I need your opinion please

I received my neurologist report regarding my progressive ataxia today. She mentions: He has a hesitant scanning dysarthria. Pursuit eye movements are probably within normal range. He has unusual saccadic eye movements with frequent eye blinking. Saccades were not clearly hypometric. He consistently missed the tip of my finger and nose. Heel shin testing in the legs was jerky rather than ataxic. Ankle jerks were absent as before with flexor plantars. Ishihara colour testing was reduced significantly in both eyes. Genetic testing to date has been normal. There are some atypical features in his neurological examination.

Did anyone have any of the above? I cannot understand how I have been diagnosed with progressive familial ataxia when genetic testing was normal. Is it possible that this was a misdiagnosis? All I know is that my symptoms have gone worse since November 2012.

Any ideas please?

Sounds familiar .. I can recall receiving copy of letter from neurologist to GP shortly after consultation and by the time the next consultation is due, I have lost the will to understand!!

I did try discussing with GP and googling the various words but in the end, I lost interest.

I understand that if your genetic testing doesnt come up with anything, the diagnosis is unknown cause.

The best thing to do is to live healthy life with as much exercise as possible, good diet, vitamin/mineral supplements, keep in touch with this forum and if possible join a local support group. Read up on vitamins/minerals and understand your own body.

Take care,

Patsy

CA/70/Colchester UK

First thing, is your neurologist an actual 'ataxia specialist'? the everyday neurologist is not qualified and simply won't do. This cannot be stressed enough.

Next, are other members of your family affected? Do any members of current or past generations display symptoms? This leads back to my first question.....the term 'Familial' is not used much. Ataxia is either 'hereditary' or 'sporadic'. This is splitting hairs, but yet can bee a problem.

If your ataxia is not 'hereditary' or 'familial', it is 'sporadic', which means it is not a genetic cause. Therefore, a genetic test is of no value. There is a BIG difference in a neurologist, and a real ataxia specialist, which is usually only at a university.

I have to tell you that I've gone through ton's of testing with ton's of diffrent Dr's. Mostly regular at first then progressed to specialist in ataxia. I got all kinds of diagnosises and the Mayo clinic finally saidin 2006, I had Sporatic SCA. Meaning that the Sporatic means they really don't know how I got it but I must have aquired it somehow inviermentally because no one in my family has a history of it for as far back as they could see.

Since I've gotten so many diffrent diagnosises and thoughts that it make me realize that Dr's don't really know any more than we do (because we are in our body and feel what it's like) except they have more knowledge of how the body is supposed to work. Just they can read tests that we take and they give us their opinion on what we should do etc. For me I take what I want and leave the rest. They are humans too. I know personally they have bad days too. I did alot of Dr's hair and heard lot's of stories! It's like being a bar tender. Hahahahaha!

Anyway my point is, allot of this ataxia to me is trial and error no matter what kind we have. Meaning it's now about what I can do, and do well not worring about what I can't do anymore. This is a new chapter to be lived for me. I use my foods as meds and stay away from toxins or additives in my foods.

That sure has helped make a diffrence in my ataxia. I stoped having any flour, gluten, refined sugar nothing in a box or a bag and am looking at elminating a few other things almost on a regular basis. I do focused movements to help me balance better and work on my Cognitive thinking skills. I have proved that our bodies can fight agenst this ataxia. My last 3 MRI's since doing this haven't shown any more degeneration. I get one every other yr now just to monitor my cerebellum.

I think it doesn't mater what type we have. What matters for me is what are willing to do for ourselves not to loose as much funtion as possible. In my exsperiance also not moving has made my ataxia symtoms worse. By lubing my joints by focused movements rehularly I tend to have less symtoms and move much better. Try some.

I have seen by working on diffrent muscles and training my body to do more things that the tests above have improved also. Yes it takes some effort but what eventually comes out of it really pays off!

I guess my take away from this was please don't get so hung up on what a Dr says. They are not a god. I think we all were trained to think that they were years ago and we want them to be, but they are humans that miss things. You know your body and are responsible for what you think. That said, learn what you can do and do it as best as you can no matter what any Dr. says or not. I mean I think it's great to have a Dr that gives you thoughts that help and work for you but remember they are just part of your team helping you. If they don't work with you find another one and keep going until you get either the result you want or find someone that will work with you to better what you have and either slow your progress or stop it all together. Your choice.

Everyone's ataxia doesn't have to be the same as everyone elces even if it's hereditary. I've seen people think out of the box with hereditary and are doing really well because of their food intake and exersize. Dare to dream and work on something you think you can't do. You will be amazed what your brain can do.

Also check out his site sometime. Dr. Tom Clouse www.walkingwithataxia.com .

You may not get the diagnosis you want
Remember Ataxia has no cure!
The diagnosis of same remains in my view academic!
Good luck!
Regards
Barney

I think it's also fair to say that not feeling guilty when you are too tired to exercise is important too.

If you can pace yourself by sticking to a routine, that helps considerably and always find time to do the things you enjoy best.

Take care, Patsy ;)

Your right Patsy, gult isn't productive. I read where only 10 mins of continual movements (any kind help the blood flow) will work also for the mood for up to 2 hours. So it's what you can do even if it's only a small amount but doing something helps. Please don't miss understand me I'm not an athlete or like exercizing. I strech etc because if I don't I see what can frezze up if we don't use our body. But It's really just a choice to do it or not.But guilt dosn't help. That to me is thinking and feeling bad and focusing about what I can't do. I think thinking about what can be done no matter how small or how often it helps give us some power over our situation and more movement with our body.

Yep.. I do my wii fit exercises most mornings - including stretching. I do find though, that, if I dont do them first thing, I just dont get round to it at all!!

I have a passive exercise pedal machine [electric].. but just havent used it in ages - once I get out of the routine, I dont seem able to motivate myself.

Patsy

I think that is so great that your doing focused movements to keep things moving. I totally agree and I love my Wii Fit Plus also!

I read that habits take 21 days to make a new one and 31 days to drop an old one! I find it Interesting, isn't it? I have a alarm that goes off a few times in the day to remind me that I can do anything for 12 hours. Then the next day I think that was again. That seems to help me because I can do anything just for 12 hours. If I have to think of doing it forever I can't. Mind game! hahahahaha

Thanks for that Jeannie .. you have no idea how much I appreciate such helpful advice. I am sure others will find it just as helpful. My husband, Ken, will be hearing some 'alarms' heehee.

Patsy

Thank you very much for your comments. I just called my mum who lives in another country. She told me that my dad's mum had balance and mobility problems. I know my dad died from a head injury after a bad fall. I know he had balance problems as well but doctors thought he had MS. This is what's puzzling me. Was my dad's diagnosis wrong or mine is?

If it was a genetic problem then it should have shown on my genetic tests. As Jonas says, I have never heard the term 'familial ataxia' as well but my Consultant Neurologist keeps mentioning it in her reports. In one of her reports she says that I suffer from 'progressive familial ataxia'. The doctors can be very confusing.

Doctors can indeed be very confusing.. I really sympathise with you.

My neurologist told me he was 95% certain I dont have MS - so what does that say - there is a 5% chance that I do!!

Patsy

I think every year they are getting better testing and knowledge of ataxia. So just maybe they didn't know what your Dad had at that time. Maybe they were more limited in their thoughts. I too was told at one time that I had MS, then it was ruled out. I really think the outcome of their diagnosis comes from only there knowledge at the time. So it can change. That's not to say yours or his was wrong. It maybe just down to interpitation.

One of my Dr's was seeing another patient (a lady I met at an ataxia meeting) that had all the same symtoms as I had at the same time, and she was seeing him regularly and they missed diagnosing mine. So you would think they should be able to put two and two together and figure out that I had the same kind or similar thing, but they didn't. But they missed it altogether!

I looked up familial ataxia and it's mostly negitive outcomes. I choose NOT to believe it just because it's on the internet. I think this isn't forward thinking.

I remember before I got a diagnosis that I was grapsing at anything for an anwser.My mood was up and down. I had mostly negitive thoughts because of what I was told about ataxia and the outcome. When my 3rdMRI came back that it hasn't moved or degenerated any that is when my Dr suggested we have one every other year just to keep track. I smiled and told him that I stoped it! He said "You may have but no one has ever done that before." That's when I told him that there is a first time for everything! " Right now I feel as though I found something thats working for me.

I am confident with this new brain maping that there will be a cure soon or will find out what will help us.There is lot's of real hope for all of us! They are coming up with new things all the time. That's the biggest reason why I'm making sure I am as healthy as possible. So when something comes available I'll be ready for it to work well! That's what I choose to focus on. They say what you focus on gets bigger. Well........................................... :0)

A neurology "team' diagnosed me with Sporadic (Idiopathic) Cerebellar Ataxia (unknown cause) 10 years ago. The neurologist (an ataxia specialist) I'd seen for years, said my ataxia wasn't hereditary, as no one in my family, as far back as we know, has/had this, except me. I even had genetic testing for the known recessive types of ataxia, which was negative. My original neurologist retired last November, therefore I have a new ataxia neurologist, who is also a researcher. When I saw him for the first time in January, 2013 he said he believes all ataxia's are hereditary, although in my case, the gene hasn't been identified yet. He also said that I probably got this unidentified gene from a distant relative, although this relative was never diagnosed as many years ago, my relative would have no idea what was wrong. Also my old neuro. wanted me to have an MRI every five years. My new neuro. said there's been studies that show that additional atrophy in the cerebellum is not an indication that the ataxia has progressed. In reverse, if there is no additional atrophy in the cerebellum, it isn't an indication that the ataxia hasn't progressed. This goes against all I believed, therefore, the jury's still out on what I think about all this! ;o)

Thank you everybody for sharing your experience. I woke up feeling worse this morning. I believe the doctors are not sure about everything they say. The first neurologist I saw when my symptoms started thought I was crazy when I told him that I was having similar symptoms like my father had. He said that I was still by my father's death and that I needed counselling. I saw another neurologist at the same hospital who for some reasons could not find my previous neurologist's notes. He said that I had 'cerebellar dysarthria and unusual gait'. The neurology department in that hospital closed and I was referred to another hospital. For some reasons they did not transfer my previous notes. This suited me because I could have fresh opinions. The new neurologist who examined me said that from my history and symptoms it looked like I was probably suffering from cerebellar ataxia. After two years my diagnosis was changed to 'Progressive Familiar Ataxia'. Whatever that means?? ..And my above post,..negative genetic test results etc. Its all confusion to me.. My main concern is: Am I really suffering from Ataxia for which there is no cure or Am I suffering from some other illness for which there is a cure? I hope that many of you understand what I mean.. Thanks.

You have to make the ultimate decision

But why are you here?

Regards

Barney

This used to be my biggest concern and that is why I succumbed to all the testing but I am reasonably satisfied that there is no cure for whatever it is I have.

I understand that they need to monitor the progression of any ataxia in order to have meaningful statistics for future research but when they lose their notes I despair.

Travel to and from specialist clinics is very stressful; the waiting around and painful tests even more so; then we must wait a long time for appointment to discuss results of tests and to be told they have lost the notes is ........

Need I say more.

Patsy

Hi Barney. What do you mean by 'But why are you here'

Regards

Deo

BERNARD PURCE said:

You have to make the ultimate decision
But why are you here?
Regards
Barney

To have joined this website you presumably are diagnosed
Ataxic???
Deo's Page said:

Hi Barney. What do you mean by 'But why are you here'

Regards

Deo

BERNARD PURCE said:

You have to make the ultimate decision
But why are you here?
Regards
Barney

OK. I know what you mean now. Yes I have been diagnosed but the genetic tests came up negative. Anyway its one of those days when we have doubts and don't know where we are going.

Regards

Deo


BERNARD PURCE said:


To have joined this website you presumably are diagnosed
Ataxic???


Deo's Page said:

Hi Barney. What do you mean by 'But why are you here'

Regards

Deo

BERNARD PURCE said:

You have to make the ultimate decision
But why are you here?
Regards
Barney