Bloody Neurology

General
1

Hi all, hope everyone is well.

By the title of my discussion those of you that know me can guess that I am very, very, very p****d off and in need of a rant.

O.K. Diagnosed with SCA6 by genetic testing and all the other stuff a couple of years ago after having had symptoms for about two years previously. Seen several neurologists (waste of time), Physio' s, O.T's (which I must say have been bloody amazing as I am now having a downstairs bedroom and wet room all thanks to them) and I have been waiting for a good 6 or 7 months to go to UCLH Ataxia specialist clinic in London.

So, appointment at 13:30, transport due between 10:30 and 11:30. After several phone calls it finally arrived at 13:10, a huge ambulance just for me. Nothing simple like a car, much more cost effective, apparently he forgot me.

Anyway got to see "the specialist neurologist in Ataxia" at around 14:30. Went in did all the usual stuff, family tree. any other family members, finger pointing, walking, reflexes etc. Why? I have genetic Ataxia it's been diagnosed, again, a waste of time.

Next thing, No cure, No treatment blah blah blah. I told him about my hypnogenic jerks (like when you nod off and you feel like falling only much worse and in my case very intense and sometimes painful) however; he said they are very rare to not only have them, but to have them to the extent I described. so it looks like all the people that replied to my discussion on these jerks are marvels as it is so rare, what do I know so is Ataxia, or is it?

I also told him about the severe cramps in my legs and hands and that on 3 or 4 occasions my right foot has gone into spasm and turned inwards, very painful to the point of crying. Not with Ataxia he says..... Ataxia symptoms in SCA6 are only usually slight loss of balance and some occasional tiredness due to having to concentrate on walking.

People with Ataxia do not get any sort of Tinnitus or ringing in the ears, do not have headaches, don't usually have difficulties with fine motor skills, don't have bladder issues, or sexual dysfunction, tremors, seizures, organising and planning verbal communication, problems with hand writing, using cutlery, feeling very over sensitive to touch, very easily startled, speech slurring occasionally etc. BUT

WE DO FALL OVER. Hurray something positive.

After all of 15 minutes (although in the letter it said I would be up to an hour for my first consultation,) I was discharged and he wouldn't need to see me again however he was more than happy to talk to my 16 and 20 year old boys about being tested as it's 50/50 chance of them carrying the gene. Oh really, no s**t Sherlock.

I actually said what a waste of time and tax payers money as everything he had done had been done before so what was the point? He said that if any new treatment or studies come up they could make me aware. Surely this could have been sent via e mail, or a letter or a phone call, smoke signals instead of costing me a day off work, transport costs both to and from the hospital, building hopes up only to be told that Ataxians don't generally get any other symptoms and basically that was that but he's going to write to my G.P to try and reduce my medication (nut nut pills that I really need as now due to Ataxia I have Chronic Clinical Depression and chronic pain, oh no sorry I don't have that either according to him so yeah go ahead and reduce them) and to top it off I waited for over two hours for transport and after dropping other people off, I got in at 21:30. Lovely. So what do I think of neurologists? I can't say otherwise John Colyer or Ben Mendoza would have me banned for blasphemy and probably given 20 lashes. Thanks, I feel a bit better now, must be my meds kicking in. Actually the neurologist blamed all symptoms on medication. Hey ho thanks for listening.

Anyone know how Beryl is I haven't spoken to her in a while. Have a good day fellow Ataxians or nutters or whatever people think of us including BLOODY NEUROLOGISTS. I think I'm O.K. to say that John xx

2

Wow Beverley. You have really been through a lot.

3

LOL. Bev... I feel your relief and well done for typing that rather than punching the wall.

I must say that 'all' of my neurology appointments have been disappointing to say the 'least' and all test results have caused an anticlimax.

My diagnosis is idiopathic so I can imagine, knowing you have SCA6, these 'appointments' must be even more frustrating.

Ken used to drive me to London and the parking, waiting and road delays were just as challenging.

I have always learnt more on this forum than I have ever learnt from medical appointments.

I have chosen not to go to London anymore and have managed to transfer to a local clinic. I have made it clear that I dont want anymore testing but happy to be monitored for statistical purposes. I do however find neurophysio appointments very useful as she, Leona, encourages me to keep on my feet by doing core exercises etc.

I have heard from Beryl on FB.

xoxo

4

Sounds like he needs to do some continuing education work! Except for the tinnitus and sensitivity to touch, I have all of your symptoms. I also gave genetically diagnosed SCA 6. I have heard about others with the tinnitus so am thankful not to suffer from that symptom.
Sorry you have had such a bad experience. I suggest doing research yourself for new developments and don’t let anyone convince you that you are not having particular symptoms. Most docs don’t really know what problems occur and have only seen a handful of patients. I was told exercise wouldn’t make any difference when I was diagnosed 11 years ago. Now we know, it can make a big difference for most ataxians.
Keep as active as you can. The muscle spasms are definitely part of this. I take magnesium to help. Might be worth a try:). Thank goodness for computers as my handwriting is hardly legible. Speech therapy taught me to slow down and over enunciate to counter the slurring. No cure yet, but many great docs are working on it.
I remember the first neurologist who diagnosed me telling me to consider myself lucky as SCA6 was the “best” one to have if I had to choose one! Needless to say, I found a new doc. No one is lucky to have any version of ataxia. Sorry, that was my little rant!

5

O

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Wow, Beverly! That was a good rant. Good for you to let your frustrations out ! I do not have much to offer you for advice, but I have a bit of a theory concerning the attitude of doctors when confronted with rare diseases…

I wonder how old the research papers are that doctors base their knowledge on?
What makes me ask this question is the fact that every time someone presents themselves with a symptom, a doctor will say as you mentioned yourself, " people with ataxia do not have this, or do not have that…“
Could it be that the first patients studied did not have these particular symptoms at their stage of the disease and since doctors do not always keep up with the newest developments, they keep basing their opinions on old facts? Plus every patient, even with the same ataxia type will have different symptoms, making cases even more difficult to understand.
Add to this the facts that rare diseases being what they are called - RARE - research is very limited and very slow to progress…
Then, few doctors will admit their ignorance and it is easier to say " it is not possible” rather than " I do not know"…

Do I make any sense? Ideas are dancing through my head and it is not always easy to express them.
But I wish you the very best. The only thing I have found to help me is acceptance of my situation. I thought I would be wasting precious energy by fighting a fight I do not believe I could win in my lifetime. I prefer to live one day at a time and enjoy life while I can. I am not giving up on myself, just conserving my strength.
Take care Bev !

7

It seems we need an answer for these docs when they tell us facts that show they are not knowledgeable enough about ataxia. We just cant get better at all if we just go there to spend money and get no information or help at all. It seems if you have been tested they can see they cant help you, so why make you think they can because they need to feed their families. Why just go thru the motions.

8

Bev, I sent you an email before reading this, how awful you feel this way. I’ve been
recommending people to ask to be referred to Ataxia Centres, it’s disappointing to
say the least. Because I volunteer at Newcastle Ataxia Centre, I can see that it’s
the people who are still looking for a diagnosis who benefit.

I was also told SCA6 is the best type to have ( I’m idiopathic), because it’s the best
understood type.

To infer that SCA6 has seemingly minor symptoms is an insult to anyone who has it

It does sound like you were just being reviewed, no benefit to you but a way of them
keeping tabs on everybody, ticking boxes.

Just a couple of days ago I lost it with a doctor. I felt justified, and that I would be
letting myself down if I didn’t speak up.

I hope you feel calmer after releasing the pressure valve, always better out than in :slight_smile: xB

9

Hi Beverley,

You sound good and you have a wonderful sense of humor. Neurologists that my husband saw seemed to know very little about ataxia even the ones who were “specialists”. We just stopped going to them. Here in the US they also tend to be primadonas. I can’t tell you how angry I used to be at their attitude and lack of knowledge. My husband had cerebellar ataxia but he had so many complications. He had multiple and severe kidney and bladder stones and many bouts of pneumonia and that’s what took his life.
I couldn’t care for him at home anymore so he had to go to a nursing home and I had to be with him
Most of the time as they did not care for him properly. He was very much neglected and that’s why I was there with him. “They” didn’t like me very much and hated that I was always complaining. Bruce did have all of those symptoms that they told you were rare or unheard of. I did not have the money to hire people to help care for him in the home. I deeply regret it because of the poor care he received… At least in Great Britain the government helps with medical care. Early on, we were financially devastated because our insurance dropped us. Anyway,as you can see I’m grieving and angry. Bruce had every single symptom you mentioned especially the bladder and kidney, tinnitus, slurred speech, tremors and on and on. I still believe the answer is to keep moving, strengthen your muscles, take it day by day and avoid any stress. Be at home and live day by day with love and a sense of humor and you have a chance for a good life with the one disability, ataxia. NEVER EVER give up. Love to all, Zoey

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I have had a little problem talking back to a doc here and had to cool off or they can drop you from the rolls and you have big problems then. You have to treat them like spoiled children or you get punished. Here Kaiser permanente has a reputation, it is good and it is bad to be under their thumb.If I was a single man I could get in trouble dealing with them.

11

Hi Beverley

Shame you're not in Australia. I love my neurologist! I get to see him every three months because of dystonia, which in my case is related to the ataxia I have. I also have SCA6 (recently genetically diagnosed...earlier this year) I have also been told it's the "best sort to have" and from the research I have done I agree with that. Not that I'd recommend it to anyone. There is no cure...at this stage. There is basically no treatment...at this stage, just management. You need a good gp, and a good physio. You also need good research skills because let's face it, we're the ones at the coal face, and we're the ones that have to cope with things. I have tinnutis (not badly). I have virtually no pain (except at night) and I sleep poorly. I have no energy. I do an hour's exercise (or thereabouts) each day on my exercise bike/treadmill to keep things moving, and to give myself more energy. I cannot walk outside the yard without a walking stick. I can drive at this stage, but only locally because of the double vision peripherally. The walking stick will soon progress to a walking frame/mobility scooter. I walk like a drunk. I don't have depression, but I DEFINITELY have my moments. My life has changed drastically. Basically everything I took for granted I can no longer do, or I have had to find new ways to do things.

I don't work (I'm retired) but I wouldn't have the energy/concentration to work these days. I used to a lot of voluntary work, now I would love an assistance dog!

I am so sorry you've had this experience. Your neurologist sounds as though he needs to up his research. He also sounds about 15! It seems "the system" is different in each country. The neuro I have is a leader in the field, and is a lecturer at uni. He often has ph d students or visiting specialists from other countries "learning the ropes". Just recently I was "seen" by a lady from Arabia, and a gentleman from Spain.

At the moment I am training my gp on SCA6, and he is happy to learn. Previously I had to teach him about dystonia. I must admit I enjoy that bit...:)

Going to have to stop now, my eyes are rolling too much to see what I'm typing!

All the best!

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Now here is a fabulous person making the best of life! God bless you!

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I hear you. That is why I stopped going. There's no cure for ataxia and i really believe pharmeceutical companies are out there to just make money off drugs for certain pains but have side effects. Its a load of crap. The only person that can prolly give you good medical advice is your physical therapist. Eating local and organic helps too because hey...you are what you eat. so eat the healthy stuff and you'll be good.

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Lol U Go Girl! I really feel it is time we find a Doctor who can open a book and see what we need. We keep supporting Neuroglist who don't know anything about this except what you said.

15

Thanks for your support and for listening and thanks John re the lashings lol.
It’s quite ironic actually as just as I’d finished typing my rant, my G.P called me and asked me to pop in after work. Goes to the G.P and apparently I have been selected as a chronic patient and would get priority at A&E due to my Ataxia. I had to sign some forms to basically say that I have to see her more often than other patients due to having such a rare illnesses and that she’s not a crap G.P that doesn’t help me. More than happy to sign as she’s been great throughout and it was her that got me seen and supported so much. I was very lucky as she knew about Ataxia and I got onto the system fairly quickly. She asked about my long awaited neurologist appointment, so I basically gave her the same rant. She was horrified by what he said and said that I needed to have a scan on my bladder because it’s not normal to be busting for a pee yet finding it hard to go, and not a side effect of my meds and also an EEG as the Hypnothingy spasms I get needs investigating and “yes”, people with Ataxia can have it worse than people who don’t. ( trying to think of a funky name for someone who doesn’t have Ataxia like Autistic people call non autistic people Neuro-typicals), anyway she’s on the ball and definitely not impressed with the neurologist. Shan’t be seeing him again and “No”, he’s not "buggaring around " with my meds. Go G.P. Yeah
So anyway it’s the first of October and here in the U.K it’s “Stoptober”, normally about quitting smoking. Seeing as my alcohol intake is rather large, and yes I know it’s the worst thing ever for Ataxians, not a drop will touch my lips for the entire month and hopefully never again, and I have purchased a way cool exercise bike that is in my dining room just waiting for it’s inaugural moment. I have sat on it but I don’t think that counts.
Anyway, have a great day.
Good to hear from you Beryl xxxx

16

Dear Bev, Way to rant! I'm sorry this all has happened to you! Very frustrating!!! At least you have a wonderful sense of humor about all of it, what else can you do? My best to you..., ;o)

17

Hi Beverly, I had your post via an email, I don't reply to many unless I can connect to the situation. I go to the National on Queens Square, London too. I wondered who you saw? I see Dr. Giunti. A rather abrupt but precise Italian lady. She helped me with my headaches and tremors all in one consultation. Arranged my physo which was absolutly fab, and now starting it up again as I didn't keep it up, now have weakness in my legs n back, silly me. My GP sent me to a Reyners Hedge to help with my swallowing, speech, and the introduced me to a fab Neuro rehab OT. You can INSIST through your GP on seeing someone else, even one you have heard of, cough cough, nudge nudge.

I had a very upsetting and disappointing 1st and 2nd consultation in Oxford, 'Old Radcliffe', which is now due to be pulled down. Hopefully Dr. Talbot will still be in it when they do. So I can sympathise with the frustration. Also I had a Neurologist in Stoke Mandiville who did 2 types of brain MRI's and only found my pineal cyst on my 2nd scan when it was really clear on my 1st. Don't give up. There is someone out there you will connect with and help you. All their speak is scientific and proven not 1st hand, feelings and emotionals. Thinking of you x

The patient transport is awful across the country! I do vonutary work at a local hosp and it is the same there.

18

Hi Jennifer it was Dr Wood, wooden by name and nature.

Just get fed up with professionals looking down their bloody noses at me. I'm not stupid

Jennifer Davies said:

Hi Beverly, I had your post via an email, I don't reply to many unless I can connect to the situation. I go to the National on Queens Square, London too. I wondered who you saw? I see Dr. Giunti. A rather abrupt but precise Italian lady. She helped me with my headaches and tremors all in one consultation. Arranged my physo which was absolutly fab, and now starting it up again as I didn't keep it up, now have weakness in my legs n back, silly me. My GP sent me to a Reyners Hedge to help with my swallowing, speech, and the introduced me to a fab Neuro rehab OT. You can INSIST through your GP on seeing someone else, even one you have heard of, cough cough, nudge nudge.

I had a very upsetting and disappointing 1st and 2nd consultation in Oxford, 'Old Radcliffe', which is now due to be pulled down. Hopefully Dr. Talbot will still be in it when they do. So I can sympathise with the frustration. Also I had a Neurologist in Stoke Mandiville who did 2 types of brain MRI's and only found my pineal cyst on my 2nd scan when it was really clear on my 1st. Don't give up. There is someone out there you will connect with and help you. All their speak is scientific and proven not 1st hand, feelings and emotionals. Thinking of you x

The patient transport is awful across the country! I do vonutary work at a local hosp and it is the same there.

19

Before you said the doctor you saw, I had already guessed because I had much the same treatment.

I came out of my consultation feeling totally confused. I was given no information to take home with me. It took me six months to even look at this site but it is the best thing I ever did. We are the experts in this condition and they can learn from us.

Keep fighting .... you have the right approach.

20

Dear Beverley, I can totally understand how you feel. I was seen by Dr Paola Giunti in March this year, and was admitted to UCH in Queens Square in August for multiple tests. She told me that the shakes I had was Parkinsonism caused by two of the meds I was on, and I promptly stopped them, only to suffer excrutiating tension and anxiety, I suffer from acute anxiety and have done since I was a child of 3 (family problems) that is 62 years in which I have learnt to cope. Losing that med, killed me and within 4 months I went to my GP who put me straight back on it.

Then whilst in hospital, I never saw Giunti, but was treated abominably by a young registrar who insisted I stood with my feet together, and wouldn't listen when I said I would fall over. He then instructed me to tandem walk, again I said I would fall over. I have written to Dr Giunti and said that if on my November appointment, I have to see this registrar, I will be walking out. The upshot, they said they were investigating and would ring me. No phone call. No nothing. I am as p.....d off as you are. I would rather go back under the care of My neuro consultant who has shown care and compassion. I don't think I need the famous Dr Giunti!