I did go for a second opinion. I was glad that I did. Then you will know for sure.
Good Luck
So many unknown causes for SCA. My GP sent me for an MRI as a last resort, I think he was fed up.
In 2000 an MRI showed I had posterior fossa atrophy and a tortuous right vertebral artery, distorting the
Medulla on the right.
The Neurologist I saw at the time, said this was very reassuring, no aneurisms were detected. I was told
nothing could be done to help with the symptoms I had, just go away and live with it. It seems obvious now
to me that I showed every sign of having SCA, I desperately needed help from somebody, he was next
to useless. Had I been referred to an Ataxia Nuerologist, psychologically it would have benefitted me
enormously.
In 2011, after constant to-ing and fro-ing to my GPs with an increasing list of symptoms that were causing
me distress, falls and depression, I was sent for a Passive Tilt Test. I lay on an examination table for approx
40mins, and then stood upright. Had nurses not supported me, I would have instantly collapsed on the
floor, my legs felt like rubbery jelly and just splayed out when I tried to walk. I actually felt drunk and thought
it was funny!
I had another MRI which I was told showed no abnormality in respect of MS, which had worried me, and
offered counselling from a Psychologist. I really thought I was losing it completely.
However, I next received an appointment at the Neurology Clinic, where I was told they had looked at
the MRI and detected some cerebellar atrophy. Intensive blood tests came up negative. I was referred
to an Ataxia Specialist (Professor Chinnery-Neurogenetics at Newcastle University), I was having a reasonable
day and his only comment was 'strong arms'. I donated DNA.
As a young child I was flung from the back seat of a car and hit my forehead on the windscreen when my father
braked sharply. Perhaps this happening at a young age is actually at the root of all my problems, who can say?
I answered this post intending to be helpful, but now think all I've done is have a bit of a rant, oh dear!
Not a rant Beryl - thanks for sharing.
Patsy xx
Hi Beryl
Thanks for sharing. It makes me feel better knowing that I am not alone. I think you may be right about your head injury as a child. I have read it somewhere. I will share the story with you when I see it.
Best Regards
Deo
Beryl Park said:
So many unknown causes for SCA. My GP sent me for an MRI as a last resort, I think he was fed up.
In 2000 an MRI showed I had posterior fossa atrophy and a tortuous right vertebral artery, distorting the
Medulla on the right.
The Neurologist I saw at the time, said this was very reassuring, no aneurisms were detected. I was told
nothing could be done to help with the symptoms I had, just go away and live with it. It seems obvious now
to me that I showed every sign of having SCA, I desperately needed help from somebody, he was next
to useless. Had I been referred to an Ataxia Nuerologist, psychologically it would have benefitted me
enormously.
In 2011, after constant to-ing and fro-ing to my GPs with an increasing list of symptoms that were causing
me distress, falls and depression, I was sent for a Passive Tilt Test. I lay on an examination table for approx
40mins, and then stood upright. Had nurses not supported me, I would have instantly collapsed on the
floor, my legs felt like rubbery jelly and just splayed out when I tried to walk. I actually felt drunk and thought
it was funny!
I had another MRI which I was told showed no abnormality in respect of MS, which had worried me, and
offered counselling from a Psychologist. I really thought I was losing it completely.
However, I next received an appointment at the Neurology Clinic, where I was told they had looked at
the MRI and detected some cerebellar atrophy. Intensive blood tests came up negative. I was referred
to an Ataxia Specialist (Professor Chinnery-Neurogenetics at Newcastle University), I was having a reasonable
day and his only comment was 'strong arms'. I donated DNA.
As a young child I was flung from the back seat of a car and hit my forehead on the windscreen when my father
braked sharply. Perhaps this happening at a young age is actually at the root of all my problems, who can say?
I answered this post intending to be helpful, but now think all I've done is have a bit of a rant, oh dear!
Were you diagnosed with progressive ataxia, or progressive, familial ataxia?
I have FA, and I have to say that all sounds familiar. Your eyes have jerky movements, your peripheral Vision is fading, your legs jerk when you try to lock your muscles in place so that your foot doesn’t wander off when you glide it between knee and ankle… People progress at different ages and speeds.
Hi Fiona
The report says Progressive Familial Ataxia. The genetic test came up negative which makes me wonder.
Regards
Deo
Fiona said:
Were you diagnosed with progressive ataxia, or progressive, familial ataxia?
I have FA, and I have to say that all sounds familiar. Your eyes have jerky movements, your peripheral Vision is fading, your legs jerk when you try to lock your muscles in place so that your foot doesn't wander off when you glide it between knee and ankle... People progress at different ages and speeds.
Sometimes you have to go to more than one nerologist. I finally went a few years ago because my balance was getting really bad and my hands were shaking alot. My mom at the same time told me she was having balance problems and falling down alot. These symptoms were going on for a long time and we finally wanted to find out what was causing them. The neurologist we went to did alot ot tests that included alot of blood tests and MRI. She couldn't find anything that was wrong with us. She referred us to another neurologist that couldn't find anything wrong with us and he referred us to a doctor that specializes in Ataxia. He is the doctor that told me and my mom we have genetic Ataxia. You should see a doctor that specializes in Ataxia. It took me and my mom almost 2 years to finally find a nerologist that could tell us what we have. Good Luck!
Hi Deo,
From personal experience, I know how important it is when you are recently diagnosed to feel you have
a correct diagnosis. Pyschologically it's a lot to get your head around, very hard to accept.
Sometimes, Neurologists' just have to give you their best guess according to the results of the tests they
do. For about 20yrs I thought most of my symptoms were due to Epilepsy, although I'd only had 1 seizure,
and that was after having a shock (not electric).
SCA was diagnosed after an MRI confirmed atrophy of the Cerebellum, along with the associated
symptoms of the condition. The particular type is currently unknown, I don't feel I need to know.
For me, the findings on the MRI almost put my mind at rest. By that time I thought I was really losing
the plot, nobody was taking any notice about my continual symptoms.
If you haven't already had an MRI, perhaps having one would help you.
Well said Beryl.. wish I had read that when I was first diagnosed. However I do still find myself questioning why I have all these symptoms.
I can understand the tracking messages from cerebellum to front brain causing unsteadiness and lack of co-ordination. Things like walking, which I used to do 'on overdrive' but now,having slowed down, need to engage brain!
I also understand that the need to 'compensate' causes us to be tired and the muscles reacting by being painful and stressed.
The bit that I have never understood is the jerking muscles, tremor, numbness and burning.
I have had muscle biopsy which showed that there is 'something wrong' but they didnt know what.
I cant help dwelling on this. The members of my support group agree with me and it helps considerably to have these discussions.
I don't know what it's like to go to a support group. The nearest I've come to that is the conference
at Stanstead. In fact, that was the first time I met anybody else with this condition. I had no idea
that there could be such a range of symptoms, in such degrees.
This site is the next best thing to a support group, when you can't get to one.
That's true Beryl but I have members in my group [Ataxia UK Ipswich & Colchester] who cannot get to meetings but like to be members as I send out monthly newsletter. This way they feel part of us and can phone or email other members.
Most have been at least once a year but few I have never met.
Patsy
Hi Beryl
Thanks for your insight. I had an MRI scan five years ago and it did not show anything. The genetic tests did not show anything either. That's so worrying.
Regards
Deo
Beryl Park said:
Hi Deo,
From personal experience, I know how important it is when you are recently diagnosed to feel you have
a correct diagnosis. Pyschologically it's a lot to get your head around, very hard to accept.
Sometimes, Neurologists' just have to give you their best guess according to the results of the tests they
do. For about 20yrs I thought most of my symptoms were due to Epilepsy, although I'd only had 1 seizure,
and that was after having a shock (not electric).
SCA was diagnosed after an MRI confirmed atrophy of the Cerebellum, along with the associated
symptoms of the condition. The particular type is currently unknown, I don't feel I need to know.
For me, the findings on the MRI almost put my mind at rest. By that time I thought I was really losing
the plot, nobody was taking any notice about my continual symptoms.
If you haven't already had an MRI, perhaps having one would help you.
Keep the good work. People with rare diseases like Ataxia do need a lot of support because many people can't understand them. I have an ataxia friend. We met in September last year. Since then we have been very good friends. We meet every 2-3 weeks. I think it is important to meet people suffering from the same conditions. Then you don't feel excluded from society.
Regards
Deo
Patsy said:
That's true Beryl but I have members in my group [Ataxia UK Ipswich & Colchester] who cannot get to meetings but like to be members as I send out monthly newsletter. This way they feel part of us and can phone or email other members.
Most have been at least once a year but few I have never met.
Patsy
That's really good idea Deo .. you dont need more than two for support 'group' - I had never thought of that before.
I have email ataxia friends too but this group beats them all.
Patsy x
Yes, face to face contact forges a different kind of bond doesn't it. It's apparent that even among
us on this site, there are so many variations of this one diagnosis, it really is difficult to get your
head around it sometimes, let alone digest the medical/research information we're presented
with. I haven't been up long, that's quite profound for me, I'm impressed!!
Berylx