists. I finally found one who knew what he was looking at. I was an exceptional athlete until approximatley 7 years ago when things started to happen, primarily with fatigue or stress. After four years of going in and out of denial and an emotional roller coaster, I finally found a neuro who trained at the Mayo Clinic who didn't look at my blond hair, young for age face and slim body, excellent (but highly imbalanced) muscle tone, tremors and tell me that I was basically nuts and healthy, after every other doc said go to a neurologist. I kept thinking I was getting more sports injuries and had post traumatic stress disorder.
My primary who is a gem sat me down and said we (three excellent MD's including neuro) have collectively agreed that you have a connective tissue disorder with "muscle involvement", of a genetic nature... (they are trying to be careful because my sister had this and decided not to stay - she didn't find good doctors). My father is now immobile and can no longer speak but he is 72. I noticed his unsteadiness while standing when he was about 50. I held my grandfathers shaking hands to stop the tremor in his late 70's or and he didn't lose mental and psychological function as my father has (my grandfather was dx with parkinsons likely incorrectly but then that was about all there was and it was suggested to me a few times as well). So I have great hope, there is obviously great variation. Of six children in our family there are three of us left. Long story. I have been told I'm a brilliant person and wonder about the future. This may be a very rare disorder and everyone is a bit too quick to say, "no", when I ask if I should have genetic testing. I know they worry about me finding erroneous information since this varies greatly and do not want me to harm myself which I promise I will not. Does anyone have similar? Most of the time I stay in the moment. Right now I'm a bit scared. I just traveled for a short trip to San Fran and that brings reality to me as my symptoms increase with the stress of travel.
I take a very high dosage of Klonopin to sedate the torsion dystonia and decrease the tremor, and take small dosages of Keppra, Wellbutrin, Buproprion and Buspar along with CoQ10 and many antioxidants. The symptoms began before the meds if anyone is wondering. My MD's have worked very hard to balance me out so I can function at a very high level. Any advice - I am open. Thanks greatly. Annie
Posts: 12 | From: Seattle | Registered: Sep 2005
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I'm sorry you are experiencing all these problems. I hope you start to feel better (all things being relative) soon. I think torsion dystonia is just another name for generalized dystonia is that correct? I'm glad you at least have names for what is going on. For some odd reaeson that makes it seem easier. First of all you know you aren't nuts for feeling all these weird things in your body, and secondly now they can start treating you properly. I have paroxysmal dystonia. My body goes into these dystonic attacks whenever it feels like it. I'll be fine and then all of a sudden it just gets out of control. Sorry to be selfish here but I noticed you are from the Seattle area. I just moved to the Redmond area a week ago. It sounds like you have found a good neuro as well as a good gp. Do you mind if i ask their names. Is your neuro, or one of your neuro's a movement specialist? (Thanks for your help) According to everyone, you should have a movement specialist too. Oh, I've only been dx'd since June of this year. I guess I don't know specifically what you are asking for. I do know that Klonopin is highly sedative. I can't take Keppra - i use to take it for seizures and i could barely lift my head and it just changed my personality. I can't take Wellbutrin because I've had seizures, and I've not heard of the other. Is it buspar? I'm glad you are able to function at a high level. So many of the neuro meds whack you out. It sounds like you have a couple of really great things going your way. One - it sounds like you have a team of docs who can work together for you and also it sounds like you have a great attitude and are really well grounded. This is tough to deal with and some days will be harder than others, but remember on the hard days, that some days will be easier than others too. Take care of yourself. Another Annie
Posts: 32 | From: washington state | Registered: May 2005
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quote:Originally posted by budder: hi Angel Annie,
I'm sorry you are experiencing all these problems. I hope you start to feel better (all things being relative) soon. I think torsion dystonia is just another name for generalized dystonia is that correct? I'm glad you at least have names for what is going on. For some odd reaeson that makes it seem easier. First of all you know you aren't nuts for feeling all these weird things in your body, and secondly now they can start treating you properly. I have paroxysmal dystonia. My body goes into these dystonic attacks whenever it feels like it. I'll be fine and then all of a sudden it just gets out of control. Sorry to be selfish here but I noticed you are from the Seattle area. I just moved to the Redmond area a week ago. It sounds like you have found a good neuro as well as a good gp. Do you mind if i ask their names. Is your neuro, or one of your neuro's a movement specialist? (Thanks for your help) According to everyone, you should have a movement specialist too. Oh, I've only been dx'd since June of this year. I guess I don't know specifically what you are asking for. I do know that Klonopin is highly sedative. I can't take Keppra - i use to take it for seizures and i could barely lift my head and it just changed my personality. I can't take Wellbutrin because I've had seizures, and I've not heard of the other. Is it buspar? I'm glad you are able to function at a high level. So many of the neuro meds whack you out. It sounds like you have a couple of really great things going your way. One - it sounds like you have a team of docs who can work together for you and also it sounds like you have a great attitude and are really well grounded. This is tough to deal with and some days will be harder than others, but remember on the hard days, that some days will be easier than others too. Take care of yourself. Another Annie
Torsion dystonia can be any area or generalized and yes mine is generalized - just refers to that good old pulling by the muscle imbalance particularly my hands, feet and neck. generalized is when the legs become involved as well I believe. My MD's: Dr Christopher Lawrence- Neuro in Cabrini Medical Tower downtown- yes he is a movement d/o specialist as well. Not currently taking new patients but it's always worth a try. I have some I'd definitely steer away from but cannot mention here of course. re: Chris lawrence, You need to find a doc who knows him and have the doc call. My primary is Dr. Gary Blume - priv prac- Canyon Creek medical Clinic- Bothell but worth the drive- he kept me sane too and knew what he was looking at immediately. Dr. Blume taught in Med school, has a PhD in microbiology and an MD in family practice and is familiar with a variety of disorders and serves primarily complex patients. Feel free to call me 425 424 8755. My psychiatrist who kept me sane and started experimenting with meds to control the dytonia and muscle firing b/c he had no choice before I found the others when I was being told there was nothing wrong is Dr. John Petrich in the Redmond Medical Center- previously a family MD, Chief of staff of local hospital, etc. He kept sending me out there and said we'd just have to find a neuro who would actually listen - he studied me for 8 months after a neuro said I was fine but they simply didn't believe me (I think I checked just about every box on the intake form for symptoms at that time). Dr. Petrich sat and watched the chest wall muscles fasciculate and I'd ask if I could actually do that and of course he'd confirm it was impossible, and also the speed of my hand tremor if I bring my dystonic pinkies in is also impossible so he truly kept me sane. I wanted nothing more than it to be in my head. He experimented with meds in small dosages and knew by my responses to the different ones what some of the possible d/o were. He was very careful and then they eventually found me the right neuro who knew exactly what to do and he saw me every two to six weeks for a year and now I'm on the 8 week program so thats progress (that's alot for a neuro with a full practice but they truly were trying to figure it out and help me- he kept saying we need to get you feeling better... and also prescribed HTP5 and other supplements, to help with the dystonia and high muscle tone) re: the Klonopin - not sedating to me whatsoever - I had hyperreflexia and my nervous system is overactive apparently so it felt like it saved my life- reduced involuntary muscle firing which caused extreme fatigue(i.e., fasciculation). Recent EEG on meds showed normal to fast wave speeds so fine with it. Wellbutrin is in a small dose to offset the sed. of Klon. and less likely to set off seizures in small dosages as I do have a hx but not very frequent. A normal dosage of Well would be contraindicated. Keppra also in very small dosage. Buspar is an antidepressant/sedating - helps sleep. I take a very small amount compared to most. So while the Klon is high now- I started low b/c eventually habituate to it and then it needed to increase) the other meds are all very small compared to what most people take. This team knows how to mix for the symptoms and took the time, asked me to report back etc.
I wish you all the best in finding docs. Your so right that finally having some form of dx is helpful and I am so fortunate to have a supportive group of MD's who truly care and took the time to figure it out b/c I don't fit in a box. It's a tough area (Seattle)b/c everyone is full, but keep pushing until you find the right docs here. The climate is hard to work in some of the large institutions here I'm told (and have experienced). Best, Annie
Posts: 12 | From: Seattle | Registered: Sep 2005
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posted
Just my 2 cents... I was searching for Dr. Blume's phone number to fill out a change of insurance form... and came across this thread.
My wife and I are both Registered Nurses. Dr. Blume is OUR Family Doc!!. We have 4 children, 2 born in Washington State. Dr. Blume is our Pediatrician for all, including 1st visit at newborn stage for the 2 born here in hospital to present.
My wife has hypothyroidism and he deals very proficiently with that where her previous endocrinologist had fallen flat.
I suffer from migraines and he gave me a better explanation, more current than any Neuro Doc had, and put me on Topamax that got rid of them.
He's about the best family Doc your going to find, we love him to death, because not only is he smart and knowledgeable, he's friendly and available.
We can't say enough. He's great. I trust him. And as a Registered Nurse with 15 years experience in ICU/CCU, Cardiac Cath Lab and Management, that's not easily earned.
Nick
Posts: 1 | From: Everett, WA | Registered: Sep 2005
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posted
Thank you so much for posting this today of all days!! I happened to be having one of my worst days ever and happened to come to this forum and read your post. We have moved to the Redmond area about 3 weeks ago now so I will likely contact both these docs now. I'll keep my fingers crossed.
THANK YOU SO MUCH FOR THE INFO. I CAN'T THANK YOU ENOUGH. Good docs are so hard to find - not to mention ones who have even heard of dystonia.
I hope you both are feeling fine and doing well.
Annie
Posts: 32 | From: washington state | Registered: May 2005
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quote:Originally posted by Angel Annie: Hi, I have been diagnosed with torsion dystonia, essential tremor,extrapyramidal disease, and gait disturbance. I know these are all descriptive versus a 'true' diagnosis. I am a speech pathologist and specialize in working with children with motor and neurological issues. I Have been seen by five neurologists. I finally found one who knew what he was looking at. I was an exceptional athlete until approximatley 7 years ago when things started to happen, primarily with fatigue or stress. After four years of going in and out of denial and an emotional roller coaster, I finally found a neuro who trained at the Mayo Clinic who didn't look at my blond hair, young for age face and slim body, excellent (but highly imbalanced) muscle tone, tremors and tell me that I was basically nuts and healthy, after every other doc said go to a neurologist. I kept thinking I was getting more sports injuries and had post traumatic stress disorder.
My primary who is a gem sat me down and said we (three excellent MD's including neuro) have collectively agreed that you have a connective tissue disorder with "muscle involvement", of a genetic nature... (they are trying to be careful because my sister had this and decided not to stay - she didn't find good doctors). My father is now immobile and can no longer speak but he is 72. I noticed his unsteadiness while standing when he was about 50. I held my grandfathers shaking hands to stop the tremor in his late 70's or and he didn't lose mental and psychological function as my father has (my grandfather was dx with parkinsons likely incorrectly but then that was about all there was and it was suggested to me a few times as well). So I have great hope, there is obviously great variation. Of six children in our family there are three of us left. Long story. I have been told I'm a brilliant person and wonder about the future. This may be a very rare disorder and everyone is a bit too quick to say, "no", when I ask if I should have genetic testing. I know they worry about me finding erroneous information since this varies greatly and do not want me to harm myself which I promise I will not. Does anyone have similar? Most of the time I stay in the moment. Right now I'm a bit scared. I just traveled for a short trip to San Fran and that brings reality to me as my symptoms increase with the stress of travel.
I take a very high dosage of Klonopin to sedate the torsion dystonia and decrease the tremor, and take small dosages of Keppra, Wellbutrin, Buproprion and Buspar along with CoQ10 and many antioxidants. The symptoms began before the meds if anyone is wondering. My MD's have worked very hard to balance me out so I can function at a very high level. Any advice - I am open. Thanks greatly. Annie
posted
The only thing I can suggest is Zonisamide instead of Keppra. They are both a Type-T Ca ion channel blocker. Also Zarontin or ethosuxamide may be an option.
Cheers
D.
Posts: 19 | From: Ontario | Registered: Jan 2005
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posted
Thank you for your suggestions. I will ask about them. My dosage of Keppra is very small but I do know I can't tolerate going up on it so this is helpful.
Posts: 12 | From: Seattle | Registered: Sep 2005
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