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SpinoCerebellar Ataxia

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Unread 03-09-2012, 11:20 PM   #21
joy5
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Originally Posted by Garrittygirl View Post
I really thought I was losing my mind (no pun intended) when I would explain to the doctors here West Virginia, where I live, Ohio and Maryland, about these other symptoms that I experience. I was soooo tired of hearing that I was "depressed" and needed to see a psychiatrist for stress-induced symptoms that were causing "Conversion Stress Syndrome" and nothing else. Until I found this website support group, I was truly beginning to doubt my own belief in myself and my own sanity. And I have been afflicted with SCA since 02-24-04 - exactly 2 weeks after my 38th birthday.

Hi. I don't really have much time for writing and even though I would like to be a part of forums I hate trying to remember passwords, but I know how helpful it is to hear that others have struggled with similar symptoms and experiences. All these years I've gone through it alone because I don't really know anyone else with spinal cerebellar degeneration. I'm the only one in my family. I did meet two other persons at a summer camp for people with disabilities but they did not stay in touch or talk much. I was diagnosed with spinal cerebellar degeneration in 2003 after 4 years of going to the doctors. It was the 4th neurologist who looked at my same MRIs and said that my spinal cord was thining and there were problems with my cerebellum and probably the pons in the base of my brain. The SCA genetic testing didn't identify a code for me yet. Gluten intolerance and allergies runs in my family. I was also sent to psychiatrist first. The neurologist who diagnosed me told me he was sorry for how the other doctors mistreated me and what I've gone through because he knew right away that I had a neurological problem based on my speech. In addition, because it is rare only older doctors would know about it because a doctor may only see one or 2 cases in his whole career. And even after the diagnosis when I had a seizure after another doctor shone a light in my eye after I told her not to shine it in my eye she sent me to a psychiatrist to rule out conversion disorder too.
My muscles are also sensitive to temperature extremes of hot and cold, with the heat be in the worst. This also caused of delay in the diagnoses because even crossing the street were walking up curb cuts was like a friend watching me said “climbing a mountain.” But in the air-conditioned doctors offices I initially walked just fine. But I was walking over 2 miles a day prior to this! Then this led to difficulty climbing stairs. Then walking just a few blocks would have me so fatigued that I'd have to take long naps and still sleep through the night 10 hours. I had chest pains prior to the problems with my legs. It took 10 years of abnormal tests to finally get a diagnosis which is not considered serious it's just that similar to spasms and the rest of my muscles my arteries in my heart also spasm, especially when I get too hot or too cold. My digestive muscles haven't been much better. When I was given medicine by the cardiologist for the spasms along with the usual baclofen the horribly painful spasms in my belly and bladder also went away for at least decreased to a bearable level. I get burning nerve pain in my arms and legs but also don't take narcotics because I'm sensitive to them to make give me horribly dizzy and nauseated even at a very low dose.
It's been 11 years since all of this started and I like to say to those with no diagnoses who may be scared, although I went from walking to using a walker to using a motorized wheelchair in 4 years, I have not lost much more function since then. I can still walk some, sideways in my home. They said I have proximal weakness which I believe means that the muscles in my thighs aren't able to tell my knees to lift up my legs and similar happens with my arms. I too am frustrated with doctors and have stopped pretty much trying to explain the different things that happened to me to doctors especially specialists. They only go by old textbooks and test protocals. It's like I can't feel my legs in the inside or placement of my feet, yet there is an almost constant burning sensation and I can feel doctors poking and scratching my legs on the outside. So one doctor wrote that I have full range of motion. My left side of my body is weaker and number than the other. My hands get very briefly temporally paralyzed when they get too hot. But I have been living a very full life and recently earned a Master’s degree. I only had seizures at night a few times because I make sure I get enough sleep at night and drink enough water.
I do hate going to the hospital because they do not know what to do with me even though I have felt in distress. Recently I have been having problems breathing during the day. I’ve used a BiPAP machine at night for sleep apnea since 2005 when I started gasping for breath whenever I would fall off to sleep. In the emergency room they admitted me to the hospital for only a part of a day because they could not see my distress during the day although my ribs and chest was sore and my nostrils were flaring. This is all scary to me because I do not want to have to have to use a breathing machine during the day. I’m hoping a pulmonary/sleep disorder doctor, who works with patients with neuromuscular diseases, will help me during the night so that I do not have trouble during the day. The appointment is in May. I think I did have an infection because I feel better since the ER visit in January. But still get short of breathe with fatigue in the evening. So in my research about symptoms and frequency of respiratory problems in those with neuromuscular diseases and need for support led me to this forum.

Last edited by mrsD; 03-10-2012 at 01:19 AM. Reason: fixing quote tags for clarity
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Unread 05-30-2013, 03:48 AM   #22
Ashanti
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Default SCA Type 1

Hello Everyone, . I am living in South Africa, and was diagnosed with SCA Type 1 last October ’12. Unfortunately, in my case it is genetic. We can trace it back to my maternal grandmother’s brother who had it (he was the only one to have it - although at the time not much was known about the disease and only from the symptoms that he presented, is it being presumed that he had SCA), and 3 of his 6 children had it. My grandmother didn’t have it nor did any of her children – 7, but it has manifested itself in the families of 3 of her children, my mother and her 2 older brothers. Whilst our parent didn’t have SCA, each of my uncles have lost 3 children each to SCA, and my mother has lost one already – my eldest brother. I now have an older brother who was diagnosed with SCA +/- 5years ago, and last year I was.

I am so happy to have found an online `SCA family’ to share my fears with. I was referred to a Neurologist by my Diabetic Specialist because I started having a problem with pain/burning feet and my doctor thought that Neuropathy was starting to develop in my feet. However she did know my family history of SCA as well and recommended that I be tested for it. Luckily my medical aid did pay for the genetic testing. On receiving the results I asked that particular neurologist what the way forward was and his response was; “there’s no known treatment, and no known cure. This is an incurable disease and all we can do is monitor the shrinking of the brain annually by way of an MRI”.

That’s not what I wanted to hear, nor did my immediate or extended family. Everyone started phoning or asking around, and we found another Neurologist, a much younger person who appeared to be far more clued up on new developments in the Neurological field (apparently he is among the Top 10 Neurologists in South Africa). I visited him in November last year, he did confirm the diagnosis and also the statement about the treatment and cure for SCA, however he did say that there was medication “out in the market” that could help with the stumbling/instability/shaking and also help with the memory. It was just a matter of getting “the right cocktail”.

I have been on a “cocktail” of Azilect, Symmetral, Integral and Livifem (which I take at different times during the day), and it seems to be working (please God I ask). I have seen how people looked at my eldest brother and thought that he was drunk, and even when he spoke. It’s now happening to the other. That is my fear, how will I handle it.

My apologies for “loading” all this on you guys, and I hope you’ll understand that I just need to “speak” with people who understand when I am and coming from. Thanks. God Bless!
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Unread 05-30-2013, 04:34 AM   #23
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Quote:
Originally Posted by brotherman View Post
Anybody would be confused, angry and hopeless in the face of a diagnosis of SCA. You will, and I suggest you do, look everywhere on the web for likely symptoms and what you can expect. I would suggest that if you had SCA 3 or Mikado-Joseph disease, you would have symoptoms long before now and would not bother to ask. I also suggest that having genetic testing is a waste of money and will tell you nothing. Testing costs 12K$ and will tell you only what variant of the 30 or so variants there are when all the symptoms are virtually the same regardless of the variant you have.

Further, don't waste time or money going to China for Stem Cell tx. This will at best back off your sx. a few years and is mostly due to the physicsl therapy they do in conjunction with this.

Suggest you develop habits that are helpful. Turn on the bathroom light before you walk in and avoid the dark that will trip you up. I have fallen down between the john and the tub and this is no fun. Look where you are going at all times. You can't dance, swim, run or bike. Learn to live with your limitations and explore what you can still do. Don't think you can do what you used to do and overdo it. Fatigue is one of many universal symptoms. Just think, you don't have to mow the lawn anymore. Accept the aging process and learn to live with this - you'll be happier. Love the kids. They'll do anything to help Mom.

Remember, you did nothing to cause this problem. NOTHING!! This is hereditary and you were doomed to this before you were born. It may suck but you can live with it. I was the tailback in high school. I used too bike 100m every weekend. I used to swim like a fish and run like the wind. Those days are gone. Sorry for the reality but you need to know.

Brotherman
So true, Bortherman, so true! That's the hadn that life has dealt us, but it still sucks. Unfortunately, if it is hereditary, then not only do You have it, but you may have passed this deformed gene onto your kids. That's just as horrendous. Ashanti.
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Unread 05-31-2013, 12:23 AM   #24
Yimmer
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Quote:
Originally Posted by brotherman View Post
Anybody would be confused, angry and hopeless in the face of a diagnosis of SCA. You will, and I suggest you do, look everywhere on the web for likely symptoms and what you can expect. I would suggest that if you had SCA 3 or Mikado-Joseph disease, you would have symoptoms long before now and would not bother to ask. I also suggest that having genetic testing is a waste of money and will tell you nothing. Testing costs 12K$ and will tell you only what variant of the 30 or so variants there are when all the symptoms are virtually the same regardless of the variant you have.

Further, don't waste time or money going to China for Stem Cell tx. This will at best back off your sx. a few years and is mostly due to the physicsl therapy they do in conjunction with this.

Suggest you develop habits that are helpful. Turn on the bathroom light before you walk in and avoid the dark that will trip you up. I have fallen down between the john and the tub and this is no fun. Look where you are going at all times. You can't dance, swim, run or bike. Learn to live with your limitations and explore what you can still do. Don't think you can do what you used to do and overdo it. Fatigue is one of many universal symptoms. Just think, you don't have to mow the lawn anymore. Accept the aging process and learn to live with this - you'll be happier. Love the kids. They'll do anything to help Mom.

Remember, you did nothing to cause this problem. NOTHING!! This is hereditary and you were doomed to this before you were born. It may suck but you can live with it. I was the tailback in high school. I used too bike 100m every weekend. I used to swim like a fish and run like the wind. Those days are gone. Sorry for the reality but you need to know.

Brotherman
Good Day...........I am trying very hard to accept that I have SCA and move on with my life. I just get so angry that I went for years and spent lots of $$$$ trying to find out what was wrong with me. They almost had me convinced I was crazy and locked me up but I knew something else was wrong and it wasn't mental....I lost many years of my life but I guess you can't change past just future. I'm working on that... My wish is that we bring awareness to Ataxia...It just breaks my heart for these young people that have forms of Ataxia and can't get a DX. Just knowing what is wrong with you gives you peace of mind or it did for me. You have made some very good points and I try very hard to forget the active things I did and move forward.....My brain says this is my reality but my heart doesn't always agree. Thanks for sharing your wisdom and thoughts. Peace and kindness always......Yimmer
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Unread 05-31-2013, 05:40 AM   #25
pabb
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I realize that these are inherited. but please get checked out for celiac as well, even if neg on tests, try the diet for 6 months or so, apparently gluten ataxia patients are commonly neg. on blood tests. Also, CoQ10 has some effect also.
Any patient can have more than one cause for a problem. good luck.
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Unread 06-22-2013, 08:11 PM   #26
mshane123
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Default Spinocerebellar Ataxia

I truly appreciate your insight, I have to keep reminding myself it nothing I did. I am trying to stay posivite.

THanks

Quote:
Originally Posted by brotherman View Post
Anybody would be confused, angry and hopeless in the face of a diagnosis of SCA. You will, and I suggest you do, look everywhere on the web for likely symptoms and what you can expect. I would suggest that if you had SCA 3 or Mikado-Joseph disease, you would have symoptoms long before now and would not bother to ask. I also suggest that having genetic testing is a waste of money and will tell you nothing. Testing costs 12K$ and will tell you only what variant of the 30 or so variants there are when all the symptoms are virtually the same regardless of the variant you have.

Further, don't waste time or money going to China for Stem Cell tx. This will at best back off your sx. a few years and is mostly due to the physicsl therapy they do in conjunction with this.

Suggest you develop habits that are helpful. Turn on the bathroom light before you walk in and avoid the dark that will trip you up. I have fallen down between the john and the tub and this is no fun. Look where you are going at all times. You can't dance, swim, run or bike. Learn to live with your limitations and explore what you can still do. Don't think you can do what you used to do and overdo it. Fatigue is one of many universal symptoms. Just think, you don't have to mow the lawn anymore. Accept the aging process and learn to live with this - you'll be happier. Love the kids. They'll do anything to help Mom.

Remember, you did nothing to cause this problem. NOTHING!! This is hereditary and you were doomed to this before you were born. It may suck but you can live with it. I was the tailback in high school. I used too bike 100m every weekend. I used to swim like a fish and run like the wind. Those days are gone. Sorry for the reality but you need to know.

Brotherman
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Unread 03-01-2014, 07:42 PM   #27
TeenaM
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Hello. I am new here. I was just diagnosed this week and reading what is posted has been very helpful. Why does it seem to be that doctors blame the patient when they can't figure out what is wrong? I was sent to a very "reputable" practice and the doctor thought I had essential tremor, but when the medication did not work she wanted me to see a psychiatrist. I knew this was not something I was doing, so I found a new doctor. He could not figure me out, but he sent me to someone else instead of thinking it was me. I have read that others were also sent to psychiatrists, that is just not right. It wastes time, money, and makes the patient feel like an inch tall. Why can't some of them just say "I don't know"?
On another note, does anyone know approximately how many people get diagnosed with SCA? I forgot to ask my neurologist how common it was. I don't see him again for several months and could forget to ask again.
Thanks for letting me vent a bit.
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Unread 03-02-2014, 12:17 AM   #28
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Hi Teena, Welcome.

Quote:
Originally Posted by TeenaM View Post
On another note, does anyone know approximately how many people get diagnosed with SCA?
That may be difficult to determine because:
Quote:
There have been up to 60 different types of SCA identified (most are found on autopsy) as there is no test that can tell if an individual has SCA or what type it is. Many are misdiagnosed or go years without knowing the exact type.
http://en.wikipedia.org/wiki/Spinocerebellar_ataxia

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Unread 03-02-2014, 03:56 AM   #29
Linzi grant
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Hi ther,.. My daughter is also suffering from these symptoms,.. She has a undiagnosed neurological problem wiv ataxia,.. Her name is lexi and she is 4yrs 10 months.. Lexi was progressing like any other child of her age should do,.. Up until November anyways,.. Since then she can no longer walk on her own as she falls her gait is so unsteady and lexi can no longer write her name n draw as her arm starts wandering up. Anyone please help shed some light x
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Unread 03-03-2014, 09:26 AM   #30
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Originally Posted by Linzi grant View Post
Hi ther,.. My daughter is also suffering from these symptoms,.. She has a undiagnosed neurological problem wiv ataxia,.. Her name is lexi and she is 4yrs 10 months.. Lexi was progressing like any other child of her age should do,.. Up until November anyways,.. Since then she can no longer walk on her own as she falls her gait is so unsteady and lexi can no longer write her name n draw as her arm starts wandering up. Anyone please help shed some light x
Please research celiac disease! and gluten ataxia....please.
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